Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.4576585G>ACA372818282SLC1A1,SPATA6Lc.1015G>A (p.Val339Ile)
c.302G>A
c.*782-22197C>T (n.*782-22197C>T)
c.1084G>A (p.Val362Ile)
c.1024G>A (p.Val342Ile)
c.955G>A (p.Val319Ile)
c.874G>A (p.Val292Ile)
c.*1+27594C>T (n.*1+27594C>T)
c.976G>A (p.Val326Ile)
c.907G>A (p.Val303Ile)
n.1478+24068C>T
9g.4576585G>CCA4969214SLC1A1,SPATA6Lc.1015G>C (p.Val339Leu)
c.302G>C
c.*782-22197C>G (n.*782-22197C>G)
c.1084G>C (p.Val362Leu)
c.1024G>C (p.Val342Leu)
c.955G>C (p.Val319Leu)
c.874G>C (p.Val292Leu)
c.*1+27594C>G (n.*1+27594C>G)
c.976G>C (p.Val326Leu)
c.907G>C (p.Val303Leu)
n.1478+24068C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576585G=CA1829385453SLC1A1,SPATA6Lc.1015G= (p.Val339=)
c.302G=
c.*782-22197C= (n.*782-22197C=)
c.1084G= (p.Val362=)
c.1024G= (p.Val342=)
c.955G= (p.Val319=)
c.874G= (p.Val292=)
c.*1+27594C= (n.*1+27594C=)
c.976G= (p.Val326=)
c.907G= (p.Val303=)
n.1478+24068C=
9g.4576585G>TCA372818283SLC1A1,SPATA6Lc.1015G>T (p.Val339Phe)
c.302G>T
c.*782-22197C>A (n.*782-22197C>A)
c.1084G>T (p.Val362Phe)
c.1024G>T (p.Val342Phe)
c.955G>T (p.Val319Phe)
c.874G>T (p.Val292Phe)
c.*1+27594C>A (n.*1+27594C>A)
c.976G>T (p.Val326Phe)
c.907G>T (p.Val303Phe)
n.1478+24068C>A
 gnomAD v4
9g.4576586T>ACA372818286SLC1A1,SPATA6Lc.1016T>A (p.Val339Asp)
c.303T>A
c.*782-22198A>T (n.*782-22198A>T)
c.1085T>A (p.Val362Asp)
c.1025T>A (p.Val342Asp)
c.956T>A (p.Val319Asp)
c.875T>A (p.Val292Asp)
c.*1+27593A>T (n.*1+27593A>T)
c.977T>A (p.Val326Asp)
c.908T>A (p.Val303Asp)
n.1478+24067A>T
9g.4576586T>CCA372818287SLC1A1,SPATA6Lc.1016T>C (p.Val339Ala)
c.303T>C
c.*782-22198A>G (n.*782-22198A>G)
c.1085T>C (p.Val362Ala)
c.1025T>C (p.Val342Ala)
c.956T>C (p.Val319Ala)
c.875T>C (p.Val292Ala)
c.*1+27593A>G (n.*1+27593A>G)
c.977T>C (p.Val326Ala)
c.908T>C (p.Val303Ala)
n.1478+24067A>G
 dbSNP gnomAD v2 gnomAD v4
9g.4576586T>GCA372818289SLC1A1,SPATA6Lc.1016T>G (p.Val339Gly)
c.303T>G
c.*782-22198A>C (n.*782-22198A>C)
c.1085T>G (p.Val362Gly)
c.1025T>G (p.Val342Gly)
c.956T>G (p.Val319Gly)
c.875T>G (p.Val292Gly)
c.*1+27593A>C (n.*1+27593A>C)
c.977T>G (p.Val326Gly)
c.908T>G (p.Val303Gly)
n.1478+24067A>C
9g.4576586T=CA1829385455SLC1A1,SPATA6Lc.1016T= (p.Val339=)
c.303T=
c.*782-22198A= (n.*782-22198A=)
c.1085T= (p.Val362=)
c.1025T= (p.Val342=)
c.956T= (p.Val319=)
c.875T= (p.Val292=)
c.*1+27593A= (n.*1+27593A=)
c.977T= (p.Val326=)
c.908T= (p.Val303=)
n.1478+24067A=
9g.4576587C>ACA463728318SLC1A1,SPATA6Lc.1017C>A (p.Val339=)
c.304C>A
c.*782-22199G>T (n.*782-22199G>T)
c.1086C>A (p.Val362=)
c.1026C>A (p.Val342=)
c.957C>A (p.Val319=)
c.876C>A (p.Val292=)
c.*1+27592G>T (n.*1+27592G>T)
c.978C>A (p.Val326=)
c.909C>A (p.Val303=)
n.1478+24066G>T
 gnomAD v4
9g.4576587C>GCA463728319SLC1A1,SPATA6Lc.1017C>G (p.Val339=)
c.304C>G
c.*782-22199G>C (n.*782-22199G>C)
c.1086C>G (p.Val362=)
c.1026C>G (p.Val342=)
c.957C>G (p.Val319=)
c.876C>G (p.Val292=)
c.*1+27592G>C (n.*1+27592G>C)
c.978C>G (p.Val326=)
c.909C>G (p.Val303=)
n.1478+24066G>C
9g.4576587C>TCA463728320SLC1A1,SPATA6Lc.1017C>T (p.Val339=)
c.304C>T
c.*782-22199G>A (n.*782-22199G>A)
c.1086C>T (p.Val362=)
c.1026C>T (p.Val342=)
c.957C>T (p.Val319=)
c.876C>T (p.Val292=)
c.*1+27592G>A (n.*1+27592G>A)
c.978C>T (p.Val326=)
c.909C>T (p.Val303=)
n.1478+24066G>A
9g.4576588A>CCA372818295SLC1A1,SPATA6Lc.1018A>C (p.Thr340Pro)
c.305A>C
c.*782-22200T>G (n.*782-22200T>G)
c.1087A>C (p.Thr363Pro)
c.1027A>C (p.Thr343Pro)
c.958A>C (p.Thr320Pro)
c.877A>C (p.Thr293Pro)
c.*1+27591T>G (n.*1+27591T>G)
c.979A>C (p.Thr327Pro)
c.910A>C (p.Thr304Pro)
n.1478+24065T>G
9g.4576588A>GCA372818292SLC1A1,SPATA6Lc.1018A>G (p.Thr340Ala)
c.305A>G
c.*782-22200T>C (n.*782-22200T>C)
c.1087A>G (p.Thr363Ala)
c.1027A>G (p.Thr343Ala)
c.958A>G (p.Thr320Ala)
c.877A>G (p.Thr293Ala)
c.*1+27591T>C (n.*1+27591T>C)
c.979A>G (p.Thr327Ala)
c.910A>G (p.Thr304Ala)
n.1478+24065T>C
9g.4576588A>TCA372818293SLC1A1,SPATA6Lc.1018A>T (p.Thr340Ser)
c.305A>T
c.*782-22200T>A (n.*782-22200T>A)
c.1087A>T (p.Thr363Ser)
c.1027A>T (p.Thr343Ser)
c.958A>T (p.Thr320Ser)
c.877A>T (p.Thr293Ser)
c.*1+27591T>A (n.*1+27591T>A)
c.979A>T (p.Thr327Ser)
c.910A>T (p.Thr304Ser)
n.1478+24065T>A
9g.4576589C>ACA372818298SLC1A1,SPATA6Lc.1019C>A (p.Thr340Asn)
c.306C>A
c.*782-22201G>T (n.*782-22201G>T)
c.1088C>A (p.Thr363Asn)
c.1028C>A (p.Thr343Asn)
c.959C>A (p.Thr320Asn)
c.878C>A (p.Thr293Asn)
c.*1+27590G>T (n.*1+27590G>T)
c.980C>A (p.Thr327Asn)
c.911C>A (p.Thr304Asn)
n.1478+24064G>T
9g.4576589C=CA1829385456SLC1A1,SPATA6Lc.1019C= (p.Thr340=)
c.306C=
c.*782-22201G= (n.*782-22201G=)
c.1088C= (p.Thr363=)
c.1028C= (p.Thr343=)
c.959C= (p.Thr320=)
c.878C= (p.Thr293=)
c.*1+27590G= (n.*1+27590G=)
c.980C= (p.Thr327=)
c.911C= (p.Thr304=)
n.1478+24064G=
9g.4576589C>GCA372818299SLC1A1,SPATA6Lc.1019C>G (p.Thr340Ser)
c.306C>G
c.*782-22201G>C (n.*782-22201G>C)
c.1088C>G (p.Thr363Ser)
c.1028C>G (p.Thr343Ser)
c.959C>G (p.Thr320Ser)
c.878C>G (p.Thr293Ser)
c.*1+27590G>C (n.*1+27590G>C)
c.980C>G (p.Thr327Ser)
c.911C>G (p.Thr304Ser)
n.1478+24064G>C
9g.4576589C>TCA372818300SLC1A1,SPATA6Lc.1019C>T (p.Thr340Ile)
c.306C>T
c.*782-22201G>A (n.*782-22201G>A)
c.1088C>T (p.Thr363Ile)
c.1028C>T (p.Thr343Ile)
c.959C>T (p.Thr320Ile)
c.878C>T (p.Thr293Ile)
c.*1+27590G>A (n.*1+27590G>A)
c.980C>T (p.Thr327Ile)
c.911C>T (p.Thr304Ile)
n.1478+24064G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.4576590C>ACA463728325SLC1A1,SPATA6Lc.1020C>A (p.Thr340=)
c.307C>A
c.*782-22202G>T (n.*782-22202G>T)
c.1089C>A (p.Thr363=)
c.1029C>A (p.Thr343=)
c.960C>A (p.Thr320=)
c.879C>A (p.Thr293=)
c.*1+27589G>T (n.*1+27589G>T)
c.981C>A (p.Thr327=)
c.912C>A (p.Thr304=)
n.1478+24063G>T
9g.4576590C>GCA463728328SLC1A1,SPATA6Lc.1020C>G (p.Thr340=)
c.307C>G
c.*782-22202G>C (n.*782-22202G>C)
c.1089C>G (p.Thr363=)
c.1029C>G (p.Thr343=)
c.960C>G (p.Thr320=)
c.879C>G (p.Thr293=)
c.*1+27589G>C (n.*1+27589G>C)
c.981C>G (p.Thr327=)
c.912C>G (p.Thr304=)
n.1478+24063G>C
9g.4576590C>TCA463728326SLC1A1,SPATA6Lc.1020C>T (p.Thr340=)
c.307C>T
c.*782-22202G>A (n.*782-22202G>A)
c.1089C>T (p.Thr363=)
c.1029C>T (p.Thr343=)
c.960C>T (p.Thr320=)
c.879C>T (p.Thr293=)
c.*1+27589G>A (n.*1+27589G>A)
c.981C>T (p.Thr327=)
c.912C>T (p.Thr304=)
n.1478+24063G>A
 gnomAD v4
9g.4576591T>ACA372818301SLC1A1,SPATA6Lc.1021T>A (p.Phe341Ile)
c.308T>A
c.*782-22203A>T (n.*782-22203A>T)
c.1090T>A (p.Phe364Ile)
c.1030T>A (p.Phe344Ile)
c.961T>A (p.Phe321Ile)
c.880T>A (p.Phe294Ile)
c.*1+27588A>T (n.*1+27588A>T)
c.982T>A (p.Phe328Ile)
c.913T>A (p.Phe305Ile)
n.1478+24062A>T
 gnomAD v4
9g.4576591T>CCA372818302SLC1A1,SPATA6Lc.1021T>C (p.Phe341Leu)
c.308T>C
c.*782-22203A>G (n.*782-22203A>G)
c.1090T>C (p.Phe364Leu)
c.1030T>C (p.Phe344Leu)
c.961T>C (p.Phe321Leu)
c.880T>C (p.Phe294Leu)
c.*1+27588A>G (n.*1+27588A>G)
c.982T>C (p.Phe328Leu)
c.913T>C (p.Phe305Leu)
n.1478+24062A>G
9g.4576591T>GCA372818303SLC1A1,SPATA6Lc.1021T>G (p.Phe341Val)
c.308T>G
c.*782-22203A>C (n.*782-22203A>C)
c.1090T>G (p.Phe364Val)
c.1030T>G (p.Phe344Val)
c.961T>G (p.Phe321Val)
c.880T>G (p.Phe294Val)
c.*1+27588A>C (n.*1+27588A>C)
c.982T>G (p.Phe328Val)
c.913T>G (p.Phe305Val)
n.1478+24062A>C
9g.4576592T>ACA372818304SLC1A1,SPATA6Lc.1022T>A (p.Phe341Tyr)
c.309T>A
c.*782-22204A>T (n.*782-22204A>T)
c.1091T>A (p.Phe364Tyr)
c.1031T>A (p.Phe344Tyr)
c.962T>A (p.Phe321Tyr)
c.881T>A (p.Phe294Tyr)
c.*1+27587A>T (n.*1+27587A>T)
c.983T>A (p.Phe328Tyr)
c.914T>A (p.Phe305Tyr)
n.1478+24061A>T
9g.4576592T>CCA372818305SLC1A1,SPATA6Lc.1022T>C (p.Phe341Ser)
c.309T>C
c.*782-22204A>G (n.*782-22204A>G)
c.1091T>C (p.Phe364Ser)
c.1031T>C (p.Phe344Ser)
c.962T>C (p.Phe321Ser)
c.881T>C (p.Phe294Ser)
c.*1+27587A>G (n.*1+27587A>G)
c.983T>C (p.Phe328Ser)
c.914T>C (p.Phe305Ser)
n.1478+24061A>G
9g.4576592T>GCA372818306SLC1A1,SPATA6Lc.1022T>G (p.Phe341Cys)
c.309T>G
c.*782-22204A>C (n.*782-22204A>C)
c.1091T>G (p.Phe364Cys)
c.1031T>G (p.Phe344Cys)
