Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189571635G>ACA2662329327SLC40A1c.514+80C>T (n.514+80C>T)
c.394+80C>T (n.394+80C>T)
 gnomAD v4
2g.189571635G>TCA2662329328SLC40A1c.514+80C>A (n.514+80C>A)
c.394+80C>A (n.394+80C>A)
 gnomAD v4
2g.189571638T=CA1315650210SLC40A1c.514+77A= (n.514+77A=)
c.394+77A= (n.394+77A=)
2g.189571639T>CCA2662329329SLC40A1c.514+76A>G (n.514+76A>G)
c.394+76A>G (n.394+76A>G)
 gnomAD v4
2g.189571639_189571640insCTCA1315650212SLC40A1c.514+76_514+77insGA (n.514+76_514+77insGA)
c.394+76_394+77insGA (n.394+76_394+77insGA)
 dbSNP
2g.189571641C>ACA1315650214SLC40A1c.514+74G>T (n.514+74G>T)
c.394+74G>T (n.394+74G>T)
 dbSNP
2g.189571641C=CA1315650213SLC40A1c.514+74G= (n.514+74G=)
c.394+74G= (n.394+74G=)
2g.189571641C>TCA2662329330SLC40A1c.514+74G>A (n.514+74G>A)
c.394+74G>A (n.394+74G>A)
 gnomAD v4
2g.189571644C>ACA62903693SLC40A1c.514+71G>T (n.514+71G>T)
c.394+71G>T (n.394+71G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571644C=CA1315650216SLC40A1c.514+71G= (n.514+71G=)
c.394+71G= (n.394+71G=)
2g.189571644C>TCA62903692SLC40A1c.514+71G>A (n.514+71G>A)
c.394+71G>A (n.394+71G>A)
 dbSNP
2g.189571645C=CA1315650219SLC40A1c.514+70G= (n.514+70G=)
c.394+70G= (n.394+70G=)
2g.189571645C>TCA62903694SLC40A1c.514+70G>A (n.514+70G>A)
c.394+70G>A (n.394+70G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571647C=CA1315650222SLC40A1c.514+68G= (n.514+68G=)
c.394+68G= (n.394+68G=)
2g.189571647C>GCA2662329332SLC40A1c.514+68G>C (n.514+68G>C)
c.394+68G>C (n.394+68G>C)
 gnomAD v4
2g.189571647C>TCA1315650221SLC40A1c.514+68G>A (n.514+68G>A)
c.394+68G>A (n.394+68G>A)
 dbSNP gnomAD v4
2g.189571648A=CA1315650224SLC40A1c.514+67T= (n.514+67T=)
c.394+67T= (n.394+67T=)
2g.189571648A>CCA762274905SLC40A1c.514+67T>G (n.514+67T>G)
c.394+67T>G (n.394+67T>G)
 dbSNP gnomAD v4
2g.189571648A>TCA2753593983SLC40A1c.514+67T>A (n.514+67T>A)
c.394+67T>A (n.394+67T>A)
2g.189571649T>CCA62903695SLC40A1c.514+66A>G (n.514+66A>G)
c.394+66A>G (n.394+66A>G)
 dbSNP
2g.189571649T>GCA2662329333SLC40A1c.514+66A>C (n.514+66A>C)
c.394+66A>C (n.394+66A>C)
 gnomAD v4
2g.189571649T=CA1315650226SLC40A1c.514+66A= (n.514+66A=)
c.394+66A= (n.394+66A=)
2g.189571652A>GCA2662329334SLC40A1c.514+63T>C (n.514+63T>C)
c.394+63T>C (n.394+63T>C)
 dbSNP gnomAD v4
2g.189571653T>GCA2662329335SLC40A1c.514+62A>C (n.514+62A>C)
c.394+62A>C (n.394+62A>C)
 gnomAD v4
2g.189571656C>ACA62903696SLC40A1c.514+59G>T (n.514+59G>T)
c.394+59G>T (n.394+59G>T)
 dbSNP
2g.189571656C=CA1315650228SLC40A1c.514+59G= (n.514+59G=)
c.394+59G= (n.394+59G=)
2g.189571656C>TCA62903697SLC40A1c.514+59G>A (n.514+59G>A)
c.394+59G>A (n.394+59G>A)
