Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
7g.151064315G>ACA169084124SLC4A2c.165G>A (p.Gly55=)
c.52-290G>A (n.52-290G>A)
c.138G>A (p.Gly46=)
c.123G>A (p.Gly41=)
n.400G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151064315G>CCA458875852SLC4A2c.165G>C (p.Gly55=)
c.52-290G>C (n.52-290G>C)
c.138G>C (p.Gly46=)
c.123G>C (p.Gly41=)
n.400G>C
7g.151064315G=CA1752500341SLC4A2c.165G= (p.Gly55=)
c.52-290G= (n.52-290G=)
c.138G= (p.Gly46=)
c.123G= (p.Gly41=)
n.400G=
7g.151064315G>TCA458875853SLC4A2c.165G>T (p.Gly55=)
c.52-290G>T (n.52-290G>T)
c.138G>T (p.Gly46=)
c.123G>T (p.Gly41=)
n.400G>T
7g.151064316T>ACA370007953SLC4A2c.166T>A (p.Ser56Thr)
c.52-289T>A (n.52-289T>A)
c.139T>A (p.Ser47Thr)
c.124T>A (p.Ser42Thr)
n.401T>A
7g.151064316T>CCA370007951SLC4A2c.166T>C (p.Ser56Pro)
c.52-289T>C (n.52-289T>C)
c.139T>C (p.Ser47Pro)
c.124T>C (p.Ser42Pro)
n.401T>C
7g.151064316T>GCA370007952SLC4A2c.166T>G (p.Ser56Ala)
c.52-289T>G (n.52-289T>G)
c.139T>G (p.Ser47Ala)
c.124T>G (p.Ser42Ala)
n.401T>G
7g.151064317C>ACA370007954SLC4A2c.167C>A (p.Ser56Tyr)
c.52-288C>A (n.52-288C>A)
c.140C>A (p.Ser47Tyr)
c.125C>A (p.Ser42Tyr)
n.402C>A
 dbSNP gnomAD v2
7g.151064317C=CA1752500342SLC4A2c.167C= (p.Ser56=)
c.52-288C= (n.52-288C=)
c.140C= (p.Ser47=)
c.125C= (p.Ser42=)
n.402C=
7g.151064317C>GCA370007955SLC4A2c.167C>G (p.Ser56Cys)
c.52-288C>G (n.52-288C>G)
c.140C>G (p.Ser47Cys)
c.125C>G (p.Ser42Cys)
n.402C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.151064317C>TCA370007956SLC4A2c.167C>T (p.Ser56Phe)
c.52-288C>T (n.52-288C>T)
c.140C>T (p.Ser47Phe)
c.125C>T (p.Ser42Phe)
n.402C>T
7g.151064318T>ACA458875854SLC4A2c.168T>A (p.Ser56=)
c.52-287T>A (n.52-287T>A)
c.141T>A (p.Ser47=)
c.126T>A (p.Ser42=)
n.403T>A
7g.151064318T>CCA458875855SLC4A2c.168T>C (p.Ser56=)
c.52-287T>C (n.52-287T>C)
c.141T>C (p.Ser47=)
c.126T>C (p.Ser42=)
n.403T>C
7g.151064318T>GCA458875856SLC4A2c.168T>G (p.Ser56=)
c.52-287T>G (n.52-287T>G)
c.141T>G (p.Ser47=)
c.126T>G (p.Ser42=)
n.403T>G
7g.151064319C>ACA370007957SLC4A2c.169C>A (p.Arg57Ser)
c.52-286C>A (n.52-286C>A)
c.142C>A (p.Arg48Ser)
c.127C>A (p.Arg43Ser)
n.404C>A
7g.151064319C=CA1752500343SLC4A2c.169C= (p.Arg57=)
c.52-286C= (n.52-286C=)
c.142C= (p.Arg48=)
c.127C= (p.Arg43=)
n.404C=
7g.151064319C>GCA370007958SLC4A2c.169C>G (p.Arg57Gly)
c.52-286C>G (n.52-286C>G)
c.142C>G (p.Arg48Gly)
c.127C>G (p.Arg43Gly)
n.404C>G
7g.151064319C>TCA4570742SLC4A2c.169C>T (p.Arg57Cys)
c.52-286C>T (n.52-286C>T)
c.142C>T (p.Arg48Cys)
c.127C>T (p.Arg43Cys)
n.404C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151064320G>ACA4570743SLC4A2c.170G>A (p.Arg57His)
c.52-285G>A (n.52-285G>A)
c.143G>A (p.Arg48His)
c.128G>A (p.Arg43His)
