Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44255661G>ACA8600198SLC4A1c.1800+12C>T (n.1800+12C>T)
c.778-440C>T (n.778-440C>T)
c.1605+12C>T (n.1605+12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255661G=CA2261308768SLC4A1c.1800+12C= (n.1800+12C=)
c.778-440C= (n.778-440C=)
c.1605+12C= (n.1605+12C=)
17g.44255662G>ACA8600199SLC4A1c.1800+11C>T (n.1800+11C>T)
c.778-441C>T (n.778-441C>T)
c.1605+11C>T (n.1605+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255662G>CCA2638191826SLC4A1c.1800+11C>G (n.1800+11C>G)
c.778-441C>G (n.778-441C>G)
c.1605+11C>G (n.1605+11C>G)
 gnomAD v4
17g.44255662G=CA2261308769SLC4A1c.1800+11C= (n.1800+11C=)
c.778-441C= (n.778-441C=)
c.1605+11C= (n.1605+11C=)
17g.44255663G=CA2261308770SLC4A1c.1800+10C= (n.1800+10C=)
c.778-442C= (n.778-442C=)
c.1605+10C= (n.1605+10C=)
17g.44255663G>TCA8600200SLC4A1c.1800+10C>A (n.1800+10C>A)
c.778-442C>A (n.778-442C>A)
c.1605+10C>A (n.1605+10C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44255664T>GCA626223766SLC4A1c.1800+9A>C (n.1800+9A>C)
c.778-443A>C (n.778-443A>C)
c.1605+9A>C (n.1605+9A>C)
 dbSNP gnomAD v2
17g.44255664T=CA2261308771SLC4A1c.1800+9A= (n.1800+9A=)
c.778-443A= (n.778-443A=)
c.1605+9A= (n.1605+9A=)
17g.44255665A=CA2261308772SLC4A1c.1800+8T= (n.1800+8T=)
c.778-444T= (n.778-444T=)
c.1605+8T= (n.1605+8T=)
17g.44255665A>GCA290929367SLC4A1c.1800+8T>C (n.1800+8T>C)
c.778-444T>C (n.778-444T>C)
c.1605+8T>C (n.1605+8T>C)
 dbSNP
17g.44255666T>CCA2638191827SLC4A1c.1800+7A>G (n.1800+7A>G)
c.778-445A>G (n.778-445A>G)
c.1605+7A>G (n.1605+7A>G)
 gnomAD v4
17g.44255668C>TCA2638191828SLC4A1c.1800+5G>A (n.1800+5G>A)
c.778-447G>A (n.778-447G>A)
c.1605+5G>A (n.1605+5G>A)
 gnomAD v4
17g.44255670G>CCA626223767SLC4A1c.1800+3C>G (n.1800+3C>G)
c.778-449C>G (n.778-449C>G)
c.1605+3C>G (n.1605+3C>G)
 dbSNP gnomAD v2 gnomAD v4
17g.44255670G=CA2261308773SLC4A1c.1800+3C= (n.1800+3C=)
c.778-449C= (n.778-449C=)
c.1605+3C= (n.1605+3C=)
17g.44255671A>CCA399784006SLC4A1c.1800+2T>G (n.1800+2T>G)
c.778-450T>G (n.778-450T>G)
c.1605+2T>G (n.1605+2T>G)
17g.44255671A>GCA399784004SLC4A1c.1800+2T>C (n.1800+2T>C)
c.778-450T>C (n.778-450T>C)
c.1605+2T>C (n.1605+2T>C)
17g.44255671A>TCA399784005SLC4A1c.1800+2T>A (n.1800+2T>A)
c.778-450T>A (n.778-450T>A)
c.1605+2T>A (n.1605+2T>A)
17g.44255672C>ACA399784007SLC4A1c.1800+1G>T (n.1800+1G>T)
c.778-451G>T (n.778-451G>T)
c.1605+1G>T (n.1605+1G>T)
17g.44255672C>GCA399784008SLC4A1c.1800+1G>C (n.1800+1G>C)
c.778-451G>C (n.778-451G>C)
c.1605+1G>C (n.1605+1G>C)
17g.44255672C>TCA399784009SLC4A1c.1800+1G>A (n.1800+1G>A)
c.778-451G>A (n.778-451G>A)
c.1605+1G>A (n.1605+1G>A)
 ClinVar
17g.44255673C>ACA399784010SLC4A1c.1800G>T (p.Lys600Asn)
c.778-452G>T (n.778-452G>T)
c.1605G>T (p.Lys535Asn)
17g.44255673C>GCA399784011SLC4A1c.1800G>C (p.Lys600Asn)
c.778-452G>C (n.778-452G>C)
c.1605G>C (p.Lys535Asn)
17g.44255673C>TCA500286685SLC4A1c.1800G>A (p.Lys600=)
c.778-452G>A (n.778-452G>A)
c.1605G>A (p.Lys535=)
17g.44255674T>ACA399784012SLC4A1c.1799A>T (p.Lys600Met)
c.778-453A>T (n.778-453A>T)
c.1604A>T (p.Lys535Met)
17g.44255674T>CCA399784013SLC4A1c.1799A>G (p.Lys600Arg)
c.778-453A>G (n.778-453A>G)
c.1604A>G (p.Lys535Arg)
17g.44255674T>GCA399784014SLC4A1c.1799A>C (p.Lys600Thr)
c.778-453A>C (n.778-453A>C)
c.1604A>C (p.Lys535Thr)
17g.44255674_44255843delCA2695226328SLC4A1c.1630_1799del (p.Phe544AlafsTer?)
c.778-622_778-453del (n.778-622_778-453del)
c.1435_1604del (p.Phe479AlafsTer?)
