Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.45804332C>A | CA406404736 | RSPH6A | c.1573G>T (p.Asp525Tyr) c.781G>T (p.Asp261Tyr) | |
19 | g.45804332C>G | CA406404735 | RSPH6A | c.1573G>C (p.Asp525His) c.781G>C (p.Asp261His) | |
19 | g.45804332C>T | CA406404734 | RSPH6A | c.1573G>A (p.Asp525Asn) c.781G>A (p.Asp261Asn) | COSMIC |
19 | g.45804333C>A | CA507828600 | RSPH6A | c.1572G>T (p.Pro524=) c.780G>T (p.Pro260=) | |
19 | g.45804333C= | CA2338614979 | RSPH6A | c.1572G= (p.Pro524=) c.780G= (p.Pro260=) | |
19 | g.45804333C>G | CA507828601 | RSPH6A | c.1572G>C (p.Pro524=) c.780G>C (p.Pro260=) | dbSNP |
19 | g.45804333C>T | CA9522631 | RSPH6A | c.1572G>A (p.Pro524=) c.780G>A (p.Pro260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804334G>A | CA9522633 | RSPH6A | c.1571C>T (p.Pro524Leu) c.779C>T (p.Pro260Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.45804334G>C | CA9522632 | RSPH6A | c.1571C>G (p.Pro524Arg) c.779C>G (p.Pro260Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804334G= | CA2338614980 | RSPH6A | c.1571C= (p.Pro524=) c.779C= (p.Pro260=) | |
19 | g.45804334G>T | CA406404737 | RSPH6A | c.1571C>A (p.Pro524Gln) c.779C>A (p.Pro260Gln) | |
19 | g.45804335G>A | CA9522634 | RSPH6A | c.1570C>T (p.Pro524Ser) c.778C>T (p.Pro260Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804335G>C | CA406404738 | RSPH6A | c.1570C>G (p.Pro524Ala) c.778C>G (p.Pro260Ala) | |
19 | g.45804335G= | CA2338614981 | RSPH6A | c.1570C= (p.Pro524=) c.778C= (p.Pro260=) | |
19 | g.45804335G>T | CA406404739 | RSPH6A | c.1570C>A (p.Pro524Thr) c.778C>A (p.Pro260Thr) | |
19 | g.45804336G>A | CA507828602 | RSPH6A | c.1569C>T (p.Asn523=) c.777C>T (p.Asn259=) | dbSNP gnomAD v4 |
19 | g.45804336G>C | CA406404740 | RSPH6A | c.1569C>G (p.Asn523Lys) c.777C>G (p.Asn259Lys) | |
19 | g.45804336G= | CA2338614982 | RSPH6A | c.1569C= (p.Asn523=) c.777C= (p.Asn259=) | |
19 | g.45804336G>T | CA9522635 | RSPH6A | c.1569C>A (p.Asn523Lys) c.777C>A (p.Asn259Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804337T>A | CA406404741 | RSPH6A | c.1568A>T (p.Asn523Ile) c.776A>T (p.Asn259Ile) | |
19 | g.45804337T>C | CA406404742 | RSPH6A | c.1568A>G (p.Asn523Ser) c.776A>G (p.Asn259Ser) | |
19 | g.45804337T>G | CA406404743 | RSPH6A | c.1568A>C (p.Asn523Thr) c.776A>C (p.Asn259Thr) | |
19 | g.45804338T>A | CA406404744 | RSPH6A | c.1567A>T (p.Asn523Tyr) c.775A>T (p.Asn259Tyr) | |
19 | g.45804338T>C | CA406404745 | RSPH6A | c.1567A>G (p.Asn523Asp) c.775A>G (p.Asn259Asp) | |
19 | g.45804338T>G | CA406404746 | RSPH6A | c.1567A>C (p.Asn523His) c.775A>C (p.Asn259His) | |
19 | g.45804339C>A | CA406404748 | RSPH6A | c.1566G>T (p.Glu522Asp) c.774G>T (p.Glu258Asp) | |
19 | g.45804339C>G | CA406404747 | RSPH6A | c.1566G>C (p.Glu522Asp) c.774G>C (p.Glu258Asp) | |
19 | g.45804339C>T | CA507965284 | RSPH6A | c.1566G>A (p.Glu522=) c.774G>A (p.Glu258=) | |
19 | g.45804342_45804344del | CA2585869017 | RSPH6A | c.1564_1566del (p.Glu522del) c.772_774del (p.Glu258del) | gnomAD v4 |
19 | g.45804340T>A | CA406404749 | RSPH6A | c.1565A>T (p.Glu522Val) c.773A>T (p.Glu258Val) | |
19 | g.45804340T>C | CA406404750 | RSPH6A | c.1565A>G (p.Glu522Gly) c.773A>G (p.Glu258Gly) | |
19 | g.45804340T>G | CA406404751 | RSPH6A | c.1565A>C (p.Glu522Ala) c.773A>C (p.Glu258Ala) | |
19 | g.45804341C>A | CA406404752 | RSPH6A | c.1564G>T (p.Glu522Ter) c.772G>T (p.Glu258Ter) | |
19 | g.45804341C>G | CA406404753 | RSPH6A | c.1564G>C (p.Glu522Gln) c.772G>C (p.Glu258Gln) | |
19 | g.45804341C>T | CA406404754 | RSPH6A | c.1564G>A (p.Glu522Lys) c.772G>A (p.Glu258Lys) | |
19 | g.45804342C>A | CA406404755 | RSPH6A | c.1563G>T (p.Glu521Asp) c.771G>T (p.Glu257Asp) | |
19 | g.45804342C>G | CA406404756 | RSPH6A | c.1563G>C (p.Glu521Asp) c.771G>C (p.Glu257Asp) | |
19 | g.45804342C>T | CA507965292 | RSPH6A | c.1563G>A (p.Glu521=) c.771G>A (p.Glu257=) | |
19 | g.45804343_45804344del | CA507965290 | RSPH6A | c.1562_1563del (p.Glu521GlyfsTer?) c.770_771del (p.Glu257GlyfsTer?) | |
19 | g.45804343T>A | CA406404757 | RSPH6A | c.1562A>T (p.Glu521Val) c.770A>T (p.Glu257Val) | |
19 | g.45804343T>C | CA406404758 | RSPH6A | c.1562A>G (p.Glu521Gly) c.770A>G (p.Glu257Gly) | gnomAD v4 |
19 | g.45804343T>G | CA406404759 | RSPH6A | c.1562A>C (p.Glu521Ala) c.770A>C (p.Glu257Ala) | |
19 | g.45804344C>A | CA406404760 | RSPH6A | c.1561G>T (p.Glu521Ter) c.769G>T (p.Glu257Ter) | dbSNP gnomAD v4 |
19 | g.45804344C= | CA2338614983 | RSPH6A | c.1561G= (p.Glu521=) c.769G= (p.Glu257=) | |
19 | g.45804344C>G | CA406404761 | RSPH6A | c.1561G>C (p.Glu521Gln) c.769G>C (p.Glu257Gln) | |