n.405G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.151064320G>CCA370007959SLC4A2c.170G>C (p.Arg57Pro)
c.52-285G>C (n.52-285G>C)
c.143G>C (p.Arg48Pro)
c.128G>C (p.Arg43Pro)
n.405G>C
7g.151064320G=CA1752500344SLC4A2c.170G= (p.Arg57=)
c.52-285G= (n.52-285G=)
c.143G= (p.Arg48=)
c.128G= (p.Arg43=)
n.405G=
7g.151064320G>TCA370007960SLC4A2c.170G>T (p.Arg57Leu)
c.52-285G>T (n.52-285G>T)
c.143G>T (p.Arg48Leu)
c.128G>T (p.Arg43Leu)
n.405G>T
 gnomAD v4
7g.151064321T>ACA458875858SLC4A2c.171T>A (p.Arg57=)
c.52-284T>A (n.52-284T>A)
c.144T>A (p.Arg48=)
c.129T>A (p.Arg43=)
n.406T>A
 dbSNP gnomAD v3 gnomAD v4
7g.151064321T>CCA458875859SLC4A2c.171T>C (p.Arg57=)
c.52-284T>C (n.52-284T>C)
c.144T>C (p.Arg48=)
c.129T>C (p.Arg43=)
n.406T>C
 gnomAD v4
7g.151064321T>GCA458875857SLC4A2c.171T>G (p.Arg57=)
c.52-284T>G (n.52-284T>G)
c.144T>G (p.Arg48=)
c.129T>G (p.Arg43=)
n.406T>G
7g.151064321T=CA1752500345SLC4A2c.171T= (p.Arg57=)
c.52-284T= (n.52-284T=)
c.144T= (p.Arg48=)
c.129T= (p.Arg43=)
n.406T=
7g.151064322G>ACA370007961SLC4A2c.172G>A (p.Gly58Arg)
c.52-283G>A (n.52-283G>A)
c.145G>A (p.Gly49Arg)
c.130G>A (p.Gly44Arg)
n.407G>A
7g.151064322G>CCA370007962SLC4A2c.172G>C (p.Gly58Arg)
c.52-283G>C (n.52-283G>C)
c.145G>C (p.Gly49Arg)
c.130G>C (p.Gly44Arg)
n.407G>C
7g.151064322G>TCA370007963SLC4A2c.172G>T (p.Gly58Ter)
c.52-283G>T (n.52-283G>T)
c.145G>T (p.Gly49Ter)
c.130G>T (p.Gly44Ter)
n.407G>T
7g.151064323G>ACA370007965SLC4A2c.173G>A (p.Gly58Glu)
c.52-282G>A (n.52-282G>A)
c.146G>A (p.Gly49Glu)
c.131G>A (p.Gly44Glu)
n.408G>A
7g.151064323G>CCA370007966SLC4A2c.173G>C (p.Gly58Ala)
c.52-282G>C (n.52-282G>C)
c.146G>C (p.Gly49Ala)
c.131G>C (p.Gly44Ala)
n.408G>C
7g.151064323G>TCA370007964SLC4A2c.173G>T (p.Gly58Val)
c.52-282G>T (n.52-282G>T)
c.146G>T (p.Gly49Val)
c.131G>T (p.Gly44Val)
n.408G>T
7g.151064324A>CCA458875862SLC4A2c.174A>C (p.Gly58=)
c.52-281A>C (n.52-281A>C)
c.147A>C (p.Gly49=)
c.132A>C (p.Gly44=)
n.409A>C
7g.151064324A>GCA458875860SLC4A2c.174A>G (p.Gly58=)
c.52-281A>G (n.52-281A>G)
c.147A>G (p.Gly49=)
c.132A>G (p.Gly44=)
n.409A>G
7g.151064324A>TCA458875861SLC4A2c.174A>T (p.Gly58=)
c.52-281A>T (n.52-281A>T)
c.147A>T (p.Gly49=)
c.132A>T (p.Gly44=)
n.409A>T
7g.151064325G>ACA4570744SLC4A2c.175G>A (p.Gly59Arg)
c.52-280G>A (n.52-280G>A)
c.148G>A (p.Gly50Arg)
c.133G>A (p.Gly45Arg)
n.410G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.151064325G>CCA370007967SLC4A2c.175G>C (p.Gly59Arg)
c.52-280G>C (n.52-280G>C)
c.148G>C (p.Gly50Arg)
c.133G>C (p.Gly45Arg)
n.410G>C
7g.151064325G=CA1752500346SLC4A2c.175G= (p.Gly59=)
c.52-280G= (n.52-280G=)
c.148G= (p.Gly50=)
c.133G= (p.Gly45=)
n.410G=
7g.151064325G>TCA370007968SLC4A2c.175G>T (p.Gly59Trp)
c.52-280G>T (n.52-280G>T)
c.148G>T (p.Gly50Trp)