 dbSNP gnomAD v4
2g.189571657C>GCA2662329336SLC40A1c.514+58G>C (n.514+58G>C)
c.394+58G>C (n.394+58G>C)
 gnomAD v4
2g.189571659C>ACA2662329337SLC40A1c.514+56G>T (n.514+56G>T)
c.394+56G>T (n.394+56G>T)
 gnomAD v4
2g.189571660C=CA1315650232SLC40A1c.514+55G= (n.514+55G=)
c.394+55G= (n.394+55G=)
2g.189571660C>GCA2662329339SLC40A1c.514+55G>C (n.514+55G>C)
c.394+55G>C (n.394+55G>C)
 gnomAD v4
2g.189571660C>TCA538593429SLC40A1c.514+55G>A (n.514+55G>A)
c.394+55G>A (n.394+55G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571661G>ACA762274914SLC40A1c.514+54C>T (n.514+54C>T)
c.394+54C>T (n.394+54C>T)
 dbSNP gnomAD v4
2g.189571661G=CA1315650234SLC40A1c.514+54C= (n.514+54C=)
c.394+54C= (n.394+54C=)
2g.189571661G>TCA2662329346SLC40A1c.514+54C>A (n.514+54C>A)
c.394+54C>A (n.394+54C>A)
 gnomAD v4
2g.189571662A=CA1315650236SLC40A1c.514+53T= (n.514+53T=)
c.394+53T= (n.394+53T=)
2g.189571663T>CCA2662329349SLC40A1c.514+52A>G (n.514+52A>G)
c.394+52A>G (n.394+52A>G)
 gnomAD v4
2g.189571665dupCA1315650237SLC40A1c.514+52dup (n.514+52dup)
c.394+52dup (n.394+52dup)
 dbSNP
2g.189571665T>ACA1315650240SLC40A1c.514+50A>T (n.514+50A>T)
c.394+50A>T (n.394+50A>T)
 dbSNP
2g.189571665T=CA1315650238SLC40A1c.514+50A= (n.514+50A=)
c.394+50A= (n.394+50A=)
2g.189571666A=CA1315650243SLC40A1c.514+49T= (n.514+49T=)
c.394+49T= (n.394+49T=)
2g.189571666A>GCA2024213SLC40A1c.514+49T>C (n.514+49T>C)
c.394+49T>C (n.394+49T>C)
 dbSNP ExAC gnomAD v2
2g.189571668delCA2662329350SLC40A1c.514+49del (n.514+49del)
c.394+49del (n.394+49del)
 gnomAD v4
2g.189571670T>GCA2662329351SLC40A1c.514+45A>C (n.514+45A>C)
c.394+45A>C (n.394+45A>C)
 gnomAD v4
2g.189571671G>CCA2519898931SLC40A1c.514+44C>G (n.514+44C>G)
c.394+44C>G (n.394+44C>G)
2g.189571671G>TCA2753593984SLC40A1c.514+44C>A (n.514+44C>A)
c.394+44C>A (n.394+44C>A)
2g.189571674T>CCA538593436SLC40A1c.514+41A>G (n.514+41A>G)
c.394+41A>G (n.394+41A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571674T>GCA2577188113SLC40A1c.514+41A>C (n.514+41A>C)
c.394+41A>C (n.394+41A>C)
2g.189571674T=CA1315650246SLC40A1c.514+41A= (n.514+41A=)
c.394+41A= (n.394+41A=)
2g.189571675C>ACA762274922SLC40A1c.514+40G>T (n.514+40G>T)
c.394+40G>T (n.394+40G>T)
 dbSNP
2g.189571675C=CA1315650247SLC40A1c.514+40G= (n.514+40G=)
c.394+40G= (n.394+40G=)
2g.189571676C=CA1315650249SLC40A1c.514+39G= (n.514+39G=)
c.394+39G= (n.394+39G=)
2g.189571676C>TCA2024214SLC40A1c.514+39G>A (n.514+39G>A)
c.394+39G>A (n.394+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571676_189571682dupCA1040450861SLC40A1c.514+33_514+39dup (n.514+33_514+39dup)
c.394+33_394+39dup (n.394+33_394+39dup)
 dbSNP gnomAD v3 gnomAD v4