c.1630_1799del (p.Phe544GlufsTer6)
17g.44255675T>ACA399784015SLC4A1c.1798A>T (p.Lys600Ter)
c.778-454A>T (n.778-454A>T)
c.1603A>T (p.Lys535Ter)
17g.44255675T>CCA399784016SLC4A1c.1798A>G (p.Lys600Glu)
c.778-454A>G (n.778-454A>G)
c.1603A>G (p.Lys535Glu)
17g.44255675T>GCA399784017SLC4A1c.1798A>C (p.Lys600Gln)
c.778-454A>C (n.778-454A>C)
c.1603A>C (p.Lys535Gln)
17g.44255676G>ACA500286686SLC4A1c.1797C>T (p.Gly599=)
c.778-455C>T (n.778-455C>T)
c.1602C>T (p.Gly534=)
17g.44255676G>CCA500286687SLC4A1c.1797C>G (p.Gly599=)
c.778-455C>G (n.778-455C>G)
c.1602C>G (p.Gly534=)
17g.44255676G>TCA500286688SLC4A1c.1797C>A (p.Gly599=)
c.778-455C>A (n.778-455C>A)
c.1602C>A (p.Gly534=)
 COSMIC
17g.44255677C>ACA399784020SLC4A1c.1796G>T (p.Gly599Val)
c.778-456G>T (n.778-456G>T)
c.1601G>T (p.Gly534Val)
17g.44255677C>GCA399784018SLC4A1c.1796G>C (p.Gly599Ala)
c.778-456G>C (n.778-456G>C)
c.1601G>C (p.Gly534Ala)
 gnomAD v4
17g.44255677C>TCA399784019SLC4A1c.1796G>A (p.Gly599Asp)
c.778-456G>A (n.778-456G>A)
c.1601G>A (p.Gly534Asp)
17g.44255678C>ACA399784021SLC4A1c.1795G>T (p.Gly599Cys)
c.778-457G>T (n.778-457G>T)
c.1600G>T (p.Gly534Cys)
17g.44255678C>GCA399784022SLC4A1c.1795G>C (p.Gly599Arg)
c.778-457G>C (n.778-457G>C)
c.1600G>C (p.Gly534Arg)
17g.44255678C>TCA399784023SLC4A1c.1795G>A (p.Gly599Ser)
c.778-457G>A (n.778-457G>A)
c.1600G>A (p.Gly534Ser)
 ClinVar
17g.44255679A>CCA500286689SLC4A1c.1794T>G (p.Pro598=)
c.778-458T>G (n.778-458T>G)
c.1599T>G (p.Pro533=)
17g.44255679A>GCA500286690SLC4A1c.1794T>C (p.Pro598=)
c.778-458T>C (n.778-458T>C)
c.1599T>C (p.Pro533=)
 gnomAD v4
17g.44255679A>TCA500286691SLC4A1c.1794T>A (p.Pro598=)
c.778-458T>A (n.778-458T>A)
c.1599T>A (p.Pro533=)
17g.44255680G>ACA399784024SLC4A1c.1793C>T (p.Pro598Leu)
c.778-459C>T (n.778-459C>T)
c.1598C>T (p.Pro533Leu)
17g.44255680G>CCA399784025SLC4A1c.1793C>G (p.Pro598Arg)
c.778-459C>G (n.778-459C>G)
c.1598C>G (p.Pro533Arg)
17g.44255680G>TCA399784026SLC4A1c.1793C>A (p.Pro598His)
c.778-459C>A (n.778-459C>A)
c.1598C>A (p.Pro533His)
17g.44255681G>ACA399784027SLC4A1c.1792C>T (p.Pro598Ser)
c.778-460C>T (n.778-460C>T)
c.1597C>T (p.Pro533Ser)
 dbSNP gnomAD v4
17g.44255681G>CCA399784028SLC4A1c.1792C>G (p.Pro598Ala)
c.778-460C>G (n.778-460C>G)
c.1597C>G (p.Pro533Ala)
17g.44255681G=CA2261308774SLC4A1c.1792C= (p.Pro598=)
c.778-460C= (n.778-460C=)
c.1597C= (p.Pro533=)
17g.44255681G>TCA399784029SLC4A1c.1792C>A (p.Pro598Thr)
c.778-460C>A (n.778-460C>A)
c.1597C>A (p.Pro533Thr)
17g.44255682G>ACA500286692SLC4A1c.1791C>T (p.Phe597=)
c.778-461C>T (n.778-461C>T)
c.1596C>T (p.Phe532=)
 dbSNP COSMIC
17g.44255682G>CCA399784030SLC4A1c.1791C>G (p.Phe597Leu)
c.778-461C>G (n.778-461C>G)
c.1596C>G (p.Phe532Leu)
17g.44255682G=CA2261308775SLC4A1c.1791C= (p.Phe597=)
c.778-461C= (n.778-461C=)
c.1596C= (p.Phe532=)
17g.44255682G>TCA399784031SLC4A1c.1791C>A (p.Phe597Leu)
c.778-461C>A (n.778-461C>A)
c.1596C>A (p.Phe532Leu)
17g.44255683A>CCA399784034SLC4A1c.1790T>G (p.Phe597Cys)
c.778-462T>G (n.778-462T>G)
c.1595T>G (p.Phe532Cys)
17g.44255683A>GCA399784033SLC4A1c.1790T>C (p.Phe597Ser)
c.778-462T>C (n.778-462T>C)
c.1595T>C (p.Phe532Ser)
17g.44255683A>TCA399784032SLC4A1c.1790T>A (p.Phe597Tyr)
c.778-462T>A (n.778-462T>A)
c.1595T>A (p.Phe532Tyr)
17g.44255685delCA2739267571SLC4A1c.1790del (p.Phe597SerfsTer19)
c.778-462del (n.778-462del)
c.1595del (p.Phe532SerfsTer19)
c.1790del (p.Phe597SerfsTer?)
 ClinVar
17g.44255684A=CA2261308776SLC4A1c.1789T= (p.Phe597=)
c.778-463T= (n.778-463T=)
c.1594T= (p.Phe532=)
17g.44255684A>CCA399784035SLC4A1c.1789T>G (p.Phe597Val)
c.778-463T>G (n.778-463T>G)
c.1594T>G (p.Phe532Val)
17g.44255684A>GCA399784036SLC4A1c.1789T>C (p.Phe597Leu)
c.778-463T>C (n.778-463T>C)
c.1594T>C (p.Phe532Leu)
17g.44255684A>TCA8600201SLC4A1c.1789T>A (p.Phe597Ile)
c.778-463T>A (n.778-463T>A)
c.1594T>A (p.Phe532Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44255685A=CA2261308777SLC4A1c.1788T= (p.Tyr596=)
c.778-464T= (n.778-464T=)
c.1593T= (p.Tyr531=)
17g.44255685A>CCA399784037SLC4A1c.1788T>G (p.Tyr596Ter)
c.778-464T>G (n.778-464T>G)
c.1593T>G (p.Tyr531Ter)
17g.44255685A>GCA290929374SLC4A1c.1788T>C (p.Tyr596=)
c.778-464T>C (n.778-464T>C)
c.1593T>C (p.Tyr531=)
 dbSNP
17g.44255685A>TCA399784038SLC4A1c.1788T>A (p.Tyr596Ter)
c.778-464T>A (n.778-464T>A)
c.1593T>A (p.Tyr531Ter)
17g.44255686T>ACA399784039SLC4A1c.1787A>T (p.Tyr596Phe)
c.778-465A>T (n.778-465A>T)
c.1592A>T (p.Tyr531Phe)
17g.44255686T>CCA399784040SLC4A1c.1787A>G (p.Tyr596Cys)
c.778-465A>G (n.778-465A>G)
c.1592A>G (p.Tyr531Cys)
17g.44255686T>GCA399784041SLC4A1c.1787A>C (p.Tyr596Ser)
c.778-465A>C (n.778-465A>C)
c.1592A>C (p.Tyr531Ser)
17g.44255687A>CCA399784042SLC4A1c.1786T>G (p.Tyr596Asp)
c.778-466T>G (n.778-466T>G)
c.1591T>G (p.Tyr531Asp)
17g.44255687A>GCA399784043SLC4A1c.1786T>C (p.Tyr596His)
c.778-466T>C (n.778-466T>C)
