Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.151064214A>CCA370007733SLC4A2c.64A>C (p.Ser22Arg)
c.52-391A>C (n.52-391A>C)
c.37A>C (p.Ser13Arg)
c.22A>C (p.Ser8Arg)
n.299A>C
7g.151064214A>GCA370007734SLC4A2c.64A>G (p.Ser22Gly)
c.52-391A>G (n.52-391A>G)
c.37A>G (p.Ser13Gly)
c.22A>G (p.Ser8Gly)
n.299A>G
 gnomAD v4
7g.151064214A>TCA370007735SLC4A2c.64A>T (p.Ser22Cys)
c.52-391A>T (n.52-391A>T)
c.37A>T (p.Ser13Cys)
c.22A>T (p.Ser8Cys)
n.299A>T
7g.151064215G>ACA370007736SLC4A2c.65G>A (p.Ser22Asn)
c.52-390G>A (n.52-390G>A)
c.38G>A (p.Ser13Asn)
c.23G>A (p.Ser8Asn)
n.300G>A
7g.151064215G>CCA370007737SLC4A2c.65G>C (p.Ser22Thr)
c.52-390G>C (n.52-390G>C)
c.38G>C (p.Ser13Thr)
c.23G>C (p.Ser8Thr)
n.300G>C
7g.151064215G>TCA370007738SLC4A2c.65G>T (p.Ser22Ile)
c.52-390G>T (n.52-390G>T)
c.38G>T (p.Ser13Ile)
c.23G>T (p.Ser8Ile)
n.300G>T
7g.151064216C>ACA370007740SLC4A2c.66C>A (p.Ser22Arg)
c.52-389C>A (n.52-389C>A)
c.39C>A (p.Ser13Arg)
c.24C>A (p.Ser8Arg)
n.301C>A
7g.151064216C=CA1752500296SLC4A2c.66C= (p.Ser22=)
c.52-389C= (n.52-389C=)
c.39C= (p.Ser13=)
c.24C= (p.Ser8=)
n.301C=
7g.151064216C>GCA370007739SLC4A2c.66C>G (p.Ser22Arg)
c.52-389C>G (n.52-389C>G)
c.39C>G (p.Ser13Arg)
c.24C>G (p.Ser8Arg)
n.301C>G
 dbSNP gnomAD v2 gnomAD v4
7g.151064216C>TCA169084052SLC4A2c.66C>T (p.Ser22=)
c.52-389C>T (n.52-389C>T)
c.39C>T (p.Ser13=)
c.24C>T (p.Ser8=)
n.301C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151064217T>ACA370007741SLC4A2c.67T>A (p.Leu23Met)
c.52-388T>A (n.52-388T>A)
c.40T>A (p.Leu14Met)
c.25T>A (p.Leu9Met)
n.302T>A
7g.151064217T>CCA458644810SLC4A2c.67T>C (p.Leu23=)
c.52-388T>C (n.52-388T>C)
c.40T>C (p.Leu14=)
c.25T>C (p.Leu9=)
n.302T>C
 dbSNP gnomAD v3 gnomAD v4
7g.151064217T>GCA370007742SLC4A2c.67T>G (p.Leu23Val)
c.52-388T>G (n.52-388T>G)
c.40T>G (p.Leu14Val)
c.25T>G (p.Leu9Val)
n.302T>G
7g.151064217T=CA1752500297SLC4A2c.67T= (p.Leu23=)
c.52-388T= (n.52-388T=)
c.40T= (p.Leu14=)
c.25T= (p.Leu9=)
n.302T=
7g.151064218T>ACA370007743SLC4A2c.68T>A (p.Leu23Ter)
c.52-387T>A (n.52-387T>A)
c.41T>A (p.Leu14Ter)
c.26T>A (p.Leu9Ter)
n.303T>A
7g.151064218T>CCA4570720SLC4A2c.68T>C (p.Leu23Ser)
c.52-387T>C (n.52-387T>C)
c.41T>C (p.Leu14Ser)
c.26T>C (p.Leu9Ser)
n.303T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064218T>GCA370007744SLC4A2c.68T>G (p.Leu23Trp)
c.52-387T>G (n.52-387T>G)
c.41T>G (p.Leu14Trp)
c.26T>G (p.Leu9Trp)
n.303T>G
7g.151064218T=CA1752500298SLC4A2c.68T= (p.Leu23=)
c.52-387T= (n.52-387T=)
c.41T= (p.Leu14=)
c.26T= (p.Leu9=)
n.303T=
7g.151064219G>ACA458644813SLC4A2c.69G>A (p.Leu23=)
c.52-386G>A (n.52-386G>A)
c.42G>A (p.Leu14=)
c.27G>A (p.Leu9=)
n.304G>A
7g.151064219G>CCA370007745SLC4A2c.69G>C (p.Leu23Phe)
c.52-386G>C (n.52-386G>C)
c.42G>C (p.Leu14Phe)
c.27G>C (p.Leu9Phe)
n.304G>C
7g.151064219G>TCA370007746SLC4A2c.69G>T (p.Leu23Phe)
c.52-386G>T (n.52-386G>T)
c.42G>T (p.Leu14Phe)
c.27G>T (p.Leu9Phe)
n.304G>T
7g.151064220_151064221delCA2685635316SLC4A2c.70_71del (p.Gly24ProfsTer24)
c.52-385_52-384del (n.52-385_52-384del)
c.43_44del (p.Gly15ProfsTer24)
c.28_29del (p.Gly10ProfsTer24)
n.305_306del
 gnomAD v4
7g.151064220G>ACA370007747SLC4A2c.70G>A (p.Gly24Ser)
c.52-385G>A (n.52-385G>A)
c.43G>A (p.Gly15Ser)
c.28G>A (p.Gly10Ser)
n.305G>A
 gnomAD v4
7g.151064220G>CCA370007748SLC4A2c.70G>C (p.Gly24Arg)
c.52-385G>C (n.52-385G>C)
c.43G>C (p.Gly15Arg)
c.28G>C (p.Gly10Arg)
n.305G>C
7g.151064220G>TCA370007749SLC4A2c.70G>T (p.Gly24Cys)
c.52-385G>T (n.52-385G>T)
c.43G>T (p.Gly15Cys)
c.28G>T (p.Gly10Cys)
n.305G>T
7g.151064221G>ACA370007750SLC4A2c.71G>A (p.Gly24Asp)
c.52-384G>A (n.52-384G>A)
c.44G>A (p.Gly15Asp)
c.29G>A (p.Gly10Asp)
n.306G>A
 gnomAD v4
7g.151064221G>CCA370007751SLC4A2c.71G>C (p.Gly24Ala)
c.52-384G>C (n.52-384G>C)
c.44G>C (p.Gly15Ala)
c.29G>C (p.Gly10Ala)
n.306G>C
7g.151064221G>TCA370007752SLC4A2c.71G>T (p.Gly24Val)
c.52-384G>T (n.52-384G>T)
c.44G>T (p.Gly15Val)
c.29G>T (p.Gly10Val)
n.306G>T
7g.151064222C>ACA458644816SLC4A2c.72C>A (p.Gly24=)
c.52-383C>A (n.52-383C>A)
c.45C>A (p.Gly15=)
c.30C>A (p.Gly10=)
n.307C>A
7g.151064222C=CA1752500299SLC4A2c.72C= (p.Gly24=)
c.52-383C= (n.52-383C=)
c.45C= (p.Gly15=)
c.30C= (p.Gly10=)
n.307C=
7g.151064222C>GCA458644818SLC4A2c.72C>G (p.Gly24=)
c.52-383C>G (n.52-383C>G)
c.45C>G (p.Gly15=)
c.30C>G (p.Gly10=)
n.307C>G
7g.151064222C>TCA458644817SLC4A2c.72C>T (p.Gly24=)
c.52-383C>T (n.52-383C>T)
c.45C>T (p.Gly15=)
c.30C>T (p.Gly10=)
n.307C>T
 dbSNP gnomAD v4
7g.151064223C>ACA370007755SLC4A2c.73C>A (p.Pro25Thr)
c.52-382C>A (n.52-382C>A)
c.46C>A (p.Pro16Thr)
c.31C>A (p.Pro11Thr)
n.308C>A
7g.151064223C=CA1752500300SLC4A2c.73C= (p.Pro25=)
c.52-382C= (n.52-382C=)
c.46C= (p.Pro16=)
c.31C= (p.Pro11=)
n.308C=
7g.151064223C>GCA370007754SLC4A2c.73C>G (p.Pro25Ala)
c.52-382C>G (n.52-382C>G)
c.46C>G (p.Pro16Ala)
c.31C>G (p.Pro11Ala)
n.308C>G
7g.151064223C>TCA370007753SLC4A2c.73C>T (p.Pro25Ser)
c.52-382C>T (n.52-382C>T)
c.46C>T (p.Pro16Ser)
c.31C>T (p.Pro11Ser)
n.308C>T
 dbSNP gnomAD v2 gnomAD v4
7g.151064224C>ACA370007756SLC4A2c.74C>A (p.Pro25His)
c.52-381C>A (n.52-381C>A)
c.47C>A (p.Pro16His)
c.32C>A (p.Pro11His)
n.309C>A
7g.151064224C=CA1752500301SLC4A2c.74C= (p.Pro25=)
c.52-381C= (n.52-381C=)
c.47C= (p.Pro16=)
c.32C= (p.Pro11=)
n.309C=
7g.151064224C>GCA370007757SLC4A2c.74C>G (p.Pro25Arg)
c.52-381C>G (n.52-381C>G)
c.47C>G (p.Pro16Arg)
c.32C>G (p.Pro11Arg)
n.309C>G
 dbSNP gnomAD v2 gnomAD v4
7g.151064224C>TCA370007758SLC4A2c.74C>T (p.Pro25Leu)