19 | g.45804344C>T | CA9522636 | RSPH6A | c.1561G>A (p.Glu521Lys) c.769G>A (p.Glu257Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.45804345G>A | CA9522637 | RSPH6A | c.1560C>T (p.Tyr520=) c.768C>T (p.Tyr256=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45804345G>C | CA406404762 | RSPH6A | c.1560C>G (p.Tyr520Ter) c.768C>G (p.Tyr256Ter) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804345G= | CA2338614984 | RSPH6A | c.1560C= (p.Tyr520=) c.768C= (p.Tyr256=) | |
19 | g.45804345G>T | CA406404763 | RSPH6A | c.1560C>A (p.Tyr520Ter) c.768C>A (p.Tyr256Ter) | gnomAD v4 |
19 | g.45804346T>A | CA406404764 | RSPH6A | c.1559A>T (p.Tyr520Phe) c.767A>T (p.Tyr256Phe) | |
19 | g.45804346T>C | CA9522638 | RSPH6A | c.1559A>G (p.Tyr520Cys) c.767A>G (p.Tyr256Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804346T>G | CA406404765 | RSPH6A | c.1559A>C (p.Tyr520Ser) c.767A>C (p.Tyr256Ser) | |
19 | g.45804346T= | CA2338614985 | RSPH6A | c.1559A= (p.Tyr520=) c.767A= (p.Tyr256=) | |
19 | g.45804346_45804353del | CA507965298 | RSPH6A | c.1552_1559del (p.Asp518ArgfsTer?) c.760_767del (p.Asp254ArgfsTer?) | |
19 | g.45804347A>C | CA406404766 | RSPH6A | c.1558T>G (p.Tyr520Asp) c.766T>G (p.Tyr256Asp) | |
19 | g.45804347A>G | CA406404767 | RSPH6A | c.1558T>C (p.Tyr520His) c.766T>C (p.Tyr256His) | COSMIC |
19 | g.45804347A>T | CA406404768 | RSPH6A | c.1558T>A (p.Tyr520Asn) c.766T>A (p.Tyr256Asn) | |
19 | g.45804348G>A | CA507965302 | RSPH6A | c.1557C>T (p.Ser519=) c.765C>T (p.Ser255=) | |
19 | g.45804348G>C | CA507965303 | RSPH6A | c.1557C>G (p.Ser519=) c.765C>G (p.Ser255=) | |
19 | g.45804348G>T | CA507965305 | RSPH6A | c.1557C>A (p.Ser519=) c.765C>A (p.Ser255=) | |
19 | g.45804349del | CA2585869018 | RSPH6A | c.1557del (p.Tyr520ThrfsTer?) c.765del (p.Tyr256ThrfsTer?) | gnomAD v4 |
19 | g.45804349G>A | CA406404769 | RSPH6A | c.1556C>T (p.Ser519Phe) c.764C>T (p.Ser255Phe) | gnomAD v4 COSMIC |
19 | g.45804349G>C | CA406404770 | RSPH6A | c.1556C>G (p.Ser519Cys) c.764C>G (p.Ser255Cys) | |
19 | g.45804349G>T | CA406404771 | RSPH6A | c.1556C>A (p.Ser519Tyr) c.764C>A (p.Ser255Tyr) | |
19 | g.45804350A>C | CA406404774 | RSPH6A | c.1555T>G (p.Ser519Ala) c.763T>G (p.Ser255Ala) | |
19 | g.45804350A>G | CA406404772 | RSPH6A | c.1555T>C (p.Ser519Pro) c.763T>C (p.Ser255Pro) | gnomAD v4 |
19 | g.45804350A>T | CA406404773 | RSPH6A | c.1555T>A (p.Ser519Thr) c.763T>A (p.Ser255Thr) | |
19 | g.45804351G>A | CA507965309 | RSPH6A | c.1554C>T (p.Asp518=) c.762C>T (p.Asp254=) | |
19 | g.45804351G>C | CA406404775 | RSPH6A | c.1554C>G (p.Asp518Glu) c.762C>G (p.Asp254Glu) | |
19 | g.45804351G>T | CA406404776 | RSPH6A | c.1554C>A (p.Asp518Glu) c.762C>A (p.Asp254Glu) | |
19 | g.45804351_45804355delinsGTCGC | CA2338614987 | RSPH6A | c.1550_1554delinsGCGAC (p.Arg517=) c.758_762delinsGCGAC (p.Arg253=) | |
19 | g.45804351_45804357delinsGTCGCGC | CA2338614986 | RSPH6A | c.1548_1554delinsGCGCGAC (p.Gly516=) c.756_762delinsGCGCGAC (p.Gly252=) | |
19 | g.45804352T>A | CA406404777 | RSPH6A | c.1553A>T (p.Asp518Val) c.761A>T (p.Asp254Val) | |
19 | g.45804352T>C | CA406404778 | RSPH6A | c.1553A>G (p.Asp518Gly) c.761A>G (p.Asp254Gly) | |
19 | g.45804352T>G | CA406404779 | RSPH6A | c.1553A>C (p.Asp518Ala) c.761A>C (p.Asp254Ala) | |
19 | g.45804352_45804355del | CA882763146 | RSPH6A | c.1550_1553del (p.Arg517ProfsTer?) c.758_761del (p.Arg253ProfsTer?) | dbSNP |
19 | g.45804352_45804357del | CA9522639 | RSPH6A | c.1548_1553del (p.Arg517_Asp518del) c.756_761del (p.Arg253_Asp254del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804353C>A | CA406404780 | RSPH6A | c.1552G>T (p.Asp518Tyr) c.760G>T (p.Asp254Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804353C= | CA2338614988 | RSPH6A | c.1552G= (p.Asp518=) c.760G= (p.Asp254=) | |
19 | g.45804353C>G | CA406404781 | RSPH6A | c.1552G>C (p.Asp518His) c.760G>C (p.Asp254His) | |
19 | g.45804353C>T | CA406404782 | RSPH6A | c.1552G>A (p.Asp518Asn) c.760G>A (p.Asp254Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.45804354G>A | CA9522640 | RSPH6A | c.1551C>T (p.Arg517=) c.759C>T (p.Arg253=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804354G>C | CA507965317 | RSPH6A | c.1551C>G (p.Arg517=) c.759C>G (p.Arg253=) | |
19 | g.45804354G= | CA2338614989 | RSPH6A | c.1551C= (p.Arg517=) c.759C= (p.Arg253=) | |
19 | g.45804354G>T | CA507965370 | RSPH6A | c.1551C>A (p.Arg517=) c.759C>A (p.Arg253=) | |
19 | g.45804355C>A | CA406404783 | RSPH6A | c.1550G>T (p.Arg517Leu) c.758G>T (p.Arg253Leu) | |
19 | g.45804355C= | CA2338614990 | RSPH6A | c.1550G= (p.Arg517=) c.758G= (p.Arg253=) | |
19 | g.45804355C>G | CA406404784 | RSPH6A | c.1550G>C (p.Arg517Pro) c.758G>C (p.Arg253Pro) | |
19 | g.45804355C>T | CA406404785 | RSPH6A | c.1550G>A (p.Arg517His) c.758G>A (p.Arg253His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.45804356G>A | CA9522641 | RSPH6A | c.1549C>T (p.Arg517Cys) c.757C>T (p.Arg253Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804356G>C | CA406404787 | RSPH6A | c.1549C>G (p.Arg517Gly) c.757C>G (p.Arg253Gly) | |