2g.189571677T>CCA2662329355SLC40A1c.514+38A>G (n.514+38A>G)
c.394+38A>G (n.394+38A>G)
 gnomAD v4
2g.189571680C=CA1315650251SLC40A1c.514+35G= (n.514+35G=)
c.394+35G= (n.394+35G=)
2g.189571680C>TCA538593443SLC40A1c.514+35G>A (n.514+35G>A)
c.394+35G>A (n.394+35G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189571682T>ACA2753593985SLC40A1c.514+33A>T (n.514+33A>T)
c.394+33A>T (n.394+33A>T)
2g.189571682T>CCA762274929SLC40A1c.514+33A>G (n.514+33A>G)
c.394+33A>G (n.394+33A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189571682T=CA1315650254SLC40A1c.514+33A= (n.514+33A=)
c.394+33A= (n.394+33A=)
2g.189571683G>ACA1040450862SLC40A1c.514+32C>T (n.514+32C>T)
c.394+32C>T (n.394+32C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189571683G=CA1315650256SLC40A1c.514+32C= (n.514+32C=)
c.394+32C= (n.394+32C=)
2g.189571684C>ACA2662329359SLC40A1c.514+31G>T (n.514+31G>T)
c.394+31G>T (n.394+31G>T)
 gnomAD v4
2g.189571684C=CA1315650259SLC40A1c.514+31G= (n.514+31G=)
c.394+31G= (n.394+31G=)
2g.189571684C>TCA538593445SLC40A1c.514+31G>A (n.514+31G>A)
c.394+31G>A (n.394+31G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.189571684_189571689delinsCTCATTCA1315650261SLC40A1c.514+26_514+31delinsAATGAG (n.514+26_514+31delinsAATGAG)
c.394+26_394+31delinsAATGAG (n.394+26_394+31delinsAATGAG)
2g.189571685T>GCA2662329361SLC40A1c.514+30A>C (n.514+30A>C)
c.394+30A>C (n.394+30A>C)
 gnomAD v4
2g.189571690_189571694delCA1315650263SLC40A1c.514+26_514+30del (n.514+26_514+30del)
c.394+26_394+30del (n.394+26_394+30del)
 dbSNP
2g.189571687A=CA1315650264SLC40A1c.514+28T= (n.514+28T=)
c.394+28T= (n.394+28T=)
2g.189571687A>GCA2024215SLC40A1c.514+28T>C (n.514+28T>C)
c.394+28T>C (n.394+28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571688T>CCA2024216SLC40A1c.514+27A>G (n.514+27A>G)
c.394+27A>G (n.394+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571688T=CA1315650267SLC40A1c.514+27A= (n.514+27A=)
c.394+27A= (n.394+27A=)
2g.189571689T>CCA2577188114SLC40A1c.514+26A>G (n.514+26A>G)
c.394+26A>G (n.394+26A>G)
 gnomAD v4
2g.189571690T>ACA2024217SLC40A1c.514+25A>T (n.514+25A>T)
c.394+25A>T (n.394+25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571690T>GCA538593453SLC40A1c.514+25A>C (n.514+25A>C)
c.394+25A>C (n.394+25A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571690T=CA1315650274SLC40A1c.514+25A= (n.514+25A=)
c.394+25A= (n.394+25A=)
2g.189571691C>ACA62903698SLC40A1c.514+24G>T (n.514+24G>T)
c.394+24G>T (n.394+24G>T)
 dbSNP gnomAD v4
2g.189571691C=CA1315650277SLC40A1c.514+24G= (n.514+24G=)
c.394+24G= (n.394+24G=)
2g.189571693T>CCA1040450864SLC40A1c.514+22A>G (n.514+22A>G)