c.52-381C>T (n.52-381C>T)
c.47C>T (p.Pro16Leu)
c.32C>T (p.Pro11Leu)
n.309C>T
7g.151064225T>ACA458644823SLC4A2c.75T>A (p.Pro25=)
c.52-380T>A (n.52-380T>A)
c.48T>A (p.Pro16=)
c.33T>A (p.Pro11=)
n.310T>A
7g.151064225T>CCA458644824SLC4A2c.75T>C (p.Pro25=)
c.52-380T>C (n.52-380T>C)
c.48T>C (p.Pro16=)
c.33T>C (p.Pro11=)
n.310T>C
 gnomAD v4
7g.151064225T>GCA458644825SLC4A2c.75T>G (p.Pro25=)
c.52-380T>G (n.52-380T>G)
c.48T>G (p.Pro16=)
c.33T>G (p.Pro11=)
n.310T>G
7g.151064226G>ACA370007759SLC4A2c.76G>A (p.Gly26Arg)
c.52-379G>A (n.52-379G>A)
c.49G>A (p.Gly17Arg)
c.34G>A (p.Gly12Arg)
n.311G>A
7g.151064226G>CCA370007760SLC4A2c.76G>C (p.Gly26Arg)
c.52-379G>C (n.52-379G>C)
c.49G>C (p.Gly17Arg)
c.34G>C (p.Gly12Arg)
n.311G>C
 dbSNP gnomAD v3 gnomAD v4
7g.151064226G=CA1752500302SLC4A2c.76G= (p.Gly26=)
c.52-379G= (n.52-379G=)
c.49G= (p.Gly17=)
c.34G= (p.Gly12=)
n.311G=
7g.151064226G>TCA370007761SLC4A2c.76G>T (p.Gly26Trp)
c.52-379G>T (n.52-379G>T)
c.49G>T (p.Gly17Trp)
c.34G>T (p.Gly12Trp)
n.311G>T
7g.151064227G>ACA4570721SLC4A2c.77G>A (p.Gly26Glu)
c.52-378G>A (n.52-378G>A)
c.50G>A (p.Gly17Glu)
c.35G>A (p.Gly12Glu)
n.312G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064227G>CCA370007762SLC4A2c.77G>C (p.Gly26Ala)
c.52-378G>C (n.52-378G>C)
c.50G>C (p.Gly17Ala)
c.35G>C (p.Gly12Ala)
n.312G>C
7g.151064227G=CA1752500303SLC4A2c.77G= (p.Gly26=)
c.52-378G= (n.52-378G=)
c.50G= (p.Gly17=)
c.35G= (p.Gly12=)
n.312G=
7g.151064227G>TCA370007763SLC4A2c.77G>T (p.Gly26Val)
c.52-378G>T (n.52-378G>T)
c.50G>T (p.Gly17Val)
c.35G>T (p.Gly12Val)
n.312G>T
 dbSNP
7g.151064228G>ACA458644826SLC4A2c.78G>A (p.Gly26=)
c.52-377G>A (n.52-377G>A)
c.51G>A (p.Gly17=)
c.36G>A (p.Gly12=)
n.313G>A
 gnomAD v4
7g.151064228G>CCA458644827SLC4A2c.78G>C (p.Gly26=)
c.52-377G>C (n.52-377G>C)
c.51G>C (p.Gly17=)
c.36G>C (p.Gly12=)
n.313G>C
 dbSNP gnomAD v4
7g.151064228G>TCA458644828SLC4A2c.78G>T (p.Gly26=)
c.52-377G>T (n.52-377G>T)
c.51G>T (p.Gly17=)
c.36G>T (p.Gly12=)
n.313G>T
7g.151064229A>CCA370007764SLC4A2c.79A>C (p.Thr27Pro)
c.52-376A>C (n.52-376A>C)
c.52A>C (p.Thr18Pro)
c.37A>C (p.Thr13Pro)
n.314A>C
 dbSNP
7g.151064229A>GCA370007765SLC4A2c.79A>G (p.Thr27Ala)
c.52-376A>G (n.52-376A>G)
c.52A>G (p.Thr18Ala)
c.37A>G (p.Thr13Ala)
n.314A>G
7g.151064229A>TCA370007766SLC4A2c.79A>T (p.Thr27Ser)
c.52-376A>T (n.52-376A>T)
c.52A>T (p.Thr18Ser)
c.37A>T (p.Thr13Ser)
n.314A>T
7g.151064230C>ACA370007767SLC4A2c.80C>A (p.Thr27Lys)
c.52-375C>A (n.52-375C>A)
c.53C>A (p.Thr18Lys)
c.38C>A (p.Thr13Lys)
n.315C>A
7g.151064230C=CA1752500304SLC4A2c.80C= (p.Thr27=)
c.52-375C= (n.52-375C=)
c.53C= (p.Thr18=)
c.38C= (p.Thr13=)
n.315C=
7g.151064230C>GCA370007768SLC4A2c.80C>G (p.Thr27Arg)
c.52-375C>G (n.52-375C>G)
c.53C>G (p.Thr18Arg)
c.38C>G (p.Thr13Arg)
n.315C>G
7g.151064230C>TCA4570722SLC4A2c.80C>T (p.Thr27Met)
c.52-375C>T (n.52-375C>T)
c.53C>T (p.Thr18Met)
c.38C>T (p.Thr13Met)
n.315C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064231G>ACA4570723SLC4A2c.81G>A (p.Thr27=)
c.52-374G>A (n.52-374G>A)
c.54G>A (p.Thr18=)
c.39G>A (p.Thr13=)
n.316G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064231G>CCA458644831SLC4A2c.81G>C (p.Thr27=)
c.52-374G>C (n.52-374G>C)
c.54G>C (p.Thr18=)
c.39G>C (p.Thr13=)
n.316G>C
 gnomAD v4
7g.151064231G=CA1752500305SLC4A2c.81G= (p.Thr27=)
c.52-374G= (n.52-374G=)
c.54G= (p.Thr18=)
c.39G= (p.Thr13=)
n.316G=
7g.151064231G>TCA4570724SLC4A2c.81G>T (p.Thr27=)
c.52-374G>T (n.52-374G>T)
c.54G>T (p.Thr18=)
c.39G>T (p.Thr13=)
n.316G>T
 dbSNP ExAC gnomAD v4 COSMIC
7g.151064232C>ACA370007769SLC4A2c.82C>A (p.Pro28Thr)
c.52-373C>A (n.52-373C>A)
c.55C>A (p.Pro19Thr)
c.40C>A (p.Pro14Thr)
n.317C>A
7g.151064232C>GCA370007770SLC4A2c.82C>G (p.Pro28Ala)
c.52-373C>G (n.52-373C>G)
c.55C>G (p.Pro19Ala)
c.40C>G (p.Pro14Ala)
n.317C>G
7g.151064232C>TCA370007771SLC4A2c.82C>T (p.Pro28Ser)
c.52-373C>T (n.52-373C>T)
c.55C>T (p.Pro19Ser)
c.40C>T (p.Pro14Ser)
n.317C>T
7g.151064233C>ACA370007774SLC4A2c.83C>A (p.Pro28His)
c.52-372C>A (n.52-372C>A)
c.56C>A (p.Pro19His)
c.41C>A (p.Pro14His)
n.318C>A
 dbSNP gnomAD v4 COSMIC
7g.151064233C=CA1752500306SLC4A2c.83C= (p.Pro28=)
c.52-372C= (n.52-372C=)
c.56C= (p.Pro19=)
c.41C= (p.Pro14=)
n.318C=
7g.151064233C>GCA370007773SLC4A2c.83C>G (p.Pro28Arg)
c.52-372C>G (n.52-372C>G)
c.56C>G (p.Pro19Arg)
c.41C>G (p.Pro14Arg)
n.318C>G
 dbSNP gnomAD v3 gnomAD v4
7g.151064233C>TCA370007772SLC4A2c.83C>T (p.Pro28Leu)
c.52-372C>T (n.52-372C>T)
c.56C>T (p.Pro19Leu)
c.41C>T (p.Pro14Leu)
n.318C>T
7g.151064234T>ACA458644835SLC4A2c.84T>A (p.Pro28=)
c.52-371T>A (n.52-371T>A)
c.57T>A (p.Pro19=)
c.42T>A (p.Pro14=)
n.319T>A
7g.151064234T>CCA458644836SLC4A2c.84T>C (p.Pro28=)
c.52-371T>C (n.52-371T>C)
c.57T>C (p.Pro19=)
c.42T>C (p.Pro14=)
n.319T>C
7g.151064234T>GCA458644837SLC4A2c.84T>G (p.Pro28=)
c.52-371T>G (n.52-371T>G)
c.57T>G (p.Pro19=)
c.42T>G (p.Pro14=)
n.319T>G
7g.151064235G>ACA370007775SLC4A2c.85G>A (p.Gly29Arg)
c.52-370G>A (n.52-370G>A)
c.58G>A (p.Gly20Arg)
c.43G>A (p.Gly15Arg)
n.320G>A
7g.151064235G>CCA370007776SLC4A2c.85G>C (p.Gly29Arg)
c.52-370G>C (n.52-370G>C)
c.58G>C (p.Gly20Arg)
c.43G>C (p.Gly15Arg)
n.320G>C
7g.151064235G>TCA370007777SLC4A2c.85G>T (p.Gly29Trp)
c.52-370G>T (n.52-370G>T)
c.58G>T (p.Gly20Trp)
c.43G>T (p.Gly15Trp)
n.320G>T
7g.151064236G>ACA370007778SLC4A2c.86G>A (p.Gly29Glu)
c.52-369G>A (n.52-369G>A)
c.59G>A (p.Gly20Glu)
c.44G>A (p.Gly15Glu)
n.321G>A
 COSMIC