19 | g.45804356G= | CA2338614991 | RSPH6A | c.1549C= (p.Arg517=) c.757C= (p.Arg253=) | |
19 | g.45804356G>T | CA406404786 | RSPH6A | c.1549C>A (p.Arg517Ser) c.757C>A (p.Arg253Ser) | dbSNP gnomAD v4 |
19 | g.45804357C>A | CA507965376 | RSPH6A | c.1548G>T (p.Gly516=) c.756G>T (p.Gly252=) | dbSNP |
19 | g.45804357C= | CA2338614992 | RSPH6A | c.1548G= (p.Gly516=) c.756G= (p.Gly252=) | |
19 | g.45804357C>G | CA507965380 | RSPH6A | c.1548G>C (p.Gly516=) c.756G>C (p.Gly252=) | |
19 | g.45804357C>T | CA507965381 | RSPH6A | c.1548G>A (p.Gly516=) c.756G>A (p.Gly252=) | |
19 | g.45804357_45804358insAA | CA9522642 | RSPH6A | c.1547_1548insTT (p.Arg517CysfsTer?) c.755_756insTT (p.Arg253CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804358C>A | CA406404788 | RSPH6A | c.1547G>T (p.Gly516Val) c.755G>T (p.Gly252Val) | |
19 | g.45804358C>G | CA406404789 | RSPH6A | c.1547G>C (p.Gly516Ala) c.755G>C (p.Gly252Ala) | |
19 | g.45804358C>T | CA406404790 | RSPH6A | c.1547G>A (p.Gly516Glu) c.755G>A (p.Gly252Glu) | COSMIC |
19 | g.45804359C>A | CA406404791 | RSPH6A | c.1546G>T (p.Gly516Trp) c.754G>T (p.Gly252Trp) | |
19 | g.45804359C= | CA2338614993 | RSPH6A | c.1546G= (p.Gly516=) c.754G= (p.Gly252=) | |
19 | g.45804359C>G | CA406404792 | RSPH6A | c.1546G>C (p.Gly516Arg) c.754G>C (p.Gly252Arg) | |
19 | g.45804359C>T | CA9522643 | RSPH6A | c.1546G>A (p.Gly516Arg) c.754G>A (p.Gly252Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804360A= | CA2338614994 | RSPH6A | c.1545T= (p.Ala515=) c.753T= (p.Ala251=) | |
19 | g.45804360A>C | CA507965382 | RSPH6A | c.1545T>G (p.Ala515=) c.753T>G (p.Ala251=) | |
19 | g.45804360A>G | CA9522644 | RSPH6A | c.1545T>C (p.Ala515=) c.753T>C (p.Ala251=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804360A>T | CA507965383 | RSPH6A | c.1545T>A (p.Ala515=) c.753T>A (p.Ala251=) | dbSNP gnomAD v4 |
19 | g.45804361G>A | CA308997053 | RSPH6A | c.1544C>T (p.Ala515Val) c.752C>T (p.Ala251Val) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804361G>C | CA9522645 | RSPH6A | c.1544C>G (p.Ala515Gly) c.752C>G (p.Ala251Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804361G= | CA2338614995 | RSPH6A | c.1544C= (p.Ala515=) c.752C= (p.Ala251=) | |
19 | g.45804361G>T | CA406404793 | RSPH6A | c.1544C>A (p.Ala515Asp) c.752C>A (p.Ala251Asp) | |
19 | g.45804362C>A | CA406404794 | RSPH6A | c.1543G>T (p.Ala515Ser) c.751G>T (p.Ala251Ser) | |
19 | g.45804362C= | CA2338614997 | RSPH6A | c.1543G= (p.Ala515=) c.751G= (p.Ala251=) | |
19 | g.45804362C>G | CA406404795 | RSPH6A | c.1543G>C (p.Ala515Pro) c.751G>C (p.Ala251Pro) | |
19 | g.45804362C>T | CA9522646 | RSPH6A | c.1543G>A (p.Ala515Thr) c.751G>A (p.Ala251Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45804362dup | CA2338614996 | RSPH6A | c.1543dup (p.Ala515GlyfsTer?) c.751dup (p.Ala251GlyfsTer?) | dbSNP gnomAD v4 |
19 | g.45804363A>C | CA507965385 | RSPH6A | c.1542T>G (p.Gly514=) c.750T>G (p.Gly250=) | |
19 | g.45804363A>G | CA507965389 | RSPH6A | c.1542T>C (p.Gly514=) c.750T>C (p.Gly250=) | |
19 | g.45804363A>T | CA507965387 | RSPH6A | c.1542T>A (p.Gly514=) c.750T>A (p.Gly250=) | |
19 | g.45804364C>A | CA406404797 | RSPH6A | c.1541G>T (p.Gly514Val) c.749G>T (p.Gly250Val) | |
19 | g.45804364C= | CA2338614998 | RSPH6A | c.1541G= (p.Gly514=) c.749G= (p.Gly250=) | |
19 | g.45804364C>G | CA406404796 | RSPH6A | c.1541G>C (p.Gly514Ala) c.749G>C (p.Gly250Ala) | |
19 | g.45804364C>T | CA9522647 | RSPH6A | c.1541G>A (p.Gly514Asp) c.749G>A (p.Gly250Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804365C>A | CA406404798 | RSPH6A | c.1540G>T (p.Gly514Cys) c.748G>T (p.Gly250Cys) | |
19 | g.45804365C>G | CA406404799 | RSPH6A | c.1540G>C (p.Gly514Arg) c.748G>C (p.Gly250Arg) | |
19 | g.45804365C>T | CA406404800 | RSPH6A | c.1540G>A (p.Gly514Ser) c.748G>A (p.Gly250Ser) | gnomAD v4 |
19 | g.45804366A>C | CA507965394 | RSPH6A | c.1539T>G (p.Gly513=) c.747T>G (p.Gly249=) | |
19 | g.45804366A>G | CA507965396 | RSPH6A | c.1539T>C (p.Gly513=) c.747T>C (p.Gly249=) | |
19 | g.45804366A>T | CA507965398 | RSPH6A | c.1539T>A (p.Gly513=) c.747T>A (p.Gly249=) | |
19 | g.45804367C>A | CA9522648 | RSPH6A | c.1538G>T (p.Gly513Val) c.746G>T (p.Gly249Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45804367C= | CA2338614999 | RSPH6A | c.1538G= (p.Gly513=) c.746G= (p.Gly249=) | |
19 | g.45804367C>G | CA406404801 | RSPH6A | c.1538G>C (p.Gly513Ala) c.746G>C (p.Gly249Ala) | |
19 | g.45804367C>T | CA9522649 | RSPH6A | c.1538G>A (p.Gly513Asp) c.746G>A (p.Gly249Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804368C>A | CA406404802 | RSPH6A | c.1537G>T (p.Gly513Cys) c.745G>T (p.Gly249Cys) | |