c.133G>T (p.Gly45Trp)
n.410G>T
7g.151064326_151064328delCA2579064980SLC4A2c.176_178del (p.Gly59del)
c.52-279_52-277del (n.52-279_52-277del)
c.149_151del (p.Gly50del)
c.134_136del (p.Gly45del)
n.411_413del
7g.151064326G>ACA370007969SLC4A2c.176G>A (p.Gly59Glu)
c.52-279G>A (n.52-279G>A)
c.149G>A (p.Gly50Glu)
c.134G>A (p.Gly45Glu)
n.411G>A
7g.151064326G>CCA370007970SLC4A2c.176G>C (p.Gly59Ala)
c.52-279G>C (n.52-279G>C)
c.149G>C (p.Gly50Ala)
c.134G>C (p.Gly45Ala)
n.411G>C
7g.151064326G>TCA370007971SLC4A2c.176G>T (p.Gly59Val)
c.52-279G>T (n.52-279G>T)
c.149G>T (p.Gly50Val)
c.134G>T (p.Gly45Val)
n.411G>T
7g.151064327G>ACA458875863SLC4A2c.177G>A (p.Gly59=)
c.52-278G>A (n.52-278G>A)
c.150G>A (p.Gly50=)
c.135G>A (p.Gly45=)
n.412G>A
7g.151064327G>CCA458875865SLC4A2c.177G>C (p.Gly59=)
c.52-278G>C (n.52-278G>C)
c.150G>C (p.Gly50=)
c.135G>C (p.Gly45=)
n.412G>C
7g.151064327G>TCA458875864SLC4A2c.177G>T (p.Gly59=)
c.52-278G>T (n.52-278G>T)
c.150G>T (p.Gly50=)
c.135G>T (p.Gly45=)
n.412G>T
7g.151064328G>ACA370007972SLC4A2c.178G>A (p.Glu60Lys)
c.52-277G>A (n.52-277G>A)
c.151G>A (p.Glu51Lys)
c.136G>A (p.Glu46Lys)
n.413G>A
 COSMIC
7g.151064328G>CCA370007973SLC4A2c.178G>C (p.Glu60Gln)
c.52-277G>C (n.52-277G>C)
c.151G>C (p.Glu51Gln)
c.136G>C (p.Glu46Gln)
n.413G>C
7g.151064328G>TCA370007974SLC4A2c.178G>T (p.Glu60Ter)
c.52-277G>T (n.52-277G>T)
c.151G>T (p.Glu51Ter)
c.136G>T (p.Glu46Ter)
n.413G>T
7g.151064329A>CCA370007975SLC4A2c.179A>C (p.Glu60Ala)
c.52-276A>C (n.52-276A>C)
c.152A>C (p.Glu51Ala)
c.137A>C (p.Glu46Ala)
n.414A>C
7g.151064329A>GCA370007976SLC4A2c.179A>G (p.Glu60Gly)
c.52-276A>G (n.52-276A>G)
c.152A>G (p.Glu51Gly)
c.137A>G (p.Glu46Gly)
n.414A>G
7g.151064329A>TCA370007977SLC4A2c.179A>T (p.Glu60Val)
c.52-276A>T (n.52-276A>T)
c.152A>T (p.Glu51Val)
c.137A>T (p.Glu46Val)
n.414A>T
7g.151064330G>ACA458875866SLC4A2c.180G>A (p.Glu60=)
c.52-275G>A (n.52-275G>A)
c.153G>A (p.Glu51=)
c.138G>A (p.Glu46=)
n.415G>A
7g.151064330G>CCA370007978SLC4A2c.180G>C (p.Glu60Asp)
c.52-275G>C (n.52-275G>C)
c.153G>C (p.Glu51Asp)
c.138G>C (p.Glu46Asp)
n.415G>C
7g.151064330G>TCA370007979SLC4A2c.180G>T (p.Glu60Asp)
c.52-275G>T (n.52-275G>T)
c.153G>T (p.Glu51Asp)
c.138G>T (p.Glu46Asp)
n.415G>T
7g.151064331G>ACA370007980SLC4A2c.181G>A (p.Glu61Lys)
c.52-274G>A (n.52-274G>A)
c.154G>A (p.Glu52Lys)
c.139G>A (p.Glu47Lys)
n.416G>A
7g.151064331G>CCA370007982SLC4A2c.181G>C (p.Glu61Gln)
c.52-274G>C (n.52-274G>C)
c.154G>C (p.Glu52Gln)
c.139G>C (p.Glu47Gln)
n.416G>C
7g.151064331G>TCA370007981SLC4A2c.181G>T (p.Glu61Ter)
c.52-274G>T (n.52-274G>T)
c.154G>T (p.Glu52Ter)
c.139G>T (p.Glu47Ter)
n.416G>T
7g.151064332A>CCA370007983SLC4A2c.182A>C (p.Glu61Ala)
c.52-273A>C (n.52-273A>C)
c.155A>C (p.Glu52Ala)