7g.151064236G>CCA4570725SLC4A2c.86G>C (p.Gly29Ala)
c.52-369G>C (n.52-369G>C)
c.59G>C (p.Gly20Ala)
c.44G>C (p.Gly15Ala)
n.321G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064236G=CA1752500307SLC4A2c.86G= (p.Gly29=)
c.52-369G= (n.52-369G=)
c.59G= (p.Gly20=)
c.44G= (p.Gly15=)
n.321G=
7g.151064236G>TCA370007779SLC4A2c.86G>T (p.Gly29Val)
c.52-369G>T (n.52-369G>T)
c.59G>T (p.Gly20Val)
c.44G>T (p.Gly15Val)
n.321G>T
7g.151064237G>ACA458644841SLC4A2c.87G>A (p.Gly29=)
c.52-368G>A (n.52-368G>A)
c.60G>A (p.Gly20=)
c.45G>A (p.Gly15=)
n.322G>A
 gnomAD v4
7g.151064237G>CCA458644842SLC4A2c.87G>C (p.Gly29=)
c.52-368G>C (n.52-368G>C)
c.60G>C (p.Gly20=)
c.45G>C (p.Gly15=)
n.322G>C
7g.151064237G>TCA458644843SLC4A2c.87G>T (p.Gly29=)
c.52-368G>T (n.52-368G>T)
c.60G>T (p.Gly20=)
c.45G>T (p.Gly15=)
n.322G>T
 dbSNP gnomAD v4
7g.151064238T>ACA370007780SLC4A2c.88T>A (p.Phe30Ile)
c.52-367T>A (n.52-367T>A)
c.61T>A (p.Phe21Ile)
c.46T>A (p.Phe16Ile)
n.323T>A
7g.151064238T>CCA370007782SLC4A2c.88T>C (p.Phe30Leu)
c.52-367T>C (n.52-367T>C)
c.61T>C (p.Phe21Leu)
c.46T>C (p.Phe16Leu)
n.323T>C
7g.151064238T>GCA370007781SLC4A2c.88T>G (p.Phe30Val)
c.52-367T>G (n.52-367T>G)
c.61T>G (p.Phe21Val)
c.46T>G (p.Phe16Val)
n.323T>G
7g.151064239T>ACA370007783SLC4A2c.89T>A (p.Phe30Tyr)
c.52-366T>A (n.52-366T>A)
c.62T>A (p.Phe21Tyr)
c.47T>A (p.Phe16Tyr)
n.324T>A
7g.151064239T>CCA370007784SLC4A2c.89T>C (p.Phe30Ser)
c.52-366T>C (n.52-366T>C)
c.62T>C (p.Phe21Ser)
c.47T>C (p.Phe16Ser)
n.324T>C
7g.151064239T>GCA370007785SLC4A2c.89T>G (p.Phe30Cys)
c.52-366T>G (n.52-366T>G)
c.62T>G (p.Phe21Cys)
c.47T>G (p.Phe16Cys)
n.324T>G
7g.151064240C>ACA370007786SLC4A2c.90C>A (p.Phe30Leu)
c.52-365C>A (n.52-365C>A)
c.63C>A (p.Phe21Leu)
c.48C>A (p.Phe16Leu)
n.325C>A
7g.151064240C>GCA370007787SLC4A2c.90C>G (p.Phe30Leu)
c.52-365C>G (n.52-365C>G)
c.63C>G (p.Phe21Leu)
c.48C>G (p.Phe16Leu)
n.325C>G
7g.151064240C>TCA458644846SLC4A2c.90C>T (p.Phe30=)
c.52-365C>T (n.52-365C>T)
c.63C>T (p.Phe21=)
c.48C>T (p.Phe16=)
n.325C>T
7g.151064241C>ACA370007788SLC4A2c.91C>A (p.Pro31Thr)
c.52-364C>A (n.52-364C>A)
c.64C>A (p.Pro22Thr)
c.49C>A (p.Pro17Thr)
n.326C>A
7g.151064241C>GCA370007789SLC4A2c.91C>G (p.Pro31Ala)
c.52-364C>G (n.52-364C>G)
c.64C>G (p.Pro22Ala)
c.49C>G (p.Pro17Ala)
n.326C>G
7g.151064241C>TCA370007790SLC4A2c.91C>T (p.Pro31Ser)
c.52-364C>T (n.52-364C>T)
c.64C>T (p.Pro22Ser)
c.49C>T (p.Pro17Ser)
n.326C>T
7g.151064242C>ACA370007791SLC4A2c.92C>A (p.Pro31His)
c.52-363C>A (n.52-363C>A)
c.65C>A (p.Pro22His)
c.50C>A (p.Pro17His)
n.327C>A
7g.151064242C>GCA370007792SLC4A2c.92C>G (p.Pro31Arg)
c.52-363C>G (n.52-363C>G)
c.65C>G (p.Pro22Arg)
c.50C>G (p.Pro17Arg)
n.327C>G
7g.151064242C>TCA370007793SLC4A2c.92C>T (p.Pro31Leu)
c.52-363C>T (n.52-363C>T)
c.65C>T (p.Pro22Leu)
c.50C>T (p.Pro17Leu)
n.327C>T
7g.151064243C>ACA458644850SLC4A2c.93C>A (p.Pro31=)
c.52-362C>A (n.52-362C>A)
c.66C>A (p.Pro22=)
c.51C>A (p.Pro17=)
n.328C>A
7g.151064243C=CA1752500308SLC4A2c.93C= (p.Pro31=)
c.52-362C= (n.52-362C=)
c.66C= (p.Pro22=)
c.51C= (p.Pro17=)
n.328C=
7g.151064243C>GCA169084064SLC4A2c.93C>G (p.Pro31=)
c.52-362C>G (n.52-362C>G)
c.66C>G (p.Pro22=)
c.51C>G (p.Pro17=)
n.328C>G
 dbSNP gnomAD v3 gnomAD v4
7g.151064243C>TCA4570726SLC4A2c.93C>T (p.Pro31=)
c.52-362C>T (n.52-362C>T)
c.66C>T (p.Pro22=)
c.51C>T (p.Pro17=)
n.328C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064244G>ACA216327SLC4A2c.94G>A (p.Glu32Lys)
c.52-361G>A (n.52-361G>A)
c.67G>A (p.Glu23Lys)
c.52G>A (p.Glu18Lys)
n.329G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064244G>CCA370007795SLC4A2c.94G>C (p.Glu32Gln)
c.52-361G>C (n.52-361G>C)
c.67G>C (p.Glu23Gln)
c.52G>C (p.Glu18Gln)
n.329G>C
7g.151064244G=CA1752500309SLC4A2c.94G= (p.Glu32=)
c.52-361G= (n.52-361G=)
c.67G= (p.Glu23=)
c.52G= (p.Glu18=)
n.329G=
7g.151064244G>TCA370007794SLC4A2c.94G>T (p.Glu32Ter)
c.52-361G>T (n.52-361G>T)
c.67G>T (p.Glu23Ter)
c.52G>T (p.Glu18Ter)
n.329G>T
7g.151064245A>CCA370007796SLC4A2c.95A>C (p.Glu32Ala)
c.52-360A>C (n.52-360A>C)
c.68A>C (p.Glu23Ala)
c.53A>C (p.Glu18Ala)
n.330A>C
7g.151064245A>GCA370007798SLC4A2c.95A>G (p.Glu32Gly)
c.52-360A>G (n.52-360A>G)
c.68A>G (p.Glu23Gly)
c.53A>G (p.Glu18Gly)
n.330A>G
7g.151064245A>TCA370007797SLC4A2c.95A>T (p.Glu32Val)
c.52-360A>T (n.52-360A>T)
c.68A>T (p.Glu23Val)
c.53A>T (p.Glu18Val)
n.330A>T
7g.151064246G>ACA458644857SLC4A2c.96G>A (p.Glu32=)
c.52-359G>A (n.52-359G>A)
c.69G>A (p.Glu23=)
c.54G>A (p.Glu18=)
n.331G>A
7g.151064246G>CCA370007799SLC4A2c.96G>C (p.Glu32Asp)
c.52-359G>C (n.52-359G>C)
c.69G>C (p.Glu23Asp)
c.54G>C (p.Glu18Asp)
n.331G>C
7g.151064246G>TCA370007800SLC4A2c.96G>T (p.Glu32Asp)
c.52-359G>T (n.52-359G>T)
c.69G>T (p.Glu23Asp)
c.54G>T (p.Glu18Asp)
n.331G>T
7g.151064247C>ACA4570727SLC4A2c.97C>A (p.Gln33Lys)
c.52-358C>A (n.52-358C>A)
c.70C>A (p.Gln24Lys)
c.55C>A (p.Gln19Lys)
n.332C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064247C=CA1752500310SLC4A2c.97C= (p.Gln33=)
c.52-358C= (n.52-358C=)
c.70C= (p.Gln24=)
c.55C= (p.Gln19=)
n.332C=
7g.151064247C>GCA370007801SLC4A2c.97C>G (p.Gln33Glu)
c.52-358C>G (n.52-358C>G)
c.70C>G (p.Gln24Glu)
c.55C>G (p.Gln19Glu)
n.332C>G
 gnomAD v4
7g.151064247C>TCA370007802SLC4A2c.97C>T (p.Gln33Ter)
c.52-358C>T (n.52-358C>T)
c.70C>T (p.Gln24Ter)
c.55C>T (p.Gln19Ter)
n.332C>T
 gnomAD v4
7g.151064248delCA2579064979SLC4A2c.98del (p.Gln33ArgfsTer?)
c.52-357del (n.52-357del)
c.71del (p.Gln24ArgfsTer?)
c.56del (p.Gln19ArgfsTer?)