19 | g.45804368C>G | CA406404803 | RSPH6A | c.1537G>C (p.Gly513Arg) c.745G>C (p.Gly249Arg) | |
19 | g.45804368C>T | CA406404804 | RSPH6A | c.1537G>A (p.Gly513Ser) c.745G>A (p.Gly249Ser) | |
19 | g.45804369T>A | CA406404805 | RSPH6A | c.1536A>T (p.Glu512Asp) c.744A>T (p.Glu248Asp) | |
19 | g.45804369T>C | CA507965405 | RSPH6A | c.1536A>G (p.Glu512=) c.744A>G (p.Glu248=) | |
19 | g.45804369T>G | CA406404806 | RSPH6A | c.1536A>C (p.Glu512Asp) c.744A>C (p.Glu248Asp) | |
19 | g.45804369_45804372delinsTTCC | CA2338615000 | RSPH6A | c.1533_1536delinsGGAA (p.Glu511=) c.741_744delinsGGAA (p.Glu247=) | |
19 | g.45804370T>A | CA406404808 | RSPH6A | c.1535A>T (p.Glu512Val) c.743A>T (p.Glu248Val) | |
19 | g.45804370T>C | CA406404809 | RSPH6A | c.1535A>G (p.Glu512Gly) c.743A>G (p.Glu248Gly) | |
19 | g.45804370T>G | CA406404807 | RSPH6A | c.1535A>C (p.Glu512Ala) c.743A>C (p.Glu248Ala) | |
19 | g.45804378_45804380del | CA9522650 | RSPH6A | c.1533_1535del (p.Glu512del) c.741_743del (p.Glu248del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804371C>A | CA406404810 | RSPH6A | c.1534G>T (p.Glu512Ter) c.742G>T (p.Glu248Ter) | |
19 | g.45804371C>G | CA406404811 | RSPH6A | c.1534G>C (p.Glu512Gln) c.742G>C (p.Glu248Gln) | |
19 | g.45804371C>T | CA406404812 | RSPH6A | c.1534G>A (p.Glu512Lys) c.742G>A (p.Glu248Lys) | |
19 | g.45804372C>A | CA406404813 | RSPH6A | c.1533G>T (p.Glu511Asp) c.741G>T (p.Glu247Asp) | |
19 | g.45804372C= | CA2338615001 | RSPH6A | c.1533G= (p.Glu511=) c.741G= (p.Glu247=) | |
19 | g.45804372C>G | CA406404814 | RSPH6A | c.1533G>C (p.Glu511Asp) c.741G>C (p.Glu247Asp) | |
19 | g.45804372C>T | CA9522651 | RSPH6A | c.1533G>A (p.Glu511=) c.741G>A (p.Glu247=) | dbSNP ExAC gnomAD v2 |
19 | g.45804373T>A | CA406404817 | RSPH6A | c.1532A>T (p.Glu511Val) c.740A>T (p.Glu247Val) | |
19 | g.45804373T>C | CA406404815 | RSPH6A | c.1532A>G (p.Glu511Gly) c.740A>G (p.Glu247Gly) | |
19 | g.45804373T>G | CA406404816 | RSPH6A | c.1532A>C (p.Glu511Ala) c.740A>C (p.Glu247Ala) | dbSNP |
19 | g.45804373T= | CA2338615002 | RSPH6A | c.1532A= (p.Glu511=) c.740A= (p.Glu247=) | |
19 | g.45804374C>A | CA406404818 | RSPH6A | c.1531G>T (p.Glu511Ter) c.739G>T (p.Glu247Ter) | |
19 | g.45804374C= | CA2338615003 | RSPH6A | c.1531G= (p.Glu511=) c.739G= (p.Glu247=) | |
19 | g.45804374C>G | CA406404819 | RSPH6A | c.1531G>C (p.Glu511Gln) c.739G>C (p.Glu247Gln) | |
19 | g.45804374C>T | CA308997068 | RSPH6A | c.1531G>A (p.Glu511Lys) c.739G>A (p.Glu247Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804375C>A | CA406404820 | RSPH6A | c.1530G>T (p.Glu510Asp) c.738G>T (p.Glu246Asp) | |
19 | g.45804375C>G | CA406404821 | RSPH6A | c.1530G>C (p.Glu510Asp) c.738G>C (p.Glu246Asp) | |
19 | g.45804375C>T | CA507965419 | RSPH6A | c.1530G>A (p.Glu510=) c.738G>A (p.Glu246=) | |
19 | g.45804376T>A | CA406404822 | RSPH6A | c.1529A>T (p.Glu510Val) c.737A>T (p.Glu246Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804376T>C | CA406404824 | RSPH6A | c.1529A>G (p.Glu510Gly) c.737A>G (p.Glu246Gly) | |
19 | g.45804376T>G | CA406404823 | RSPH6A | c.1529A>C (p.Glu510Ala) c.737A>C (p.Glu246Ala) | |
19 | g.45804376T= | CA2338615004 | RSPH6A | c.1529A= (p.Glu510=) c.737A= (p.Glu246=) | |
19 | g.45804377C>A | CA406404825 | RSPH6A | c.1528G>T (p.Glu510Ter) c.736G>T (p.Glu246Ter) | |
19 | g.45804377C= | CA2338615005 | RSPH6A | c.1528G= (p.Glu510=) c.736G= (p.Glu246=) | |
19 | g.45804377C>G | CA406404826 | RSPH6A | c.1528G>C (p.Glu510Gln) c.736G>C (p.Glu246Gln) | |
19 | g.45804377C>T | CA406404827 | RSPH6A | c.1528G>A (p.Glu510Lys) c.736G>A (p.Glu246Lys) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804378C>A | CA406404828 | RSPH6A | c.1527G>T (p.Glu509Asp) c.735G>T (p.Glu245Asp) | |
19 | g.45804378C= | CA2338615006 | RSPH6A | c.1527G= (p.Glu509=) c.735G= (p.Glu245=) | |
19 | g.45804378C>G | CA9522652 | RSPH6A | c.1527G>C (p.Glu509Asp) c.735G>C (p.Glu245Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45804378C>T | CA507965424 | RSPH6A | c.1527G>A (p.Glu509=) c.735G>A (p.Glu245=) | |
19 | g.45804379T>A | CA406404829 | RSPH6A | c.1526A>T (p.Glu509Val) c.734A>T (p.Glu245Val) | |
19 | g.45804379T>C | CA406404830 | RSPH6A | c.1526A>G (p.Glu509Gly) c.734A>G (p.Glu245Gly) | gnomAD v4 |
19 | g.45804379T>G | CA406404831 | RSPH6A | c.1526A>C (p.Glu509Ala) c.734A>C (p.Glu245Ala) | |
19 | g.45804380C>A | CA406404832 | RSPH6A | c.1525G>T (p.Glu509Ter) c.733G>T (p.Glu245Ter) | |
19 | g.45804380C= | CA2338615007 | RSPH6A | c.1525G= (p.Glu509=) c.733G= (p.Glu245=) | |
19 | g.45804380C>G | CA406404833 | RSPH6A | c.1525G>C (p.Glu509Gln) c.733G>C (p.Glu245Gln) | |
