#Uploaded-variation | Location | REF | ALT | IMPACT | Feature type | EXON | Protein position | Amino acids | SIFT | SIFTscore | Polyphen | Polyphen 2 score |
rs80605562 | 4:61707236-61707236 | A | C | MODERATE | Transcript | 1/9 | 12 | Q/P | deleterious_low_confidence | 0.02 | possibly damaging | 0.722 |
rs80692549 | 4:61707399-61707399 | A | T | MODERATE | Transcript | 2/9 | 19(68) | D/V | tolerated | 0.47 | benign | 0.009 |
rs14479722 | 4:61707470-61707470 | A | C | MODERATE | Transcript | 2/9 | 43(92) | K/Q | tolerated | 0.29 | benign | 0.005 |
rs14479723 | 4:61707489-61707489 | A | G | MODERATE | Transcript | 2/9 | 49(98) | N/S | tolerated | 0.52 | benign | 0.003 |
rs731047275 | 4:61707585-61707585 | A | G | MODERATE | Transcript | 2/9 | 81(130) | N/S | tolerated | 0.15 | benign | 0.247 |
rs80658674 | 4:61708591-61708591 | A | G | MODERATE | Transcript | 3/9 | 131(180) | S/G | tolerated | 0.45 | benign | 0.002 |
rs80619479 | 4:61709615-61709615 | A | C | MODERATE | Transcript | 4/9 | 174(232) | N/H | tolerated | 0.11 | benign | 0.421 |
rs80733702 | 4:61709628-61709628 | G | A | MODERATE | Transcript | 4/9 | 178(236) | S/N | tolerated | 0.5 | benign | 0.005 |
rs80572088 | 4:61709896-61709896 | A | T | MODERATE | Transcript | 6/9 | 201(334) | T/S | tolerated | 0.75 | benign | 0.023 |
rs80713467 | 4:61710093-61710093 | G | C | MODERATE | Transcript | 6/9 | 266(401) | R/S | tolerated | 0.52 | benign | 0.005 |
rs80718952 | 4:61710143-61710143 | A | G | MODERATE | Transcript | 6/9 | 283(418) | E/G | tolerated | 1 | benign | 0.001 |
rs314125162 | 4:61710434-61710434 | G | A | MODERATE | Transcript | 6/9 | 380(515) | R/K | tolerated | 1 | benign | 0 |
rs794518640 | 4:61710634-61710634 | A | G | MODERATE | Transcript | 6/9 | 447(582) | K/E | tolerated | 0.16 | possibly damaging | 0.63 |
rs80778047 | 4:61710677-61710677 | C | T | MODERATE | Transcript | 6/9 | 461(596) | A/V | tolerated | 0.36 | benign | 0.043 |
rs80668052 | 4:61710691-61710691 | G | C | MODERATE | Transcript | 6/9 | 466(601) | D/H | tolerated | 0.13 | benign | 0.051 |
rs80636705 | 4:61710832-61710832 | G | T | MODERATE | Transcript | 6/9 | 513(648) | A/S | tolerated | 0.24 | benign | 0.008 |
rs80641674 | 4:61711004-61711004 | C | T | MODERATE | Transcript | 6/9 | 570(705) | A/V | tolerated | 0.41 | benign | 0.002 |
rs80747649 | 4:61711195-61711195 | A | T | MODERATE | Transcript | 6/9 | 634(769) | T/S | tolerated | 0.27 | benign | 0.001 |
rs80669462 | 4:61711252-61711252 | G | A | MODERATE | Transcript | 6/9 | 653(788) | E/K | tolerated | 0.2 | possibly damaging | 0.894 |
rs80661166 | 4:61711293-61711293 | A | G | MODERATE | Transcript | 6/9 | 666(801) | I/M | tolerated | 0.23 | probably damaging | 0.995 |
rs80757506 | 4:61712065-61712065 | G | A | MODERATE | Transcript | 7/9 | 716(851) | D/N | tolerated | 0.09 | possibly damaging | 0.784 |
rs735041008 | 4:61715833-61715833 | C | T | MODERATE | Transcript | 8/9 | 763 | P/L | deleterious_low_confidence | 0.04 | unknown | ? |
rs740030255 | 4:61715851-61715851 | T | G | MODERATE | Transcript | 8/9 | 769 | V/G | deleterious_low_confidence | 0 | unknown | ? |
rs316043187 | 4:61715914-61715914 | A | G | MODERATE | Transcript | 8/9 | 790 | N/S | deleterious_low_confidence | 0 | unknown | ? |
rs736982671 | 4:61715944-61715944 | A | G | MODERATE | Transcript | 8/9 | 800 | Q/R | deleterious_low_confidence | 0 | unknown | ? |
rs733651632 | 4:61715958-61715958 | T | G | MODERATE | Transcript | 8/9 | 805 | S/A | deleterious_low_confidence | 0 | unknown | ? |
rs316084677 | 4:61716029-61716029 | G | T | MODERATE | Transcript | 8/9 | 828 | R/S | deleterious_low_confidence | 0 | unknown | ? |
rs14479729 | 4:61720359-61720359 | C | T | MODERATE | Transcript | 9/9 | 830 | P/L | deleterious_low_confidence | 0 | unknown | ? |
rs14479730 | 4:61720422-61720422 | C | T | MODERATE | Transcript | 9/9 | 851 | A/V | deleterious_low_confidence | 0 | unknown | ? |
rs14479732 | 4:61720444-61720444 | T | A | MODERATE | Transcript | 9/9 | 858 | H/Q | deleterious_low_confidence | 0 | unknown | ? |
rs793896212 | 4:61720447-61720447 | A | C | MODERATE | Transcript | 9/9 | 859 | Q/H | deleterious_low_confidence | 0 | unknown | ? |
rs318110846 | 4:61720512-61720512 | A | G | MODERATE | Transcript | 9/9 | 881 | D/G | deleterious_low_confidence | 0 | unknown | ? |
rs1057909073 | 4:61720562-61720562 | C | T | MODERATE | Transcript | 9/9 | 898 | P/S | deleterious_low_confidence | 0 | unknown | ? |
rs1057733301 | 4:61720567-61720567 | C | G | MODERATE | Transcript | 9/9 | 899 | C/W | deleterious_low_confidence | 0 | unknown | ? |
rs738876733 | 4:61720632-61720632 | G | A | MODERATE | Transcript | 9/9 | 921 | G/D | deleterious_low_confidence | 0 | unknown | ? |