n.333del
7g.151064248A=CA1752500311SLC4A2c.98A= (p.Gln33=)
c.52-357A= (n.52-357A=)
c.71A= (p.Gln24=)
c.56A= (p.Gln19=)
n.333A=
7g.151064248A>CCA370007803SLC4A2c.98A>C (p.Gln33Pro)
c.52-357A>C (n.52-357A>C)
c.71A>C (p.Gln24Pro)
c.56A>C (p.Gln19Pro)
n.333A>C
 dbSNP gnomAD v4
7g.151064248A>GCA4570728SLC4A2c.98A>G (p.Gln33Arg)
c.52-357A>G (n.52-357A>G)
c.71A>G (p.Gln24Arg)
c.56A>G (p.Gln19Arg)
n.333A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064248A>TCA370007804SLC4A2c.98A>T (p.Gln33Leu)
c.52-357A>T (n.52-357A>T)
c.71A>T (p.Gln24Leu)
c.56A>T (p.Gln19Leu)
n.333A>T
7g.151064249G>ACA458644860SLC4A2c.99G>A (p.Gln33=)
c.52-356G>A (n.52-356G>A)
c.72G>A (p.Gln24=)
c.57G>A (p.Gln19=)
n.334G>A
 dbSNP
7g.151064249G>CCA370007806SLC4A2c.99G>C (p.Gln33His)
c.52-356G>C (n.52-356G>C)
c.72G>C (p.Gln24His)
c.57G>C (p.Gln19His)
n.334G>C
7g.151064249G=CA1752500312SLC4A2c.99G= (p.Gln33=)
c.52-356G= (n.52-356G=)
c.72G= (p.Gln24=)
c.57G= (p.Gln19=)
n.334G=
7g.151064249G>TCA370007805SLC4A2c.99G>T (p.Gln33His)
c.52-356G>T (n.52-356G>T)
c.72G>T (p.Gln24His)
c.57G>T (p.Gln19His)
n.334G>T
 dbSNP
7g.151064250G>ACA370007807SLC4A2c.100G>A (p.Glu34Lys)
c.52-355G>A (n.52-355G>A)
c.73G>A (p.Glu25Lys)
c.58G>A (p.Glu20Lys)
n.335G>A
7g.151064250G>CCA370007808SLC4A2c.100G>C (p.Glu34Gln)
c.52-355G>C (n.52-355G>C)
c.73G>C (p.Glu25Gln)
c.58G>C (p.Glu20Gln)
n.335G>C
 dbSNP
7g.151064250G=CA1752500313SLC4A2c.100G= (p.Glu34=)
c.52-355G= (n.52-355G=)
c.73G= (p.Glu25=)
c.58G= (p.Glu20=)
n.335G=
7g.151064250G>TCA370007809SLC4A2c.100G>T (p.Glu34Ter)
c.52-355G>T (n.52-355G>T)
c.73G>T (p.Glu25Ter)
c.58G>T (p.Glu20Ter)
n.335G>T
 gnomAD v4
7g.151064251A=CA1752500314SLC4A2c.101A= (p.Glu34=)
c.52-354A= (n.52-354A=)
c.74A= (p.Glu25=)
c.59A= (p.Glu20=)
n.336A=
7g.151064251A>CCA370007810SLC4A2c.101A>C (p.Glu34Ala)
c.52-354A>C (n.52-354A>C)
c.74A>C (p.Glu25Ala)
c.59A>C (p.Glu20Ala)
n.336A>C
7g.151064251A>GCA4570729SLC4A2c.101A>G (p.Glu34Gly)
c.52-354A>G (n.52-354A>G)
c.74A>G (p.Glu25Gly)
c.59A>G (p.Glu20Gly)
n.336A>G
 dbSNP ExAC gnomAD v2
7g.151064251A>TCA370007811SLC4A2c.101A>T (p.Glu34Val)
c.52-354A>T (n.52-354A>T)
c.74A>T (p.Glu25Val)
c.59A>T (p.Glu20Val)
n.336A>T
7g.151064252G>ACA4570730SLC4A2c.102G>A (p.Glu34=)
c.52-353G>A (n.52-353G>A)
c.75G>A (p.Glu25=)
c.60G>A (p.Glu20=)
n.337G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064252G>CCA370007813SLC4A2c.102G>C (p.Glu34Asp)
c.52-353G>C (n.52-353G>C)
c.75G>C (p.Glu25Asp)
c.60G>C (p.Glu20Asp)
n.337G>C
7g.151064252G=CA1752500315SLC4A2c.102G= (p.Glu34=)
c.52-353G= (n.52-353G=)
c.75G= (p.Glu25=)
c.60G= (p.Glu20=)
n.337G=
7g.151064252G>TCA370007812SLC4A2c.102G>T (p.Glu34Asp)
c.52-353G>T (n.52-353G>T)
c.75G>T (p.Glu25Asp)
c.60G>T (p.Glu20Asp)
n.337G>T
7g.151064253G>ACA370007814SLC4A2c.103G>A (p.Glu35Lys)
c.52-352G>A (n.52-352G>A)
c.76G>A (p.Glu26Lys)
c.61G>A (p.Glu21Lys)
n.338G>A
7g.151064253G>CCA370007815SLC4A2c.103G>C (p.Glu35Gln)
c.52-352G>C (n.52-352G>C)
c.76G>C (p.Glu26Gln)
c.61G>C (p.Glu21Gln)
n.338G>C
7g.151064253G>TCA370007816SLC4A2c.103G>T (p.Glu35Ter)
c.52-352G>T (n.52-352G>T)
c.76G>T (p.Glu26Ter)
c.61G>T (p.Glu21Ter)
n.338G>T
7g.151064254A>CCA370007817SLC4A2c.104A>C (p.Glu35Ala)
c.52-351A>C (n.52-351A>C)
c.77A>C (p.Glu26Ala)
c.62A>C (p.Glu21Ala)
n.339A>C
7g.151064254A>GCA370007818SLC4A2c.104A>G (p.Glu35Gly)
c.52-351A>G (n.52-351A>G)
c.77A>G (p.Glu26Gly)
c.62A>G (p.Glu21Gly)
n.339A>G
7g.151064254A>TCA370007819SLC4A2c.104A>T (p.Glu35Val)
c.52-351A>T (n.52-351A>T)
c.77A>T (p.Glu26Val)
c.62A>T (p.Glu21Val)
n.339A>T
7g.151064255A>CCA370007820SLC4A2c.105A>C (p.Glu35Asp)
c.52-350A>C (n.52-350A>C)
c.78A>C (p.Glu26Asp)
c.63A>C (p.Glu21Asp)
n.340A>C
7g.151064255A>GCA458644869SLC4A2c.105A>G (p.Glu35=)
c.52-350A>G (n.52-350A>G)
c.78A>G (p.Glu26=)
c.63A>G (p.Glu21=)
n.340A>G
7g.151064255A>TCA370007821SLC4A2c.105A>T (p.Glu35Asp)
c.52-350A>T (n.52-350A>T)
c.78A>T (p.Glu26Asp)
c.63A>T (p.Glu21Asp)
n.340A>T
7g.151064256G>ACA370007822SLC4A2c.106G>A (p.Asp36Asn)
c.52-349G>A (n.52-349G>A)
c.79G>A (p.Asp27Asn)
c.64G>A (p.Asp22Asn)
n.341G>A
 dbSNP
7g.151064256G>CCA370007823SLC4A2c.106G>C (p.Asp36His)
c.52-349G>C (n.52-349G>C)
c.79G>C (p.Asp27His)
c.64G>C (p.Asp22His)
n.341G>C
7g.151064256G=CA1752500316SLC4A2c.106G= (p.Asp36=)
c.52-349G= (n.52-349G=)
c.79G= (p.Asp27=)
c.64G= (p.Asp22=)
n.341G=
7g.151064256G>TCA370007824SLC4A2c.106G>T (p.Asp36Tyr)
c.52-349G>T (n.52-349G>T)
c.79G>T (p.Asp27Tyr)
c.64G>T (p.Asp22Tyr)
n.341G>T
7g.151064257A=CA1752500317SLC4A2c.107A= (p.Asp36=)
c.52-348A= (n.52-348A=)
c.80A= (p.Asp27=)
c.65A= (p.Asp22=)
n.342A=
7g.151064257A>CCA370007825SLC4A2c.107A>C (p.Asp36Ala)
c.52-348A>C (n.52-348A>C)
c.80A>C (p.Asp27Ala)
c.65A>C (p.Asp22Ala)
n.342A>C
7g.151064257A>GCA370007827SLC4A2c.107A>G (p.Asp36Gly)
c.52-348A>G (n.52-348A>G)
c.80A>G (p.Asp27Gly)
c.65A>G (p.Asp22Gly)
n.342A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151064257A>TCA370007826SLC4A2c.107A>T (p.Asp36Val)
c.52-348A>T (n.52-348A>T)
c.80A>T (p.Asp27Val)
c.65A>T (p.Asp22Val)
n.342A>T
7g.151064258C>ACA370007828SLC4A2c.108C>A (p.Asp36Glu)
c.52-347C>A (n.52-347C>A)
c.81C>A (p.Asp27Glu)
c.66C>A (p.Asp22Glu)
n.343C>A
7g.151064258C=CA1752500318SLC4A2c.108C= (p.Asp36=)
c.52-347C= (n.52-347C=)
c.81C= (p.Asp27=)
c.66C= (p.Asp22=)
n.343C=
7g.151064258C>GCA370007829SLC4A2c.108C>G (p.Asp36Glu)
c.52-347C>G (n.52-347C>G)
c.81C>G (p.Asp27Glu)
c.66C>G (p.Asp22Glu)
n.343C>G
 gnomAD v4
7g.151064258C>TCA4570731SLC4A2c.108C>T (p.Asp36=)
c.52-347C>T (n.52-347C>T)
c.81C>T (p.Asp27=)
c.66C>T (p.Asp22=)
n.343C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064259G>ACA370007830SLC4A2c.109G>A (p.Glu37Lys)
c.52-346G>A (n.52-346G>A)
c.82G>A (p.Glu28Lys)
c.67G>A (p.Glu23Lys)
n.344G>A
 gnomAD v4
7g.151064259G>CCA370007831SLC4A2c.109G>C (p.Glu37Gln)
c.52-346G>C (n.52-346G>C)
c.82G>C (p.Glu28Gln)
c.67G>C (p.Glu23Gln)
n.344G>C
7g.151064259G>TCA370007832SLC4A2c.109G>T (p.Glu37Ter)
c.52-346G>T (n.52-346G>T)
c.82G>T (p.Glu28Ter)
c.67G>T (p.Glu23Ter)
n.344G>T
7g.151064260A=CA1752500319SLC4A2c.110A= (p.Glu37=)
c.52-345A= (n.52-345A=)
c.83A= (p.Glu28=)
c.68A= (p.Glu23=)
n.345A=
7g.151064260A>CCA370007833SLC4A2c.110A>C (p.Glu37Ala)
c.52-345A>C (n.52-345A>C)
c.83A>C (p.Glu28Ala)
c.68A>C (p.Glu23Ala)
n.345A>C
7g.151064260A>GCA370007834SLC4A2c.110A>G (p.Glu37Gly)