19 | g.45804380C>T | CA9522653 | RSPH6A | c.1525G>A (p.Glu509Lys) c.733G>A (p.Glu245Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.45804381G>A | CA9522654 | RSPH6A | c.1524C>T (p.Asp508=) c.732C>T (p.Asp244=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.45804381G>C | CA406404835 | RSPH6A | c.1524C>G (p.Asp508Glu) c.732C>G (p.Asp244Glu) | |
19 | g.45804381G= | CA2338615008 | RSPH6A | c.1524C= (p.Asp508=) c.732C= (p.Asp244=) | |
19 | g.45804381G>T | CA406404834 | RSPH6A | c.1524C>A (p.Asp508Glu) c.732C>A (p.Asp244Glu) | |
19 | g.45804382T>A | CA406404836 | RSPH6A | c.1523A>T (p.Asp508Val) c.731A>T (p.Asp244Val) | |
19 | g.45804382T>C | CA406404838 | RSPH6A | c.1523A>G (p.Asp508Gly) c.731A>G (p.Asp244Gly) | |
19 | g.45804382T>G | CA406404837 | RSPH6A | c.1523A>C (p.Asp508Ala) c.731A>C (p.Asp244Ala) | |
19 | g.45804383C>A | CA406404839 | RSPH6A | c.1522G>T (p.Asp508Tyr) c.730G>T (p.Asp244Tyr) | gnomAD v4 |
19 | g.45804383C= | CA2338615009 | RSPH6A | c.1522G= (p.Asp508=) c.730G= (p.Asp244=) | |
19 | g.45804383C>G | CA406404840 | RSPH6A | c.1522G>C (p.Asp508His) c.730G>C (p.Asp244His) | |
19 | g.45804383C>T | CA9522655 | RSPH6A | c.1522G>A (p.Asp508Asn) c.730G>A (p.Asp244Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.45804384G>A | CA507965433 | RSPH6A | c.1521C>T (p.Gly507=) c.729C>T (p.Gly243=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804384G>C | CA507965434 | RSPH6A | c.1521C>G (p.Gly507=) c.729C>G (p.Gly243=) | |
19 | g.45804384G= | CA2338615010 | RSPH6A | c.1521C= (p.Gly507=) c.729C= (p.Gly243=) | |
19 | g.45804384G>T | CA507965435 | RSPH6A | c.1521C>A (p.Gly507=) c.729C>A (p.Gly243=) | gnomAD v4 |
19 | g.45804385C>A | CA406404841 | RSPH6A | c.1520G>T (p.Gly507Val) c.728G>T (p.Gly243Val) | |
19 | g.45804385C= | CA2338615011 | RSPH6A | c.1520G= (p.Gly507=) c.728G= (p.Gly243=) | |
19 | g.45804385C>G | CA406404843 | RSPH6A | c.1520G>C (p.Gly507Ala) c.728G>C (p.Gly243Ala) | |
19 | g.45804385C>T | CA406404842 | RSPH6A | c.1520G>A (p.Gly507Asp) c.728G>A (p.Gly243Asp) | dbSNP |
19 | g.45804385_45804388delinsCCCT | CA2338615012 | RSPH6A | c.1517_1520delinsAGGG (p.Glu506=) c.725_728delinsAGGG (p.Glu242=) | |
19 | g.45804386C>A | CA406404844 | RSPH6A | c.1519G>T (p.Gly507Cys) c.727G>T (p.Gly243Cys) | |
19 | g.45804386C= | CA2338615013 | RSPH6A | c.1519G= (p.Gly507=) c.727G= (p.Gly243=) | |
19 | g.45804386C>G | CA406404845 | RSPH6A | c.1519G>C (p.Gly507Arg) c.727G>C (p.Gly243Arg) | |
19 | g.45804386C>T | CA9522656 | RSPH6A | c.1519G>A (p.Gly507Ser) c.727G>A (p.Gly243Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804393_45804395del | CA308997077 | RSPH6A | c.1517_1519del (p.Glu506del) c.725_727del (p.Glu242del) | dbSNP gnomAD v4 |
19 | g.45804387C>A | CA406404846 | RSPH6A | c.1518G>T (p.Glu506Asp) c.726G>T (p.Glu242Asp) | |
19 | g.45804387C>G | CA406404847 | RSPH6A | c.1518G>C (p.Glu506Asp) c.726G>C (p.Glu242Asp) | |
19 | g.45804387C>T | CA507965438 | RSPH6A | c.1518G>A (p.Glu506=) c.726G>A (p.Glu242=) | |
19 | g.45804388T>A | CA406404848 | RSPH6A | c.1517A>T (p.Glu506Val) c.725A>T (p.Glu242Val) | |
19 | g.45804388T>C | CA406404849 | RSPH6A | c.1517A>G (p.Glu506Gly) c.725A>G (p.Glu242Gly) | |
19 | g.45804388T>G | CA406404850 | RSPH6A | c.1517A>C (p.Glu506Ala) c.725A>C (p.Glu242Ala) | |
19 | g.45804389C>A | CA406404851 | RSPH6A | c.1516G>T (p.Glu506Ter) c.724G>T (p.Glu242Ter) | |
19 | g.45804389C>G | CA406404852 | RSPH6A | c.1516G>C (p.Glu506Gln) c.724G>C (p.Glu242Gln) | |
19 | g.45804389C>T | CA406404853 | RSPH6A | c.1516G>A (p.Glu506Lys) c.724G>A (p.Glu242Lys) | |
19 | g.45804390C>A | CA406404855 | RSPH6A | c.1515G>T (p.Glu505Asp) c.723G>T (p.Glu241Asp) | |
19 | g.45804390C>G | CA406404854 | RSPH6A | c.1515G>C (p.Glu505Asp) c.723G>C (p.Glu241Asp) | |
19 | g.45804390C>T | CA507965443 | RSPH6A | c.1515G>A (p.Glu505=) c.723G>A (p.Glu241=) | gnomAD v4 |
19 | g.45804391T>A | CA406404856 | RSPH6A | c.1514A>T (p.Glu505Val) c.722A>T (p.Glu241Val) | ClinVar dbSNP gnomAD v4 |
19 | g.45804391T>C | CA406404857 | RSPH6A | c.1514A>G (p.Glu505Gly) c.722A>G (p.Glu241Gly) | |
19 | g.45804391T>G | CA406404858 | RSPH6A | c.1514A>C (p.Glu505Ala) c.722A>C (p.Glu241Ala) | |
19 | g.45804391T= | CA2338615014 | RSPH6A | c.1514A= (p.Glu505=) c.722A= (p.Glu241=) | |
19 | g.45804392C>A | CA406404859 | RSPH6A | c.1513G>T (p.Glu505Ter) c.721G>T (p.Glu241Ter) | |
19 | g.45804392C= | CA2338615015 | RSPH6A | c.1513G= (p.Glu505=) c.721G= (p.Glu241=) | |
19 | g.45804392C>G | CA406404860 | RSPH6A | c.1513G>C (p.Glu505Gln) c.721G>C (p.Glu241Gln) | |
19 | g.45804392C>T | CA308997080 | RSPH6A | c.1513G>A (p.Glu505Lys) c.721G>A (p.Glu241Lys) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804393C>A | CA406404861 | RSPH6A | c.1512G>T (p.Glu504Asp) c.720G>T (p.Glu240Asp) | |
19 | g.45804393C>G | CA406404862 | RSPH6A | c.1512G>C (p.Glu504Asp) c.720G>C (p.Glu240Asp) | |