c.962T>G (p.Phe321Cys)
c.881T>G (p.Phe294Cys)
c.*1+27587A>C (n.*1+27587A>C)
c.983T>G (p.Phe328Cys)
c.914T>G (p.Phe305Cys)
n.1478+24061A>C
9g.4576593C>ACA372818307SLC1A1,SPATA6Lc.1023C>A (p.Phe341Leu)
c.310C>A
c.*782-22205G>T (n.*782-22205G>T)
c.1092C>A (p.Phe364Leu)
c.1032C>A (p.Phe344Leu)
c.963C>A (p.Phe321Leu)
c.882C>A (p.Phe294Leu)
c.*1+27586G>T (n.*1+27586G>T)
c.984C>A (p.Phe328Leu)
c.915C>A (p.Phe305Leu)
n.1478+24060G>T
 dbSNP gnomAD v3 gnomAD v4
9g.4576593C=CA1829385459SLC1A1,SPATA6Lc.1023C= (p.Phe341=)
c.310C=
c.*782-22205G= (n.*782-22205G=)
c.1092C= (p.Phe364=)
c.1032C= (p.Phe344=)
c.963C= (p.Phe321=)
c.882C= (p.Phe294=)
c.*1+27586G= (n.*1+27586G=)
c.984C= (p.Phe328=)
c.915C= (p.Phe305=)
n.1478+24060G=
9g.4576593C>GCA372818308SLC1A1,SPATA6Lc.1023C>G (p.Phe341Leu)
c.310C>G
c.*782-22205G>C (n.*782-22205G>C)
c.1092C>G (p.Phe364Leu)
c.1032C>G (p.Phe344Leu)
c.963C>G (p.Phe321Leu)
c.882C>G (p.Phe294Leu)
c.*1+27586G>C (n.*1+27586G>C)
c.984C>G (p.Phe328Leu)
c.915C>G (p.Phe305Leu)
n.1478+24060G>C
9g.4576593C>TCA463728336SLC1A1,SPATA6Lc.1023C>T (p.Phe341=)
c.310C>T
c.*782-22205G>A (n.*782-22205G>A)
c.1092C>T (p.Phe364=)
c.1032C>T (p.Phe344=)
c.963C>T (p.Phe321=)
c.882C>T (p.Phe294=)
c.*1+27586G>A (n.*1+27586G>A)
c.984C>T (p.Phe328=)
c.915C>T (p.Phe305=)
n.1478+24060G>A
 gnomAD v4
9g.4576594C>ACA372818310SLC1A1,SPATA6Lc.1024C>A (p.Arg342Ser)
c.311C>A
c.*782-22206G>T (n.*782-22206G>T)
c.1093C>A (p.Arg365Ser)
c.1033C>A (p.Arg345Ser)
c.964C>A (p.Arg322Ser)
c.883C>A (p.Arg295Ser)
c.*1+27585G>T (n.*1+27585G>T)
c.985C>A (p.Arg329Ser)
c.916C>A (p.Arg306Ser)
n.1478+24059G>T
9g.4576594C=CA1829385462SLC1A1,SPATA6Lc.1024C= (p.Arg342=)
c.311C=
c.*782-22206G= (n.*782-22206G=)
c.1093C= (p.Arg365=)
c.1033C= (p.Arg345=)
c.964C= (p.Arg322=)
c.883C= (p.Arg295=)
c.*1+27585G= (n.*1+27585G=)
c.985C= (p.Arg329=)
c.916C= (p.Arg306=)
n.1478+24059G=
9g.4576594C>GCA372818309SLC1A1,SPATA6Lc.1024C>G (p.Arg342Gly)
c.311C>G
c.*782-22206G>C (n.*782-22206G>C)
c.1093C>G (p.Arg365Gly)
c.1033C>G (p.Arg345Gly)
c.964C>G (p.Arg322Gly)
c.883C>G (p.Arg295Gly)
c.*1+27585G>C (n.*1+27585G>C)
c.985C>G (p.Arg329Gly)
c.916C>G (p.Arg306Gly)
n.1478+24059G>C
9g.4576594C>TCA4969215SLC1A1,SPATA6Lc.1024C>T (p.Arg342Cys)
c.311C>T
c.*782-22206G>A (n.*782-22206G>A)
c.1093C>T (p.Arg365Cys)
c.1033C>T (p.Arg345Cys)
c.964C>T (p.Arg322Cys)
c.883C>T (p.Arg295Cys)
c.*1+27585G>A (n.*1+27585G>A)
c.985C>T (p.Arg329Cys)
c.916C>T (p.Arg306Cys)
n.1478+24059G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
9g.4576595G>ACA4969216SLC1A1,SPATA6Lc.1025G>A (p.Arg342His)
c.312G>A
c.*782-22207C>T (n.*782-22207C>T)
c.1094G>A (p.Arg365His)
c.1034G>A (p.Arg345His)
c.965G>A (p.Arg322His)
c.884G>A (p.Arg295His)
c.*1+27584C>T (n.*1+27584C>T)
c.986G>A (p.Arg329His)
c.917G>A (p.Arg306His)
n.1478+24058C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576595G>CCA372818312SLC1A1,SPATA6Lc.1025G>C (p.Arg342Pro)
c.312G>C
c.*782-22207C>G (n.*782-22207C>G)
c.1094G>C (p.Arg365Pro)
c.1034G>C (p.Arg345Pro)
c.965G>C (p.Arg322Pro)
c.884G>C (p.Arg295Pro)
c.*1+27584C>G (n.*1+27584C>G)
c.986G>C (p.Arg329Pro)
c.917G>C (p.Arg306Pro)
n.1478+24058C>G
9g.4576595G=CA1829385463SLC1A1,SPATA6Lc.1025G= (p.Arg342=)
c.312G=
c.*782-22207C= (n.*782-22207C=)
c.1094G= (p.Arg365=)
c.1034G= (p.Arg345=)
c.965G= (p.Arg322=)
c.884G= (p.Arg295=)
c.*1+27584C= (n.*1+27584C=)
c.986G= (p.Arg329=)
c.917G= (p.Arg306=)
n.1478+24058C=
9g.4576595G>TCA372818311SLC1A1,SPATA6Lc.1025G>T (p.Arg342Leu)
c.312G>T
c.*782-22207C>A (n.*782-22207C>A)
c.1094G>T (p.Arg365Leu)
c.1034G>T (p.Arg345Leu)
c.965G>T (p.Arg322Leu)
c.884G>T (p.Arg295Leu)
c.*1+27584C>A (n.*1+27584C>A)
c.986G>T (p.Arg329Leu)
c.917G>T (p.Arg306Leu)
n.1478+24058C>A
9g.4576596C>ACA463728344SLC1A1,SPATA6Lc.1026C>A (p.Arg342=)
c.313C>A
c.*782-22208G>T (n.*782-22208G>T)
c.1095C>A (p.Arg365=)
c.1035C>A (p.Arg345=)
c.966C>A (p.Arg322=)
c.885C>A (p.Arg295=)
c.*1+27583G>T (n.*1+27583G>T)
c.987C>A (p.Arg329=)
c.918C>A (p.Arg306=)
n.1478+24057G>T
9g.4576596C>GCA463728346SLC1A1,SPATA6Lc.1026C>G (p.Arg342=)
c.313C>G
c.*782-22208G>C (n.*782-22208G>C)
c.1095C>G (p.Arg365=)
c.1035C>G (p.Arg345=)
c.966C>G (p.Arg322=)
c.885C>G (p.Arg295=)
c.*1+27583G>C (n.*1+27583G>C)
c.987C>G (p.Arg329=)
c.918C>G (p.Arg306=)
n.1478+24057G>C
9g.4576596C>TCA463728347SLC1A1,SPATA6Lc.1026C>T (p.Arg342=)
c.313C>T
c.*782-22208G>A (n.*782-22208G>A)
c.1095C>T (p.Arg365=)
c.1035C>T (p.Arg345=)
c.966C>T (p.Arg322=)
c.885C>T (p.Arg295=)
c.*1+27583G>A (n.*1+27583G>A)
c.987C>T (p.Arg329=)
c.918C>T (p.Arg306=)
n.1478+24057G>A
9g.4576597T>ACA372818313SLC1A1,SPATA6Lc.1027T>A (p.Cys343Ser)
c.314T>A
c.*782-22209A>T (n.*782-22209A>T)
c.1096T>A (p.Cys366Ser)
c.1036T>A (p.Cys346Ser)
c.967T>A (p.Cys323Ser)
c.886T>A (p.Cys296Ser)
c.*1+27582A>T (n.*1+27582A>T)
c.988T>A (p.Cys330Ser)
c.919T>A (p.Cys307Ser)
n.1478+24056A>T
9g.4576597T>CCA372818315SLC1A1,SPATA6Lc.1027T>C (p.Cys343Arg)
c.314T>C
c.*782-22209A>G (n.*782-22209A>G)
c.1096T>C (p.Cys366Arg)
c.1036T>C (p.Cys346Arg)
c.967T>C (p.Cys323Arg)
c.886T>C (p.Cys296Arg)
c.*1+27582A>G (n.*1+27582A>G)
c.988T>C (p.Cys330Arg)
c.919T>C (p.Cys307Arg)
n.1478+24056A>G
9g.4576597T>GCA372818314SLC1A1,SPATA6Lc.1027T>G (p.Cys343Gly)
c.314T>G
c.*782-22209A>C (n.*782-22209A>C)
c.1096T>G (p.Cys366Gly)
c.1036T>G (p.Cys346Gly)
c.967T>G (p.Cys323Gly)
c.886T>G (p.Cys296Gly)
c.*1+27582A>C (n.*1+27582A>C)
c.988T>G (p.Cys330Gly)
c.919T>G (p.Cys307Gly)
n.1478+24056A>C
9g.4576598G>ACA372818316SLC1A1,SPATA6Lc.1028G>A (p.Cys343Tyr)
c.315G>A
c.*782-22210C>T (n.*782-22210C>T)
c.1097G>A (p.Cys366Tyr)
c.1037G>A (p.Cys346Tyr)
c.968G>A (p.Cys323Tyr)
c.887G>A (p.Cys296Tyr)
c.*1+27581C>T (n.*1+27581C>T)
c.989G>A (p.Cys330Tyr)
c.920G>A (p.Cys307Tyr)
n.1478+24055C>T
9g.4576598G>CCA372818318SLC1A1,SPATA6Lc.1028G>C (p.Cys343Ser)
c.315G>C
c.*782-22210C>G (n.*782-22210C>G)
c.1097G>C (p.Cys366Ser)
c.1037G>C (p.Cys346Ser)
c.968G>C (p.Cys323Ser)
c.887G>C (p.Cys296Ser)
c.*1+27581C>G (n.*1+27581C>G)
c.989G>C (p.Cys330Ser)
c.920G>C (p.Cys307Ser)
n.1478+24055C>G
9g.4576598G=CA1829385464SLC1A1,SPATA6Lc.1028G= (p.Cys343=)
c.315G=
c.*782-22210C= (n.*782-22210C=)
c.1097G= (p.Cys366=)
c.1037G= (p.Cys346=)
c.968G= (p.Cys323=)
c.887G= (p.Cys296=)
c.*1+27581C= (n.*1+27581C=)
c.989G= (p.Cys330=)
c.920G= (p.Cys307=)
n.1478+24055C=
9g.4576598G>TCA372818317SLC1A1,SPATA6Lc.1028G>T (p.Cys343Phe)
c.315G>T
c.*782-22210C>A (n.*782-22210C>A)
c.1097G>T (p.Cys366Phe)
c.1037G>T (p.Cys346Phe)
c.968G>T (p.Cys323Phe)
c.887G>T (p.Cys296Phe)
c.*1+27581C>A (n.*1+27581C>A)
c.989G>T (p.Cys330Phe)
c.920G>T (p.Cys307Phe)
n.1478+24055C>A
 dbSNP gnomAD v4
9g.4576599T>ACA372818319SLC1A1,SPATA6Lc.1029T>A (p.Cys343Ter)
c.316T>A
c.*782-22211A>T (n.*782-22211A>T)
c.1098T>A (p.Cys366Ter)
c.1038T>A (p.Cys346Ter)
c.969T>A (p.Cys323Ter)
c.888T>A (p.Cys296Ter)
c.*1+27580A>T (n.*1+27580A>T)
c.990T>A (p.Cys330Ter)
c.921T>A (p.Cys307Ter)
n.1478+24054A>T
9g.4576599T>CCA463728357SLC1A1,SPATA6Lc.1029T>C (p.Cys343=)
c.316T>C
c.*782-22211A>G (n.*782-22211A>G)
c.1098T>C (p.Cys366=)
c.1038T>C (p.Cys346=)
c.969T>C (p.Cys323=)
c.888T>C (p.Cys296=)
c.*1+27580A>G (n.*1+27580A>G)
c.990T>C (p.Cys330=)
c.921T>C (p.Cys307=)
n.1478+24054A>G
9g.4576599T>GCA372818320SLC1A1,SPATA6Lc.1029T>G (p.Cys343Trp)
c.316T>G
c.*782-22211A>C (n.*782-22211A>C)
c.1098T>G (p.Cys366Trp)
c.1038T>G (p.Cys346Trp)
c.969T>G (p.Cys323Trp)
c.888T>G (p.Cys296Trp)
c.*1+27580A>C (n.*1+27580A>C)
c.990T>G (p.Cys330Trp)
c.921T>G (p.Cys307Trp)
n.1478+24054A>C
9g.4576600G>ACA372818321SLC1A1,SPATA6Lc.1030G>A (p.Ala344Thr)
c.317G>A
c.*782-22212C>T (n.*782-22212C>T)
c.1099G>A (p.Ala367Thr)
c.1039G>A (p.Ala347Thr)
c.970G>A (p.Ala324Thr)
c.889G>A (p.Ala297Thr)
c.*1+27579C>T (n.*1+27579C>T)
c.991G>A (p.Ala331Thr)
c.922G>A (p.Ala308Thr)
n.1478+24053C>T
9g.4576600G>CCA372818322SLC1A1,SPATA6Lc.1030G>C (p.Ala344Pro)
c.317G>C
c.*782-22212C>G (n.*782-22212C>G)