c.52-345A>G (n.52-345A>G)
c.83A>G (p.Glu28Gly)
c.68A>G (p.Glu23Gly)
n.345A>G
 dbSNP gnomAD v4
7g.151064260A>TCA370007835SLC4A2c.110A>T (p.Glu37Val)
c.52-345A>T (n.52-345A>T)
c.83A>T (p.Glu28Val)
c.68A>T (p.Glu23Val)
n.345A>T
7g.151064261A>CCA370007836SLC4A2c.111A>C (p.Glu37Asp)
c.52-344A>C (n.52-344A>C)
c.84A>C (p.Glu28Asp)
c.69A>C (p.Glu23Asp)
n.346A>C
7g.151064261A>GCA458644875SLC4A2c.111A>G (p.Glu37=)
c.52-344A>G (n.52-344A>G)
c.84A>G (p.Glu28=)
c.69A>G (p.Glu23=)
n.346A>G
7g.151064261A>TCA370007837SLC4A2c.111A>T (p.Glu37Asp)
c.52-344A>T (n.52-344A>T)
c.84A>T (p.Glu28Asp)
c.69A>T (p.Glu23Asp)
n.346A>T
7g.151064262C>ACA370007840SLC4A2c.112C>A (p.Leu38Ile)
c.52-343C>A (n.52-343C>A)
c.85C>A (p.Leu29Ile)
c.70C>A (p.Leu24Ile)
n.347C>A
 COSMIC
7g.151064262C=CA1752500320SLC4A2c.112C= (p.Leu38=)
c.52-343C= (n.52-343C=)
c.85C= (p.Leu29=)
c.70C= (p.Leu24=)
n.347C=
7g.151064262C>GCA370007838SLC4A2c.112C>G (p.Leu38Val)
c.52-343C>G (n.52-343C>G)
c.85C>G (p.Leu29Val)
c.70C>G (p.Leu24Val)
n.347C>G
7g.151064262C>TCA370007839SLC4A2c.112C>T (p.Leu38Phe)
c.52-343C>T (n.52-343C>T)
c.85C>T (p.Leu29Phe)
c.70C>T (p.Leu24Phe)
n.347C>T
 dbSNP
7g.151064263T>ACA370007841SLC4A2c.113T>A (p.Leu38His)
c.52-342T>A (n.52-342T>A)
c.86T>A (p.Leu29His)
c.71T>A (p.Leu24His)
n.348T>A
7g.151064263T>CCA370007842SLC4A2c.113T>C (p.Leu38Pro)
c.52-342T>C (n.52-342T>C)
c.86T>C (p.Leu29Pro)
c.71T>C (p.Leu24Pro)
n.348T>C
7g.151064263T>GCA370007843SLC4A2c.113T>G (p.Leu38Arg)
c.52-342T>G (n.52-342T>G)
c.86T>G (p.Leu29Arg)
c.71T>G (p.Leu24Arg)
n.348T>G
7g.151064264T>ACA458644876SLC4A2c.114T>A (p.Leu38=)
c.52-341T>A (n.52-341T>A)
c.87T>A (p.Leu29=)
c.72T>A (p.Leu24=)
n.349T>A
7g.151064264T>CCA458644877SLC4A2c.114T>C (p.Leu38=)
c.52-341T>C (n.52-341T>C)
c.87T>C (p.Leu29=)
c.72T>C (p.Leu24=)
n.349T>C
7g.151064264T>GCA458644878SLC4A2c.114T>G (p.Leu38=)
c.52-341T>G (n.52-341T>G)
c.87T>G (p.Leu29=)
c.72T>G (p.Leu24=)
n.349T>G
 dbSNP
7g.151064264T=CA1752500321SLC4A2c.114T= (p.Leu38=)
c.52-341T= (n.52-341T=)
c.87T= (p.Leu29=)
c.72T= (p.Leu24=)
n.349T=
7g.151064265C>ACA370007844SLC4A2c.115C>A (p.His39Asn)
c.52-340C>A (n.52-340C>A)
c.88C>A (p.His30Asn)
c.73C>A (p.His25Asn)
n.350C>A
7g.151064265C>GCA370007845SLC4A2c.115C>G (p.His39Asp)
c.52-340C>G (n.52-340C>G)
c.88C>G (p.His30Asp)
c.73C>G (p.His25Asp)
n.350C>G
7g.151064265C>TCA370007846SLC4A2c.115C>T (p.His39Tyr)
c.52-340C>T (n.52-340C>T)
c.88C>T (p.His30Tyr)
c.73C>T (p.His25Tyr)
n.350C>T
 gnomAD v4
7g.151064266A>CCA370007847SLC4A2c.116A>C (p.His39Pro)
c.52-339A>C (n.52-339A>C)
c.89A>C (p.His30Pro)
c.74A>C (p.His25Pro)
n.351A>C
7g.151064266A>GCA370007848SLC4A2c.116A>G (p.His39Arg)
c.52-339A>G (n.52-339A>G)
c.89A>G (p.His30Arg)
c.74A>G (p.His25Arg)
n.351A>G
7g.151064266A>TCA370007849SLC4A2c.116A>T (p.His39Leu)
c.52-339A>T (n.52-339A>T)
c.89A>T (p.His30Leu)
c.74A>T (p.His25Leu)
n.351A>T
7g.151064267C>ACA370007850SLC4A2c.117C>A (p.His39Gln)
c.52-338C>A (n.52-338C>A)
c.90C>A (p.His30Gln)
c.75C>A (p.His25Gln)
n.352C>A
 dbSNP gnomAD v2 gnomAD v4
7g.151064267C=CA1752500322SLC4A2c.117C= (p.His39=)
c.52-338C= (n.52-338C=)
c.90C= (p.His30=)
c.75C= (p.His25=)
n.352C=
7g.151064267C>GCA370007851SLC4A2c.117C>G (p.His39Gln)
c.52-338C>G (n.52-338C>G)
c.90C>G (p.His30Gln)
c.75C>G (p.His25Gln)
n.352C>G
 gnomAD v4
7g.151064267C>TCA458644884SLC4A2c.117C>T (p.His39=)
c.52-338C>T (n.52-338C>T)
c.90C>T (p.His30=)
c.75C>T (p.His25=)
n.352C>T
7g.151064268C>ACA370007852SLC4A2c.118C>A (p.Arg40Ser)
c.52-337C>A (n.52-337C>A)
c.91C>A (p.Arg31Ser)
c.76C>A (p.Arg26Ser)
n.353C>A
 gnomAD v4
7g.151064268C=CA1752500323SLC4A2c.118C= (p.Arg40=)
c.52-337C= (n.52-337C=)
c.91C= (p.Arg31=)
c.76C= (p.Arg26=)
n.353C=
7g.151064268C>GCA370007853SLC4A2c.118C>G (p.Arg40Gly)
c.52-337C>G (n.52-337C>G)
c.91C>G (p.Arg31Gly)
c.76C>G (p.Arg26Gly)
n.353C>G
7g.151064268C>TCA4570732SLC4A2c.118C>T (p.Arg40Cys)
c.52-337C>T (n.52-337C>T)
c.91C>T (p.Arg31Cys)
c.76C>T (p.Arg26Cys)
n.353C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064269G>ACA4570733SLC4A2c.119G>A (p.Arg40His)
c.52-336G>A (n.52-336G>A)
c.92G>A (p.Arg31His)
c.77G>A (p.Arg26His)
n.354G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064269G>CCA370007854SLC4A2c.119G>C (p.Arg40Pro)
c.52-336G>C (n.52-336G>C)
c.92G>C (p.Arg31Pro)
c.77G>C (p.Arg26Pro)
n.354G>C
7g.151064269G=CA1752500324SLC4A2c.119G= (p.Arg40=)
c.52-336G= (n.52-336G=)
c.92G= (p.Arg31=)
c.77G= (p.Arg26=)
n.354G=
7g.151064269G>TCA370007855SLC4A2c.119G>T (p.Arg40Leu)
c.52-336G>T (n.52-336G>T)
c.92G>T (p.Arg31Leu)
c.77G>T (p.Arg26Leu)
n.354G>T
 dbSNP
7g.151064270C>ACA458644888SLC4A2c.120C>A (p.Arg40=)
c.52-335C>A (n.52-335C>A)
c.93C>A (p.Arg31=)
c.78C>A (p.Arg26=)
n.355C>A
7g.151064270C=CA1752500325SLC4A2c.120C= (p.Arg40=)
c.52-335C= (n.52-335C=)
c.93C= (p.Arg31=)
c.78C= (p.Arg26=)
n.355C=
7g.151064270C>GCA458644890SLC4A2c.120C>G (p.Arg40=)
c.52-335C>G (n.52-335C>G)
c.93C>G (p.Arg31=)
c.78C>G (p.Arg26=)
n.355C>G
7g.151064270C>TCA4570734SLC4A2c.120C>T (p.Arg40=)
c.52-335C>T (n.52-335C>T)
c.93C>T (p.Arg31=)
c.78C>T (p.Arg26=)
n.355C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064271A>CCA370007856SLC4A2c.121A>C (p.Thr41Pro)
c.52-334A>C (n.52-334A>C)
c.94A>C (p.Thr32Pro)
c.79A>C (p.Thr27Pro)
n.356A>C
7g.151064271A>GCA370007857SLC4A2c.121A>G (p.Thr41Ala)
c.52-334A>G (n.52-334A>G)
c.94A>G (p.Thr32Ala)
c.79A>G (p.Thr27Ala)
n.356A>G
 gnomAD v4
7g.151064271A>TCA370007858SLC4A2c.121A>T (p.Thr41Ser)
c.52-334A>T (n.52-334A>T)
c.94A>T (p.Thr32Ser)
c.79A>T (p.Thr27Ser)
n.356A>T
7g.151064272C>ACA370007859SLC4A2c.122C>A (p.Thr41Asn)
c.52-333C>A (n.52-333C>A)
c.95C>A (p.Thr32Asn)
c.80C>A (p.Thr27Asn)
n.357C>A
 dbSNP gnomAD v3 gnomAD v4
7g.151064272C=CA1752500326SLC4A2c.122C= (p.Thr41=)
c.52-333C= (n.52-333C=)
c.95C= (p.Thr32=)
c.80C= (p.Thr27=)
n.357C=
7g.151064272C>GCA370007860SLC4A2c.122C>G (p.Thr41Ser)
c.52-333C>G (n.52-333C>G)
c.95C>G (p.Thr32Ser)
c.80C>G (p.Thr27Ser)
n.357C>G
7g.151064272C>TCA370007861SLC4A2c.122C>T (p.Thr41Ile)
c.52-333C>T (n.52-333C>T)
c.95C>T (p.Thr32Ile)
c.80C>T (p.Thr27Ile)
n.357C>T
 dbSNP gnomAD v3 gnomAD v4
7g.151064273C>ACA458644893SLC4A2c.123C>A (p.Thr41=)
c.52-332C>A (n.52-332C>A)
c.96C>A (p.Thr32=)
c.81C>A (p.Thr27=)
n.358C>A
7g.151064273C>GCA458644894SLC4A2c.123C>G (p.Thr41=)