19 | g.45804393C>T | CA507965448 | RSPH6A | c.1512G>A (p.Glu504=) c.720G>A (p.Glu240=) | |
19 | g.45804394T>A | CA406404863 | RSPH6A | c.1511A>T (p.Glu504Val) c.719A>T (p.Glu240Val) | |
19 | g.45804394T>C | CA406404864 | RSPH6A | c.1511A>G (p.Glu504Gly) c.719A>G (p.Glu240Gly) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804394T>G | CA406404865 | RSPH6A | c.1511A>C (p.Glu504Ala) c.719A>C (p.Glu240Ala) | |
19 | g.45804394T= | CA2338615016 | RSPH6A | c.1511A= (p.Glu504=) c.719A= (p.Glu240=) | |
19 | g.45804395C>A | CA406404867 | RSPH6A | c.1510G>T (p.Glu504Ter) c.718G>T (p.Glu240Ter) | |
19 | g.45804395C>G | CA406404868 | RSPH6A | c.1510G>C (p.Glu504Gln) c.718G>C (p.Glu240Gln) | |
19 | g.45804395C>T | CA406404866 | RSPH6A | c.1510G>A (p.Glu504Lys) c.718G>A (p.Glu240Lys) | |
19 | g.45804396A>C | CA406404869 | RSPH6A | c.1509T>G (p.Ser503Arg) c.717T>G (p.Ser239Arg) | |
19 | g.45804396A>G | CA507965452 | RSPH6A | c.1509T>C (p.Ser503=) c.717T>C (p.Ser239=) | |
19 | g.45804396A>T | CA406404870 | RSPH6A | c.1509T>A (p.Ser503Arg) c.717T>A (p.Ser239Arg) | |
19 | g.45804397C>A | CA406404871 | RSPH6A | c.1508G>T (p.Ser503Ile) c.716G>T (p.Ser239Ile) | |
19 | g.45804397C= | CA2338615017 | RSPH6A | c.1508G= (p.Ser503=) c.716G= (p.Ser239=) | |
19 | g.45804397C>G | CA406404872 | RSPH6A | c.1508G>C (p.Ser503Thr) c.716G>C (p.Ser239Thr) | |
19 | g.45804397C>T | CA406404873 | RSPH6A | c.1508G>A (p.Ser503Asn) c.716G>A (p.Ser239Asn) | dbSNP |
19 | g.45804398T>A | CA406404876 | RSPH6A | c.1507A>T (p.Ser503Cys) c.715A>T (p.Ser239Cys) | |
19 | g.45804398T>C | CA406404874 | RSPH6A | c.1507A>G (p.Ser503Gly) c.715A>G (p.Ser239Gly) | |
19 | g.45804398T>G | CA406404875 | RSPH6A | c.1507A>C (p.Ser503Arg) c.715A>C (p.Ser239Arg) | |
19 | g.45804398_45804401del | CA2585869019 | RSPH6A | c.1504_1507del (p.Phe502ValfsTer?) c.712_715del (p.Phe238ValfsTer?) | gnomAD v4 |
19 | g.45804399A= | CA2338615018 | RSPH6A | c.1506T= (p.Phe502=) c.714T= (p.Phe238=) | |
19 | g.45804399A>C | CA406404877 | RSPH6A | c.1506T>G (p.Phe502Leu) c.714T>G (p.Phe238Leu) | gnomAD v4 |
19 | g.45804399A>G | CA507965455 | RSPH6A | c.1506T>C (p.Phe502=) c.714T>C (p.Phe238=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804399A>T | CA406404878 | RSPH6A | c.1506T>A (p.Phe502Leu) c.714T>A (p.Phe238Leu) | |
19 | g.45804400A>C | CA406404879 | RSPH6A | c.1505T>G (p.Phe502Cys) c.713T>G (p.Phe238Cys) | |
19 | g.45804400A>G | CA406404880 | RSPH6A | c.1505T>C (p.Phe502Ser) c.713T>C (p.Phe238Ser) | |
19 | g.45804400A>T | CA406404881 | RSPH6A | c.1505T>A (p.Phe502Tyr) c.713T>A (p.Phe238Tyr) | |
19 | g.45804401A>C | CA406404882 | RSPH6A | c.1504T>G (p.Phe502Val) c.712T>G (p.Phe238Val) | |
19 | g.45804401A>G | CA406404884 | RSPH6A | c.1504T>C (p.Phe502Leu) c.712T>C (p.Phe238Leu) | |
19 | g.45804401A>T | CA406404883 | RSPH6A | c.1504T>A (p.Phe502Ile) c.712T>A (p.Phe238Ile) | gnomAD v4 |
19 | g.45804402C>A | CA406404885 | RSPH6A | c.1503G>T (p.Gln501His) c.711G>T (p.Gln237His) | |
19 | g.45804402C= | CA2338615019 | RSPH6A | c.1503G= (p.Gln501=) c.711G= (p.Gln237=) | |
19 | g.45804402C>G | CA406404886 | RSPH6A | c.1503G>C (p.Gln501His) c.711G>C (p.Gln237His) | |
19 | g.45804402C>T | CA9522657 | RSPH6A | c.1503G>A (p.Gln501=) c.711G>A (p.Gln237=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45804403T>A | CA406404887 | RSPH6A | c.1502A>T (p.Gln501Leu) c.710A>T (p.Gln237Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804403T>C | CA406404888 | RSPH6A | c.1502A>G (p.Gln501Arg) c.710A>G (p.Gln237Arg) | gnomAD v4 |
19 | g.45804403T>G | CA406404889 | RSPH6A | c.1502A>C (p.Gln501Pro) c.710A>C (p.Gln237Pro) | |
19 | g.45804403_45804404del | CA2585869020 | RSPH6A | c.1501_1502del (p.Gln501ValfsTer2) c.709_710del (p.Gln237ValfsTer2) | gnomAD v4 |
19 | g.45804404G>A | CA406404890 | RSPH6A | c.1501C>T (p.Gln501Ter) c.709C>T (p.Gln237Ter) | gnomAD v4 |
19 | g.45804404G>C | CA406404891 | RSPH6A | c.1501C>G (p.Gln501Glu) c.709C>G (p.Gln237Glu) | |
19 | g.45804404G>T | CA406404892 | RSPH6A | c.1501C>A (p.Gln501Lys) c.709C>A (p.Gln237Lys) | |
19 | g.45804405G>A | CA507965461 | RSPH6A | c.1500C>T (p.Tyr500=) c.708C>T (p.Tyr236=) | |
19 | g.45804405G>C | CA406404893 | RSPH6A | c.1500C>G (p.Tyr500Ter) c.708C>G (p.Tyr236Ter) | gnomAD v4 |
19 | g.45804405G>T | CA406404894 | RSPH6A | c.1500C>A (p.Tyr500Ter) c.708C>A (p.Tyr236Ter) | |
19 | g.45804406T>A | CA406404897 | RSPH6A | c.1499A>T (p.Tyr500Phe) c.707A>T (p.Tyr236Phe) | |
19 | g.45804406T>C | CA406404896 | RSPH6A | c.1499A>G (p.Tyr500Cys) c.707A>G (p.Tyr236Cys) | |
19 | g.45804406T>G | CA406404895 | RSPH6A | c.1499A>C (p.Tyr500Ser) c.707A>C (p.Tyr236Ser) | |
19 | g.45804407A>C | CA406404898 | RSPH6A | c.1498T>G (p.Tyr500Asp) c.706T>G (p.Tyr236Asp) | |