c.394+22A>G (n.394+22A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189571693T=CA1315650279SLC40A1c.514+22A= (n.514+22A=)
c.394+22A= (n.394+22A=)
2g.189571694T>CCA2024218SLC40A1c.514+21A>G (n.514+21A>G)
c.394+21A>G (n.394+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571694T=CA1315650281SLC40A1c.514+21A= (n.514+21A=)
c.394+21A= (n.394+21A=)
2g.189571695A=CA1315650283SLC40A1c.514+20T= (n.514+20T=)
c.394+20T= (n.394+20T=)
2g.189571695A>CCA2577188115SLC40A1c.514+20T>G (n.514+20T>G)
c.394+20T>G (n.394+20T>G)
2g.189571695A>GCA62903699SLC40A1c.514+20T>C (n.514+20T>C)
c.394+20T>C (n.394+20T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571696A=CA1315650285SLC40A1c.514+19T= (n.514+19T=)
c.394+19T= (n.394+19T=)
2g.189571696A>CCA2024219SLC40A1c.514+19T>G (n.514+19T>G)
c.394+19T>G (n.394+19T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571699G>ACA1040450866SLC40A1c.514+16C>T (n.514+16C>T)
c.394+16C>T (n.394+16C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189571699G=CA1315650287SLC40A1c.514+16C= (n.514+16C=)
c.394+16C= (n.394+16C=)
2g.189571701G>ACA2662329372SLC40A1c.514+14C>T (n.514+14C>T)
c.394+14C>T (n.394+14C>T)
 gnomAD v4
2g.189571707C>TCA2577188116SLC40A1c.514+8G>A (n.514+8G>A)
c.394+8G>A (n.394+8G>A)
2g.189571709A=CA1315650292SLC40A1c.514+6T= (n.514+6T=)
c.394+6T= (n.394+6T=)
2g.189571709A>GCA538593463SLC40A1c.514+6T>C (n.514+6T>C)
c.394+6T>C (n.394+6T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571709A>TCA2024220SLC40A1c.514+6T>A (n.514+6T>A)
c.394+6T>A (n.394+6T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571713A>CCA349989035SLC40A1c.514+2T>G (n.514+2T>G)
c.394+2T>G (n.394+2T>G)
2g.189571713A>GCA349989036SLC40A1c.514+2T>C (n.514+2T>C)
c.394+2T>C (n.394+2T>C)
2g.189571713A>TCA349989037SLC40A1c.514+2T>A (n.514+2T>A)
c.394+2T>A (n.394+2T>A)
2g.189571714C>ACA349989038SLC40A1c.514+1G>T (n.514+1G>T)
c.394+1G>T (n.394+1G>T)
2g.189571714C>GCA349989039SLC40A1c.514+1G>C (n.514+1G>C)
c.394+1G>C (n.394+1G>C)
2g.189571714C>TCA349989040SLC40A1c.514+1G>A (n.514+1G>A)
c.394+1G>A (n.394+1G>A)
2g.189571715T>ACA349989041SLC40A1c.514A>T (p.Asn172Tyr)
c.394A>T (p.Asn132Tyr)
2g.189571715T>CCA349989042SLC40A1c.514A>G (p.Asn172Asp)
c.394A>G (p.Asn132Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189571715T>GCA349989043SLC40A1c.514A>C (p.Asn172His)
c.394A>C (p.Asn132His)
2g.189571715T=CA1315650296SLC40A1c.514A= (p.Asn172=)
c.394A= (p.Asn132=)
2g.189571716T>ACA430367321SLC40A1c.513A>T (p.Ala171=)
c.393A>T (p.Ala131=)
2g.189571716T>CCA430367322SLC40A1c.513A>G (p.Ala171=)
c.393A>G (p.Ala131=)
2g.189571716T>GCA430367323SLC40A1c.513A>C (p.Ala171=)