c.52-332C>G (n.52-332C>G)
c.96C>G (p.Thr32=)
c.81C>G (p.Thr27=)
n.358C>G
7g.151064273C>TCA458644895SLC4A2c.123C>T (p.Thr41=)
c.52-332C>T (n.52-332C>T)
c.96C>T (p.Thr32=)
c.81C>T (p.Thr27=)
n.358C>T
7g.151064274C>ACA370007862SLC4A2c.124C>A (p.Leu42Met)
c.52-331C>A (n.52-331C>A)
c.97C>A (p.Leu33Met)
c.82C>A (p.Leu28Met)
n.359C>A
7g.151064274C=CA1752500327SLC4A2c.124C= (p.Leu42=)
c.52-331C= (n.52-331C=)
c.97C= (p.Leu33=)
c.82C= (p.Leu28=)
n.359C=
7g.151064274C>GCA370007863SLC4A2c.124C>G (p.Leu42Val)
c.52-331C>G (n.52-331C>G)
c.97C>G (p.Leu33Val)
c.82C>G (p.Leu28Val)
n.359C>G
7g.151064274C>TCA458644896SLC4A2c.124C>T (p.Leu42=)
c.52-331C>T (n.52-331C>T)
c.97C>T (p.Leu33=)
c.82C>T (p.Leu28=)
n.359C>T
 dbSNP gnomAD v4
7g.151064275T>ACA370007866SLC4A2c.125T>A (p.Leu42Gln)
c.52-330T>A (n.52-330T>A)
c.98T>A (p.Leu33Gln)
c.83T>A (p.Leu28Gln)
n.360T>A
7g.151064275T>CCA370007865SLC4A2c.125T>C (p.Leu42Pro)
c.52-330T>C (n.52-330T>C)
c.98T>C (p.Leu33Pro)
c.83T>C (p.Leu28Pro)
n.360T>C
7g.151064275T>GCA370007864SLC4A2c.125T>G (p.Leu42Arg)
c.52-330T>G (n.52-330T>G)
c.98T>G (p.Leu33Arg)
c.83T>G (p.Leu28Arg)
n.360T>G
7g.151064276G>ACA458644898SLC4A2c.126G>A (p.Leu42=)
c.52-329G>A (n.52-329G>A)
c.99G>A (p.Leu33=)
c.84G>A (p.Leu28=)
n.361G>A
 gnomAD v4
7g.151064276G>CCA458644900SLC4A2c.126G>C (p.Leu42=)
c.52-329G>C (n.52-329G>C)
c.99G>C (p.Leu33=)
c.84G>C (p.Leu28=)
n.361G>C
7g.151064276G>TCA458644902SLC4A2c.126G>T (p.Leu42=)
c.52-329G>T (n.52-329G>T)
c.99G>T (p.Leu33=)
c.84G>T (p.Leu28=)
n.361G>T
7g.151064277G>ACA370007867SLC4A2c.127G>A (p.Gly43Ser)
c.52-328G>A (n.52-328G>A)
c.100G>A (p.Gly34Ser)
c.85G>A (p.Gly29Ser)
n.362G>A
7g.151064277G>CCA370007868SLC4A2c.127G>C (p.Gly43Arg)
c.52-328G>C (n.52-328G>C)
c.100G>C (p.Gly34Arg)
c.85G>C (p.Gly29Arg)
n.362G>C
7g.151064277G>TCA370007869SLC4A2c.127G>T (p.Gly43Cys)
c.52-328G>T (n.52-328G>T)
c.100G>T (p.Gly34Cys)
c.85G>T (p.Gly29Cys)
n.362G>T
7g.151064278G>ACA370007870SLC4A2c.128G>A (p.Gly43Asp)
c.52-327G>A (n.52-327G>A)
c.101G>A (p.Gly34Asp)
c.86G>A (p.Gly29Asp)
n.363G>A
 gnomAD v4
7g.151064278G>CCA370007871SLC4A2c.128G>C (p.Gly43Ala)
c.52-327G>C (n.52-327G>C)
c.101G>C (p.Gly34Ala)
c.86G>C (p.Gly29Ala)
n.363G>C
7g.151064278G>TCA370007872SLC4A2c.128G>T (p.Gly43Val)
c.52-327G>T (n.52-327G>T)
c.101G>T (p.Gly34Val)
c.86G>T (p.Gly29Val)
n.363G>T
7g.151064279C>ACA458644908SLC4A2c.129C>A (p.Gly43=)
c.52-326C>A (n.52-326C>A)
c.102C>A (p.Gly34=)
c.87C>A (p.Gly29=)
n.364C>A
 gnomAD v4
7g.151064279C=CA1752500328SLC4A2c.129C= (p.Gly43=)
c.52-326C= (n.52-326C=)
c.102C= (p.Gly34=)
c.87C= (p.Gly29=)
n.364C=
7g.151064279C>GCA458644910SLC4A2c.129C>G (p.Gly43=)
c.52-326C>G (n.52-326C>G)
c.102C>G (p.Gly34=)
c.87C>G (p.Gly29=)
n.364C>G
7g.151064279C>TCA458644909SLC4A2c.129C>T (p.Gly43=)
c.52-326C>T (n.52-326C>T)
c.102C>T (p.Gly34=)
c.87C>T (p.Gly29=)
n.364C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151064280G>ACA4570735SLC4A2c.130G>A (p.Val44Met)
c.52-325G>A (n.52-325G>A)
c.103G>A (p.Val35Met)
c.88G>A (p.Val30Met)
n.365G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064280G>CCA370007873SLC4A2c.130G>C (p.Val44Leu)
c.52-325G>C (n.52-325G>C)
c.103G>C (p.Val35Leu)
c.88G>C (p.Val30Leu)
n.365G>C
7g.151064280G=CA1752500329SLC4A2c.130G= (p.Val44=)
c.52-325G= (n.52-325G=)
c.103G= (p.Val35=)
c.88G= (p.Val30=)
n.365G=
7g.151064280G>TCA370007874SLC4A2c.130G>T (p.Val44Leu)
c.52-325G>T (n.52-325G>T)
c.103G>T (p.Val35Leu)
c.88G>T (p.Val30Leu)
n.365G>T
7g.151064281T>ACA370007875SLC4A2c.131T>A (p.Val44Glu)
c.52-324T>A (n.52-324T>A)
c.104T>A (p.Val35Glu)
c.89T>A (p.Val30Glu)
n.366T>A
7g.151064281T>CCA370007876SLC4A2c.131T>C (p.Val44Ala)
c.52-324T>C (n.52-324T>C)
c.104T>C (p.Val35Ala)
c.89T>C (p.Val30Ala)
n.366T>C
7g.151064281T>GCA370007877SLC4A2c.131T>G (p.Val44Gly)
c.52-324T>G (n.52-324T>G)
c.104T>G (p.Val35Gly)
c.89T>G (p.Val30Gly)
n.366T>G
7g.151064282G>ACA458644917SLC4A2c.132G>A (p.Val44=)
c.52-323G>A (n.52-323G>A)
c.105G>A (p.Val35=)
c.90G>A (p.Val30=)
n.367G>A
7g.151064282G>CCA458644916SLC4A2c.132G>C (p.Val44=)
c.52-323G>C (n.52-323G>C)
c.105G>C (p.Val35=)
c.90G>C (p.Val30=)
n.367G>C
7g.151064282G>TCA458644914SLC4A2c.132G>T (p.Val44=)
c.52-323G>T (n.52-323G>T)
c.105G>T (p.Val35=)
c.90G>T (p.Val30=)
n.367G>T
7g.151064283G>ACA4570736SLC4A2c.133G>A (p.Glu45Lys)
c.52-322G>A (n.52-322G>A)
c.106G>A (p.Glu36Lys)
c.91G>A (p.Glu31Lys)
n.368G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064283G>CCA370007879SLC4A2c.133G>C (p.Glu45Gln)
c.52-322G>C (n.52-322G>C)
c.106G>C (p.Glu36Gln)
c.91G>C (p.Glu31Gln)
n.368G>C
7g.151064283G=CA1752500330SLC4A2c.133G= (p.Glu45=)
c.52-322G= (n.52-322G=)
c.106G= (p.Glu36=)
c.91G= (p.Glu31=)
n.368G=
7g.151064283G>TCA370007878SLC4A2c.133G>T (p.Glu45Ter)
c.52-322G>T (n.52-322G>T)
c.106G>T (p.Glu36Ter)
c.91G>T (p.Glu31Ter)
n.368G>T
7g.151064284A>CCA370007880SLC4A2c.134A>C (p.Glu45Ala)
c.52-321A>C (n.52-321A>C)
c.107A>C (p.Glu36Ala)
c.92A>C (p.Glu31Ala)
n.369A>C
7g.151064284A>GCA370007881SLC4A2c.134A>G (p.Glu45Gly)
c.52-321A>G (n.52-321A>G)
c.107A>G (p.Glu36Gly)
c.92A>G (p.Glu31Gly)
n.369A>G
7g.151064284A>TCA370007882SLC4A2c.134A>T (p.Glu45Val)
c.52-321A>T (n.52-321A>T)
c.107A>T (p.Glu36Val)
c.92A>T (p.Glu31Val)
n.369A>T
7g.151064285G>ACA458644919SLC4A2c.135G>A (p.Glu45=)
c.52-320G>A (n.52-320G>A)
c.108G>A (p.Glu36=)
c.93G>A (p.Glu31=)
n.370G>A
7g.151064285G>CCA370007883SLC4A2c.135G>C (p.Glu45Asp)
c.52-320G>C (n.52-320G>C)
c.108G>C (p.Glu36Asp)
c.93G>C (p.Glu31Asp)
n.370G>C
7g.151064285G>TCA370007884SLC4A2c.135G>T (p.Glu45Asp)
c.52-320G>T (n.52-320G>T)
c.108G>T (p.Glu36Asp)
c.93G>T (p.Glu31Asp)
n.370G>T
7g.151064286C>ACA458644921SLC4A2c.136C>A (p.Arg46=)
c.52-319C>A (n.52-319C>A)
c.109C>A (p.Arg37=)
c.94C>A (p.Arg32=)
n.371C>A
7g.151064286C=CA1752500331SLC4A2c.136C= (p.Arg46=)
c.52-319C= (n.52-319C=)
c.109C= (p.Arg37=)
c.94C= (p.Arg32=)
n.371C=
7g.151064286C>GCA370007885SLC4A2c.136C>G (p.Arg46Gly)
c.52-319C>G (n.52-319C>G)
c.109C>G (p.Arg37Gly)
c.94C>G (p.Arg32Gly)
n.371C>G
7g.151064286C>TCA370007886SLC4A2c.136C>T (p.Arg46Trp)
c.52-319C>T (n.52-319C>T)
c.109C>T (p.Arg37Trp)
c.94C>T (p.Arg32Trp)
n.371C>T
 dbSNP gnomAD v3 gnomAD v4
7g.151064287G>ACA370007887SLC4A2c.137G>A (p.Arg46Gln)
c.52-318G>A (n.52-318G>A)
c.110G>A (p.Arg37Gln)
c.95G>A (p.Arg32Gln)