c.1099G>C (p.Ala367Pro)
c.1039G>C (p.Ala347Pro)
c.970G>C (p.Ala324Pro)
c.889G>C (p.Ala297Pro)
c.*1+27579C>G (n.*1+27579C>G)
c.991G>C (p.Ala331Pro)
c.922G>C (p.Ala308Pro)
n.1478+24053C>G
 dbSNP gnomAD v2 gnomAD v4
9g.4576600G=CA1829385465SLC1A1,SPATA6Lc.1030G= (p.Ala344=)
c.317G=
c.*782-22212C= (n.*782-22212C=)
c.1099G= (p.Ala367=)
c.1039G= (p.Ala347=)
c.970G= (p.Ala324=)
c.889G= (p.Ala297=)
c.*1+27579C= (n.*1+27579C=)
c.991G= (p.Ala331=)
c.922G= (p.Ala308=)
n.1478+24053C=
9g.4576600G>TCA372818323SLC1A1,SPATA6Lc.1030G>T (p.Ala344Ser)
c.317G>T
c.*782-22212C>A (n.*782-22212C>A)
c.1099G>T (p.Ala367Ser)
c.1039G>T (p.Ala347Ser)
c.970G>T (p.Ala324Ser)
c.889G>T (p.Ala297Ser)
c.*1+27579C>A (n.*1+27579C>A)
c.991G>T (p.Ala331Ser)
c.922G>T (p.Ala308Ser)
n.1478+24053C>A
9g.4576601C>ACA372818324SLC1A1,SPATA6Lc.1031C>A (p.Ala344Asp)
c.318C>A
c.*782-22213G>T (n.*782-22213G>T)
c.1100C>A (p.Ala367Asp)
c.1040C>A (p.Ala347Asp)
c.971C>A (p.Ala324Asp)
c.890C>A (p.Ala297Asp)
c.*1+27578G>T (n.*1+27578G>T)
c.992C>A (p.Ala331Asp)
c.923C>A (p.Ala308Asp)
n.1478+24052G>T
9g.4576601C>GCA372818325SLC1A1,SPATA6Lc.1031C>G (p.Ala344Gly)
c.318C>G
c.*782-22213G>C (n.*782-22213G>C)
c.1100C>G (p.Ala367Gly)
c.1040C>G (p.Ala347Gly)
c.971C>G (p.Ala324Gly)
c.890C>G (p.Ala297Gly)
c.*1+27578G>C (n.*1+27578G>C)
c.992C>G (p.Ala331Gly)
c.923C>G (p.Ala308Gly)
n.1478+24052G>C
9g.4576601C>TCA372818326SLC1A1,SPATA6Lc.1031C>T (p.Ala344Val)
c.318C>T
c.*782-22213G>A (n.*782-22213G>A)
c.1100C>T (p.Ala367Val)
c.1040C>T (p.Ala347Val)
c.971C>T (p.Ala324Val)
c.890C>T (p.Ala297Val)
c.*1+27578G>A (n.*1+27578G>A)
c.992C>T (p.Ala331Val)
c.923C>T (p.Ala308Val)
n.1478+24052G>A
 dbSNP
9g.4576602T>ACA463728370SLC1A1,SPATA6Lc.1032T>A (p.Ala344=)
c.319T>A
c.*782-22214A>T (n.*782-22214A>T)
c.1101T>A (p.Ala367=)
c.1041T>A (p.Ala347=)
c.972T>A (p.Ala324=)
c.891T>A (p.Ala297=)
c.*1+27577A>T (n.*1+27577A>T)
c.993T>A (p.Ala331=)
c.924T>A (p.Ala308=)
n.1478+24051A>T
9g.4576602T>CCA463728371SLC1A1,SPATA6Lc.1032T>C (p.Ala344=)
c.319T>C
c.*782-22214A>G (n.*782-22214A>G)
c.1101T>C (p.Ala367=)
c.1041T>C (p.Ala347=)
c.972T>C (p.Ala324=)
c.891T>C (p.Ala297=)
c.*1+27577A>G (n.*1+27577A>G)
c.993T>C (p.Ala331=)
c.924T>C (p.Ala308=)
n.1478+24051A>G
9g.4576602T>GCA463728373SLC1A1,SPATA6Lc.1032T>G (p.Ala344=)
c.319T>G
c.*782-22214A>C (n.*782-22214A>C)
c.1101T>G (p.Ala367=)
c.1041T>G (p.Ala347=)
c.972T>G (p.Ala324=)
c.891T>G (p.Ala297=)
c.*1+27577A>C (n.*1+27577A>C)
c.993T>G (p.Ala331=)
c.924T>G (p.Ala308=)
n.1478+24051A>C
9g.4576603G>ACA372818327SLC1A1,SPATA6Lc.1033G>A (p.Glu345Lys)
c.320G>A
c.*782-22215C>T (n.*782-22215C>T)
c.1102G>A (p.Glu368Lys)
c.1042G>A (p.Glu348Lys)
c.973G>A (p.Glu325Lys)
c.892G>A (p.Glu298Lys)
c.*1+27576C>T (n.*1+27576C>T)
c.994G>A (p.Glu332Lys)
c.925G>A (p.Glu309Lys)
n.1478+24050C>T
 gnomAD v4 COSMIC
9g.4576603G>CCA372818328SLC1A1,SPATA6Lc.1033G>C (p.Glu345Gln)
c.320G>C
c.*782-22215C>G (n.*782-22215C>G)
c.1102G>C (p.Glu368Gln)
c.1042G>C (p.Glu348Gln)
c.973G>C (p.Glu325Gln)
c.892G>C (p.Glu298Gln)
c.*1+27576C>G (n.*1+27576C>G)
c.994G>C (p.Glu332Gln)
c.925G>C (p.Glu309Gln)
n.1478+24050C>G
9g.4576603G=CA1829385466SLC1A1,SPATA6Lc.1033G= (p.Glu345=)
c.320G=
c.*782-22215C= (n.*782-22215C=)
c.1102G= (p.Glu368=)
c.1042G= (p.Glu348=)
c.973G= (p.Glu325=)
c.892G= (p.Glu298=)
c.*1+27576C= (n.*1+27576C=)
c.994G= (p.Glu332=)
c.925G= (p.Glu309=)
n.1478+24050C=
9g.4576603G>TCA372818329SLC1A1,SPATA6Lc.1033G>T (p.Glu345Ter)
c.320G>T
c.*782-22215C>A (n.*782-22215C>A)
c.1102G>T (p.Glu368Ter)
c.1042G>T (p.Glu348Ter)
c.973G>T (p.Glu325Ter)
c.892G>T (p.Glu298Ter)
c.*1+27576C>A (n.*1+27576C>A)
c.994G>T (p.Glu332Ter)
c.925G>T (p.Glu309Ter)
n.1478+24050C>A
 dbSNP gnomAD v3 gnomAD v4
9g.4576604A>CCA372818330SLC1A1,SPATA6Lc.1034A>C (p.Glu345Ala)
c.321A>C
c.*782-22216T>G (n.*782-22216T>G)
c.1103A>C (p.Glu368Ala)
c.1043A>C (p.Glu348Ala)
c.974A>C (p.Glu325Ala)
c.893A>C (p.Glu298Ala)
c.*1+27575T>G (n.*1+27575T>G)
c.995A>C (p.Glu332Ala)
c.926A>C (p.Glu309Ala)
n.1478+24049T>G
9g.4576604A>GCA372818331SLC1A1,SPATA6Lc.1034A>G (p.Glu345Gly)
c.321A>G
c.*782-22216T>C (n.*782-22216T>C)
c.1103A>G (p.Glu368Gly)
c.1043A>G (p.Glu348Gly)
c.974A>G (p.Glu325Gly)
c.893A>G (p.Glu298Gly)
c.*1+27575T>C (n.*1+27575T>C)
c.995A>G (p.Glu332Gly)
c.926A>G (p.Glu309Gly)
n.1478+24049T>C
9g.4576604A>TCA372818332SLC1A1,SPATA6Lc.1034A>T (p.Glu345Val)
c.321A>T
c.*782-22216T>A (n.*782-22216T>A)
c.1103A>T (p.Glu368Val)
c.1043A>T (p.Glu348Val)
c.974A>T (p.Glu325Val)
c.893A>T (p.Glu298Val)
c.*1+27575T>A (n.*1+27575T>A)
c.995A>T (p.Glu332Val)
c.926A>T (p.Glu309Val)
n.1478+24049T>A
9g.4576605A>CCA372818333SLC1A1,SPATA6Lc.1035A>C (p.Glu345Asp)
c.322A>C
c.*782-22217T>G (n.*782-22217T>G)
c.1104A>C (p.Glu368Asp)
c.1044A>C (p.Glu348Asp)
c.975A>C (p.Glu325Asp)
c.894A>C (p.Glu298Asp)
c.*1+27574T>G (n.*1+27574T>G)
c.996A>C (p.Glu332Asp)
c.927A>C (p.Glu309Asp)
n.1478+24048T>G
9g.4576605A>GCA463728384SLC1A1,SPATA6Lc.1035A>G (p.Glu345=)
c.322A>G
c.*782-22217T>C (n.*782-22217T>C)
c.1104A>G (p.Glu368=)
c.1044A>G (p.Glu348=)
c.975A>G (p.Glu325=)
c.894A>G (p.Glu298=)
c.*1+27574T>C (n.*1+27574T>C)
c.996A>G (p.Glu332=)
c.927A>G (p.Glu309=)
n.1478+24048T>C
9g.4576605A>TCA372818334SLC1A1,SPATA6Lc.1035A>T (p.Glu345Asp)
c.322A>T
c.*782-22217T>A (n.*782-22217T>A)
c.1104A>T (p.Glu368Asp)
c.1044A>T (p.Glu348Asp)
c.975A>T (p.Glu325Asp)
c.894A>T (p.Glu298Asp)
c.*1+27574T>A (n.*1+27574T>A)
c.996A>T (p.Glu332Asp)
c.927A>T (p.Glu309Asp)
n.1478+24048T>A
9g.4576606G>ACA372818335SLC1A1,SPATA6Lc.1036G>A (p.Glu346Lys)
c.323G>A
c.*782-22218C>T (n.*782-22218C>T)
c.1105G>A (p.Glu369Lys)
c.1045G>A (p.Glu349Lys)
c.976G>A (p.Glu326Lys)
c.895G>A (p.Glu299Lys)
c.*1+27573C>T (n.*1+27573C>T)
c.997G>A (p.Glu333Lys)
c.928G>A (p.Glu310Lys)
n.1478+24047C>T
 gnomAD v4
9g.4576606G>CCA188358943SLC1A1,SPATA6Lc.1036G>C (p.Glu346Gln)
c.323G>C
c.*782-22218C>G (n.*782-22218C>G)
c.1105G>C (p.Glu369Gln)
c.1045G>C (p.Glu349Gln)
c.976G>C (p.Glu326Gln)
c.895G>C (p.Glu299Gln)
c.*1+27573C>G (n.*1+27573C>G)
c.997G>C (p.Glu333Gln)
c.928G>C (p.Glu310Gln)
n.1478+24047C>G
 dbSNP gnomAD v4
9g.4576606G=CA1829385467SLC1A1,SPATA6Lc.1036G= (p.Glu346=)
c.323G=
c.*782-22218C= (n.*782-22218C=)
c.1105G= (p.Glu369=)
c.1045G= (p.Glu349=)
c.976G= (p.Glu326=)
c.895G= (p.Glu299=)
c.*1+27573C= (n.*1+27573C=)
c.997G= (p.Glu333=)
c.928G= (p.Glu310=)
n.1478+24047C=
9g.4576606G>TCA372818336SLC1A1,SPATA6Lc.1036G>T (p.Glu346Ter)
c.323G>T
c.*782-22218C>A (n.*782-22218C>A)
c.1105G>T (p.Glu369Ter)
c.1045G>T (p.Glu349Ter)
c.976G>T (p.Glu326Ter)
c.895G>T (p.Glu299Ter)
c.*1+27573C>A (n.*1+27573C>A)
c.997G>T (p.Glu333Ter)
c.928G>T (p.Glu310Ter)
n.1478+24047C>A
9g.4576607A>CCA372818337SLC1A1,SPATA6Lc.1037A>C (p.Glu346Ala)
c.324A>C
c.*782-22219T>G (n.*782-22219T>G)
c.1106A>C (p.Glu369Ala)
c.1046A>C (p.Glu349Ala)
c.977A>C (p.Glu326Ala)
c.896A>C (p.Glu299Ala)
c.*1+27572T>G (n.*1+27572T>G)
c.998A>C (p.Glu333Ala)
c.929A>C (p.Glu310Ala)
n.1478+24046T>G
9g.4576607A>GCA372818338SLC1A1,SPATA6Lc.1037A>G (p.Glu346Gly)
c.324A>G
c.*782-22219T>C (n.*782-22219T>C)
c.1106A>G (p.Glu369Gly)
c.1046A>G (p.Glu349Gly)
c.977A>G (p.Glu326Gly)
c.896A>G (p.Glu299Gly)
c.*1+27572T>C (n.*1+27572T>C)
c.998A>G (p.Glu333Gly)
c.929A>G (p.Glu310Gly)
n.1478+24046T>C
9g.4576607A>TCA372818339SLC1A1,SPATA6Lc.1037A>T (p.Glu346Val)
c.324A>T
c.*782-22219T>A (n.*782-22219T>A)
c.1106A>T (p.Glu369Val)
c.1046A>T (p.Glu349Val)
c.977A>T (p.Glu326Val)
c.896A>T (p.Glu299Val)
c.*1+27572T>A (n.*1+27572T>A)
c.998A>T (p.Glu333Val)
c.929A>T (p.Glu310Val)
n.1478+24046T>A
9g.4576610delCA2689285193SLC1A1,SPATA6Lc.1040del (p.Asn347IlefsTer?)
c.327del
c.*782-22219del (n.*782-22219del)
c.1109del (p.Asn370IlefsTer?)
c.1049del (p.Asn350IlefsTer?)
c.980del (p.Asn327IlefsTer?)
c.899del (p.Asn300IlefsTer?)
c.*1+27572del (n.*1+27572del)
c.1001del (p.Asn334IlefsTer?)
c.932del (p.Asn311IlefsTer?)