c.393A>C (p.Ala131=)
2g.189571717G>ACA349989045SLC40A1c.512C>T (p.Ala171Val)
c.392C>T (p.Ala131Val)
2g.189571717G>CCA349989046SLC40A1c.512C>G (p.Ala171Gly)
c.392C>G (p.Ala131Gly)
2g.189571717G>TCA349989044SLC40A1c.512C>A (p.Ala171Glu)
c.392C>A (p.Ala131Glu)
 gnomAD v4
2g.189571718C>ACA349989047SLC40A1c.511G>T (p.Ala171Ser)
c.391G>T (p.Ala131Ser)
2g.189571718C>GCA349989048SLC40A1c.511G>C (p.Ala171Pro)
c.391G>C (p.Ala131Pro)
2g.189571718C>TCA349989049SLC40A1c.511G>A (p.Ala171Thr)
c.391G>A (p.Ala131Thr)
2g.189571719T>ACA430367324SLC40A1c.510A>T (p.Leu170=)
c.390A>T (p.Leu130=)
2g.189571719T>CCA430367325SLC40A1c.510A>G (p.Leu170=)
c.390A>G (p.Leu130=)
2g.189571719T>GCA430367326SLC40A1c.510A>C (p.Leu170=)
c.390A>C (p.Leu130=)
2g.189571720A>CCA349989050SLC40A1c.509T>G (p.Leu170Arg)
c.389T>G (p.Leu130Arg)
2g.189571720A>GCA349989051SLC40A1c.509T>C (p.Leu170Pro)
c.389T>C (p.Leu130Pro)
2g.189571720A>TCA349989052SLC40A1c.509T>A (p.Leu170Gln)
c.389T>A (p.Leu130Gln)
2g.189571721G>ACA430367327SLC40A1c.508C>T (p.Leu170=)
c.388C>T (p.Leu130=)
 dbSNP gnomAD v4
2g.189571721G>CCA349989053SLC40A1c.508C>G (p.Leu170Val)
c.388C>G (p.Leu130Val)
2g.189571721G=CA1315650299SLC40A1c.508C= (p.Leu170=)
c.388C= (p.Leu130=)
2g.189571721G>TCA349989054SLC40A1c.508C>A (p.Leu170Ile)
c.388C>A (p.Leu130Ile)
2g.189571722T>ACA349989055SLC40A1c.507A>T (p.Lys169Asn)
c.387A>T (p.Lys129Asn)
2g.189571722T>CCA430367328SLC40A1c.507A>G (p.Lys169=)
c.387A>G (p.Lys129=)
 dbSNP
2g.189571722T>GCA349989056SLC40A1c.507A>C (p.Lys169Asn)
c.387A>C (p.Lys129Asn)
2g.189571722T=CA1315650304SLC40A1c.507A= (p.Lys169=)
c.387A= (p.Lys129=)
2g.189571723T>ACA349989057SLC40A1c.506A>T (p.Lys169Ile)
c.386A>T (p.Lys129Ile)
2g.189571723T>CCA349989058SLC40A1c.506A>G (p.Lys169Arg)
c.386A>G (p.Lys129Arg)
2g.189571723T>GCA349989059SLC40A1c.506A>C (p.Lys169Thr)
c.386A>C (p.Lys129Thr)
 gnomAD v4
2g.189571724T>ACA349989060SLC40A1c.505A>T (p.Lys169Ter)
c.385A>T (p.Lys129Ter)
2g.189571724T>CCA349989061SLC40A1c.505A>G (p.Lys169Glu)
c.385A>G (p.Lys129Glu)
2g.189571724T>GCA2024221SLC40A1c.505A>C (p.Lys169Gln)
c.385A>C (p.Lys129Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571724T=CA1315650310SLC40A1c.505A= (p.Lys169=)
c.385A= (p.Lys129=)
2g.189571725G>ACA430367329SLC40A1c.504C>T (p.Ser168=)
c.384C>T (p.Ser128=)
2g.189571725G>CCA349989062SLC40A1c.504C>G (p.Ser168Arg)
c.384C>G (p.Ser128Arg)
 gnomAD v4
2g.189571725G>TCA349989063SLC40A1c.504C>A (p.Ser168Arg)
c.384C>A (p.Ser128Arg)
2g.189571726C>ACA349989064SLC40A1c.503G>T (p.Ser168Ile)
c.383G>T (p.Ser128Ile)
2g.189571726C>GCA349989066SLC40A1c.503G>C (p.Ser168Thr)
c.383G>C (p.Ser128Thr)