n.372G>A
 dbSNP gnomAD v4
7g.151064287G>CCA370007888SLC4A2c.137G>C (p.Arg46Pro)
c.52-318G>C (n.52-318G>C)
c.110G>C (p.Arg37Pro)
c.95G>C (p.Arg32Pro)
n.372G>C
7g.151064287G=CA1752500332SLC4A2c.137G= (p.Arg46=)
c.52-318G= (n.52-318G=)
c.110G= (p.Arg37=)
c.95G= (p.Arg32=)
n.372G=
7g.151064287G>TCA370007889SLC4A2c.137G>T (p.Arg46Leu)
c.52-318G>T (n.52-318G>T)
c.110G>T (p.Arg37Leu)
c.95G>T (p.Arg32Leu)
n.372G>T
7g.151064288G>ACA458644922SLC4A2c.138G>A (p.Arg46=)
c.52-317G>A (n.52-317G>A)
c.111G>A (p.Arg37=)
c.96G>A (p.Arg32=)
n.373G>A
7g.151064288G>CCA458644924SLC4A2c.138G>C (p.Arg46=)
c.52-317G>C (n.52-317G>C)
c.111G>C (p.Arg37=)
c.96G>C (p.Arg32=)
n.373G>C
7g.151064288G>TCA458644925SLC4A2c.138G>T (p.Arg46=)
c.52-317G>T (n.52-317G>T)
c.111G>T (p.Arg37=)
c.96G>T (p.Arg32=)
n.373G>T
7g.151064289T>ACA370007890SLC4A2c.139T>A (p.Phe47Ile)
c.52-316T>A (n.52-316T>A)
c.112T>A (p.Phe38Ile)
c.97T>A (p.Phe33Ile)
n.374T>A
7g.151064289T>CCA370007891SLC4A2c.139T>C (p.Phe47Leu)
c.52-316T>C (n.52-316T>C)
c.112T>C (p.Phe38Leu)
c.97T>C (p.Phe33Leu)
n.374T>C
7g.151064289T>GCA370007892SLC4A2c.139T>G (p.Phe47Val)
c.52-316T>G (n.52-316T>G)
c.112T>G (p.Phe38Val)
c.97T>G (p.Phe33Val)
n.374T>G
7g.151064290T>ACA370007895SLC4A2c.140T>A (p.Phe47Tyr)
c.52-315T>A (n.52-315T>A)
c.113T>A (p.Phe38Tyr)
c.98T>A (p.Phe33Tyr)
n.375T>A
7g.151064290T>CCA370007894SLC4A2c.140T>C (p.Phe47Ser)
c.52-315T>C (n.52-315T>C)
c.113T>C (p.Phe38Ser)
c.98T>C (p.Phe33Ser)
n.375T>C
7g.151064290T>GCA370007893SLC4A2c.140T>G (p.Phe47Cys)
c.52-315T>G (n.52-315T>G)
c.113T>G (p.Phe38Cys)
c.98T>G (p.Phe33Cys)
n.375T>G
7g.151064291T>ACA370007896SLC4A2c.141T>A (p.Phe47Leu)
c.52-314T>A (n.52-314T>A)
c.114T>A (p.Phe38Leu)
c.99T>A (p.Phe33Leu)
n.376T>A
7g.151064291T>CCA458644928SLC4A2c.141T>C (p.Phe47=)
c.52-314T>C (n.52-314T>C)
c.114T>C (p.Phe38=)
c.99T>C (p.Phe33=)
n.376T>C
7g.151064291T>GCA370007897SLC4A2c.141T>G (p.Phe47Leu)
c.52-314T>G (n.52-314T>G)
c.114T>G (p.Phe38Leu)
c.99T>G (p.Phe33Leu)
n.376T>G
7g.151064292G>ACA370007898SLC4A2c.142G>A (p.Glu48Lys)
c.52-313G>A (n.52-313G>A)
c.115G>A (p.Glu39Lys)
c.100G>A (p.Glu34Lys)
n.377G>A
7g.151064292G>CCA370007899SLC4A2c.142G>C (p.Glu48Gln)
c.52-313G>C (n.52-313G>C)
c.115G>C (p.Glu39Gln)
c.100G>C (p.Glu34Gln)
n.377G>C
 gnomAD v4
7g.151064292G>TCA370007900SLC4A2c.142G>T (p.Glu48Ter)
c.52-313G>T (n.52-313G>T)
c.115G>T (p.Glu39Ter)
c.100G>T (p.Glu34Ter)
n.377G>T
7g.151064293A>CCA370007901SLC4A2c.143A>C (p.Glu48Ala)
c.52-312A>C (n.52-312A>C)
c.116A>C (p.Glu39Ala)
c.101A>C (p.Glu34Ala)
n.378A>C
7g.151064293A>GCA370007902SLC4A2c.143A>G (p.Glu48Gly)
c.52-312A>G (n.52-312A>G)
c.116A>G (p.Glu39Gly)
c.101A>G (p.Glu34Gly)
n.378A>G
7g.151064293A>TCA370007903SLC4A2c.143A>T (p.Glu48Val)
c.52-312A>T (n.52-312A>T)
c.116A>T (p.Glu39Val)
c.101A>T (p.Glu34Val)
n.378A>T
7g.151064294G>ACA458644934SLC4A2c.144G>A (p.Glu48=)
c.52-311G>A (n.52-311G>A)
c.117G>A (p.Glu39=)
c.102G>A (p.Glu34=)
n.379G>A
7g.151064294G>CCA370007904SLC4A2c.144G>C (p.Glu48Asp)
c.52-311G>C (n.52-311G>C)
c.117G>C (p.Glu39Asp)
c.102G>C (p.Glu34Asp)
n.379G>C
7g.151064294G>TCA370007905SLC4A2c.144G>T (p.Glu48Asp)
c.52-311G>T (n.52-311G>T)
c.117G>T (p.Glu39Asp)
c.102G>T (p.Glu34Asp)
n.379G>T
7g.151064295G>ACA370007906SLC4A2c.145G>A (p.Glu49Lys)
c.52-310G>A (n.52-310G>A)
c.118G>A (p.Glu40Lys)
c.103G>A (p.Glu35Lys)
n.380G>A
 dbSNP gnomAD v3 gnomAD v4
7g.151064295G>CCA370007907SLC4A2c.145G>C (p.Glu49Gln)
c.52-310G>C (n.52-310G>C)
c.118G>C (p.Glu40Gln)
c.103G>C (p.Glu35Gln)
n.380G>C
7g.151064295G=CA1752500333SLC4A2c.145G= (p.Glu49=)
c.52-310G= (n.52-310G=)
c.118G= (p.Glu40=)
c.103G= (p.Glu35=)
n.380G=
7g.151064295G>TCA370007908SLC4A2c.145G>T (p.Glu49Ter)
c.52-310G>T (n.52-310G>T)
c.118G>T (p.Glu40Ter)
c.103G>T (p.Glu35Ter)
n.380G>T
7g.151064296A=CA1752500334SLC4A2c.146A= (p.Glu49=)
c.52-309A= (n.52-309A=)
c.119A= (p.Glu40=)
c.104A= (p.Glu35=)
n.381A=
7g.151064296A>CCA370007910SLC4A2c.146A>C (p.Glu49Ala)
c.52-309A>C (n.52-309A>C)
c.119A>C (p.Glu40Ala)
c.104A>C (p.Glu35Ala)
n.381A>C
7g.151064296A>GCA4570737SLC4A2c.146A>G (p.Glu49Gly)
c.52-309A>G (n.52-309A>G)
c.119A>G (p.Glu40Gly)
c.104A>G (p.Glu35Gly)
n.381A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064296A>TCA370007909SLC4A2c.146A>T (p.Glu49Val)
c.52-309A>T (n.52-309A>T)
c.119A>T (p.Glu40Val)
c.104A>T (p.Glu35Val)
n.381A>T
7g.151064297G>ACA458644938SLC4A2c.147G>A (p.Glu49=)
c.52-308G>A (n.52-308G>A)
c.120G>A (p.Glu40=)
c.105G>A (p.Glu35=)
n.382G>A
7g.151064297G>CCA370007912SLC4A2c.147G>C (p.Glu49Asp)
c.52-308G>C (n.52-308G>C)
c.120G>C (p.Glu40Asp)
c.105G>C (p.Glu35Asp)
n.382G>C
7g.151064297G>TCA370007911SLC4A2c.147G>T (p.Glu49Asp)
c.52-308G>T (n.52-308G>T)
c.120G>T (p.Glu40Asp)
c.105G>T (p.Glu35Asp)
n.382G>T
7g.151064298A>CCA370007915SLC4A2c.148A>C (p.Ile50Leu)
c.52-307A>C (n.52-307A>C)
c.121A>C (p.Ile41Leu)
c.106A>C (p.Ile36Leu)
n.383A>C
7g.151064298A>GCA370007913SLC4A2c.148A>G (p.Ile50Val)
c.52-307A>G (n.52-307A>G)
c.121A>G (p.Ile41Val)
c.106A>G (p.Ile36Val)
n.383A>G
7g.151064298A>TCA370007914SLC4A2c.148A>T (p.Ile50Phe)
c.52-307A>T (n.52-307A>T)
c.121A>T (p.Ile41Phe)
c.106A>T (p.Ile36Phe)
n.383A>T
7g.151064299T>ACA370007916SLC4A2c.149T>A (p.Ile50Asn)
c.52-306T>A (n.52-306T>A)
c.122T>A (p.Ile41Asn)
c.107T>A (p.Ile36Asn)
n.384T>A
7g.151064299T>CCA370007917SLC4A2c.149T>C (p.Ile50Thr)
c.52-306T>C (n.52-306T>C)
c.122T>C (p.Ile41Thr)
c.107T>C (p.Ile36Thr)
n.384T>C
7g.151064299T>GCA370007918SLC4A2c.149T>G (p.Ile50Ser)
c.52-306T>G (n.52-306T>G)
c.122T>G (p.Ile41Ser)
c.107T>G (p.Ile36Ser)
n.384T>G
7g.151064300C>ACA4570738SLC4A2c.150C>A (p.Ile50=)
c.52-305C>A (n.52-305C>A)
c.123C>A (p.Ile41=)
c.108C>A (p.Ile36=)
n.385C>A
 dbSNP ExAC gnomAD v2
7g.151064300C=CA1752500335SLC4A2c.150C= (p.Ile50=)
c.52-305C= (n.52-305C=)
c.123C= (p.Ile41=)
c.108C= (p.Ile36=)
n.385C=
7g.151064300C>GCA370007919SLC4A2c.150C>G (p.Ile50Met)
c.52-305C>G (n.52-305C>G)
c.123C>G (p.Ile41Met)
c.108C>G (p.Ile36Met)
n.385C>G
7g.151064300C>TCA458644943SLC4A2c.150C>T (p.Ile50=)
c.52-305C>T (n.52-305C>T)
c.123C>T (p.Ile41=)
c.108C>T (p.Ile36=)
n.385C>T
7g.151064301C>ACA370007920SLC4A2c.151C>A (p.Leu51Ile)
c.52-304C>A (n.52-304C>A)
c.124C>A (p.Leu42Ile)
c.109C>A (p.Leu37Ile)
n.386C>A
7g.151064301C>GCA370007921SLC4A2c.151C>G (p.Leu51Val)