19 | g.45804407A>G | CA406404900 | RSPH6A | c.1498T>C (p.Tyr500His) c.706T>C (p.Tyr236His) | gnomAD v4 |
19 | g.45804407A>T | CA406404899 | RSPH6A | c.1498T>A (p.Tyr500Asn) c.706T>A (p.Tyr236Asn) | |
19 | g.45804409_45804411del | CA2585869021 | RSPH6A | c.1496_1498del (p.Phe499del) c.704_706del (p.Phe235del) | gnomAD v4 |
19 | g.45804408G>A | CA507965464 | RSPH6A | c.1497C>T (p.Phe499=) c.705C>T (p.Phe235=) | |
19 | g.45804408G>C | CA406404901 | RSPH6A | c.1497C>G (p.Phe499Leu) c.705C>G (p.Phe235Leu) | |
19 | g.45804408G>T | CA406404902 | RSPH6A | c.1497C>A (p.Phe499Leu) c.705C>A (p.Phe235Leu) | |
19 | g.45804409A= | CA2338615020 | RSPH6A | c.1496T= (p.Phe499=) c.704T= (p.Phe235=) | |
19 | g.45804409A>C | CA9522658 | RSPH6A | c.1496T>G (p.Phe499Cys) c.704T>G (p.Phe235Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.45804409A>G | CA406404903 | RSPH6A | c.1496T>C (p.Phe499Ser) c.704T>C (p.Phe235Ser) | |
19 | g.45804409A>T | CA406404904 | RSPH6A | c.1496T>A (p.Phe499Tyr) c.704T>A (p.Phe235Tyr) | |
19 | g.45804410A>C | CA406404905 | RSPH6A | c.1495T>G (p.Phe499Val) c.703T>G (p.Phe235Val) | |
19 | g.45804410A>G | CA406404906 | RSPH6A | c.1495T>C (p.Phe499Leu) c.703T>C (p.Phe235Leu) | |
19 | g.45804410A>T | CA406404907 | RSPH6A | c.1495T>A (p.Phe499Ile) c.703T>A (p.Phe235Ile) | |
19 | g.45804411G>A | CA308997084 | RSPH6A | c.1494C>T (p.Gly498=) c.702C>T (p.Gly234=) | dbSNP gnomAD v4 |
19 | g.45804411G>C | CA507965467 | RSPH6A | c.1494C>G (p.Gly498=) c.702C>G (p.Gly234=) | gnomAD v4 |
19 | g.45804411G= | CA2338615021 | RSPH6A | c.1494C= (p.Gly498=) c.702C= (p.Gly234=) | |
19 | g.45804411G>T | CA507965468 | RSPH6A | c.1494C>A (p.Gly498=) c.702C>A (p.Gly234=) | |
19 | g.45804412C>A | CA406404908 | RSPH6A | c.1493G>T (p.Gly498Val) c.701G>T (p.Gly234Val) | dbSNP gnomAD v4 |
19 | g.45804412C= | CA2338615022 | RSPH6A | c.1493G= (p.Gly498=) c.701G= (p.Gly234=) | |
19 | g.45804412C>G | CA406404909 | RSPH6A | c.1493G>C (p.Gly498Ala) c.701G>C (p.Gly234Ala) | |
19 | g.45804412C>T | CA406404910 | RSPH6A | c.1493G>A (p.Gly498Asp) c.701G>A (p.Gly234Asp) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804413C>A | CA406404913 | RSPH6A | c.1492G>T (p.Gly498Cys) c.700G>T (p.Gly234Cys) | |
19 | g.45804413C>G | CA406404912 | RSPH6A | c.1492G>C (p.Gly498Arg) c.700G>C (p.Gly234Arg) | |
19 | g.45804413C>T | CA406404911 | RSPH6A | c.1492G>A (p.Gly498Ser) c.700G>A (p.Gly234Ser) | |
19 | g.45804414C>A | CA507965473 | RSPH6A | c.1491G>T (p.Leu497=) c.699G>T (p.Leu233=) | |
19 | g.45804414C>G | CA507965474 | RSPH6A | c.1491G>C (p.Leu497=) c.699G>C (p.Leu233=) | |
19 | g.45804414C>T | CA507965472 | RSPH6A | c.1491G>A (p.Leu497=) c.699G>A (p.Leu233=) | |
19 | g.45804415A>C | CA406404914 | RSPH6A | c.1490T>G (p.Leu497Arg) c.698T>G (p.Leu233Arg) | |
19 | g.45804415A>G | CA406404915 | RSPH6A | c.1490T>C (p.Leu497Pro) c.698T>C (p.Leu233Pro) | |
19 | g.45804415A>T | CA406404916 | RSPH6A | c.1490T>A (p.Leu497Gln) c.698T>A (p.Leu233Gln) | |
19 | g.45804416G>A | CA507965476 | RSPH6A | c.1489C>T (p.Leu497=) c.697C>T (p.Leu233=) | |
19 | g.45804416G>C | CA406404917 | RSPH6A | c.1489C>G (p.Leu497Val) c.697C>G (p.Leu233Val) | |
19 | g.45804416G>T | CA406404918 | RSPH6A | c.1489C>A (p.Leu497Met) c.697C>A (p.Leu233Met) | gnomAD v4 |
19 | g.45804417C>A | CA507965478 | RSPH6A | c.1488G>T (p.Pro496=) c.696G>T (p.Pro232=) | |
19 | g.45804417C= | CA2338615023 | RSPH6A | c.1488G= (p.Pro496=) c.696G= (p.Pro232=) | |
19 | g.45804417C>G | CA507965477 | RSPH6A | c.1488G>C (p.Pro496=) c.696G>C (p.Pro232=) | |
19 | g.45804417C>T | CA9522659 | RSPH6A | c.1488G>A (p.Pro496=) c.696G>A (p.Pro232=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804418G>A | CA9522660 | RSPH6A | c.1487C>T (p.Pro496Leu) c.695C>T (p.Pro232Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804418G>C | CA406404919 | RSPH6A | c.1487C>G (p.Pro496Arg) c.695C>G (p.Pro232Arg) | |
19 | g.45804418G= | CA2338615024 | RSPH6A | c.1487C= (p.Pro496=) c.695C= (p.Pro232=) | |
19 | g.45804418G>T | CA406404920 | RSPH6A | c.1487C>A (p.Pro496Gln) c.695C>A (p.Pro232Gln) | |
19 | g.45804419G>A | CA406404921 | RSPH6A | c.1486C>T (p.Pro496Ser) c.694C>T (p.Pro232Ser) | |
19 | g.45804419G>C | CA406404922 | RSPH6A | c.1486C>G (p.Pro496Ala) c.694C>G (p.Pro232Ala) | |
19 | g.45804419G>T | CA406404923 | RSPH6A | c.1486C>A (p.Pro496Thr) c.694C>A (p.Pro232Thr) | |
19 | g.45804420G>A | CA507965480 | RSPH6A | c.1485C>T (p.Ser495=) c.693C>T (p.Ser231=) | |
19 | g.45804420G>C | CA406404925 | RSPH6A | c.1485C>G (p.Ser495Arg) c.693C>G (p.Ser231Arg) | |
19 | g.45804420G>T | CA406404924 | RSPH6A | c.1485C>A (p.Ser495Arg) c.693C>A (p.Ser231Arg) | |
19 | g.45804422_45804429del | CA2585869022 | RSPH6A | c.1478_1485del (p.Gln493ProfsTer8) c.686_693del (p.Gln229ProfsTer8) | gnomAD v4 |