2g.189571726C>TCA349989065SLC40A1c.503G>A (p.Ser168Asn)
c.383G>A (p.Ser128Asn)
2g.189571727T>ACA349989067SLC40A1c.502A>T (p.Ser168Cys)
c.382A>T (p.Ser128Cys)
2g.189571727T>CCA349989068SLC40A1c.502A>G (p.Ser168Gly)
c.382A>G (p.Ser128Gly)
2g.189571727T>GCA349989069SLC40A1c.502A>C (p.Ser168Arg)
c.382A>C (p.Ser128Arg)
2g.189571728T>ACA349989070SLC40A1c.501A>T (p.Arg167Ser)
c.381A>T (p.Arg127Ser)
2g.189571728T>CCA430367330SLC40A1c.501A>G (p.Arg167=)
c.381A>G (p.Arg127=)
 dbSNP
2g.189571728T>GCA349989071SLC40A1c.501A>C (p.Arg167Ser)
c.381A>C (p.Arg127Ser)
2g.189571728T=CA1315650315SLC40A1c.501A= (p.Arg167=)
c.381A= (p.Arg127=)
2g.189571729C>ACA349989072SLC40A1c.500G>T (p.Arg167Ile)
c.380G>T (p.Arg127Ile)
2g.189571729C=CA1315650319SLC40A1c.500G= (p.Arg167=)
c.380G= (p.Arg127=)
2g.189571729C>GCA349989073SLC40A1c.500G>C (p.Arg167Thr)
c.380G>C (p.Arg127Thr)
2g.189571729C>TCA2024222SLC40A1c.500G>A (p.Arg167Lys)
c.380G>A (p.Arg127Lys)
 dbSNP ExAC
2g.189571730T>ACA349989074SLC40A1c.499A>T (p.Arg167Ter)
c.379A>T (p.Arg127Ter)
2g.189571730T>CCA349989075SLC40A1c.499A>G (p.Arg167Gly)
c.379A>G (p.Arg127Gly)
2g.189571730T>GCA430367331SLC40A1c.499A>C (p.Arg167=)
c.379A>C (p.Arg127=)
2g.189571731G>ACA430367332SLC40A1c.498C>T (p.Asp166=)
c.378C>T (p.Asp126=)
 dbSNP gnomAD v4
2g.189571731G>CCA349989076SLC40A1c.498C>G (p.Asp166Glu)
c.378C>G (p.Asp126Glu)
2g.189571731G=CA1315650322SLC40A1c.498C= (p.Asp166=)
c.378C= (p.Asp126=)
2g.189571731G>TCA349989077SLC40A1c.498C>A (p.Asp166Glu)
c.378C>A (p.Asp126Glu)
2g.189571732T>ACA349989078SLC40A1c.497A>T (p.Asp166Val)
c.377A>T (p.Asp126Val)
2g.189571732T>CCA349989079SLC40A1c.497A>G (p.Asp166Gly)
c.377A>G (p.Asp126Gly)
2g.189571732T>GCA349989080SLC40A1c.497A>C (p.Asp166Ala)
c.377A>C (p.Asp126Ala)
2g.189571733C>ACA349989081SLC40A1c.496G>T (p.Asp166Tyr)
c.376G>T (p.Asp126Tyr)
2g.189571733C>GCA349989083SLC40A1c.496G>C (p.Asp166His)
c.376G>C (p.Asp126His)
2g.189571733C>TCA349989082SLC40A1c.496G>A (p.Asp166Asn)
c.376G>A (p.Asp126Asn)
 gnomAD v4 COSMIC
2g.189571734T>ACA349989084SLC40A1c.495A>T (p.Glu165Asp)
c.375A>T (p.Glu125Asp)
2g.189571734T>CCA430367333SLC40A1c.495A>G (p.Glu165=)
c.375A>G (p.Glu125=)
 gnomAD v4
2g.189571734T>GCA349989085SLC40A1c.495A>C (p.Glu165Asp)
c.375A>C (p.Glu125Asp)
2g.189571735T>ACA349989086SLC40A1c.494A>T (p.Glu165Val)
c.374A>T (p.Glu125Val)
2g.189571735T>CCA349989087SLC40A1c.494A>G (p.Glu165Gly)
c.374A>G (p.Glu125Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571735T>GCA349989088SLC40A1c.494A>C (p.Glu165Ala)
c.374A>C (p.Glu125Ala)
2g.189571735T=CA1315650324SLC40A1c.494A= (p.Glu165=)
c.374A= (p.Glu125=)

Number of alleles fetched