c.1591T>C (p.Tyr531His)
17g.44255687A>TCA399784044SLC4A1c.1786T>A (p.Tyr596Asn)
c.778-466T>A (n.778-466T>A)
c.1591T>A (p.Tyr531Asn)
17g.44255688G>ACA500286725SLC4A1c.1785C>T (p.Ser595=)
c.778-467C>T (n.778-467C>T)
c.1590C>T (p.Ser530=)
 ClinVar dbSNP gnomAD v4
17g.44255688G>CCA500286727SLC4A1c.1785C>G (p.Ser595=)
c.778-467C>G (n.778-467C>G)
c.1590C>G (p.Ser530=)
17g.44255688G=CA2261308778SLC4A1c.1785C= (p.Ser595=)
c.778-467C= (n.778-467C=)
c.1590C= (p.Ser530=)
17g.44255688G>TCA500286728SLC4A1c.1785C>A (p.Ser595=)
c.778-467C>A (n.778-467C>A)
c.1590C>A (p.Ser530=)
17g.44255689G>ACA399784045SLC4A1c.1784C>T (p.Ser595Phe)
c.778-468C>T (n.778-468C>T)
c.1589C>T (p.Ser530Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44255689G>CCA399784046SLC4A1c.1784C>G (p.Ser595Cys)
c.778-468C>G (n.778-468C>G)
c.1589C>G (p.Ser530Cys)
 dbSNP
17g.44255689G=CA2261308779SLC4A1c.1784C= (p.Ser595=)
c.778-468C= (n.778-468C=)
c.1589C= (p.Ser530=)
17g.44255689G>TCA399784047SLC4A1c.1784C>A (p.Ser595Tyr)
c.778-468C>A (n.778-468C>A)
c.1589C>A (p.Ser530Tyr)
17g.44255690A>CCA399784050SLC4A1c.1783T>G (p.Ser595Ala)
c.778-469T>G (n.778-469T>G)
c.1588T>G (p.Ser530Ala)
17g.44255690A>GCA399784048SLC4A1c.1783T>C (p.Ser595Pro)
c.778-469T>C (n.778-469T>C)
c.1588T>C (p.Ser530Pro)
17g.44255690A>TCA399784049SLC4A1c.1783T>A (p.Ser595Thr)
c.778-469T>A (n.778-469T>A)
c.1588T>A (p.Ser530Thr)
17g.44255691G>ACA500286741SLC4A1c.1782C>T (p.Ser594=)
c.778-470C>T (n.778-470C>T)
c.1587C>T (p.Ser529=)
17g.44255691G>CCA8600202SLC4A1c.1782C>G (p.Ser594Arg)
c.778-470C>G (n.778-470C>G)
c.1587C>G (p.Ser529Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255691G=CA2261308780SLC4A1c.1782C= (p.Ser594=)
c.778-470C= (n.778-470C=)
c.1587C= (p.Ser529=)
17g.44255691G>TCA399784051SLC4A1c.1782C>A (p.Ser594Arg)
c.778-470C>A (n.778-470C>A)
c.1587C>A (p.Ser529Arg)
 COSMIC
17g.44255692C>ACA399784052SLC4A1c.1781G>T (p.Ser594Ile)
c.778-471G>T (n.778-471G>T)
c.1586G>T (p.Ser529Ile)
 gnomAD v4
17g.44255692C=CA2261308781SLC4A1c.1781G= (p.Ser594=)
c.778-471G= (n.778-471G=)
c.1586G= (p.Ser529=)
17g.44255692C>GCA399784053SLC4A1c.1781G>C (p.Ser594Thr)
c.778-471G>C (n.778-471G>C)
c.1586G>C (p.Ser529Thr)
 gnomAD v4
17g.44255692C>TCA8600203SLC4A1c.1781G>A (p.Ser594Asn)
c.778-471G>A (n.778-471G>A)
c.1586G>A (p.Ser529Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255693T>ACA399784054SLC4A1c.1780A>T (p.Ser594Cys)
c.778-472A>T (n.778-472A>T)
c.1585A>T (p.Ser529Cys)
 dbSNP
17g.44255693T>CCA399784055SLC4A1c.1780A>G (p.Ser594Gly)
c.778-472A>G (n.778-472A>G)
c.1585A>G (p.Ser529Gly)
17g.44255693T>GCA399784056SLC4A1c.1780A>C (p.Ser594Arg)
c.778-472A>C (n.778-472A>C)
c.1585A>C (p.Ser529Arg)
17g.44255693T=CA2261308782SLC4A1c.1780A= (p.Ser594=)
c.778-472A= (n.778-472A=)
c.1585A= (p.Ser529=)
17g.44255694G>ACA500286761SLC4A1c.1779C>T (p.Asn593=)
c.778-473C>T (n.778-473C>T)
c.1584C>T (p.Asn528=)
 gnomAD v4
17g.44255694G>CCA399784057SLC4A1c.1779C>G (p.Asn593Lys)
c.778-473C>G (n.778-473C>G)
c.1584C>G (p.Asn528Lys)
17g.44255694G>TCA399784058SLC4A1c.1779C>A (p.Asn593Lys)
c.778-473C>A (n.778-473C>A)
c.1584C>A (p.Asn528Lys)
17g.44255695T>ACA399784060SLC4A1c.1778A>T (p.Asn593Ile)
c.778-474A>T (n.778-474A>T)
c.1583A>T (p.Asn528Ile)
17g.44255695T>CCA399784061SLC4A1c.1778A>G (p.Asn593Ser)
c.778-474A>G (n.778-474A>G)
c.1583A>G (p.Asn528Ser)
 COSMIC
17g.44255695T>GCA399784059SLC4A1c.1778A>C (p.Asn593Thr)
c.778-474A>C (n.778-474A>C)
c.1583A>C (p.Asn528Thr)
17g.44255696T>ACA399784062SLC4A1c.1777A>T (p.Asn593Tyr)
c.778-475A>T (n.778-475A>T)
c.1582A>T (p.Asn528Tyr)
17g.44255696T>CCA399784063SLC4A1c.1777A>G (p.Asn593Asp)
c.778-475A>G (n.778-475A>G)
c.1582A>G (p.Asn528Asp)
17g.44255696T>GCA399784064SLC4A1c.1777A>C (p.Asn593His)
c.778-475A>C (n.778-475A>C)
c.1582A>C (p.Asn528His)
17g.44255697C>ACA399784065SLC4A1c.1776G>T (p.Lys592Asn)
c.778-476G>T (n.778-476G>T)
c.1581G>T (p.Lys527Asn)
17g.44255697C>GCA399784066SLC4A1c.1776G>C (p.Lys592Asn)
c.778-476G>C (n.778-476G>C)
c.1581G>C (p.Lys527Asn)
17g.44255697C>TCA500286777SLC4A1c.1776G>A (p.Lys592=)
c.778-476G>A (n.778-476G>A)
c.1581G>A (p.Lys527=)
17g.44255698T>ACA399784067SLC4A1c.1775A>T (p.Lys592Met)
c.778-477A>T (n.778-477A>T)
c.1580A>T (p.Lys527Met)
17g.44255698T>CCA399784068SLC4A1c.1775A>G (p.Lys592Arg)
c.778-477A>G (n.778-477A>G)
c.1580A>G (p.Lys527Arg)
17g.44255698T>GCA399784069SLC4A1c.1775A>C (p.Lys592Thr)
c.778-477A>C (n.778-477A>C)
c.1580A>C (p.Lys527Thr)
17g.44255699T>ACA399784070SLC4A1c.1774A>T (p.Lys592Ter)
c.778-478A>T (n.778-478A>T)
c.1579A>T (p.Lys527Ter)
17g.44255699T>CCA399784071SLC4A1c.1774A>G (p.Lys592Glu)
c.778-478A>G (n.778-478A>G)
c.1579A>G (p.Lys527Glu)
17g.44255699T>GCA399784072SLC4A1c.1774A>C (p.Lys592Gln)
c.778-478A>C (n.778-478A>C)
c.1579A>C (p.Lys527Gln)
17g.44255700G>ACA500286795SLC4A1c.1773C>T (p.Phe591=)