n.1478+24046del
 gnomAD v4
9g.4576608A>CCA372818340SLC1A1,SPATA6Lc.1038A>C (p.Glu346Asp)
c.325A>C
c.*782-22220T>G (n.*782-22220T>G)
c.1107A>C (p.Glu369Asp)
c.1047A>C (p.Glu349Asp)
c.978A>C (p.Glu326Asp)
c.897A>C (p.Glu299Asp)
c.*1+27571T>G (n.*1+27571T>G)
c.999A>C (p.Glu333Asp)
c.930A>C (p.Glu310Asp)
n.1478+24045T>G
9g.4576608A>GCA463728395SLC1A1,SPATA6Lc.1038A>G (p.Glu346=)
c.325A>G
c.*782-22220T>C (n.*782-22220T>C)
c.1107A>G (p.Glu369=)
c.1047A>G (p.Glu349=)
c.978A>G (p.Glu326=)
c.897A>G (p.Glu299=)
c.*1+27571T>C (n.*1+27571T>C)
c.999A>G (p.Glu333=)
c.930A>G (p.Glu310=)
n.1478+24045T>C
9g.4576608A>TCA372818341SLC1A1,SPATA6Lc.1038A>T (p.Glu346Asp)
c.325A>T
c.*782-22220T>A (n.*782-22220T>A)
c.1107A>T (p.Glu369Asp)
c.1047A>T (p.Glu349Asp)
c.978A>T (p.Glu326Asp)
c.897A>T (p.Glu299Asp)
c.*1+27571T>A (n.*1+27571T>A)
c.999A>T (p.Glu333Asp)
c.930A>T (p.Glu310Asp)
n.1478+24045T>A
9g.4576609A>CCA372818342SLC1A1,SPATA6Lc.1039A>C (p.Asn347His)
c.326A>C
c.*782-22221T>G (n.*782-22221T>G)
c.1108A>C (p.Asn370His)
c.1048A>C (p.Asn350His)
c.979A>C (p.Asn327His)
c.898A>C (p.Asn300His)
c.*1+27570T>G (n.*1+27570T>G)
c.1000A>C (p.Asn334His)
c.931A>C (p.Asn311His)
n.1478+24044T>G
9g.4576609A>GCA372818343SLC1A1,SPATA6Lc.1039A>G (p.Asn347Asp)
c.326A>G
c.*782-22221T>C (n.*782-22221T>C)
c.1108A>G (p.Asn370Asp)
c.1048A>G (p.Asn350Asp)
c.979A>G (p.Asn327Asp)
c.898A>G (p.Asn300Asp)
c.*1+27570T>C (n.*1+27570T>C)
c.1000A>G (p.Asn334Asp)
c.931A>G (p.Asn311Asp)
n.1478+24044T>C
9g.4576609A>TCA372818344SLC1A1,SPATA6Lc.1039A>T (p.Asn347Tyr)
c.326A>T
c.*782-22221T>A (n.*782-22221T>A)
c.1108A>T (p.Asn370Tyr)
c.1048A>T (p.Asn350Tyr)
c.979A>T (p.Asn327Tyr)
c.898A>T (p.Asn300Tyr)
c.*1+27570T>A (n.*1+27570T>A)
c.1000A>T (p.Asn334Tyr)
c.931A>T (p.Asn311Tyr)
n.1478+24044T>A
9g.4576610A>CCA372818346SLC1A1,SPATA6Lc.1040A>C (p.Asn347Thr)
c.327A>C
c.*782-22222T>G (n.*782-22222T>G)
c.1109A>C (p.Asn370Thr)
c.1049A>C (p.Asn350Thr)
c.980A>C (p.Asn327Thr)
c.899A>C (p.Asn300Thr)
c.*1+27569T>G (n.*1+27569T>G)
c.1001A>C (p.Asn334Thr)
c.932A>C (p.Asn311Thr)
n.1478+24043T>G
9g.4576610A>GCA372818347SLC1A1,SPATA6Lc.1040A>G (p.Asn347Ser)
c.327A>G
c.*782-22222T>C (n.*782-22222T>C)
c.1109A>G (p.Asn370Ser)
c.1049A>G (p.Asn350Ser)
c.980A>G (p.Asn327Ser)
c.899A>G (p.Asn300Ser)
c.*1+27569T>C (n.*1+27569T>C)
c.1001A>G (p.Asn334Ser)
c.932A>G (p.Asn311Ser)
n.1478+24043T>C
9g.4576610A>TCA372818345SLC1A1,SPATA6Lc.1040A>T (p.Asn347Ile)
c.327A>T
c.*782-22222T>A (n.*782-22222T>A)
c.1109A>T (p.Asn370Ile)
c.1049A>T (p.Asn350Ile)
c.980A>T (p.Asn327Ile)
c.899A>T (p.Asn300Ile)
c.*1+27569T>A (n.*1+27569T>A)
c.1001A>T (p.Asn334Ile)
c.932A>T (p.Asn311Ile)
n.1478+24043T>A
9g.4576611T>ACA372818348SLC1A1,SPATA6Lc.1041T>A (p.Asn347Lys)
c.328T>A
c.*782-22223A>T (n.*782-22223A>T)
c.1110T>A (p.Asn370Lys)
c.1050T>A (p.Asn350Lys)
c.981T>A (p.Asn327Lys)
c.900T>A (p.Asn300Lys)
c.*1+27568A>T (n.*1+27568A>T)
c.1002T>A (p.Asn334Lys)
c.933T>A (p.Asn311Lys)
n.1478+24042A>T
 gnomAD v4
9g.4576611T>CCA463728407SLC1A1,SPATA6Lc.1041T>C (p.Asn347=)
c.328T>C
c.*782-22223A>G (n.*782-22223A>G)
c.1110T>C (p.Asn370=)
c.1050T>C (p.Asn350=)
c.981T>C (p.Asn327=)
c.900T>C (p.Asn300=)
c.*1+27568A>G (n.*1+27568A>G)
c.1002T>C (p.Asn334=)
c.933T>C (p.Asn311=)
n.1478+24042A>G
9g.4576611T>GCA372818349SLC1A1,SPATA6Lc.1041T>G (p.Asn347Lys)
c.328T>G
c.*782-22223A>C (n.*782-22223A>C)
c.1110T>G (p.Asn370Lys)
c.1050T>G (p.Asn350Lys)
c.981T>G (p.Asn327Lys)
c.900T>G (p.Asn300Lys)
c.*1+27568A>C (n.*1+27568A>C)
c.1002T>G (p.Asn334Lys)
c.933T>G (p.Asn311Lys)
n.1478+24042A>C
9g.4576612A>CCA372818350SLC1A1,SPATA6Lc.1042A>C (p.Asn348His)
c.329A>C
c.*782-22224T>G (n.*782-22224T>G)
c.1111A>C (p.Asn371His)
c.1051A>C (p.Asn351His)
c.982A>C (p.Asn328His)
c.901A>C (p.Asn301His)
c.*1+27567T>G (n.*1+27567T>G)
c.1003A>C (p.Asn335His)
c.934A>C (p.Asn312His)
n.1478+24041T>G
9g.4576612A>GCA372818351SLC1A1,SPATA6Lc.1042A>G (p.Asn348Asp)
c.329A>G
c.*782-22224T>C (n.*782-22224T>C)
c.1111A>G (p.Asn371Asp)
c.1051A>G (p.Asn351Asp)
c.982A>G (p.Asn328Asp)
c.901A>G (p.Asn301Asp)
c.*1+27567T>C (n.*1+27567T>C)
c.1003A>G (p.Asn335Asp)
c.934A>G (p.Asn312Asp)
n.1478+24041T>C
9g.4576612A>TCA372818352SLC1A1,SPATA6Lc.1042A>T (p.Asn348Tyr)
c.329A>T
c.*782-22224T>A (n.*782-22224T>A)
c.1111A>T (p.Asn371Tyr)
c.1051A>T (p.Asn351Tyr)
c.982A>T (p.Asn328Tyr)
c.901A>T (p.Asn301Tyr)
c.*1+27567T>A (n.*1+27567T>A)
c.1003A>T (p.Asn335Tyr)
c.934A>T (p.Asn312Tyr)
n.1478+24041T>A
9g.4576613A=CA1829385468SLC1A1,SPATA6Lc.1043A= (p.Asn348=)
c.330A=
c.*782-22225T= (n.*782-22225T=)
c.1112A= (p.Asn371=)
c.1052A= (p.Asn351=)
c.983A= (p.Asn328=)
c.902A= (p.Asn301=)
c.*1+27566T= (n.*1+27566T=)
c.1004A= (p.Asn335=)
c.935A= (p.Asn312=)
n.1478+24040T=
9g.4576613A>CCA372818355SLC1A1,SPATA6Lc.1043A>C (p.Asn348Thr)
c.330A>C
c.*782-22225T>G (n.*782-22225T>G)
c.1112A>C (p.Asn371Thr)
c.1052A>C (p.Asn351Thr)
c.983A>C (p.Asn328Thr)
c.902A>C (p.Asn301Thr)
c.*1+27566T>G (n.*1+27566T>G)
c.1004A>C (p.Asn335Thr)
c.935A>C (p.Asn312Thr)
n.1478+24040T>G
 dbSNP
9g.4576613A>GCA372818353SLC1A1,SPATA6Lc.1043A>G (p.Asn348Ser)
c.330A>G
c.*782-22225T>C (n.*782-22225T>C)
c.1112A>G (p.Asn371Ser)
c.1052A>G (p.Asn351Ser)
c.983A>G (p.Asn328Ser)
c.902A>G (p.Asn301Ser)
c.*1+27566T>C (n.*1+27566T>C)
c.1004A>G (p.Asn335Ser)
c.935A>G (p.Asn312Ser)
n.1478+24040T>C
9g.4576613A>TCA372818354SLC1A1,SPATA6Lc.1043A>T (p.Asn348Ile)
c.330A>T
c.*782-22225T>A (n.*782-22225T>A)
c.1112A>T (p.Asn371Ile)
c.1052A>T (p.Asn351Ile)
c.983A>T (p.Asn328Ile)
c.902A>T (p.Asn301Ile)
c.*1+27566T>A (n.*1+27566T>A)
c.1004A>T (p.Asn335Ile)
c.935A>T (p.Asn312Ile)
n.1478+24040T>A
9g.4576614C>ACA372818356SLC1A1,SPATA6Lc.1044C>A (p.Asn348Lys)
c.331C>A
c.*782-22226G>T (n.*782-22226G>T)
c.1113C>A (p.Asn371Lys)
c.1053C>A (p.Asn351Lys)
c.984C>A (p.Asn328Lys)
c.903C>A (p.Asn301Lys)
c.*1+27565G>T (n.*1+27565G>T)
c.1005C>A (p.Asn335Lys)
c.936C>A (p.Asn312Lys)
n.1478+24039G>T
9g.4576614C>GCA372818357SLC1A1,SPATA6Lc.1044C>G (p.Asn348Lys)
c.331C>G
c.*782-22226G>C (n.*782-22226G>C)
c.1113C>G (p.Asn371Lys)
c.1053C>G (p.Asn351Lys)
c.984C>G (p.Asn328Lys)
c.903C>G (p.Asn301Lys)
c.*1+27565G>C (n.*1+27565G>C)
c.1005C>G (p.Asn335Lys)
c.936C>G (p.Asn312Lys)
n.1478+24039G>C
 gnomAD v4 COSMIC
9g.4576614C>TCA463728417SLC1A1,SPATA6Lc.1044C>T (p.Asn348=)
c.331C>T
c.*782-22226G>A (n.*782-22226G>A)
c.1113C>T (p.Asn371=)
c.1053C>T (p.Asn351=)
c.984C>T (p.Asn328=)
c.903C>T (p.Asn301=)
c.*1+27565G>A (n.*1+27565G>A)
c.1005C>T (p.Asn335=)
c.936C>T (p.Asn312=)
n.1478+24039G>A
 gnomAD v4
9g.4576615C>ACA372818358SLC1A1,SPATA6Lc.1045C>A (p.Gln349Lys)
c.332C>A
c.*782-22227G>T (n.*782-22227G>T)
c.1114C>A (p.Gln372Lys)
c.1054C>A (p.Gln352Lys)
c.985C>A (p.Gln329Lys)
c.904C>A (p.Gln302Lys)
c.*1+27564G>T (n.*1+27564G>T)
c.1006C>A (p.Gln336Lys)
c.937C>A (p.Gln313Lys)
n.1478+24038G>T
9g.4576615C>GCA372818359SLC1A1,SPATA6Lc.1045C>G (p.Gln349Glu)
c.332C>G
c.*782-22227G>C (n.*782-22227G>C)
c.1114C>G (p.Gln372Glu)
c.1054C>G (p.Gln352Glu)
c.985C>G (p.Gln329Glu)
c.904C>G (p.Gln302Glu)
c.*1+27564G>C (n.*1+27564G>C)
c.1006C>G (p.Gln336Glu)
c.937C>G (p.Gln313Glu)
n.1478+24038G>C
9g.4576615C>TCA372818360SLC1A1,SPATA6Lc.1045C>T (p.Gln349Ter)
c.332C>T
c.*782-22227G>A (n.*782-22227G>A)
c.1114C>T (p.Gln372Ter)
c.1054C>T (p.Gln352Ter)
c.985C>T (p.Gln329Ter)
c.904C>T (p.Gln302Ter)
c.*1+27564G>A (n.*1+27564G>A)
c.1006C>T (p.Gln336Ter)
c.937C>T (p.Gln313Ter)
n.1478+24038G>A
 gnomAD v4 COSMIC
9g.4576616A>CCA372818361SLC1A1,SPATA6Lc.1046A>C (p.Gln349Pro)
c.333A>C
c.*782-22228T>G (n.*782-22228T>G)
c.1115A>C (p.Gln372Pro)
c.1055A>C (p.Gln352Pro)
c.986A>C (p.Gln329Pro)
c.905A>C (p.Gln302Pro)
c.*1+27563T>G (n.*1+27563T>G)
c.1007A>C (p.Gln336Pro)
c.938A>C (p.Gln313Pro)
n.1478+24037T>G
9g.4576616A>GCA372818363SLC1A1,SPATA6Lc.1046A>G (p.Gln349Arg)
c.333A>G
c.*782-22228T>C (n.*782-22228T>C)
c.1115A>G (p.Gln372Arg)
c.1055A>G (p.Gln352Arg)
c.986A>G (p.Gln329Arg)
c.905A>G (p.Gln302Arg)
c.*1+27563T>C (n.*1+27563T>C)
c.1007A>G (p.Gln336Arg)
c.938A>G (p.Gln313Arg)