c.52-304C>G (n.52-304C>G)
c.124C>G (p.Leu42Val)
c.109C>G (p.Leu37Val)
n.386C>G
7g.151064301C>TCA458644944SLC4A2c.151C>T (p.Leu51=)
c.52-304C>T (n.52-304C>T)
c.124C>T (p.Leu42=)
c.109C>T (p.Leu37=)
n.386C>T
7g.151064302T>ACA370007922SLC4A2c.152T>A (p.Leu51Gln)
c.52-303T>A (n.52-303T>A)
c.125T>A (p.Leu42Gln)
c.110T>A (p.Leu37Gln)
n.387T>A
7g.151064302T>CCA370007923SLC4A2c.152T>C (p.Leu51Pro)
c.52-303T>C (n.52-303T>C)
c.125T>C (p.Leu42Pro)
c.110T>C (p.Leu37Pro)
n.387T>C
7g.151064302T>GCA370007924SLC4A2c.152T>G (p.Leu51Arg)
c.52-303T>G (n.52-303T>G)
c.125T>G (p.Leu42Arg)
c.110T>G (p.Leu37Arg)
n.387T>G
7g.151064303A>CCA458644945SLC4A2c.153A>C (p.Leu51=)
c.52-302A>C (n.52-302A>C)
c.126A>C (p.Leu42=)
c.111A>C (p.Leu37=)
n.388A>C
7g.151064303A>GCA458644947SLC4A2c.153A>G (p.Leu51=)
c.52-302A>G (n.52-302A>G)
c.126A>G (p.Leu42=)
c.111A>G (p.Leu37=)
n.388A>G
 gnomAD v4
7g.151064303A>TCA458644948SLC4A2c.153A>T (p.Leu51=)
c.52-302A>T (n.52-302A>T)
c.126A>T (p.Leu42=)
c.111A>T (p.Leu37=)
n.388A>T
7g.151064304C>ACA370007927SLC4A2c.154C>A (p.Gln52Lys)
c.52-301C>A (n.52-301C>A)
c.127C>A (p.Gln43Lys)
c.112C>A (p.Gln38Lys)
n.389C>A
7g.151064304C>GCA370007925SLC4A2c.154C>G (p.Gln52Glu)
c.52-301C>G (n.52-301C>G)
c.127C>G (p.Gln43Glu)
c.112C>G (p.Gln38Glu)
n.389C>G
7g.151064304C>TCA370007926SLC4A2c.154C>T (p.Gln52Ter)
c.52-301C>T (n.52-301C>T)
c.127C>T (p.Gln43Ter)
c.112C>T (p.Gln38Ter)
n.389C>T
7g.151064305A=CA1752500336SLC4A2c.155A= (p.Gln52=)
c.52-300A= (n.52-300A=)
c.128A= (p.Gln43=)
c.113A= (p.Gln38=)
n.390A=
7g.151064305A>CCA370007928SLC4A2c.155A>C (p.Gln52Pro)
c.52-300A>C (n.52-300A>C)
c.128A>C (p.Gln43Pro)
c.113A>C (p.Gln38Pro)
n.390A>C
7g.151064305A>GCA4570739SLC4A2c.155A>G (p.Gln52Arg)
c.52-300A>G (n.52-300A>G)
c.128A>G (p.Gln43Arg)
c.113A>G (p.Gln38Arg)
n.390A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064305A>TCA370007929SLC4A2c.155A>T (p.Gln52Leu)
c.52-300A>T (n.52-300A>T)
c.128A>T (p.Gln43Leu)
c.113A>T (p.Gln38Leu)
n.390A>T
7g.151064306G>ACA458875849SLC4A2c.156G>A (p.Gln52=)
c.52-299G>A (n.52-299G>A)
c.129G>A (p.Gln43=)
c.114G>A (p.Gln38=)
n.391G>A
7g.151064306G>CCA370007930SLC4A2c.156G>C (p.Gln52His)
c.52-299G>C (n.52-299G>C)
c.129G>C (p.Gln43His)
c.114G>C (p.Gln38His)
n.391G>C
7g.151064306G>TCA370007931SLC4A2c.156G>T (p.Gln52His)
c.52-299G>T (n.52-299G>T)
c.129G>T (p.Gln43His)
c.114G>T (p.Gln38His)
n.391G>T
7g.151064307G>ACA169084114SLC4A2c.157G>A (p.Glu53Lys)
c.52-298G>A (n.52-298G>A)
c.130G>A (p.Glu44Lys)
c.115G>A (p.Glu39Lys)
n.392G>A
 dbSNP
7g.151064307G>CCA370007932SLC4A2c.157G>C (p.Glu53Gln)
c.52-298G>C (n.52-298G>C)
c.130G>C (p.Glu44Gln)
c.115G>C (p.Glu39Gln)
n.392G>C
7g.151064307G=CA1752500337SLC4A2c.157G= (p.Glu53=)
c.52-298G= (n.52-298G=)
c.130G= (p.Glu44=)
c.115G= (p.Glu39=)
n.392G=
7g.151064307G>TCA370007933SLC4A2c.157G>T (p.Glu53Ter)
c.52-298G>T (n.52-298G>T)
c.130G>T (p.Glu44Ter)
c.115G>T (p.Glu39Ter)
n.392G>T
7g.151064308A>CCA370007934SLC4A2c.158A>C (p.Glu53Ala)
c.52-297A>C (n.52-297A>C)
c.131A>C (p.Glu44Ala)
c.116A>C (p.Glu39Ala)
n.393A>C
7g.151064308A>GCA370007935SLC4A2c.158A>G (p.Glu53Gly)
c.52-297A>G (n.52-297A>G)
c.131A>G (p.Glu44Gly)
c.116A>G (p.Glu39Gly)
n.393A>G
7g.151064308A>TCA370007936SLC4A2c.158A>T (p.Glu53Val)
c.52-297A>T (n.52-297A>T)
c.131A>T (p.Glu44Val)
c.116A>T (p.Glu39Val)
n.393A>T
7g.151064309G>ACA4570740SLC4A2c.159G>A (p.Glu53=)
c.52-296G>A (n.52-296G>A)
c.132G>A (p.Glu44=)
c.117G>A (p.Glu39=)
n.394G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064309G>CCA370007938SLC4A2c.159G>C (p.Glu53Asp)
c.52-296G>C (n.52-296G>C)
c.132G>C (p.Glu44Asp)
c.117G>C (p.Glu39Asp)
n.394G>C
7g.151064309G=CA1752500338SLC4A2c.159G= (p.Glu53=)
c.52-296G= (n.52-296G=)
c.132G= (p.Glu44=)
c.117G= (p.Glu39=)
n.394G=
7g.151064309G>TCA370007937SLC4A2c.159G>T (p.Glu53Asp)
c.52-296G>T (n.52-296G>T)
c.132G>T (p.Glu44Asp)
c.117G>T (p.Glu39Asp)
n.394G>T
 dbSNP gnomAD v3 gnomAD v4
7g.151064310G>ACA370007939SLC4A2c.160G>A (p.Ala54Thr)
c.52-295G>A (n.52-295G>A)
c.133G>A (p.Ala45Thr)
c.118G>A (p.Ala40Thr)
n.395G>A
 gnomAD v4
7g.151064310G>CCA370007940SLC4A2c.160G>C (p.Ala54Pro)
c.52-295G>C (n.52-295G>C)
c.133G>C (p.Ala45Pro)
c.118G>C (p.Ala40Pro)
n.395G>C
7g.151064310G>TCA370007941SLC4A2c.160G>T (p.Ala54Ser)
c.52-295G>T (n.52-295G>T)
c.133G>T (p.Ala45Ser)
c.118G>T (p.Ala40Ser)
n.395G>T
 gnomAD v4
7g.151064311C>ACA370007942SLC4A2c.161C>A (p.Ala54Asp)
c.52-294C>A (n.52-294C>A)
c.134C>A (p.Ala45Asp)
c.119C>A (p.Ala40Asp)
n.396C>A
7g.151064311C>GCA370007943SLC4A2c.161C>G (p.Ala54Gly)
c.52-294C>G (n.52-294C>G)
c.134C>G (p.Ala45Gly)
c.119C>G (p.Ala40Gly)
n.396C>G
7g.151064311C>TCA370007944SLC4A2c.161C>T (p.Ala54Val)
c.52-294C>T (n.52-294C>T)
c.134C>T (p.Ala45Val)
c.119C>T (p.Ala40Val)
n.396C>T
7g.151064312C>ACA458875850SLC4A2c.162C>A (p.Ala54=)
c.52-293C>A (n.52-293C>A)
c.135C>A (p.Ala45=)
c.120C>A (p.Ala40=)
n.397C>A
7g.151064312C=CA1752500339SLC4A2c.162C= (p.Ala54=)
c.52-293C= (n.52-293C=)
c.135C= (p.Ala45=)
c.120C= (p.Ala40=)
n.397C=
7g.151064312C>GCA458875851SLC4A2c.162C>G (p.Ala54=)
c.52-293C>G (n.52-293C>G)
c.135C>G (p.Ala45=)
c.120C>G (p.Ala40=)
n.397C>G
 gnomAD v4
7g.151064312C>TCA4570741SLC4A2c.162C>T (p.Ala54=)
c.52-293C>T (n.52-293C>T)
c.135C>T (p.Ala45=)
c.120C>T (p.Ala40=)
n.397C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151064313G>ACA370007945SLC4A2c.163G>A (p.Gly55Arg)
c.52-292G>A (n.52-292G>A)
c.136G>A (p.Gly46Arg)
c.121G>A (p.Gly41Arg)
n.398G>A
 dbSNP gnomAD v4
7g.151064313G>CCA370007946SLC4A2c.163G>C (p.Gly55Arg)
c.52-292G>C (n.52-292G>C)
c.136G>C (p.Gly46Arg)
c.121G>C (p.Gly41Arg)
n.398G>C
7g.151064313G=CA1752500340SLC4A2c.163G= (p.Gly55=)
c.52-292G= (n.52-292G=)
c.136G= (p.Gly46=)
c.121G= (p.Gly41=)
n.398G=
7g.151064313G>TCA370007947SLC4A2c.163G>T (p.Gly55Trp)
c.52-292G>T (n.52-292G>T)
c.136G>T (p.Gly46Trp)
c.121G>T (p.Gly41Trp)
n.398G>T
7g.151064314G>ACA370007948SLC4A2c.164G>A (p.Gly55Glu)
c.52-291G>A (n.52-291G>A)
c.137G>A (p.Gly46Glu)
c.122G>A (p.Gly41Glu)
n.399G>A
7g.151064314G>CCA370007949SLC4A2c.164G>C (p.Gly55Ala)
c.52-291G>C (n.52-291G>C)
c.137G>C (p.Gly46Ala)
c.122G>C (p.Gly41Ala)
n.399G>C
7g.151064314G>TCA370007950SLC4A2c.164G>T (p.Gly55Val)
c.52-291G>T (n.52-291G>T)
c.137G>T (p.Gly46Val)
c.122G>T (p.Gly41Val)
n.399G>T

Number of alleles fetched