c.778-479C>T (n.778-479C>T)
c.1578C>T (p.Phe526=)
17g.44255700G>CCA399784073SLC4A1c.1773C>G (p.Phe591Leu)
c.778-479C>G (n.778-479C>G)
c.1578C>G (p.Phe526Leu)
17g.44255700G>TCA399784074SLC4A1c.1773C>A (p.Phe591Leu)
c.778-479C>A (n.778-479C>A)
c.1578C>A (p.Phe526Leu)
17g.44255701A>CCA399784077SLC4A1c.1772T>G (p.Phe591Cys)
c.778-480T>G (n.778-480T>G)
c.1577T>G (p.Phe526Cys)
17g.44255701A>GCA399784076SLC4A1c.1772T>C (p.Phe591Ser)
c.778-480T>C (n.778-480T>C)
c.1577T>C (p.Phe526Ser)
17g.44255701A>TCA399784075SLC4A1c.1772T>A (p.Phe591Tyr)
c.778-480T>A (n.778-480T>A)
c.1577T>A (p.Phe526Tyr)
17g.44255702A>CCA399784078SLC4A1c.1771T>G (p.Phe591Val)
c.778-481T>G (n.778-481T>G)
c.1576T>G (p.Phe526Val)
17g.44255702A>GCA399784079SLC4A1c.1771T>C (p.Phe591Leu)
c.778-481T>C (n.778-481T>C)
c.1576T>C (p.Phe526Leu)
17g.44255702A>TCA399784080SLC4A1c.1771T>A (p.Phe591Ile)
c.778-481T>A (n.778-481T>A)
c.1576T>A (p.Phe526Ile)
17g.44255703C>ACA399784081SLC4A1c.1770G>T (p.Lys590Asn)
c.778-482G>T (n.778-482G>T)
c.1575G>T (p.Lys525Asn)
17g.44255703C=CA2261308783SLC4A1c.1770G= (p.Lys590=)
c.778-482G= (n.778-482G=)
c.1575G= (p.Lys525=)
17g.44255703C>GCA399784082SLC4A1c.1770G>C (p.Lys590Asn)
c.778-482G>C (n.778-482G>C)
c.1575G>C (p.Lys525Asn)
17g.44255703C>TCA8600204SLC4A1c.1770G>A (p.Lys590=)
c.778-482G>A (n.778-482G>A)
c.1575G>A (p.Lys525=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255704T>ACA399784083SLC4A1c.1769A>T (p.Lys590Met)
c.778-483A>T (n.778-483A>T)
c.1574A>T (p.Lys525Met)
17g.44255704T>CCA399784084SLC4A1c.1769A>G (p.Lys590Arg)
c.778-483A>G (n.778-483A>G)
c.1574A>G (p.Lys525Arg)
17g.44255704T>GCA399784085SLC4A1c.1769A>C (p.Lys590Thr)
c.778-483A>C (n.778-483A>C)
c.1574A>C (p.Lys525Thr)
17g.44255705T>ACA399784086SLC4A1c.1768A>T (p.Lys590Ter)
c.778-484A>T (n.778-484A>T)
c.1573A>T (p.Lys525Ter)
17g.44255705T>CCA399784087SLC4A1c.1768A>G (p.Lys590Glu)
c.778-484A>G (n.778-484A>G)
c.1573A>G (p.Lys525Glu)
17g.44255705T>GCA399784088SLC4A1c.1768A>C (p.Lys590Gln)
c.778-484A>C (n.778-484A>C)
c.1573A>C (p.Lys525Gln)
17g.44255706G>ACA500286822SLC4A1c.1767C>T (p.Arg589=)
c.778-485C>T (n.778-485C>T)
c.1572C>T (p.Arg524=)
17g.44255706G>CCA500286824SLC4A1c.1767C>G (p.Arg589=)
c.778-485C>G (n.778-485C>G)
c.1572C>G (p.Arg524=)
17g.44255706G>TCA500286826SLC4A1c.1767C>A (p.Arg589=)
c.778-485C>A (n.778-485C>A)
c.1572C>A (p.Arg524=)
17g.44255707C>ACA399784090SLC4A1c.1766G>T (p.Arg589Leu)
c.778-486G>T (n.778-486G>T)
c.1571G>T (p.Arg524Leu)
17g.44255707C=CA2261308784SLC4A1c.1766G= (p.Arg589=)
c.778-486G= (n.778-486G=)
c.1571G= (p.Arg524=)
17g.44255707C>GCA399784089SLC4A1c.1766G>C (p.Arg589Pro)
c.778-486G>C (n.778-486G>C)
c.1571G>C (p.Arg524Pro)
17g.44255707C>TCA127387SLC4A1c.1766G>A (p.Arg589His)
c.778-486G>A (n.778-486G>A)
c.1571G>A (p.Arg524His)
 ClinVar dbSNP
17g.44255708G>ACA127388SLC4A1c.1765C>T (p.Arg589Cys)
c.778-487C>T (n.778-487C>T)
c.1570C>T (p.Arg524Cys)
 ClinVar dbSNP
17g.44255708G>CCA399784091SLC4A1c.1765C>G (p.Arg589Gly)
c.778-487C>G (n.778-487C>G)
c.1570C>G (p.Arg524Gly)
 ClinVar
17g.44255708G=CA2261308785SLC4A1c.1765C= (p.Arg589=)
c.778-487C= (n.778-487C=)
c.1570C= (p.Arg524=)
17g.44255708G>TCA127390SLC4A1c.1765C>A (p.Arg589Ser)
c.778-487C>A (n.778-487C>A)
c.1570C>A (p.Arg524Ser)
 ClinVar dbSNP
17g.44255709C>ACA500286840SLC4A1c.1764G>T (p.Leu588=)
c.778-488G>T (n.778-488G>T)
c.1569G>T (p.Leu523=)
17g.44255709C=CA2261308786SLC4A1c.1764G= (p.Leu588=)
c.778-488G= (n.778-488G=)
c.1569G= (p.Leu523=)
17g.44255709C>GCA500286842SLC4A1c.1764G>C (p.Leu588=)
c.778-488G>C (n.778-488G>C)
c.1569G>C (p.Leu523=)
 dbSNP gnomAD v2
17g.44255709C>TCA500286844SLC4A1c.1764G>A (p.Leu588=)
c.778-488G>A (n.778-488G>A)
c.1569G>A (p.Leu523=)
 gnomAD v4
17g.44255710A>CCA399784092SLC4A1c.1763T>G (p.Leu588Arg)
c.778-489T>G (n.778-489T>G)
c.1568T>G (p.Leu523Arg)
17g.44255710A>GCA399784093SLC4A1c.1763T>C (p.Leu588Pro)
c.778-489T>C (n.778-489T>C)
c.1568T>C (p.Leu523Pro)
17g.44255710A>TCA399784094SLC4A1c.1763T>A (p.Leu588Gln)
c.778-489T>A (n.778-489T>A)
c.1568T>A (p.Leu523Gln)
17g.44255711G>ACA500286853SLC4A1c.1762C>T (p.Leu588=)
c.778-490C>T (n.778-490C>T)
c.1567C>T (p.Leu523=)
17g.44255711G>CCA399784095SLC4A1c.1762C>G (p.Leu588Val)
c.778-490C>G (n.778-490C>G)
c.1567C>G (p.Leu523Val)
17g.44255711G>TCA399784096SLC4A1c.1762C>A (p.Leu588Met)
c.778-490C>A (n.778-490C>A)
c.1567C>A (p.Leu523Met)
17g.44255712C>ACA399784097SLC4A1c.1761G>T (p.Met587Ile)
c.778-491G>T (n.778-491G>T)
c.1566G>T (p.Met522Ile)
17g.44255712C>GCA399784098SLC4A1c.1761G>C (p.Met587Ile)
c.778-491G>C (n.778-491G>C)
c.1566G>C (p.Met522Ile)
17g.44255712C>TCA399784099SLC4A1c.1761G>A (p.Met587Ile)
c.778-491G>A (n.778-491G>A)
c.1566G>A (p.Met522Ile)
 COSMIC
17g.44255713A=CA2261308787SLC4A1c.1760T= (p.Met587=)
c.778-492T= (n.778-492T=)
c.1565T= (p.Met522=)