c.140A>C (p.Glu47Ala)
n.417A>C
7g.151064332A>GCA370007984SLC4A2c.182A>G (p.Glu61Gly)
c.52-273A>G (n.52-273A>G)
c.155A>G (p.Glu52Gly)
c.140A>G (p.Glu47Gly)
n.417A>G
7g.151064332A>TCA370007985SLC4A2c.182A>T (p.Glu61Val)
c.52-273A>T (n.52-273A>T)
c.155A>T (p.Glu52Val)
c.140A>T (p.Glu47Val)
n.417A>T
7g.151064333G>ACA458875867SLC4A2c.183G>A (p.Glu61=)
c.52-272G>A (n.52-272G>A)
c.156G>A (p.Glu52=)
c.141G>A (p.Glu47=)
n.418G>A
 gnomAD v4
7g.151064333G>CCA370007986SLC4A2c.183G>C (p.Glu61Asp)
c.52-272G>C (n.52-272G>C)
c.156G>C (p.Glu52Asp)
c.141G>C (p.Glu47Asp)
n.418G>C
7g.151064333G>TCA370007987SLC4A2c.183G>T (p.Glu61Asp)
c.52-272G>T (n.52-272G>T)
c.156G>T (p.Glu52Asp)
c.141G>T (p.Glu47Asp)
n.418G>T
7g.151064334C>ACA370007988SLC4A2c.184C>A (p.Pro62Thr)
c.52-271C>A (n.52-271C>A)
c.157C>A (p.Pro53Thr)
c.142C>A (p.Pro48Thr)
n.419C>A
7g.151064334C>GCA370007989SLC4A2c.184C>G (p.Pro62Ala)
c.52-271C>G (n.52-271C>G)
c.157C>G (p.Pro53Ala)
c.142C>G (p.Pro48Ala)
n.419C>G
7g.151064334C>TCA370007990SLC4A2c.184C>T (p.Pro62Ser)
c.52-271C>T (n.52-271C>T)
c.157C>T (p.Pro53Ser)
c.142C>T (p.Pro48Ser)
n.419C>T
 gnomAD v4
7g.151064335C>ACA370007991SLC4A2c.185C>A (p.Pro62Gln)
c.52-270C>A (n.52-270C>A)
c.158C>A (p.Pro53Gln)
c.143C>A (p.Pro48Gln)
n.420C>A
7g.151064335C>GCA370007992SLC4A2c.185C>G (p.Pro62Arg)
c.52-270C>G (n.52-270C>G)
c.158C>G (p.Pro53Arg)
c.143C>G (p.Pro48Arg)
n.420C>G
7g.151064335C>TCA370007993SLC4A2c.185C>T (p.Pro62Leu)
c.52-270C>T (n.52-270C>T)
c.158C>T (p.Pro53Leu)
c.143C>T (p.Pro48Leu)
n.420C>T
 COSMIC
7g.151064336A>CCA458875868SLC4A2c.186A>C (p.Pro62=)
c.52-269A>C (n.52-269A>C)
c.159A>C (p.Pro53=)
c.144A>C (p.Pro48=)
n.421A>C
 gnomAD v4
7g.151064336A>GCA458875869SLC4A2c.186A>G (p.Pro62=)
c.52-269A>G (n.52-269A>G)
c.159A>G (p.Pro53=)
c.144A>G (p.Pro48=)
n.421A>G
7g.151064336A>TCA458875870SLC4A2c.186A>T (p.Pro62=)
c.52-269A>T (n.52-269A>T)
c.159A>T (p.Pro53=)
c.144A>T (p.Pro48=)
n.421A>T
7g.151064337G>ACA370007995SLC4A2c.187G>A (p.Gly63Ser)
c.52-268G>A (n.52-268G>A)
c.160G>A (p.Gly54Ser)
c.145G>A (p.Gly49Ser)
n.422G>A
 gnomAD v4
7g.151064337G>CCA370007996SLC4A2c.187G>C (p.Gly63Arg)
c.52-268G>C (n.52-268G>C)
c.160G>C (p.Gly54Arg)
c.145G>C (p.Gly49Arg)
n.422G>C
7g.151064337G>TCA370007994SLC4A2c.187G>T (p.Gly63Cys)
c.52-268G>T (n.52-268G>T)
c.160G>T (p.Gly54Cys)
c.145G>T (p.Gly49Cys)
n.422G>T
 COSMIC
7g.151064338G>ACA370007997SLC4A2c.188G>A (p.Gly63Asp)
c.52-267G>A (n.52-267G>A)
c.161G>A (p.Gly54Asp)
c.146G>A (p.Gly49Asp)
n.423G>A
7g.151064338G>CCA370007998SLC4A2c.188G>C (p.Gly63Ala)
c.52-267G>C (n.52-267G>C)
c.161G>C (p.Gly54Ala)
c.146G>C (p.Gly49Ala)
n.423G>C
7g.151064338G>TCA370007999SLC4A2c.188G>T (p.Gly63Val)
c.52-267G>T (n.52-267G>T)