n.1478+24037T>C
9g.4576616A>TCA372818362SLC1A1,SPATA6Lc.1046A>T (p.Gln349Leu)
c.333A>T
c.*782-22228T>A (n.*782-22228T>A)
c.1115A>T (p.Gln372Leu)
c.1055A>T (p.Gln352Leu)
c.986A>T (p.Gln329Leu)
c.905A>T (p.Gln302Leu)
c.*1+27563T>A (n.*1+27563T>A)
c.1007A>T (p.Gln336Leu)
c.938A>T (p.Gln313Leu)
n.1478+24037T>A
9g.4576617G>ACA188358955SLC1A1,SPATA6Lc.1047G>A (p.Gln349=)
c.334G>A
c.*782-22229C>T (n.*782-22229C>T)
c.1116G>A (p.Gln372=)
c.1056G>A (p.Gln352=)
c.987G>A (p.Gln329=)
c.906G>A (p.Gln302=)
c.*1+27562C>T (n.*1+27562C>T)
c.1008G>A (p.Gln336=)
c.939G>A (p.Gln313=)
n.1478+24036C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.4576617G>CCA372818364SLC1A1,SPATA6Lc.1047G>C (p.Gln349His)
c.334G>C
c.*782-22229C>G (n.*782-22229C>G)
c.1116G>C (p.Gln372His)
c.1056G>C (p.Gln352His)
c.987G>C (p.Gln329His)
c.906G>C (p.Gln302His)
c.*1+27562C>G (n.*1+27562C>G)
c.1008G>C (p.Gln336His)
c.939G>C (p.Gln313His)
n.1478+24036C>G
9g.4576617G=CA1829385469SLC1A1,SPATA6Lc.1047G= (p.Gln349=)
c.334G=
c.*782-22229C= (n.*782-22229C=)
c.1116G= (p.Gln372=)
c.1056G= (p.Gln352=)
c.987G= (p.Gln329=)
c.906G= (p.Gln302=)
c.*1+27562C= (n.*1+27562C=)
c.1008G= (p.Gln336=)
c.939G= (p.Gln313=)
n.1478+24036C=
9g.4576617G>TCA372818365SLC1A1,SPATA6Lc.1047G>T (p.Gln349His)
c.334G>T
c.*782-22229C>A (n.*782-22229C>A)
c.1116G>T (p.Gln372His)
c.1056G>T (p.Gln352His)
c.987G>T (p.Gln329His)
c.906G>T (p.Gln302His)
c.*1+27562C>A (n.*1+27562C>A)
c.1008G>T (p.Gln336His)
c.939G>T (p.Gln313His)
n.1478+24036C>A
9g.4576618G>ACA372818366SLC1A1,SPATA6Lc.1048G>A (p.Val350Met)
c.335G>A
c.*782-22230C>T (n.*782-22230C>T)
c.1117G>A (p.Val373Met)
c.1057G>A (p.Val353Met)
c.988G>A (p.Val330Met)
c.907G>A (p.Val303Met)
c.*1+27561C>T (n.*1+27561C>T)
c.1009G>A (p.Val337Met)
c.940G>A (p.Val314Met)
n.1478+24035C>T
 gnomAD v4
9g.4576618G>CCA372818367SLC1A1,SPATA6Lc.1048G>C (p.Val350Leu)
c.335G>C
c.*782-22230C>G (n.*782-22230C>G)
c.1117G>C (p.Val373Leu)
c.1057G>C (p.Val353Leu)
c.988G>C (p.Val330Leu)
c.907G>C (p.Val303Leu)
c.*1+27561C>G (n.*1+27561C>G)
c.1009G>C (p.Val337Leu)
c.940G>C (p.Val314Leu)
n.1478+24035C>G
9g.4576618G>TCA372818368SLC1A1,SPATA6Lc.1048G>T (p.Val350Leu)
c.335G>T
c.*782-22230C>A (n.*782-22230C>A)
c.1117G>T (p.Val373Leu)
c.1057G>T (p.Val353Leu)
c.988G>T (p.Val330Leu)
c.907G>T (p.Val303Leu)
c.*1+27561C>A (n.*1+27561C>A)
c.1009G>T (p.Val337Leu)
c.940G>T (p.Val314Leu)
n.1478+24035C>A
9g.4576619T>ACA372818369SLC1A1,SPATA6Lc.1049T>A (p.Val350Glu)
c.336T>A
c.*782-22231A>T (n.*782-22231A>T)
c.1118T>A (p.Val373Glu)
c.1058T>A (p.Val353Glu)
c.989T>A (p.Val330Glu)
c.908T>A (p.Val303Glu)
c.*1+27560A>T (n.*1+27560A>T)
c.1010T>A (p.Val337Glu)
c.941T>A (p.Val314Glu)
n.1478+24034A>T
9g.4576619T>CCA372818370SLC1A1,SPATA6Lc.1049T>C (p.Val350Ala)
c.336T>C
c.*782-22231A>G (n.*782-22231A>G)
c.1118T>C (p.Val373Ala)
c.1058T>C (p.Val353Ala)
c.989T>C (p.Val330Ala)
c.908T>C (p.Val303Ala)
c.*1+27560A>G (n.*1+27560A>G)
c.1010T>C (p.Val337Ala)
c.941T>C (p.Val314Ala)
n.1478+24034A>G
9g.4576619T>GCA372818371SLC1A1,SPATA6Lc.1049T>G (p.Val350Gly)
c.336T>G
c.*782-22231A>C (n.*782-22231A>C)
c.1118T>G (p.Val373Gly)
c.1058T>G (p.Val353Gly)
c.989T>G (p.Val330Gly)
c.908T>G (p.Val303Gly)
c.*1+27560A>C (n.*1+27560A>C)
c.1010T>G (p.Val337Gly)
c.941T>G (p.Val314Gly)
n.1478+24034A>C
9g.4576620G>ACA463728440SLC1A1,SPATA6Lc.1050G>A (p.Val350=)
c.337G>A
c.*782-22232C>T (n.*782-22232C>T)
c.1119G>A (p.Val373=)
c.1059G>A (p.Val353=)
c.990G>A (p.Val330=)
c.909G>A (p.Val303=)
c.*1+27559C>T (n.*1+27559C>T)
c.1011G>A (p.Val337=)
c.942G>A (p.Val314=)
n.1478+24033C>T
 gnomAD v4
9g.4576620G>CCA463728436SLC1A1,SPATA6Lc.1050G>C (p.Val350=)
c.337G>C
c.*782-22232C>G (n.*782-22232C>G)
c.1119G>C (p.Val373=)
c.1059G>C (p.Val353=)
c.990G>C (p.Val330=)
c.909G>C (p.Val303=)
c.*1+27559C>G (n.*1+27559C>G)
c.1011G>C (p.Val337=)
c.942G>C (p.Val314=)
n.1478+24033C>G
9g.4576620G>TCA463728438SLC1A1,SPATA6Lc.1050G>T (p.Val350=)
c.337G>T
c.*782-22232C>A (n.*782-22232C>A)
c.1119G>T (p.Val373=)
c.1059G>T (p.Val353=)
c.990G>T (p.Val330=)
c.909G>T (p.Val303=)
c.*1+27559C>A (n.*1+27559C>A)
c.1011G>T (p.Val337=)
c.942G>T (p.Val314=)
n.1478+24033C>A
9g.4576621G>ACA372818372SLC1A1,SPATA6Lc.1051G>A (p.Asp351Asn)
c.338G>A
c.*782-22233C>T (n.*782-22233C>T)
c.1120G>A (p.Asp374Asn)
c.1060G>A (p.Asp354Asn)
c.991G>A (p.Asp331Asn)
c.910G>A (p.Asp304Asn)
c.*1+27558C>T (n.*1+27558C>T)
c.1012G>A (p.Asp338Asn)
c.943G>A (p.Asp315Asn)
n.1478+24032C>T
 gnomAD v4 COSMIC
9g.4576621G>CCA372818373SLC1A1,SPATA6Lc.1051G>C (p.Asp351His)
c.338G>C
c.*782-22233C>G (n.*782-22233C>G)
c.1120G>C (p.Asp374His)
c.1060G>C (p.Asp354His)
c.991G>C (p.Asp331His)
c.910G>C (p.Asp304His)
c.*1+27558C>G (n.*1+27558C>G)
c.1012G>C (p.Asp338His)
c.943G>C (p.Asp315His)
n.1478+24032C>G
 dbSNP
9g.4576621G=CA1829385470SLC1A1,SPATA6Lc.1051G= (p.Asp351=)
c.338G=
c.*782-22233C= (n.*782-22233C=)
c.1120G= (p.Asp374=)
c.1060G= (p.Asp354=)
c.991G= (p.Asp331=)
c.910G= (p.Asp304=)
c.*1+27558C= (n.*1+27558C=)
c.1012G= (p.Asp338=)
c.943G= (p.Asp315=)
n.1478+24032C=
9g.4576621G>TCA372818374SLC1A1,SPATA6Lc.1051G>T (p.Asp351Tyr)
c.338G>T
c.*782-22233C>A (n.*782-22233C>A)
c.1120G>T (p.Asp374Tyr)
c.1060G>T (p.Asp354Tyr)
c.991G>T (p.Asp331Tyr)
c.910G>T (p.Asp304Tyr)
c.*1+27558C>A (n.*1+27558C>A)
c.1012G>T (p.Asp338Tyr)
c.943G>T (p.Asp315Tyr)
n.1478+24032C>A
9g.4576622A>CCA372818377SLC1A1,SPATA6Lc.1052A>C (p.Asp351Ala)
c.339A>C
c.*782-22234T>G (n.*782-22234T>G)
c.1121A>C (p.Asp374Ala)
c.1061A>C (p.Asp354Ala)
c.992A>C (p.Asp331Ala)
c.911A>C (p.Asp304Ala)
c.*1+27557T>G (n.*1+27557T>G)
c.1013A>C (p.Asp338Ala)
c.944A>C (p.Asp315Ala)
n.1478+24031T>G
9g.4576622A>GCA372818376SLC1A1,SPATA6Lc.1052A>G (p.Asp351Gly)
c.339A>G
c.*782-22234T>C (n.*782-22234T>C)
c.1121A>G (p.Asp374Gly)
c.1061A>G (p.Asp354Gly)
c.992A>G (p.Asp331Gly)
c.911A>G (p.Asp304Gly)
c.*1+27557T>C (n.*1+27557T>C)
c.1013A>G (p.Asp338Gly)
c.944A>G (p.Asp315Gly)
n.1478+24031T>C
 gnomAD v4
9g.4576622A>TCA372818375SLC1A1,SPATA6Lc.1052A>T (p.Asp351Val)
c.339A>T
c.*782-22234T>A (n.*782-22234T>A)
c.1121A>T (p.Asp374Val)
c.1061A>T (p.Asp354Val)
c.992A>T (p.Asp331Val)
c.911A>T (p.Asp304Val)
c.*1+27557T>A (n.*1+27557T>A)
c.1013A>T (p.Asp338Val)
c.944A>T (p.Asp315Val)
n.1478+24031T>A
9g.4576623C>ACA372818378SLC1A1,SPATA6Lc.1053C>A (p.Asp351Glu)
c.340C>A
c.*782-22235G>T (n.*782-22235G>T)
c.1122C>A (p.Asp374Glu)
c.1062C>A (p.Asp354Glu)
c.993C>A (p.Asp331Glu)
c.912C>A (p.Asp304Glu)
c.*1+27556G>T (n.*1+27556G>T)
c.1014C>A (p.Asp338Glu)
c.945C>A (p.Asp315Glu)
n.1478+24030G>T
9g.4576623C=CA1829385471SLC1A1,SPATA6Lc.1053C= (p.Asp351=)
c.340C=
c.*782-22235G= (n.*782-22235G=)
c.1122C= (p.Asp374=)
c.1062C= (p.Asp354=)
c.993C= (p.Asp331=)
c.912C= (p.Asp304=)
c.*1+27556G= (n.*1+27556G=)
c.1014C= (p.Asp338=)
c.945C= (p.Asp315=)
n.1478+24030G=
9g.4576623C>GCA372818379SLC1A1,SPATA6Lc.1053C>G (p.Asp351Glu)
c.340C>G
c.*782-22235G>C (n.*782-22235G>C)
c.1122C>G (p.Asp374Glu)
c.1062C>G (p.Asp354Glu)
c.993C>G (p.Asp331Glu)
c.912C>G (p.Asp304Glu)
c.*1+27556G>C (n.*1+27556G>C)
c.1014C>G (p.Asp338Glu)
c.945C>G (p.Asp315Glu)
n.1478+24030G>C
9g.4576623C>TCA463728455SLC1A1,SPATA6Lc.1053C>T (p.Asp351=)
c.340C>T
c.*782-22235G>A (n.*782-22235G>A)
c.1122C>T (p.Asp374=)
c.1062C>T (p.Asp354=)
c.993C>T (p.Asp331=)
c.912C>T (p.Asp304=)
c.*1+27556G>A (n.*1+27556G>A)
c.1014C>T (p.Asp338=)
c.945C>T (p.Asp315=)
n.1478+24030G>A
 dbSNP gnomAD v2 gnomAD v4
9g.4576624A>CCA372818380SLC1A1,SPATA6Lc.1054A>C (p.Lys352Gln)
c.341A>C
c.*782-22236T>G (n.*782-22236T>G)
c.1123A>C (p.Lys375Gln)
c.1063A>C (p.Lys355Gln)
c.994A>C (p.Lys332Gln)
c.913A>C (p.Lys305Gln)
c.*1+27555T>G (n.*1+27555T>G)
c.1015A>C (p.Lys339Gln)
c.946A>C (p.Lys316Gln)
n.1478+24029T>G
9g.4576624A>GCA372818381SLC1A1,SPATA6Lc.1054A>G (p.Lys352Glu)
c.341A>G
c.*782-22236T>C (n.*782-22236T>C)
c.1123A>G (p.Lys375Glu)
c.1063A>G (p.Lys355Glu)
c.994A>G (p.Lys332Glu)
c.913A>G (p.Lys305Glu)
c.*1+27555T>C (n.*1+27555T>C)
c.1015A>G (p.Lys339Glu)
c.946A>G (p.Lys316Glu)
n.1478+24029T>C