17g.44255713A>CCA399784100SLC4A1c.1760T>G (p.Met587Arg)
c.778-492T>G (n.778-492T>G)
c.1565T>G (p.Met522Arg)
 gnomAD v4
17g.44255713A>GCA290929410SLC4A1c.1760T>C (p.Met587Thr)
c.778-492T>C (n.778-492T>C)
c.1565T>C (p.Met522Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.44255713A>TCA399784101SLC4A1c.1760T>A (p.Met587Lys)
c.778-492T>A (n.778-492T>A)
c.1565T>A (p.Met522Lys)
 dbSNP gnomAD v3 gnomAD v4
17g.44255714T>ACA8600205SLC4A1c.1759A>T (p.Met587Leu)
c.778-493A>T (n.778-493A>T)
c.1564A>T (p.Met522Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255714T>CCA399784103SLC4A1c.1759A>G (p.Met587Val)
c.778-493A>G (n.778-493A>G)
c.1564A>G (p.Met522Val)
 dbSNP gnomAD v2 gnomAD v4
17g.44255714T>GCA399784102SLC4A1c.1759A>C (p.Met587Leu)
c.778-493A>C (n.778-493A>C)
c.1564A>C (p.Met522Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.44255714T=CA2261308788SLC4A1c.1759A= (p.Met587=)
c.778-493A= (n.778-493A=)
c.1564A= (p.Met522=)
17g.44255715C>ACA399784104SLC4A1c.1758G>T (p.Met586Ile)
c.778-494G>T (n.778-494G>T)
c.1563G>T (p.Met521Ile)
17g.44255715C>GCA399784105SLC4A1c.1758G>C (p.Met586Ile)
c.778-494G>C (n.778-494G>C)
c.1563G>C (p.Met521Ile)
17g.44255715C>TCA399784106SLC4A1c.1758G>A (p.Met586Ile)
c.778-494G>A (n.778-494G>A)
c.1563G>A (p.Met521Ile)
 COSMIC
17g.44255716A=CA2261308789SLC4A1c.1757T= (p.Met586=)
c.778-495T= (n.778-495T=)
c.1562T= (p.Met521=)
17g.44255716A>CCA399784107SLC4A1c.1757T>G (p.Met586Arg)
c.778-495T>G (n.778-495T>G)
c.1562T>G (p.Met521Arg)
17g.44255716A>GCA399784108SLC4A1c.1757T>C (p.Met586Thr)
c.778-495T>C (n.778-495T>C)
c.1562T>C (p.Met521Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44255716A>TCA399784109SLC4A1c.1757T>A (p.Met586Lys)
c.778-495T>A (n.778-495T>A)
c.1562T>A (p.Met521Lys)
17g.44255717T>ACA290929412SLC4A1c.1756A>T (p.Met586Leu)
c.778-496A>T (n.778-496A>T)
c.1561A>T (p.Met521Leu)
 dbSNP
17g.44255717T>CCA399784110SLC4A1c.1756A>G (p.Met586Val)
c.778-496A>G (n.778-496A>G)
c.1561A>G (p.Met521Val)
17g.44255717T>GCA399784111SLC4A1c.1756A>C (p.Met586Leu)
c.778-496A>C (n.778-496A>C)
c.1561A>C (p.Met521Leu)
17g.44255717T=CA2261308790SLC4A1c.1756A= (p.Met586=)
c.778-496A= (n.778-496A=)
c.1561A= (p.Met521=)
17g.44255718G>ACA500286902SLC4A1c.1755C>T (p.Ala585=)
c.778-497C>T (n.778-497C>T)
c.1560C>T (p.Ala520=)
 gnomAD v4
17g.44255718G>CCA500286904SLC4A1c.1755C>G (p.Ala585=)
c.778-497C>G (n.778-497C>G)
c.1560C>G (p.Ala520=)
17g.44255718G>TCA500286907SLC4A1c.1755C>A (p.Ala585=)
c.778-497C>A (n.778-497C>A)
c.1560C>A (p.Ala520=)
17g.44255719G>ACA399784112SLC4A1c.1754C>T (p.Ala585Val)
c.778-498C>T (n.778-498C>T)
c.1559C>T (p.Ala520Val)
17g.44255719G>CCA399784113SLC4A1c.1754C>G (p.Ala585Gly)
c.778-498C>G (n.778-498C>G)
c.1559C>G (p.Ala520Gly)
17g.44255719G>TCA399784114SLC4A1c.1754C>A (p.Ala585Asp)
c.778-498C>A (n.778-498C>A)
c.1559C>A (p.Ala520Asp)
17g.44255720C>ACA399784117SLC4A1c.1753G>T (p.Ala585Ser)
c.778-499G>T (n.778-499G>T)
c.1558G>T (p.Ala520Ser)
17g.44255720C>GCA399784116SLC4A1c.1753G>C (p.Ala585Pro)
c.778-499G>C (n.778-499G>C)
c.1558G>C (p.Ala520Pro)
17g.44255720C>TCA399784115SLC4A1c.1753G>A (p.Ala585Thr)
c.778-499G>A (n.778-499G>A)
c.1558G>A (p.Ala520Thr)
17g.44255721A>CCA399784119SLC4A1c.1752T>G (p.Phe584Leu)
c.778-500T>G (n.778-500T>G)
c.1557T>G (p.Phe519Leu)
17g.44255721A>GCA500286921SLC4A1c.1752T>C (p.Phe584=)
c.778-500T>C (n.778-500T>C)
c.1557T>C (p.Phe519=)
17g.44255721A>TCA399784118SLC4A1c.1752T>A (p.Phe584Leu)
c.778-500T>A (n.778-500T>A)
c.1557T>A (p.Phe519Leu)
17g.44255722A>CCA399784120SLC4A1c.1751T>G (p.Phe584Cys)
c.778-501T>G (n.778-501T>G)
c.1556T>G (p.Phe519Cys)
17g.44255722A>GCA399784121SLC4A1c.1751T>C (p.Phe584Ser)
c.778-501T>C (n.778-501T>C)
c.1556T>C (p.Phe519Ser)
17g.44255722A>TCA399784122SLC4A1c.1751T>A (p.Phe584Tyr)
c.778-501T>A (n.778-501T>A)
c.1556T>A (p.Phe519Tyr)
17g.44255728_44255730delCA645593069SLC4A1c.1749_1751del (p.Phe584del)
c.778-503_778-501del (n.778-503_778-501del)
c.1554_1556del (p.Phe519del)
 gnomAD v4 COSMIC
17g.44255723A>CCA399784123SLC4A1c.1750T>G (p.Phe584Val)
c.778-502T>G (n.778-502T>G)
c.1555T>G (p.Phe519Val)
17g.44255723A>GCA399784124SLC4A1c.1750T>C (p.Phe584Leu)
c.778-502T>C (n.778-502T>C)
c.1555T>C (p.Phe519Leu)
17g.44255723A>TCA399784125SLC4A1c.1750T>A (p.Phe584Ile)
c.778-502T>A (n.778-502T>A)
c.1555T>A (p.Phe519Ile)
17g.44255724G>ACA500286939SLC4A1c.1749C>T (p.Phe583=)
c.778-503C>T (n.778-503C>T)
c.1554C>T (p.Phe518=)
17g.44255724G>CCA399784126SLC4A1c.1749C>G (p.Phe583Leu)
c.778-503C>G (n.778-503C>G)
c.1554C>G (p.Phe518Leu)
 gnomAD v4
17g.44255724G>TCA399784127SLC4A1c.1749C>A (p.Phe583Leu)
c.778-503C>A (n.778-503C>A)
c.1554C>A (p.Phe518Leu)
 gnomAD v4
17g.44255725A>CCA399784128SLC4A1c.1748T>G (p.Phe583Cys)
c.778-504T>G (n.778-504T>G)
c.1553T>G (p.Phe518Cys)