c.161G>T (p.Gly54Val)
c.146G>T (p.Gly49Val)
n.423G>T
7g.151064339C>ACA458875871SLC4A2c.189C>A (p.Gly63=)
c.52-266C>A (n.52-266C>A)
c.162C>A (p.Gly54=)
c.147C>A (p.Gly49=)
n.424C>A
7g.151064339C>GCA458875872SLC4A2c.189C>G (p.Gly63=)
c.52-266C>G (n.52-266C>G)
c.162C>G (p.Gly54=)
c.147C>G (p.Gly49=)
n.424C>G
7g.151064339C>TCA458875873SLC4A2c.189C>T (p.Gly63=)
c.52-266C>T (n.52-266C>T)
c.162C>T (p.Gly54=)
c.147C>T (p.Gly49=)
n.424C>T
7g.151064340C>ACA370008000SLC4A2c.190C>A (p.Arg64Ser)
c.52-265C>A (n.52-265C>A)
c.163C>A (p.Arg55Ser)
c.148C>A (p.Arg50Ser)
n.425C>A
7g.151064340C=CA1752500347SLC4A2c.190C= (p.Arg64=)
c.52-265C= (n.52-265C=)
c.163C= (p.Arg55=)
c.148C= (p.Arg50=)
n.425C=
7g.151064340C>GCA370008001SLC4A2c.190C>G (p.Arg64Gly)
c.52-265C>G (n.52-265C>G)
c.163C>G (p.Arg55Gly)
c.148C>G (p.Arg50Gly)
n.425C>G
7g.151064340C>TCA370008002SLC4A2c.190C>T (p.Arg64Cys)
c.52-265C>T (n.52-265C>T)
c.163C>T (p.Arg55Cys)
c.148C>T (p.Arg50Cys)
n.425C>T
 dbSNP gnomAD v3 gnomAD v4
7g.151064340_151064341insACCCCCCACCAAACACACCCAACCA2778429264SLC4A2c.190_191insACCCCCCACCAAACACACCCAAC (p.Arg64HisfsTer?)
c.52-265_52-264insACCCCCCACCAAACACACCCAAC (n.52-265_52-264insACCCCCCACCAAACACACCCAAC)
c.163_164insACCCCCCACCAAACACACCCAAC (p.Arg55HisfsTer?)
c.148_149insACCCCCCACCAAACACACCCAAC (p.Arg50HisfsTer?)
n.425_426insACCCCCCACCAAACACACCCAAC
7g.151064341G>ACA370008003SLC4A2c.191G>A (p.Arg64His)
c.52-264G>A (n.52-264G>A)
c.164G>A (p.Arg55His)
c.149G>A (p.Arg50His)
n.426G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.151064341G>CCA370008004SLC4A2c.191G>C (p.Arg64Pro)
c.52-264G>C (n.52-264G>C)
c.164G>C (p.Arg55Pro)
c.149G>C (p.Arg50Pro)
n.426G>C
7g.151064341G=CA1752500348SLC4A2c.191G= (p.Arg64=)
c.52-264G= (n.52-264G=)
c.164G= (p.Arg55=)
c.149G= (p.Arg50=)
n.426G=
7g.151064341G>TCA370008005SLC4A2c.191G>T (p.Arg64Leu)
c.52-264G>T (n.52-264G>T)
c.164G>T (p.Arg55Leu)
c.149G>T (p.Arg50Leu)
n.426G>T
7g.151064342C>ACA4570745SLC4A2c.192C>A (p.Arg64=)
c.52-263C>A (n.52-263C>A)
c.165C>A (p.Arg55=)
c.150C>A (p.Arg50=)
n.427C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064342C=CA1752500349SLC4A2c.192C= (p.Arg64=)
c.52-263C= (n.52-263C=)
c.165C= (p.Arg55=)
c.150C= (p.Arg50=)
n.427C=
7g.151064342C>GCA458875875SLC4A2c.192C>G (p.Arg64=)
c.52-263C>G (n.52-263C>G)
c.165C>G (p.Arg55=)
c.150C>G (p.Arg50=)
n.427C>G
7g.151064342C>TCA458875874SLC4A2c.192C>T (p.Arg64=)
c.52-263C>T (n.52-263C>T)
c.165C>T (p.Arg55=)
c.150C>T (p.Arg50=)
n.427C>T
 dbSNP gnomAD v3 gnomAD v4
7g.151064343A>CCA370008006SLC4A2c.193A>C (p.Ser65Arg)
c.52-262A>C (n.52-262A>C)
c.166A>C (p.Ser56Arg)
c.151A>C (p.Ser51Arg)
n.428A>C
7g.151064343A>GCA370008007SLC4A2c.193A>G (p.Ser65Gly)
c.52-262A>G (n.52-262A>G)