9g.4576624A>TCA372818382SLC1A1,SPATA6Lc.1054A>T (p.Lys352Ter)
c.341A>T
c.*782-22236T>A (n.*782-22236T>A)
c.1123A>T (p.Lys375Ter)
c.1063A>T (p.Lys355Ter)
c.994A>T (p.Lys332Ter)
c.913A>T (p.Lys305Ter)
c.*1+27555T>A (n.*1+27555T>A)
c.1015A>T (p.Lys339Ter)
c.946A>T (p.Lys316Ter)
n.1478+24029T>A
9g.4576624_4576625insTAAACCAGGGACATAAACCCA2689285194SLC1A1,SPATA6Lc.1054_1055insTAAACCAGGGACATAAACC (p.Lys352IlefsTer29)
c.341_342insTAAACCAGGGACATAAACC
c.*782-22237_*782-22236insGGTTTATGTCCCTGGTTTA (n.*782-22237_*782-22236insGGTTTATGTCCCTGGTTTA)
c.1123_1124insTAAACCAGGGACATAAACC (p.Lys375IlefsTer29)
c.1063_1064insTAAACCAGGGACATAAACC (p.Lys355IlefsTer29)
c.994_995insTAAACCAGGGACATAAACC (p.Lys332IlefsTer29)
c.913_914insTAAACCAGGGACATAAACC (p.Lys305IlefsTer29)
c.*1+27554_*1+27555insGGTTTATGTCCCTGGTTTA (n.*1+27554_*1+27555insGGTTTATGTCCCTGGTTTA)
c.1015_1016insTAAACCAGGGACATAAACC (p.Lys339IlefsTer29)
c.946_947insTAAACCAGGGACATAAACC (p.Lys316IlefsTer29)
n.1478+24028_1478+24029insGGTTTATGTCCCTGGTTTA
 gnomAD v4
9g.4576625A=CA1829385472SLC1A1,SPATA6Lc.1055A= (p.Lys352=)
c.342A=
c.*782-22237T= (n.*782-22237T=)
c.1124A= (p.Lys375=)
c.1064A= (p.Lys355=)
c.995A= (p.Lys332=)
c.914A= (p.Lys305=)
c.*1+27554T= (n.*1+27554T=)
c.1016A= (p.Lys339=)
c.947A= (p.Lys316=)
n.1478+24028T=
9g.4576625A>CCA372818383SLC1A1,SPATA6Lc.1055A>C (p.Lys352Thr)
c.342A>C
c.*782-22237T>G (n.*782-22237T>G)
c.1124A>C (p.Lys375Thr)
c.1064A>C (p.Lys355Thr)
c.995A>C (p.Lys332Thr)
c.914A>C (p.Lys305Thr)
c.*1+27554T>G (n.*1+27554T>G)
c.1016A>C (p.Lys339Thr)
c.947A>C (p.Lys316Thr)
n.1478+24028T>G
9g.4576625A>GCA372818384SLC1A1,SPATA6Lc.1055A>G (p.Lys352Arg)
c.342A>G
c.*782-22237T>C (n.*782-22237T>C)
c.1124A>G (p.Lys375Arg)
c.1064A>G (p.Lys355Arg)
c.995A>G (p.Lys332Arg)
c.914A>G (p.Lys305Arg)
c.*1+27554T>C (n.*1+27554T>C)
c.1016A>G (p.Lys339Arg)
c.947A>G (p.Lys316Arg)
n.1478+24028T>C
9g.4576625A>TCA4969217SLC1A1,SPATA6Lc.1055A>T (p.Lys352Met)
c.342A>T
c.*782-22237T>A (n.*782-22237T>A)
c.1124A>T (p.Lys375Met)
c.1064A>T (p.Lys355Met)
c.995A>T (p.Lys332Met)
c.914A>T (p.Lys305Met)
c.*1+27554T>A (n.*1+27554T>A)
c.1016A>T (p.Lys339Met)
c.947A>T (p.Lys316Met)
n.1478+24028T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.4576626G>ACA463728467SLC1A1,SPATA6Lc.1056G>A (p.Lys352=)
c.343G>A
c.*782-22238C>T (n.*782-22238C>T)
c.1125G>A (p.Lys375=)
c.1065G>A (p.Lys355=)
c.996G>A (p.Lys332=)
c.915G>A (p.Lys305=)
c.*1+27553C>T (n.*1+27553C>T)
c.1017G>A (p.Lys339=)
c.948G>A (p.Lys316=)
n.1478+24027C>T
9g.4576626G>CCA188358957SLC1A1,SPATA6Lc.1056G>C (p.Lys352Asn)
c.343G>C
c.*782-22238C>G (n.*782-22238C>G)
c.1125G>C (p.Lys375Asn)
c.1065G>C (p.Lys355Asn)
c.996G>C (p.Lys332Asn)
c.915G>C (p.Lys305Asn)
c.*1+27553C>G (n.*1+27553C>G)
c.1017G>C (p.Lys339Asn)
c.948G>C (p.Lys316Asn)
n.1478+24027C>G
 dbSNP gnomAD v4 COSMIC
9g.4576626G=CA1829385475SLC1A1,SPATA6Lc.1056G= (p.Lys352=)
c.343G=
c.*782-22238C= (n.*782-22238C=)
c.1125G= (p.Lys375=)
c.1065G= (p.Lys355=)
c.996G= (p.Lys332=)
c.915G= (p.Lys305=)
c.*1+27553C= (n.*1+27553C=)
c.1017G= (p.Lys339=)
c.948G= (p.Lys316=)
n.1478+24027C=
9g.4576626G>TCA372818385SLC1A1,SPATA6Lc.1056G>T (p.Lys352Asn)
c.343G>T
c.*782-22238C>A (n.*782-22238C>A)
c.1125G>T (p.Lys375Asn)
c.1065G>T (p.Lys355Asn)
c.996G>T (p.Lys332Asn)
c.915G>T (p.Lys305Asn)
c.*1+27553C>A (n.*1+27553C>A)
c.1017G>T (p.Lys339Asn)
c.948G>T (p.Lys316Asn)
n.1478+24027C>A
9g.4576627A>CCA463728471SLC1A1,SPATA6Lc.1057A>C (p.Arg353=)
c.344A>C
c.*782-22239T>G (n.*782-22239T>G)
c.1126A>C (p.Arg376=)
c.1066A>C (p.Arg356=)
c.997A>C (p.Arg333=)
c.916A>C (p.Arg306=)
c.*1+27552T>G (n.*1+27552T>G)
c.1018A>C (p.Arg340=)
c.949A>C (p.Arg317=)
n.1478+24026T>G
9g.4576627A>GCA372818386SLC1A1,SPATA6Lc.1057A>G (p.Arg353Gly)
c.344A>G
c.*782-22239T>C (n.*782-22239T>C)
c.1126A>G (p.Arg376Gly)
c.1066A>G (p.Arg356Gly)
c.997A>G (p.Arg333Gly)
c.916A>G (p.Arg306Gly)
c.*1+27552T>C (n.*1+27552T>C)
c.1018A>G (p.Arg340Gly)
c.949A>G (p.Arg317Gly)
n.1478+24026T>C
9g.4576627A>TCA372818387SLC1A1,SPATA6Lc.1057A>T (p.Arg353Trp)
c.344A>T
c.*782-22239T>A (n.*782-22239T>A)
c.1126A>T (p.Arg376Trp)
c.1066A>T (p.Arg356Trp)
c.997A>T (p.Arg333Trp)
c.916A>T (p.Arg306Trp)
c.*1+27552T>A (n.*1+27552T>A)
c.1018A>T (p.Arg340Trp)
c.949A>T (p.Arg317Trp)
n.1478+24026T>A
9g.4576628G>ACA372818390SLC1A1,SPATA6Lc.1058G>A (p.Arg353Lys)
c.345G>A
c.*782-22240C>T (n.*782-22240C>T)
c.1127G>A (p.Arg376Lys)
c.1067G>A (p.Arg356Lys)
c.998G>A (p.Arg333Lys)
c.917G>A (p.Arg306Lys)
c.*1+27551C>T (n.*1+27551C>T)
c.1019G>A (p.Arg340Lys)
c.950G>A (p.Arg317Lys)
n.1478+24025C>T
 gnomAD v4
9g.4576628G>CCA372818389SLC1A1,SPATA6Lc.1058G>C (p.Arg353Thr)
c.345G>C
c.*782-22240C>G (n.*782-22240C>G)
c.1127G>C (p.Arg376Thr)
c.1067G>C (p.Arg356Thr)
c.998G>C (p.Arg333Thr)
c.917G>C (p.Arg306Thr)
c.*1+27551C>G (n.*1+27551C>G)
c.1019G>C (p.Arg340Thr)
c.950G>C (p.Arg317Thr)
n.1478+24025C>G
9g.4576628G>TCA372818388SLC1A1,SPATA6Lc.1058G>T (p.Arg353Met)
c.345G>T
c.*782-22240C>A (n.*782-22240C>A)
c.1127G>T (p.Arg376Met)
c.1067G>T (p.Arg356Met)
c.998G>T (p.Arg333Met)
c.917G>T (p.Arg306Met)
c.*1+27551C>A (n.*1+27551C>A)
c.1019G>T (p.Arg340Met)
c.950G>T (p.Arg317Met)
n.1478+24025C>A
9g.4576629G>ACA463728479SLC1A1,SPATA6Lc.1059G>A (p.Arg353=)
c.346G>A
c.*782-22241C>T (n.*782-22241C>T)
c.1128G>A (p.Arg376=)
c.1068G>A (p.Arg356=)
c.999G>A (p.Arg333=)
c.918G>A (p.Arg306=)
c.*1+27550C>T (n.*1+27550C>T)
c.1020G>A (p.Arg340=)
c.951G>A (p.Arg317=)
n.1478+24024C>T
 gnomAD v4
9g.4576629G>CCA372818391SLC1A1,SPATA6Lc.1059G>C (p.Arg353Ser)
c.346G>C
c.*782-22241C>G (n.*782-22241C>G)
c.1128G>C (p.Arg376Ser)
c.1068G>C (p.Arg356Ser)
c.999G>C (p.Arg333Ser)
c.918G>C (p.Arg306Ser)
c.*1+27550C>G (n.*1+27550C>G)
c.1020G>C (p.Arg340Ser)
c.951G>C (p.Arg317Ser)
n.1478+24024C>G
 dbSNP
9g.4576629G=CA1829385479SLC1A1,SPATA6Lc.1059G= (p.Arg353=)
c.346G=
c.*782-22241C= (n.*782-22241C=)
c.1128G= (p.Arg376=)
c.1068G= (p.Arg356=)
c.999G= (p.Arg333=)
c.918G= (p.Arg306=)
c.*1+27550C= (n.*1+27550C=)
c.1020G= (p.Arg340=)
c.951G= (p.Arg317=)
n.1478+24024C=
9g.4576629G>TCA372818392SLC1A1,SPATA6Lc.1059G>T (p.Arg353Ser)
c.346G>T
c.*782-22241C>A (n.*782-22241C>A)
c.1128G>T (p.Arg376Ser)
c.1068G>T (p.Arg356Ser)
c.999G>T (p.Arg333Ser)
c.918G>T (p.Arg306Ser)
c.*1+27550C>A (n.*1+27550C>A)
c.1020G>T (p.Arg340Ser)
c.951G>T (p.Arg317Ser)
n.1478+24024C>A
9g.4576630A>CCA372818393SLC1A1,SPATA6Lc.1060A>C (p.Ile354Leu)
c.347A>C
c.*782-22242T>G (n.*782-22242T>G)
c.1129A>C (p.Ile377Leu)
c.1069A>C (p.Ile357Leu)
c.1000A>C (p.Ile334Leu)
c.919A>C (p.Ile307Leu)
c.*1+27549T>G (n.*1+27549T>G)
c.1021A>C (p.Ile341Leu)
c.952A>C (p.Ile318Leu)
n.1478+24023T>G
 gnomAD v4
9g.4576630A>GCA372818394SLC1A1,SPATA6Lc.1060A>G (p.Ile354Val)
c.347A>G
c.*782-22242T>C (n.*782-22242T>C)
c.1129A>G (p.Ile377Val)
c.1069A>G (p.Ile357Val)
c.1000A>G (p.Ile334Val)
c.919A>G (p.Ile307Val)
c.*1+27549T>C (n.*1+27549T>C)
c.1021A>G (p.Ile341Val)
c.952A>G (p.Ile318Val)
n.1478+24023T>C
9g.4576630A>TCA372818395SLC1A1,SPATA6Lc.1060A>T (p.Ile354Phe)
c.347A>T
c.*782-22242T>A (n.*782-22242T>A)
c.1129A>T (p.Ile377Phe)
c.1069A>T (p.Ile357Phe)
c.1000A>T (p.Ile334Phe)
c.919A>T (p.Ile307Phe)
c.*1+27549T>A (n.*1+27549T>A)
c.1021A>T (p.Ile341Phe)
c.952A>T (p.Ile318Phe)
n.1478+24023T>A
9g.4576631T>ACA372818396SLC1A1,SPATA6Lc.1061T>A (p.Ile354Asn)
c.348T>A
c.*782-22243A>T (n.*782-22243A>T)
c.1130T>A (p.Ile377Asn)
c.1070T>A (p.Ile357Asn)
c.1001T>A (p.Ile334Asn)
c.920T>A (p.Ile307Asn)
c.*1+27548A>T (n.*1+27548A>T)
c.1022T>A (p.Ile341Asn)
c.953T>A (p.Ile318Asn)
n.1478+24022A>T
9g.4576631T>CCA372818397SLC1A1,SPATA6Lc.1061T>C (p.Ile354Thr)
c.348T>C
c.*782-22243A>G (n.*782-22243A>G)
c.1130T>C (p.Ile377Thr)
c.1070T>C (p.Ile357Thr)
c.1001T>C (p.Ile334Thr)
c.920T>C (p.Ile307Thr)
c.*1+27548A>G (n.*1+27548A>G)
c.1022T>C (p.Ile341Thr)
c.953T>C (p.Ile318Thr)
n.1478+24022A>G
 gnomAD v4
9g.4576631T>GCA372818398SLC1A1,SPATA6Lc.1061T>G (p.Ile354Ser)
c.348T>G
c.*782-22243A>C (n.*782-22243A>C)
c.1130T>G (p.Ile377Ser)
c.1070T>G (p.Ile357Ser)