17g.44255725A>GCA399784129SLC4A1c.1748T>C (p.Phe583Ser)
c.778-504T>C (n.778-504T>C)
c.1553T>C (p.Phe518Ser)
17g.44255725A>TCA399784130SLC4A1c.1748T>A (p.Phe583Tyr)
c.778-504T>A (n.778-504T>A)
c.1553T>A (p.Phe518Tyr)
17g.44255726A>CCA399784132SLC4A1c.1747T>G (p.Phe583Val)
c.778-505T>G (n.778-505T>G)
c.1552T>G (p.Phe518Val)
17g.44255726A>GCA399784133SLC4A1c.1747T>C (p.Phe583Leu)
c.778-505T>C (n.778-505T>C)
c.1552T>C (p.Phe518Leu)
17g.44255726A>TCA399784131SLC4A1c.1747T>A (p.Phe583Ile)
c.778-505T>A (n.778-505T>A)
c.1552T>A (p.Phe518Ile)
17g.44255727G>ACA500286956SLC4A1c.1746C>T (p.Phe582=)
c.778-506C>T (n.778-506C>T)
c.1551C>T (p.Phe517=)
17g.44255727G>CCA399784134SLC4A1c.1746C>G (p.Phe582Leu)
c.778-506C>G (n.778-506C>G)
c.1551C>G (p.Phe517Leu)
17g.44255727G>TCA399784135SLC4A1c.1746C>A (p.Phe582Leu)
c.778-506C>A (n.778-506C>A)
c.1551C>A (p.Phe517Leu)
17g.44255728A>CCA399784136SLC4A1c.1745T>G (p.Phe582Cys)
c.778-507T>G (n.778-507T>G)
c.1550T>G (p.Phe517Cys)
17g.44255728A>GCA399784137SLC4A1c.1745T>C (p.Phe582Ser)
c.778-507T>C (n.778-507T>C)
c.1550T>C (p.Phe517Ser)
17g.44255728A>TCA399784138SLC4A1c.1745T>A (p.Phe582Tyr)
c.778-507T>A (n.778-507T>A)
c.1550T>A (p.Phe517Tyr)
17g.44255729A>CCA399784141SLC4A1c.1744T>G (p.Phe582Val)
c.778-508T>G (n.778-508T>G)
c.1549T>G (p.Phe517Val)
17g.44255729A>GCA399784139SLC4A1c.1744T>C (p.Phe582Leu)
c.778-508T>C (n.778-508T>C)
c.1549T>C (p.Phe517Leu)
17g.44255729A>TCA399784140SLC4A1c.1744T>A (p.Phe582Ile)
c.778-508T>A (n.778-508T>A)
c.1549T>A (p.Phe517Ile)
17g.44255730G>ACA500286971SLC4A1c.1743C>T (p.Thr581=)
c.778-509C>T (n.778-509C>T)
c.1548C>T (p.Thr516=)
17g.44255730G>CCA500286973SLC4A1c.1743C>G (p.Thr581=)
c.778-509C>G (n.778-509C>G)
c.1548C>G (p.Thr516=)
17g.44255730G>TCA500286975SLC4A1c.1743C>A (p.Thr581=)
c.778-509C>A (n.778-509C>A)
c.1548C>A (p.Thr516=)
17g.44255731G>ACA399784142SLC4A1c.1742C>T (p.Thr581Ile)
c.778-510C>T (n.778-510C>T)
c.1547C>T (p.Thr516Ile)
17g.44255731G>CCA399784143SLC4A1c.1742C>G (p.Thr581Ser)
c.778-510C>G (n.778-510C>G)
c.1547C>G (p.Thr516Ser)
17g.44255731G=CA2261308791SLC4A1c.1742C= (p.Thr581=)
c.778-510C= (n.778-510C=)
c.1547C= (p.Thr516=)
17g.44255731G>TCA8600206SLC4A1c.1742C>A (p.Thr581Asn)
c.778-510C>A (n.778-510C>A)
c.1547C>A (p.Thr516Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255732T>ACA399784144SLC4A1c.1741A>T (p.Thr581Ser)
c.778-511A>T (n.778-511A>T)
c.1546A>T (p.Thr516Ser)
17g.44255732T>CCA399784145SLC4A1c.1741A>G (p.Thr581Ala)
c.778-511A>G (n.778-511A>G)
c.1546A>G (p.Thr516Ala)
17g.44255732T>GCA399784146SLC4A1c.1741A>C (p.Thr581Pro)
c.778-511A>C (n.778-511A>C)
c.1546A>C (p.Thr516Pro)
17g.44255733A>CCA500286992SLC4A1c.1740T>G (p.Gly580=)
c.778-512T>G (n.778-512T>G)
c.1545T>G (p.Gly515=)
17g.44255733A>GCA500286993SLC4A1c.1740T>C (p.Gly580=)
c.778-512T>C (n.778-512T>C)
c.1545T>C (p.Gly515=)
 gnomAD v4
17g.44255733A>TCA500286996SLC4A1c.1740T>A (p.Gly580=)
c.778-512T>A (n.778-512T>A)
c.1545T>A (p.Gly515=)
 gnomAD v4
17g.44255734C>ACA8600207SLC4A1c.1739G>T (p.Gly580Val)
c.778-513G>T (n.778-513G>T)
c.1544G>T (p.Gly515Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44255734C=CA2261308792SLC4A1c.1739G= (p.Gly580=)
c.778-513G= (n.778-513G=)
c.1544G= (p.Gly515=)
17g.44255734C>GCA399784151SLC4A1c.1739G>C (p.Gly580Ala)
c.778-513G>C (n.778-513G>C)
c.1544G>C (p.Gly515Ala)
17g.44255734C>TCA399784149SLC4A1c.1739G>A (p.Gly580Asp)
c.778-513G>A (n.778-513G>A)
c.1544G>A (p.Gly515Asp)
17g.44255736_44255739dupCA2695226329SLC4A1c.1736_1739dup (p.Thr581ArgfsTer?)
c.778-516_778-513dup (n.778-516_778-513dup)
c.1541_1544dup (p.Thr516ArgfsTer?)
c.1736_1739dup (p.Thr581ArgfsTer27)
17g.44255735C>ACA290929427SLC4A1c.1738G>T (p.Gly580Cys)
c.778-514G>T (n.778-514G>T)
c.1543G>T (p.Gly515Cys)
 dbSNP
17g.44255735C=CA2261308793SLC4A1c.1738G= (p.Gly580=)
c.778-514G= (n.778-514G=)
c.1543G= (p.Gly515=)
17g.44255735C>GCA399784161SLC4A1c.1738G>C (p.Gly580Arg)
c.778-514G>C (n.778-514G>C)
c.1543G>C (p.Gly515Arg)
17g.44255735C>TCA8600208SLC4A1c.1738G>A (p.Gly580Ser)
c.778-514G>A (n.778-514G>A)
c.1543G>A (p.Gly515Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255736G>ACA8600209SLC4A1c.1737C>T (p.Ala579=)
c.778-515C>T (n.778-515C>T)
c.1542C>T (p.Ala514=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.44255736G>CCA290929437SLC4A1c.1737C>G (p.Ala579=)
c.778-515C>G (n.778-515C>G)
c.1542C>G (p.Ala514=)
 dbSNP gnomAD v2 gnomAD v4
17g.44255736G=CA2261308794SLC4A1c.1737C= (p.Ala579=)
c.778-515C= (n.778-515C=)
c.1542C= (p.Ala514=)
17g.44255736G>TCA290929436SLC4A1c.1737C>A (p.Ala579=)
c.778-515C>A (n.778-515C>A)
c.1542C>A (p.Ala514=)
 dbSNP gnomAD v4
17g.44255737G>ACA290929441SLC4A1c.1736C>T (p.Ala579Val)
c.778-516C>T (n.778-516C>T)
c.1541C>T (p.Ala514Val)
 dbSNP gnomAD v2 gnomAD v4
17g.44255737G>CCA399784171SLC4A1c.1736C>G (p.Ala579Gly)
c.778-516C>G (n.778-516C>G)