c.166A>G (p.Ser56Gly)
c.151A>G (p.Ser51Gly)
n.428A>G
7g.151064343A>TCA370008008SLC4A2c.193A>T (p.Ser65Cys)
c.52-262A>T (n.52-262A>T)
c.166A>T (p.Ser56Cys)
c.151A>T (p.Ser51Cys)
n.428A>T
7g.151064344G>ACA370008010SLC4A2c.194G>A (p.Ser65Asn)
c.52-261G>A (n.52-261G>A)
c.167G>A (p.Ser56Asn)
c.152G>A (p.Ser51Asn)
n.429G>A
7g.151064344G>CCA370008011SLC4A2c.194G>C (p.Ser65Thr)
c.52-261G>C (n.52-261G>C)
c.167G>C (p.Ser56Thr)
c.152G>C (p.Ser51Thr)
n.429G>C
 dbSNP gnomAD v3 gnomAD v4
7g.151064344G=CA1752500350SLC4A2c.194G= (p.Ser65=)
c.52-261G= (n.52-261G=)
c.167G= (p.Ser56=)
c.152G= (p.Ser51=)
n.429G=
7g.151064344G>TCA370008009SLC4A2c.194G>T (p.Ser65Ile)
c.52-261G>T (n.52-261G>T)
c.167G>T (p.Ser56Ile)
c.152G>T (p.Ser51Ile)
n.429G>T
7g.151064345C>ACA370008012SLC4A2c.195C>A (p.Ser65Arg)
c.52-260C>A (n.52-260C>A)
c.168C>A (p.Ser56Arg)
c.153C>A (p.Ser51Arg)
n.430C>A
7g.151064345C>GCA370008013SLC4A2c.195C>G (p.Ser65Arg)
c.52-260C>G (n.52-260C>G)
c.168C>G (p.Ser56Arg)
c.153C>G (p.Ser51Arg)
n.430C>G
7g.151064345C>TCA458875876SLC4A2c.195C>T (p.Ser65=)
c.52-260C>T (n.52-260C>T)
c.168C>T (p.Ser56=)
c.153C>T (p.Ser51=)
n.430C>T
7g.151064346T>ACA370008014SLC4A2c.196T>A (p.Tyr66Asn)
c.52-259T>A (n.52-259T>A)
c.169T>A (p.Tyr57Asn)
c.154T>A (p.Tyr52Asn)
n.431T>A
7g.151064346T>CCA370008015SLC4A2c.196T>C (p.Tyr66His)
c.52-259T>C (n.52-259T>C)
c.169T>C (p.Tyr57His)
c.154T>C (p.Tyr52His)
n.431T>C
7g.151064346T>GCA370008016SLC4A2c.196T>G (p.Tyr66Asp)
c.52-259T>G (n.52-259T>G)
c.169T>G (p.Tyr57Asp)
c.154T>G (p.Tyr52Asp)
n.431T>G
7g.151064347A>CCA370008019SLC4A2c.197A>C (p.Tyr66Ser)
c.52-258A>C (n.52-258A>C)
c.170A>C (p.Tyr57Ser)
c.155A>C (p.Tyr52Ser)
n.432A>C
7g.151064347A>GCA370008018SLC4A2c.197A>G (p.Tyr66Cys)
c.52-258A>G (n.52-258A>G)
c.170A>G (p.Tyr57Cys)
c.155A>G (p.Tyr52Cys)
n.432A>G
7g.151064347A>TCA370008017SLC4A2c.197A>T (p.Tyr66Phe)
c.52-258A>T (n.52-258A>T)
c.170A>T (p.Tyr57Phe)
c.155A>T (p.Tyr52Phe)
n.432A>T
7g.151064348T>ACA370008020SLC4A2c.198T>A (p.Tyr66Ter)
c.52-257T>A (n.52-257T>A)
c.171T>A (p.Tyr57Ter)
c.156T>A (p.Tyr52Ter)
n.433T>A
7g.151064348T>CCA458875877SLC4A2c.198T>C (p.Tyr66=)
c.52-257T>C (n.52-257T>C)
c.171T>C (p.Tyr57=)
c.156T>C (p.Tyr52=)
n.433T>C
7g.151064348T>GCA370008021SLC4A2c.198T>G (p.Tyr66Ter)
c.52-257T>G (n.52-257T>G)
c.171T>G (p.Tyr57Ter)
c.156T>G (p.Tyr52Ter)
n.433T>G
 dbSNP gnomAD v3 gnomAD v4
7g.151064348T=CA1752500351SLC4A2c.198T= (p.Tyr66=)
c.52-257T= (n.52-257T=)
c.171T= (p.Tyr57=)
c.156T= (p.Tyr52=)
n.433T=
7g.151064349G>ACA370008022SLC4A2c.199G>A (p.Gly67Arg)
c.52-256G>A (n.52-256G>A)
c.172G>A (p.Gly58Arg)
c.157G>A (p.Gly53Arg)
n.434G>A
7g.151064349G>CCA370008023SLC4A2c.199G>C (p.Gly67Arg)
c.52-256G>C (n.52-256G>C)