19 | g.45804421C>A | CA406404926 | RSPH6A | c.1484G>T (p.Ser495Ile) c.692G>T (p.Ser231Ile) | |
19 | g.45804421C= | CA2338615025 | RSPH6A | c.1484G= (p.Ser495=) c.692G= (p.Ser231=) | |
19 | g.45804421C>G | CA406404927 | RSPH6A | c.1484G>C (p.Ser495Thr) c.692G>C (p.Ser231Thr) | gnomAD v4 |
19 | g.45804421C>T | CA308997090 | RSPH6A | c.1484G>A (p.Ser495Asn) c.692G>A (p.Ser231Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804422T>A | CA406404928 | RSPH6A | c.1483A>T (p.Ser495Cys) c.691A>T (p.Ser231Cys) | |
19 | g.45804422T>C | CA406404929 | RSPH6A | c.1483A>G (p.Ser495Gly) c.691A>G (p.Ser231Gly) | gnomAD v4 |
19 | g.45804422T>G | CA406404930 | RSPH6A | c.1483A>C (p.Ser495Arg) c.691A>C (p.Ser231Arg) | |
19 | g.45804423G>A | CA507965485 | RSPH6A | c.1482C>T (p.Val494=) c.690C>T (p.Val230=) | |
19 | g.45804423G>C | CA507965487 | RSPH6A | c.1482C>G (p.Val494=) c.690C>G (p.Val230=) | |
19 | g.45804423G>T | CA507965488 | RSPH6A | c.1482C>A (p.Val494=) c.690C>A (p.Val230=) | dbSNP |
19 | g.45804424A= | CA2338615026 | RSPH6A | c.1481T= (p.Val494=) c.689T= (p.Val230=) | |
19 | g.45804424A>C | CA406404931 | RSPH6A | c.1481T>G (p.Val494Gly) c.689T>G (p.Val230Gly) | dbSNP |
19 | g.45804424A>G | CA406404932 | RSPH6A | c.1481T>C (p.Val494Ala) c.689T>C (p.Val230Ala) | |
19 | g.45804424A>T | CA406404933 | RSPH6A | c.1481T>A (p.Val494Asp) c.689T>A (p.Val230Asp) | |
19 | g.45804425C>A | CA406404934 | RSPH6A | c.1480G>T (p.Val494Phe) c.688G>T (p.Val230Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804425C= | CA2338615028 | RSPH6A | c.1480G= (p.Val494=) c.688G= (p.Val230=) | |
19 | g.45804425C>G | CA406404935 | RSPH6A | c.1480G>C (p.Val494Leu) c.688G>C (p.Val230Leu) | |
19 | g.45804425C>T | CA406404936 | RSPH6A | c.1480G>A (p.Val494Ile) c.688G>A (p.Val230Ile) | |
19 | g.45804425_45804433delinsCCTGCGTGG | CA2338615027 | RSPH6A | c.1472_1480delinsCCACGCAGG (p.Ala491=) c.680_688delinsCCACGCAGG (p.Ala227=) | |
19 | g.45804426C>A | CA406404937 | RSPH6A | c.1479G>T (p.Gln493His) c.687G>T (p.Gln229His) | |
19 | g.45804426C>G | CA406404938 | RSPH6A | c.1479G>C (p.Gln493His) c.687G>C (p.Gln229His) | |
19 | g.45804426C>T | CA507965491 | RSPH6A | c.1479G>A (p.Gln493=) c.687G>A (p.Gln229=) | |
19 | g.45804427_45804434del | CA9522661 | RSPH6A | c.1472_1479del (p.Ala491GlyfsTer10) c.680_687del (p.Ala227GlyfsTer10) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804427T>A | CA406404939 | RSPH6A | c.1478A>T (p.Gln493Leu) c.686A>T (p.Gln229Leu) | |
19 | g.45804427T>C | CA406404940 | RSPH6A | c.1478A>G (p.Gln493Arg) c.686A>G (p.Gln229Arg) | |
19 | g.45804427T>G | CA406404941 | RSPH6A | c.1478A>C (p.Gln493Pro) c.686A>C (p.Gln229Pro) | gnomAD v4 |
19 | g.45804428G>A | CA406404942 | RSPH6A | c.1477C>T (p.Gln493Ter) c.685C>T (p.Gln229Ter) | |
19 | g.45804428G>C | CA406404943 | RSPH6A | c.1477C>G (p.Gln493Glu) c.685C>G (p.Gln229Glu) | dbSNP |
19 | g.45804428G= | CA2338615029 | RSPH6A | c.1477C= (p.Gln493=) c.685C= (p.Gln229=) | |
19 | g.45804428G>T | CA406404944 | RSPH6A | c.1477C>A (p.Gln493Lys) c.685C>A (p.Gln229Lys) | |
19 | g.45804429C>A | CA507965497 | RSPH6A | c.1476G>T (p.Thr492=) c.684G>T (p.Thr228=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804429C= | CA2338615030 | RSPH6A | c.1476G= (p.Thr492=) c.684G= (p.Thr228=) | |
19 | g.45804429C>G | CA507965499 | RSPH6A | c.1476G>C (p.Thr492=) c.684G>C (p.Thr228=) | |
19 | g.45804429C>T | CA308997094 | RSPH6A | c.1476G>A (p.Thr492=) c.684G>A (p.Thr228=) | dbSNP gnomAD v4 |
19 | g.45804430G>A | CA9522662 | RSPH6A | c.1475C>T (p.Thr492Met) c.683C>T (p.Thr228Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.45804430G>C | CA406404945 | RSPH6A | c.1475C>G (p.Thr492Arg) c.683C>G (p.Thr228Arg) | |
19 | g.45804430G= | CA2338615031 | RSPH6A | c.1475C= (p.Thr492=) c.683C= (p.Thr228=) | |
19 | g.45804430G>T | CA9522663 | RSPH6A | c.1475C>A (p.Thr492Lys) c.683C>A (p.Thr228Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.45804431T>A | CA406404946 | RSPH6A | c.1474A>T (p.Thr492Ser) c.682A>T (p.Thr228Ser) | |
19 | g.45804431T>C | CA406404947 | RSPH6A | c.1474A>G (p.Thr492Ala) c.682A>G (p.Thr228Ala) | dbSNP gnomAD v2 |
19 | g.45804431T>G | CA406404948 | RSPH6A | c.1474A>C (p.Thr492Pro) c.682A>C (p.Thr228Pro) | |
19 | g.45804431T= | CA2338615032 | RSPH6A | c.1474A= (p.Thr492=) c.682A= (p.Thr228=) | |
19 | g.45804432G>A | CA507965505 | RSPH6A | c.1473C>T (p.Ala491=) c.681C>T (p.Ala227=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.45804432G>C | CA507965507 | RSPH6A | c.1473C>G (p.Ala491=) c.681C>G (p.Ala227=) | dbSNP |
19 | g.45804432G= | CA2338615033 | RSPH6A | c.1473C= (p.Ala491=) c.681C= (p.Ala227=) | |
19 | g.45804432G>T | CA507965509 | RSPH6A | c.1473C>A (p.Ala491=) c.681C>A (p.Ala227=) |