c.1541C>G (p.Ala514Gly)
 gnomAD v4
17g.44255737G=CA2261308795SLC4A1c.1736C= (p.Ala579=)
c.778-516C= (n.778-516C=)
c.1541C= (p.Ala514=)
17g.44255737G>TCA399784174SLC4A1c.1736C>A (p.Ala579Asp)
c.778-516C>A (n.778-516C>A)
c.1541C>A (p.Ala514Asp)
17g.44255738C>ACA399784177SLC4A1c.1735G>T (p.Ala579Ser)
c.778-517G>T (n.778-517G>T)
c.1540G>T (p.Ala514Ser)
17g.44255738C=CA2261308796SLC4A1c.1735G= (p.Ala579=)
c.778-517G= (n.778-517G=)
c.1540G= (p.Ala514=)
17g.44255738C>GCA399784180SLC4A1c.1735G>C (p.Ala579Pro)
c.778-517G>C (n.778-517G>C)
c.1540G>C (p.Ala514Pro)
17g.44255738C>TCA399784184SLC4A1c.1735G>A (p.Ala579Thr)
c.778-517G>A (n.778-517G>A)
c.1540G>A (p.Ala514Thr)
 dbSNP gnomAD v4 COSMIC
17g.44255739C>ACA399784187SLC4A1c.1734G>T (p.Met578Ile)
c.778-518G>T (n.778-518G>T)
c.1539G>T (p.Met513Ile)
17g.44255739C>GCA399784203SLC4A1c.1734G>C (p.Met578Ile)
c.778-518G>C (n.778-518G>C)
c.1539G>C (p.Met513Ile)
17g.44255739C>TCA399784205SLC4A1c.1734G>A (p.Met578Ile)
c.778-518G>A (n.778-518G>A)
c.1539G>A (p.Met513Ile)
17g.44255740A=CA2261308797SLC4A1c.1733T= (p.Met578=)
c.778-519T= (n.778-519T=)
c.1538T= (p.Met513=)
17g.44255740A>CCA399784217SLC4A1c.1733T>G (p.Met578Arg)
c.778-519T>G (n.778-519T>G)
c.1538T>G (p.Met513Arg)
17g.44255740A>GCA8600210SLC4A1c.1733T>C (p.Met578Thr)
c.778-519T>C (n.778-519T>C)
c.1538T>C (p.Met513Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.44255740A>TCA399784208SLC4A1c.1733T>A (p.Met578Lys)
c.778-519T>A (n.778-519T>A)
c.1538T>A (p.Met513Lys)
17g.44255741T>ACA399784220SLC4A1c.1732A>T (p.Met578Leu)
c.778-520A>T (n.778-520A>T)
c.1537A>T (p.Met513Leu)
17g.44255741T>CCA399784222SLC4A1c.1732A>G (p.Met578Val)
c.778-520A>G (n.778-520A>G)
c.1537A>G (p.Met513Val)
17g.44255741T>GCA399784226SLC4A1c.1732A>C (p.Met578Leu)
c.778-520A>C (n.778-520A>C)
c.1537A>C (p.Met513Leu)
17g.44255742G>ACA500287024SLC4A1c.1731C>T (p.Leu577=)
c.778-521C>T (n.778-521C>T)
c.1536C>T (p.Leu512=)
 dbSNP gnomAD v2 gnomAD v4
17g.44255742G>CCA500287025SLC4A1c.1731C>G (p.Leu577=)
c.778-521C>G (n.778-521C>G)
c.1536C>G (p.Leu512=)
17g.44255742G=CA2261308798SLC4A1c.1731C= (p.Leu577=)
c.778-521C= (n.778-521C=)
c.1536C= (p.Leu512=)
17g.44255742G>TCA290929452SLC4A1c.1731C>A (p.Leu577=)
c.778-521C>A (n.778-521C>A)
c.1536C>A (p.Leu512=)
 dbSNP gnomAD v4
17g.44255743A>CCA399784231SLC4A1c.1730T>G (p.Leu577Arg)
c.778-522T>G (n.778-522T>G)
c.1535T>G (p.Leu512Arg)
17g.44255743A>GCA399784232SLC4A1c.1730T>C (p.Leu577Pro)
c.778-522T>C (n.778-522T>C)
c.1535T>C (p.Leu512Pro)
17g.44255743A>TCA399784233SLC4A1c.1730T>A (p.Leu577His)
c.778-522T>A (n.778-522T>A)
c.1535T>A (p.Leu512His)
17g.44255744G>ACA399784234SLC4A1c.1729C>T (p.Leu577Phe)
c.778-523C>T (n.778-523C>T)
c.1534C>T (p.Leu512Phe)
17g.44255744G>CCA399784238SLC4A1c.1729C>G (p.Leu577Val)
c.778-523C>G (n.778-523C>G)
c.1534C>G (p.Leu512Val)
17g.44255744G>TCA399784244SLC4A1c.1729C>A (p.Leu577Ile)
c.778-523C>A (n.778-523C>A)
c.1534C>A (p.Leu512Ile)
17g.44255745C>ACA500287028SLC4A1c.1728G>T (p.Val576=)
c.778-524G>T (n.778-524G>T)
c.1533G>T (p.Val511=)
17g.44255745C=CA2261308799SLC4A1c.1728G= (p.Val576=)
c.778-524G= (n.778-524G=)
c.1533G= (p.Val511=)
17g.44255745C>GCA500287027SLC4A1c.1728G>C (p.Val576=)
c.778-524G>C (n.778-524G>C)
c.1533G>C (p.Val511=)
17g.44255745C>TCA8600211SLC4A1c.1728G>A (p.Val576=)
c.778-524G>A (n.778-524G>A)
c.1533G>A (p.Val511=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44255746A=CA2261308800SLC4A1c.1727T= (p.Val576=)
c.778-525T= (n.778-525T=)
c.1532T= (p.Val511=)
17g.44255746A>CCA399784249SLC4A1c.1727T>G (p.Val576Gly)
c.778-525T>G (n.778-525T>G)
c.1532T>G (p.Val511Gly)
 gnomAD v4
17g.44255746A>GCA8600212SLC4A1c.1727T>C (p.Val576Ala)
c.778-525T>C (n.778-525T>C)
c.1532T>C (p.Val511Ala)
 dbSNP ExAC gnomAD v2
17g.44255746A>TCA399784248SLC4A1c.1727T>A (p.Val576Glu)
c.778-525T>A (n.778-525T>A)
c.1532T>A (p.Val511Glu)
17g.44255747C>ACA399784250SLC4A1c.1726G>T (p.Val576Leu)
c.778-526G>T (n.778-526G>T)
c.1531G>T (p.Val511Leu)
17g.44255747C=CA2261308801SLC4A1c.1726G= (p.Val576=)
c.778-526G= (n.778-526G=)
c.1531G= (p.Val511=)
17g.44255747C>GCA399784253SLC4A1c.1726G>C (p.Val576Leu)
c.778-526G>C (n.778-526G>C)
c.1531G>C (p.Val511Leu)
17g.44255747C>TCA399784259SLC4A1c.1726G>A (p.Val576Met)
c.778-526G>A (n.778-526G>A)
c.1531G>A (p.Val511Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44255748A=CA2261308802SLC4A1c.1725T= (p.Leu575=)
c.778-527T= (n.778-527T=)
c.1530T= (p.Leu510=)
17g.44255748A>CCA500287029SLC4A1c.1725T>G (p.Leu575=)
c.778-527T>G (n.778-527T>G)
c.1530T>G (p.Leu510=)
17g.44255748A>GCA8600213SLC4A1c.1725T>C (p.Leu575=)
c.778-527T>C (n.778-527T>C)
c.1530T>C (p.Leu510=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44255748A>TCA500287030SLC4A1c.1725T>A (p.Leu575=)
c.778-527T>A (n.778-527T>A)
c.1530T>A (p.Leu510=)