c.1001T>G (p.Ile334Ser)
c.920T>G (p.Ile307Ser)
c.*1+27548A>C (n.*1+27548A>C)
c.1022T>G (p.Ile341Ser)
c.953T>G (p.Ile318Ser)
n.1478+24022A>C
9g.4576632C>ACA463728487SLC1A1,SPATA6Lc.1062C>A (p.Ile354=)
c.349C>A
c.*782-22244G>T (n.*782-22244G>T)
c.1131C>A (p.Ile377=)
c.1071C>A (p.Ile357=)
c.1002C>A (p.Ile334=)
c.921C>A (p.Ile307=)
c.*1+27547G>T (n.*1+27547G>T)
c.1023C>A (p.Ile341=)
c.954C>A (p.Ile318=)
n.1478+24021G>T
 gnomAD v4
9g.4576632C>GCA372818399SLC1A1,SPATA6Lc.1062C>G (p.Ile354Met)
c.349C>G
c.*782-22244G>C (n.*782-22244G>C)
c.1131C>G (p.Ile377Met)
c.1071C>G (p.Ile357Met)
c.1002C>G (p.Ile334Met)
c.921C>G (p.Ile307Met)
c.*1+27547G>C (n.*1+27547G>C)
c.1023C>G (p.Ile341Met)
c.954C>G (p.Ile318Met)
n.1478+24021G>C
 gnomAD v4
9g.4576632C>TCA463728492SLC1A1,SPATA6Lc.1062C>T (p.Ile354=)
c.349C>T
c.*782-22244G>A (n.*782-22244G>A)
c.1131C>T (p.Ile377=)
c.1071C>T (p.Ile357=)
c.1002C>T (p.Ile334=)
c.921C>T (p.Ile307=)
c.*1+27547G>A (n.*1+27547G>A)
c.1023C>T (p.Ile341=)
c.954C>T (p.Ile318=)
n.1478+24021G>A
9g.4576633A>CCA372818400SLC1A1,SPATA6Lc.1063A>C (p.Thr355Pro)
c.350A>C
c.*782-22245T>G (n.*782-22245T>G)
c.1132A>C (p.Thr378Pro)
c.1072A>C (p.Thr358Pro)
c.1003A>C (p.Thr335Pro)
c.922A>C (p.Thr308Pro)
c.*1+27546T>G (n.*1+27546T>G)
c.1024A>C (p.Thr342Pro)
c.955A>C (p.Thr319Pro)
n.1478+24020T>G
9g.4576633A>GCA372818401SLC1A1,SPATA6Lc.1063A>G (p.Thr355Ala)
c.350A>G
c.*782-22245T>C (n.*782-22245T>C)
c.1132A>G (p.Thr378Ala)
c.1072A>G (p.Thr358Ala)
c.1003A>G (p.Thr335Ala)
c.922A>G (p.Thr308Ala)
c.*1+27546T>C (n.*1+27546T>C)
c.1024A>G (p.Thr342Ala)
c.955A>G (p.Thr319Ala)
n.1478+24020T>C
9g.4576633A>TCA372818402SLC1A1,SPATA6Lc.1063A>T (p.Thr355Ser)
c.350A>T
c.*782-22245T>A (n.*782-22245T>A)
c.1132A>T (p.Thr378Ser)
c.1072A>T (p.Thr358Ser)
c.1003A>T (p.Thr335Ser)
c.922A>T (p.Thr308Ser)
c.*1+27546T>A (n.*1+27546T>A)
c.1024A>T (p.Thr342Ser)
c.955A>T (p.Thr319Ser)
n.1478+24020T>A
9g.4576634C>ACA372818404SLC1A1,SPATA6Lc.1064C>A (p.Thr355Asn)
c.351C>A
c.*782-22246G>T (n.*782-22246G>T)
c.1133C>A (p.Thr378Asn)
c.1073C>A (p.Thr358Asn)
c.1004C>A (p.Thr335Asn)
c.923C>A (p.Thr308Asn)
c.*1+27545G>T (n.*1+27545G>T)
c.1025C>A (p.Thr342Asn)
c.956C>A (p.Thr319Asn)
n.1478+24019G>T
9g.4576634C>GCA372818405SLC1A1,SPATA6Lc.1064C>G (p.Thr355Ser)
c.351C>G
c.*782-22246G>C (n.*782-22246G>C)
c.1133C>G (p.Thr378Ser)
c.1073C>G (p.Thr358Ser)
c.1004C>G (p.Thr335Ser)
c.923C>G (p.Thr308Ser)
c.*1+27545G>C (n.*1+27545G>C)
c.1025C>G (p.Thr342Ser)
c.956C>G (p.Thr319Ser)
n.1478+24019G>C
9g.4576634C>TCA372818403SLC1A1,SPATA6Lc.1064C>T (p.Thr355Ile)
c.351C>T
c.*782-22246G>A (n.*782-22246G>A)
c.1133C>T (p.Thr378Ile)
c.1073C>T (p.Thr358Ile)
c.1004C>T (p.Thr335Ile)
c.923C>T (p.Thr308Ile)
c.*1+27545G>A (n.*1+27545G>A)
c.1025C>T (p.Thr342Ile)
c.956C>T (p.Thr319Ile)
n.1478+24019G>A
 gnomAD v4
9g.4576635delCA2689285195SLC1A1,SPATA6Lc.1065del (p.Arg356AspfsTer29)
c.352del
c.*782-22247del (n.*782-22247del)
c.1134del (p.Arg379AspfsTer29)
c.1074del (p.Arg359AspfsTer29)
c.1005del (p.Arg336AspfsTer29)
c.924del (p.Arg309AspfsTer29)
c.*1+27544del (n.*1+27544del)
c.1026del (p.Arg343AspfsTer29)
c.957del (p.Arg320AspfsTer29)
n.1478+24018del
 gnomAD v4
9g.4576635T>ACA463728502SLC1A1,SPATA6Lc.1065T>A (p.Thr355=)
c.352T>A
c.*782-22247A>T (n.*782-22247A>T)
c.1134T>A (p.Thr378=)
c.1074T>A (p.Thr358=)
c.1005T>A (p.Thr335=)
c.924T>A (p.Thr308=)
c.*1+27544A>T (n.*1+27544A>T)
c.1026T>A (p.Thr342=)
c.957T>A (p.Thr319=)
n.1478+24018A>T
9g.4576635T>CCA463728504SLC1A1,SPATA6Lc.1065T>C (p.Thr355=)
c.352T>C
c.*782-22247A>G (n.*782-22247A>G)
c.1134T>C (p.Thr378=)
c.1074T>C (p.Thr358=)
c.1005T>C (p.Thr335=)
c.924T>C (p.Thr308=)
c.*1+27544A>G (n.*1+27544A>G)
c.1026T>C (p.Thr342=)
c.957T>C (p.Thr319=)
n.1478+24018A>G
9g.4576635T>GCA463728506SLC1A1,SPATA6Lc.1065T>G (p.Thr355=)
c.352T>G
c.*782-22247A>C (n.*782-22247A>C)
c.1134T>G (p.Thr378=)
c.1074T>G (p.Thr358=)
c.1005T>G (p.Thr335=)
c.924T>G (p.Thr308=)
c.*1+27544A>C (n.*1+27544A>C)
c.1026T>G (p.Thr342=)
c.957T>G (p.Thr319=)
n.1478+24018A>C
 dbSNP
9g.4576635T=CA1829385483SLC1A1,SPATA6Lc.1065T= (p.Thr355=)
c.352T=
c.*782-22247A= (n.*782-22247A=)
c.1134T= (p.Thr378=)
c.1074T= (p.Thr358=)
c.1005T= (p.Thr335=)
c.924T= (p.Thr308=)
c.*1+27544A= (n.*1+27544A=)
c.1026T= (p.Thr342=)
c.957T= (p.Thr319=)
n.1478+24018A=
9g.4576636C>ACA4969218SLC1A1,SPATA6Lc.1066C>A (p.Arg356=)
c.353C>A
c.*782-22248G>T (n.*782-22248G>T)
c.1135C>A (p.Arg379=)
c.1075C>A (p.Arg359=)
c.1006C>A (p.Arg336=)
c.925C>A (p.Arg309=)
c.*1+27543G>T (n.*1+27543G>T)
c.1027C>A (p.Arg343=)
c.958C>A (p.Arg320=)
n.1478+24017G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.4576636C=CA1829385489SLC1A1,SPATA6Lc.1066C= (p.Arg356=)
c.353C=
c.*782-22248G= (n.*782-22248G=)
c.1135C= (p.Arg379=)
c.1075C= (p.Arg359=)
c.1006C= (p.Arg336=)
c.925C= (p.Arg309=)
c.*1+27543G= (n.*1+27543G=)
c.1027C= (p.Arg343=)
c.958C= (p.Arg320=)
n.1478+24017G=
9g.4576636C>GCA372818406SLC1A1,SPATA6Lc.1066C>G (p.Arg356Gly)
c.353C>G
c.*782-22248G>C (n.*782-22248G>C)
c.1135C>G (p.Arg379Gly)
c.1075C>G (p.Arg359Gly)
c.1006C>G (p.Arg336Gly)
c.925C>G (p.Arg309Gly)
c.*1+27543G>C (n.*1+27543G>C)
c.1027C>G (p.Arg343Gly)
c.958C>G (p.Arg320Gly)
n.1478+24017G>C
 gnomAD v4
9g.4576636C>TCA372818407SLC1A1,SPATA6Lc.1066C>T (p.Arg356Ter)
c.353C>T
c.*782-22248G>A (n.*782-22248G>A)
c.1135C>T (p.Arg379Ter)
c.1075C>T (p.Arg359Ter)
c.1006C>T (p.Arg336Ter)
c.925C>T (p.Arg309Ter)
c.*1+27543G>A (n.*1+27543G>A)
c.1027C>T (p.Arg343Ter)
c.958C>T (p.Arg320Ter)
n.1478+24017G>A
 ClinVar dbSNP gnomAD v4
9g.4576636_4576637insAGGCA2689285196SLC1A1,SPATA6Lc.1066_1067insAGG (p.Arg356delinsGlnGly)
c.353_354insAGG
c.*782-22249_*782-22248insCCT (n.*782-22249_*782-22248insCCT)
c.1135_1136insAGG (p.Arg379delinsGlnGly)
c.1075_1076insAGG (p.Arg359delinsGlnGly)
c.1006_1007insAGG (p.Arg336delinsGlnGly)
c.925_926insAGG (p.Arg309delinsGlnGly)
c.*1+27542_*1+27543insCCT (n.*1+27542_*1+27543insCCT)
c.1027_1028insAGG (p.Arg343delinsGlnGly)
c.958_959insAGG (p.Arg320delinsGlnGly)
n.1478+24016_1478+24017insCCT
 gnomAD v4
9g.4576637G>ACA4969219SLC1A1,SPATA6Lc.1067G>A (p.Arg356Gln)
c.354G>A
c.*782-22249C>T (n.*782-22249C>T)
c.1136G>A (p.Arg379Gln)
c.1076G>A (p.Arg359Gln)
c.1007G>A (p.Arg336Gln)
c.926G>A (p.Arg309Gln)
c.*1+27542C>T (n.*1+27542C>T)
c.1028G>A (p.Arg343Gln)
c.959G>A (p.Arg320Gln)
n.1478+24016C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576637G>CCA372818408SLC1A1,SPATA6Lc.1067G>C (p.Arg356Pro)
c.354G>C
c.*782-22249C>G (n.*782-22249C>G)
c.1136G>C (p.Arg379Pro)
c.1076G>C (p.Arg359Pro)
c.1007G>C (p.Arg336Pro)
c.926G>C (p.Arg309Pro)
c.*1+27542C>G (n.*1+27542C>G)
c.1028G>C (p.Arg343Pro)
c.959G>C (p.Arg320Pro)
n.1478+24016C>G
9g.4576637G=CA1829385492SLC1A1,SPATA6Lc.1067G= (p.Arg356=)
c.354G=
c.*782-22249C= (n.*782-22249C=)
c.1136G= (p.Arg379=)
c.1076G= (p.Arg359=)
c.1007G= (p.Arg336=)
c.926G= (p.Arg309=)
c.*1+27542C= (n.*1+27542C=)
c.1028G= (p.Arg343=)
c.959G= (p.Arg320=)
n.1478+24016C=
9g.4576637G>TCA372818409SLC1A1,SPATA6Lc.1067G>T (p.Arg356Leu)
c.354G>T
c.*782-22249C>A (n.*782-22249C>A)
c.1136G>T (p.Arg379Leu)
c.1076G>T (p.Arg359Leu)
c.1007G>T (p.Arg336Leu)
c.926G>T (p.Arg309Leu)
c.*1+27542C>A (n.*1+27542C>A)
c.1028G>T (p.Arg343Leu)
c.959G>T (p.Arg320Leu)
n.1478+24016C>A
9g.4576638A>CCA463728515SLC1A1,SPATA6Lc.1068A>C (p.Arg356=)
c.355A>C
c.*782-22250T>G (n.*782-22250T>G)
c.1137A>C (p.Arg379=)
c.1077A>C (p.Arg359=)
c.1008A>C (p.Arg336=)
c.927A>C (p.Arg309=)
c.*1+27541T>G (n.*1+27541T>G)
c.1029A>C (p.Arg343=)
c.960A>C (p.Arg320=)
n.1478+24015T>G
9g.4576638A>GCA463728517SLC1A1,SPATA6Lc.1068A>G (p.Arg356=)
c.355A>G
c.*782-22250T>C (n.*782-22250T>C)
c.1137A>G (p.Arg379=)
c.1077A>G (p.Arg359=)
c.1008A>G (p.Arg336=)
c.927A>G (p.Arg309=)
c.*1+27541T>C (n.*1+27541T>C)
c.1029A>G (p.Arg343=)
c.960A>G (p.Arg320=)
n.1478+24015T>C
9g.4576638A>TCA463728519SLC1A1,SPATA6Lc.1068A>T (p.Arg356=)
c.355A>T
c.*782-22250T>A (n.*782-22250T>A)
c.1137A>T (p.Arg379=)
c.1077A>T (p.Arg359=)
c.1008A>T (p.Arg336=)