c.172G>C (p.Gly58Arg)
c.157G>C (p.Gly53Arg)
n.434G>C
7g.151064349G>TCA370008024SLC4A2c.199G>T (p.Gly67Trp)
c.52-256G>T (n.52-256G>T)
c.172G>T (p.Gly58Trp)
c.157G>T (p.Gly53Trp)
n.434G>T
7g.151064353_151064375dupCA4570746SLC4A2c.203_217+8dup
c.52-252_52-230dup (n.52-252_52-230dup)
c.176_190+8dup
c.161_175+8dup
n.438_460dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.151064350G>ACA370008027SLC4A2c.200G>A (p.Gly67Glu)
c.52-255G>A (n.52-255G>A)
c.173G>A (p.Gly58Glu)
c.158G>A (p.Gly53Glu)
n.435G>A
 dbSNP
7g.151064350G>CCA370008026SLC4A2c.200G>C (p.Gly67Ala)
c.52-255G>C (n.52-255G>C)
c.173G>C (p.Gly58Ala)
c.158G>C (p.Gly53Ala)
n.435G>C
7g.151064350G=CA1752500352SLC4A2c.200G= (p.Gly67=)
c.52-255G= (n.52-255G=)
c.173G= (p.Gly58=)
c.158G= (p.Gly53=)
n.435G=
7g.151064350G>TCA370008025SLC4A2c.200G>T (p.Gly67Val)
c.52-255G>T (n.52-255G>T)
c.173G>T (p.Gly58Val)
c.158G>T (p.Gly53Val)
n.435G>T
7g.151064351G>ACA458875880SLC4A2c.201G>A (p.Gly67=)
c.52-254G>A (n.52-254G>A)
c.174G>A (p.Gly58=)
c.159G>A (p.Gly53=)
n.436G>A
7g.151064351G>CCA458875878SLC4A2c.201G>C (p.Gly67=)
c.52-254G>C (n.52-254G>C)
c.174G>C (p.Gly58=)
c.159G>C (p.Gly53=)
n.436G>C
 dbSNP gnomAD v3 gnomAD v4
7g.151064351G=CA1752500353SLC4A2c.201G= (p.Gly67=)
c.52-254G= (n.52-254G=)
c.174G= (p.Gly58=)
c.159G= (p.Gly53=)
n.436G=
7g.151064351G>TCA458875879SLC4A2c.201G>T (p.Gly67=)
c.52-254G>T (n.52-254G>T)
c.174G>T (p.Gly58=)
c.159G>T (p.Gly53=)
n.436G>T
7g.151064352G>ACA370008028SLC4A2c.202G>A (p.Glu68Lys)
c.52-253G>A (n.52-253G>A)
c.175G>A (p.Glu59Lys)
c.160G>A (p.Glu54Lys)
n.437G>A
 dbSNP
7g.151064352G>CCA370008030SLC4A2c.202G>C (p.Glu68Gln)
c.52-253G>C (n.52-253G>C)
c.175G>C (p.Glu59Gln)
c.160G>C (p.Glu54Gln)
n.437G>C
7g.151064352G=CA1752500354SLC4A2c.202G= (p.Glu68=)
c.52-253G= (n.52-253G=)
c.175G= (p.Glu59=)
c.160G= (p.Glu54=)
n.437G=
7g.151064352G>TCA370008029SLC4A2c.202G>T (p.Glu68Ter)
c.52-253G>T (n.52-253G>T)
c.175G>T (p.Glu59Ter)
c.160G>T (p.Glu54Ter)
n.437G>T
7g.151064353A>CCA370008031SLC4A2c.203A>C (p.Glu68Ala)
c.52-252A>C (n.52-252A>C)
c.176A>C (p.Glu59Ala)
c.161A>C (p.Glu54Ala)
n.438A>C
7g.151064353A>GCA370008033SLC4A2c.203A>G (p.Glu68Gly)
c.52-252A>G (n.52-252A>G)
c.176A>G (p.Glu59Gly)
c.161A>G (p.Glu54Gly)
n.438A>G
 gnomAD v4
7g.151064353A>TCA370008032SLC4A2c.203A>T (p.Glu68Val)
c.52-252A>T (n.52-252A>T)
c.176A>T (p.Glu59Val)
c.161A>T (p.Glu54Val)
n.438A>T
7g.151064354G>ACA458875881SLC4A2c.204G>A (p.Glu68=)
c.52-251G>A (n.52-251G>A)
c.177G>A (p.Glu59=)
c.162G>A (p.Glu54=)
n.439G>A
 gnomAD v4
7g.151064354G>CCA370008034SLC4A2c.204G>C (p.Glu68Asp)
c.52-251G>C (n.52-251G>C)
c.177G>C (p.Glu59Asp)
c.162G>C (p.Glu54Asp)
n.439G>C
7g.151064354G>TCA370008035SLC4A2c.204G>T (p.Glu68Asp)