17g.44255749A>CCA399784265SLC4A1c.1724T>G (p.Leu575Arg)
c.778-528T>G (n.778-528T>G)
c.1529T>G (p.Leu510Arg)
17g.44255749A>GCA399784266SLC4A1c.1724T>C (p.Leu575Pro)
c.778-528T>C (n.778-528T>C)
c.1529T>C (p.Leu510Pro)
17g.44255749A>TCA399784268SLC4A1c.1724T>A (p.Leu575His)
c.778-528T>A (n.778-528T>A)
c.1529T>A (p.Leu510His)
17g.44255750G>ACA399784273SLC4A1c.1723C>T (p.Leu575Phe)
c.778-529C>T (n.778-529C>T)
c.1528C>T (p.Leu510Phe)
 dbSNP gnomAD v4
17g.44255750G>CCA399784275SLC4A1c.1723C>G (p.Leu575Val)
c.778-529C>G (n.778-529C>G)
c.1528C>G (p.Leu510Val)
 gnomAD v4
17g.44255750G=CA2261308803SLC4A1c.1723C= (p.Leu575=)
c.778-529C= (n.778-529C=)
c.1528C= (p.Leu510=)
17g.44255750G>TCA399784277SLC4A1c.1723C>A (p.Leu575Ile)
c.778-529C>A (n.778-529C>A)
c.1528C>A (p.Leu510Ile)
17g.44255751G>ACA500287031SLC4A1c.1722C>T (p.Ser574=)
c.778-530C>T (n.778-530C>T)
c.1527C>T (p.Ser509=)
17g.44255751G>CCA500287032SLC4A1c.1722C>G (p.Ser574=)
c.778-530C>G (n.778-530C>G)
c.1527C>G (p.Ser509=)
17g.44255751G>TCA500287033SLC4A1c.1722C>A (p.Ser574=)
c.778-530C>A (n.778-530C>A)
c.1527C>A (p.Ser509=)
 dbSNP gnomAD v3 gnomAD v4
17g.44255752G>ACA399784280SLC4A1c.1721C>T (p.Ser574Phe)
c.778-531C>T (n.778-531C>T)
c.1526C>T (p.Ser509Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.44255752G>CCA399784281SLC4A1c.1721C>G (p.Ser574Cys)
c.778-531C>G (n.778-531C>G)
c.1526C>G (p.Ser509Cys)
17g.44255752G=CA2261308804SLC4A1c.1721C= (p.Ser574=)
c.778-531C= (n.778-531C=)
c.1526C= (p.Ser509=)
17g.44255752G>TCA399784283SLC4A1c.1721C>A (p.Ser574Tyr)
c.778-531C>A (n.778-531C>A)
c.1526C>A (p.Ser509Tyr)
17g.44255753A>CCA399784289SLC4A1c.1720T>G (p.Ser574Ala)
c.778-532T>G (n.778-532T>G)
c.1525T>G (p.Ser509Ala)
17g.44255753A>GCA399784288SLC4A1c.1720T>C (p.Ser574Pro)
c.778-532T>C (n.778-532T>C)
c.1525T>C (p.Ser509Pro)
17g.44255753A>TCA399784287SLC4A1c.1720T>A (p.Ser574Thr)
c.778-532T>A (n.778-532T>A)
c.1525T>A (p.Ser509Thr)
17g.44255754G>ACA500287035SLC4A1c.1719C>T (p.Leu573=)
c.778-533C>T (n.778-533C>T)
c.1524C>T (p.Leu508=)
17g.44255754G>CCA500287036SLC4A1c.1719C>G (p.Leu573=)
c.778-533C>G (n.778-533C>G)
c.1524C>G (p.Leu508=)
17g.44255754G>TCA500287037SLC4A1c.1719C>A (p.Leu573=)
c.778-533C>A (n.778-533C>A)
c.1524C>A (p.Leu508=)
17g.44255755A>CCA399784292SLC4A1c.1718T>G (p.Leu573Arg)
c.778-534T>G (n.778-534T>G)
c.1523T>G (p.Leu508Arg)
17g.44255755A>GCA399784302SLC4A1c.1718T>C (p.Leu573Pro)
c.778-534T>C (n.778-534T>C)
c.1523T>C (p.Leu508Pro)
17g.44255755A>TCA399784303SLC4A1c.1718T>A (p.Leu573His)
c.778-534T>A (n.778-534T>A)
c.1523T>A (p.Leu508His)
17g.44255756G>ACA399784304SLC4A1c.1717C>T (p.Leu573Phe)
c.778-535C>T (n.778-535C>T)
c.1522C>T (p.Leu508Phe)
 dbSNP
17g.44255756G>CCA399784307SLC4A1c.1717C>G (p.Leu573Val)
c.778-535C>G (n.778-535C>G)
c.1522C>G (p.Leu508Val)
 gnomAD v4
17g.44255756G=CA2261308805SLC4A1c.1717C= (p.Leu573=)
c.778-535C= (n.778-535C=)
c.1522C= (p.Leu508=)
17g.44255756G>TCA399784309SLC4A1c.1717C>A (p.Leu573Ile)
c.778-535C>A (n.778-535C>A)
c.1522C>A (p.Leu508Ile)
 COSMIC
17g.44255757G>ACA500287039SLC4A1c.1716C>T (p.Leu572=)
c.778-536C>T (n.778-536C>T)
c.1521C>T (p.Leu507=)
 dbSNP gnomAD v4 COSMIC
17g.44255757G>CCA500287040SLC4A1c.1716C>G (p.Leu572=)
c.778-536C>G (n.778-536C>G)
c.1521C>G (p.Leu507=)
17g.44255757G=CA2261308806SLC4A1c.1716C= (p.Leu572=)
c.778-536C= (n.778-536C=)
c.1521C= (p.Leu507=)
17g.44255757G>TCA500287041SLC4A1c.1716C>A (p.Leu572=)
c.778-536C>A (n.778-536C>A)
c.1521C>A (p.Leu507=)
17g.44255758A>CCA399784313SLC4A1c.1715T>G (p.Leu572Arg)
c.778-537T>G (n.778-537T>G)
c.1520T>G (p.Leu507Arg)
17g.44255758A>GCA399784316SLC4A1c.1715T>C (p.Leu572Pro)
c.778-537T>C (n.778-537T>C)
c.1520T>C (p.Leu507Pro)
 gnomAD v4
17g.44255758A>TCA399784318SLC4A1c.1715T>A (p.Leu572His)
c.778-537T>A (n.778-537T>A)
c.1520T>A (p.Leu507His)
17g.44255759G>ACA399784319SLC4A1c.1714C>T (p.Leu572Phe)
c.778-538C>T (n.778-538C>T)
c.1519C>T (p.Leu507Phe)
17g.44255759G>CCA399784320SLC4A1c.1714C>G (p.Leu572Val)
c.778-538C>G (n.778-538C>G)
c.1519C>G (p.Leu507Val)
17g.44255759G>TCA399784321SLC4A1c.1714C>A (p.Leu572Ile)
c.778-538C>A (n.778-538C>A)
c.1519C>A (p.Leu507Ile)
17g.44255760G>ACA500287042SLC4A1c.1713C>T (p.Ala571=)
c.778-539C>T (n.778-539C>T)
c.1518C>T (p.Ala506=)
17g.44255760G>CCA500287043SLC4A1c.1713C>G (p.Ala571=)
c.778-539C>G (n.778-539C>G)
c.1518C>G (p.Ala506=)
17g.44255760G>TCA500287044SLC4A1c.1713C>A (p.Ala571=)
c.778-539C>A (n.778-539C>A)
c.1518C>A (p.Ala506=)
17g.44255761G>ACA399784329SLC4A1c.1712C>T (p.Ala571Val)
c.778-540C>T (n.778-540C>T)
c.1517C>T (p.Ala506Val)
17g.44255761G>CCA399784326SLC4A1c.1712C>G (p.Ala571Gly)
c.778-540C>G (n.778-540C>G)
c.1517C>G (p.Ala506Gly)
17g.44255761G>TCA399784324SLC4A1c.1712C>A (p.Ala571Asp)
c.778-540C>A (n.778-540C>A)
c.1517C>A (p.Ala506Asp)

Number of alleles fetched