c.52-251G>T (n.52-251G>T)
c.177G>T (p.Glu59Asp)
c.162G>T (p.Glu54Asp)
n.439G>T
 gnomAD v4
7g.151064355G>ACA370008036SLC4A2c.205G>A (p.Glu69Lys)
c.52-250G>A (n.52-250G>A)
c.178G>A (p.Glu60Lys)
c.163G>A (p.Glu55Lys)
n.440G>A
 gnomAD v4
7g.151064355G>CCA370008038SLC4A2c.205G>C (p.Glu69Gln)
c.52-250G>C (n.52-250G>C)
c.178G>C (p.Glu60Gln)
c.163G>C (p.Glu55Gln)
n.440G>C
7g.151064355G>TCA370008037SLC4A2c.205G>T (p.Glu69Ter)
c.52-250G>T (n.52-250G>T)
c.178G>T (p.Glu60Ter)
c.163G>T (p.Glu55Ter)
n.440G>T
7g.151064356A>CCA370008039SLC4A2c.206A>C (p.Glu69Ala)
c.52-249A>C (n.52-249A>C)
c.179A>C (p.Glu60Ala)
c.164A>C (p.Glu55Ala)
n.441A>C
 gnomAD v3 gnomAD v4
7g.151064356A>GCA370008041SLC4A2c.206A>G (p.Glu69Gly)
c.52-249A>G (n.52-249A>G)
c.179A>G (p.Glu60Gly)
c.164A>G (p.Glu55Gly)
n.441A>G
7g.151064356A>TCA370008040SLC4A2c.206A>T (p.Glu69Val)
c.52-249A>T (n.52-249A>T)
c.179A>T (p.Glu60Val)
c.164A>T (p.Glu55Val)
n.441A>T
7g.151064357A>CCA370008042SLC4A2c.207A>C (p.Glu69Asp)
c.52-248A>C (n.52-248A>C)
c.180A>C (p.Glu60Asp)
c.165A>C (p.Glu55Asp)
n.442A>C
7g.151064357A>GCA458875882SLC4A2c.207A>G (p.Glu69=)
c.52-248A>G (n.52-248A>G)
c.180A>G (p.Glu60=)
c.165A>G (p.Glu55=)
n.442A>G
7g.151064357A>TCA370008043SLC4A2c.207A>T (p.Glu69Asp)
c.52-248A>T (n.52-248A>T)
c.180A>T (p.Glu60Asp)
c.165A>T (p.Glu55Asp)
n.442A>T
7g.151064358G>ACA370008044SLC4A2c.208G>A (p.Asp70Asn)
c.52-247G>A (n.52-247G>A)
c.181G>A (p.Asp61Asn)
c.166G>A (p.Asp56Asn)
n.443G>A
7g.151064358G>CCA370008045SLC4A2c.208G>C (p.Asp70His)
c.52-247G>C (n.52-247G>C)
c.181G>C (p.Asp61His)
c.166G>C (p.Asp56His)
n.443G>C
7g.151064358G>TCA370008046SLC4A2c.208G>T (p.Asp70Tyr)
c.52-247G>T (n.52-247G>T)
c.181G>T (p.Asp61Tyr)
c.166G>T (p.Asp56Tyr)
n.443G>T
7g.151064359A=CA1752500355SLC4A2c.209A= (p.Asp70=)
c.52-246A= (n.52-246A=)
c.182A= (p.Asp61=)
c.167A= (p.Asp56=)
n.444A=
7g.151064359A>CCA370008047SLC4A2c.209A>C (p.Asp70Ala)
c.52-246A>C (n.52-246A>C)
c.182A>C (p.Asp61Ala)
c.167A>C (p.Asp56Ala)
n.444A>C
7g.151064359A>GCA370008048SLC4A2c.209A>G (p.Asp70Gly)
c.52-246A>G (n.52-246A>G)
c.182A>G (p.Asp61Gly)
c.167A>G (p.Asp56Gly)
n.444A>G
 dbSNP gnomAD v4
7g.151064359A>TCA370008049SLC4A2c.209A>T (p.Asp70Val)
c.52-246A>T (n.52-246A>T)
c.182A>T (p.Asp61Val)
c.167A>T (p.Asp56Val)
n.444A>T
7g.151064360C>ACA370008050SLC4A2c.210C>A (p.Asp70Glu)
c.52-245C>A (n.52-245C>A)
c.183C>A (p.Asp61Glu)
c.168C>A (p.Asp56Glu)
n.445C>A
 gnomAD v4
7g.151064360C>GCA370008051SLC4A2c.210C>G (p.Asp70Glu)
c.52-245C>G (n.52-245C>G)
c.183C>G (p.Asp61Glu)
c.168C>G (p.Asp56Glu)
n.445C>G
7g.151064360C>TCA458875883SLC4A2c.210C>T (p.Asp70=)
c.52-245C>T (n.52-245C>T)
c.183C>T (p.Asp61=)
c.168C>T (p.Asp56=)
n.445C>T

Number of alleles fetched