c.927A>T (p.Arg309=)
c.*1+27541T>A (n.*1+27541T>A)
c.1029A>T (p.Arg343=)
c.960A>T (p.Arg320=)
n.1478+24015T>A
 gnomAD v4
9g.4576639T>ACA372818410SLC1A1,SPATA6Lc.1069T>A (p.Phe357Ile)
c.356T>A
c.*782-22251A>T (n.*782-22251A>T)
c.1138T>A (p.Phe380Ile)
c.1078T>A (p.Phe360Ile)
c.1009T>A (p.Phe337Ile)
c.928T>A (p.Phe310Ile)
c.*1+27540A>T (n.*1+27540A>T)
c.1030T>A (p.Phe344Ile)
c.961T>A (p.Phe321Ile)
n.1478+24014A>T
9g.4576639T>CCA372818411SLC1A1,SPATA6Lc.1069T>C (p.Phe357Leu)
c.356T>C
c.*782-22251A>G (n.*782-22251A>G)
c.1138T>C (p.Phe380Leu)
c.1078T>C (p.Phe360Leu)
c.1009T>C (p.Phe337Leu)
c.928T>C (p.Phe310Leu)
c.*1+27540A>G (n.*1+27540A>G)
c.1030T>C (p.Phe344Leu)
c.961T>C (p.Phe321Leu)
n.1478+24014A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.4576639T>GCA372818412SLC1A1,SPATA6Lc.1069T>G (p.Phe357Val)
c.356T>G
c.*782-22251A>C (n.*782-22251A>C)
c.1138T>G (p.Phe380Val)
c.1078T>G (p.Phe360Val)
c.1009T>G (p.Phe337Val)
c.928T>G (p.Phe310Val)
c.*1+27540A>C (n.*1+27540A>C)
c.1030T>G (p.Phe344Val)
c.961T>G (p.Phe321Val)
n.1478+24014A>C
9g.4576639T=CA1829385497SLC1A1,SPATA6Lc.1069T= (p.Phe357=)
c.356T=
c.*782-22251A= (n.*782-22251A=)
c.1138T= (p.Phe380=)
c.1078T= (p.Phe360=)
c.1009T= (p.Phe337=)
c.928T= (p.Phe310=)
c.*1+27540A= (n.*1+27540A=)
c.1030T= (p.Phe344=)
c.961T= (p.Phe321=)
n.1478+24014A=
9g.4576640T>ACA372818413SLC1A1,SPATA6Lc.1070T>A (p.Phe357Tyr)
c.357T>A
c.*782-22252A>T (n.*782-22252A>T)
c.1139T>A (p.Phe380Tyr)
c.1079T>A (p.Phe360Tyr)
c.1010T>A (p.Phe337Tyr)
c.929T>A (p.Phe310Tyr)
c.*1+27539A>T (n.*1+27539A>T)
c.1031T>A (p.Phe344Tyr)
c.962T>A (p.Phe321Tyr)
n.1478+24013A>T
 dbSNP gnomAD v3 gnomAD v4
9g.4576640T>CCA372818414SLC1A1,SPATA6Lc.1070T>C (p.Phe357Ser)
c.357T>C
c.*782-22252A>G (n.*782-22252A>G)
c.1139T>C (p.Phe380Ser)
c.1079T>C (p.Phe360Ser)
c.1010T>C (p.Phe337Ser)
c.929T>C (p.Phe310Ser)
c.*1+27539A>G (n.*1+27539A>G)
c.1031T>C (p.Phe344Ser)
c.962T>C (p.Phe321Ser)
n.1478+24013A>G
9g.4576640T>GCA372818415SLC1A1,SPATA6Lc.1070T>G (p.Phe357Cys)
c.357T>G
c.*782-22252A>C (n.*782-22252A>C)
c.1139T>G (p.Phe380Cys)
c.1079T>G (p.Phe360Cys)
c.1010T>G (p.Phe337Cys)
c.929T>G (p.Phe310Cys)
c.*1+27539A>C (n.*1+27539A>C)
c.1031T>G (p.Phe344Cys)
c.962T>G (p.Phe321Cys)
n.1478+24013A>C
9g.4576640T=CA1829385500SLC1A1,SPATA6Lc.1070T= (p.Phe357=)
c.357T=
c.*782-22252A= (n.*782-22252A=)
c.1139T= (p.Phe380=)
c.1079T= (p.Phe360=)
c.1010T= (p.Phe337=)
c.929T= (p.Phe310=)
c.*1+27539A= (n.*1+27539A=)
c.1031T= (p.Phe344=)
c.962T= (p.Phe321=)
n.1478+24013A=
9g.4576641C>ACA4969220SLC1A1,SPATA6Lc.1071C>A (p.Phe357Leu)
c.358C>A
c.*782-22253G>T (n.*782-22253G>T)
c.1140C>A (p.Phe380Leu)
c.1080C>A (p.Phe360Leu)
c.1011C>A (p.Phe337Leu)
c.930C>A (p.Phe310Leu)
c.*1+27538G>T (n.*1+27538G>T)
c.1032C>A (p.Phe344Leu)
c.963C>A (p.Phe321Leu)
n.1478+24012G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576641C=CA1829385504SLC1A1,SPATA6Lc.1071C= (p.Phe357=)
c.358C=
c.*782-22253G= (n.*782-22253G=)
c.1140C= (p.Phe380=)
c.1080C= (p.Phe360=)
c.1011C= (p.Phe337=)
c.930C= (p.Phe310=)
c.*1+27538G= (n.*1+27538G=)
c.1032C= (p.Phe344=)
c.963C= (p.Phe321=)
n.1478+24012G=
9g.4576641C>GCA372818416SLC1A1,SPATA6Lc.1071C>G (p.Phe357Leu)
c.358C>G
c.*782-22253G>C (n.*782-22253G>C)
c.1140C>G (p.Phe380Leu)
c.1080C>G (p.Phe360Leu)
c.1011C>G (p.Phe337Leu)
c.930C>G (p.Phe310Leu)
c.*1+27538G>C (n.*1+27538G>C)
c.1032C>G (p.Phe344Leu)
c.963C>G (p.Phe321Leu)
n.1478+24012G>C
9g.4576641C>TCA4969221SLC1A1,SPATA6Lc.1071C>T (p.Phe357=)
c.358C>T
c.*782-22253G>A (n.*782-22253G>A)
c.1140C>T (p.Phe380=)
c.1080C>T (p.Phe360=)
c.1011C>T (p.Phe337=)
c.930C>T (p.Phe310=)
c.*1+27538G>A (n.*1+27538G>A)
c.1032C>T (p.Phe344=)
c.963C>T (p.Phe321=)
n.1478+24012G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.4576642G>ACA4969222SLC1A1,SPATA6Lc.1072G>A (p.Val358Met)
c.359G>A
c.*782-22254C>T (n.*782-22254C>T)
c.1141G>A (p.Val381Met)
c.1081G>A (p.Val361Met)
c.1012G>A (p.Val338Met)
c.931G>A (p.Val311Met)
c.*1+27537C>T (n.*1+27537C>T)
c.1033G>A (p.Val345Met)
c.964G>A (p.Val322Met)
n.1478+24011C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576642G>CCA372818417SLC1A1,SPATA6Lc.1072G>C (p.Val358Leu)
c.359G>C
c.*782-22254C>G (n.*782-22254C>G)
c.1141G>C (p.Val381Leu)
c.1081G>C (p.Val361Leu)
c.1012G>C (p.Val338Leu)
c.931G>C (p.Val311Leu)
c.*1+27537C>G (n.*1+27537C>G)
c.1033G>C (p.Val345Leu)
c.964G>C (p.Val322Leu)
n.1478+24011C>G
 COSMIC
9g.4576642G=CA1829385508SLC1A1,SPATA6Lc.1072G= (p.Val358=)
c.359G=
c.*782-22254C= (n.*782-22254C=)
c.1141G= (p.Val381=)
c.1081G= (p.Val361=)
c.1012G= (p.Val338=)
c.931G= (p.Val311=)
c.*1+27537C= (n.*1+27537C=)
c.1033G= (p.Val345=)
c.964G= (p.Val322=)
n.1478+24011C=
9g.4576642G>TCA4969223SLC1A1,SPATA6Lc.1072G>T (p.Val358Leu)
c.359G>T
c.*782-22254C>A (n.*782-22254C>A)
c.1141G>T (p.Val381Leu)
c.1081G>T (p.Val361Leu)
c.1012G>T (p.Val338Leu)
c.931G>T (p.Val311Leu)
c.*1+27537C>A (n.*1+27537C>A)
c.1033G>T (p.Val345Leu)
c.964G>T (p.Val322Leu)
n.1478+24011C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.4576643T>ACA372818418SLC1A1,SPATA6Lc.1073T>A (p.Val358Glu)
c.360T>A
c.*782-22255A>T (n.*782-22255A>T)
c.1142T>A (p.Val381Glu)
c.1082T>A (p.Val361Glu)
c.1013T>A (p.Val338Glu)
c.932T>A (p.Val311Glu)
c.*1+27536A>T (n.*1+27536A>T)
c.1034T>A (p.Val345Glu)
c.965T>A (p.Val322Glu)
n.1478+24010A>T
9g.4576643T>CCA372818419SLC1A1,SPATA6Lc.1073T>C (p.Val358Ala)
c.360T>C
c.*782-22255A>G (n.*782-22255A>G)
c.1142T>C (p.Val381Ala)
c.1082T>C (p.Val361Ala)
c.1013T>C (p.Val338Ala)
c.932T>C (p.Val311Ala)
c.*1+27536A>G (n.*1+27536A>G)
c.1034T>C (p.Val345Ala)
c.965T>C (p.Val322Ala)
n.1478+24010A>G
 dbSNP
9g.4576643T>GCA372818420SLC1A1,SPATA6Lc.1073T>G (p.Val358Gly)
c.360T>G
c.*782-22255A>C (n.*782-22255A>C)
c.1142T>G (p.Val381Gly)
c.1082T>G (p.Val361Gly)
c.1013T>G (p.Val338Gly)
c.932T>G (p.Val311Gly)
c.*1+27536A>C (n.*1+27536A>C)
c.1034T>G (p.Val345Gly)
c.965T>G (p.Val322Gly)
n.1478+24010A>C
9g.4576643T=CA1829385510SLC1A1,SPATA6Lc.1073T= (p.Val358=)
c.360T=
c.*782-22255A= (n.*782-22255A=)
c.1142T= (p.Val381=)
c.1082T= (p.Val361=)
c.1013T= (p.Val338=)
c.932T= (p.Val311=)
c.*1+27536A= (n.*1+27536A=)
c.1034T= (p.Val345=)
c.965T= (p.Val322=)
n.1478+24010A=
9g.4576644G>ACA463728540SLC1A1,SPATA6Lc.1074G>A (p.Val358=)
c.361G>A
c.*782-22256C>T (n.*782-22256C>T)
c.1143G>A (p.Val381=)
c.1083G>A (p.Val361=)
c.1014G>A (p.Val338=)
c.933G>A (p.Val311=)
c.*1+27535C>T (n.*1+27535C>T)
c.1035G>A (p.Val345=)
c.966G>A (p.Val322=)
n.1478+24009C>T
9g.4576644G>CCA463728542SLC1A1,SPATA6Lc.1074G>C (p.Val358=)
c.361G>C
c.*782-22256C>G (n.*782-22256C>G)
c.1143G>C (p.Val381=)
c.1083G>C (p.Val361=)
c.1014G>C (p.Val338=)
c.933G>C (p.Val311=)
c.*1+27535C>G (n.*1+27535C>G)
c.1035G>C (p.Val345=)
c.966G>C (p.Val322=)
n.1478+24009C>G
9g.4576644G>TCA463728544SLC1A1,SPATA6Lc.1074G>T (p.Val358=)
c.361G>T
c.*782-22256C>A (n.*782-22256C>A)
c.1143G>T (p.Val381=)
c.1083G>T (p.Val361=)
c.1014G>T (p.Val338=)
c.933G>T (p.Val311=)
c.*1+27535C>A (n.*1+27535C>A)
c.1035G>T (p.Val345=)
c.966G>T (p.Val322=)
n.1478+24009C>A
9g.4576645T>ACA372818421SLC1A1,SPATA6Lc.1075T>A (p.Leu359Ile)
c.362T>A
c.*782-22257A>T (n.*782-22257A>T)
c.1144T>A (p.Leu382Ile)
c.1084T>A (p.Leu362Ile)
c.1015T>A (p.Leu339Ile)
c.934T>A (p.Leu312Ile)
c.*1+27534A>T (n.*1+27534A>T)
c.1036T>A (p.Leu346Ile)
c.967T>A (p.Leu323Ile)
n.1478+24008A>T
9g.4576645T>CCA463728547SLC1A1,SPATA6Lc.1075T>C (p.Leu359=)
c.362T>C
c.*782-22257A>G (n.*782-22257A>G)
c.1144T>C (p.Leu382=)
c.1084T>C (p.Leu362=)
c.1015T>C (p.Leu339=)
c.934T>C (p.Leu312=)
c.*1+27534A>G (n.*1+27534A>G)
c.1036T>C (p.Leu346=)
c.967T>C (p.Leu323=)
n.1478+24008A>G
9g.4576645T>GCA372818422SLC1A1,SPATA6Lc.1075T>G (p.Leu359Val)
c.362T>G
c.*782-22257A>C (n.*782-22257A>C)
c.1144T>G (p.Leu382Val)
c.1084T>G (p.Leu362Val)
c.1015T>G (p.Leu339Val)
c.934T>G (p.Leu312Val)
c.*1+27534A>C (n.*1+27534A>C)
c.1036T>G (p.Leu346Val)
c.967T>G (p.Leu323Val)
n.1478+24008A>C
9g.4576646T>ACA372818423SLC1A1,SPATA6Lc.1076T>A (p.Leu359Ter)
c.363T>A
c.*782-22258A>T (n.*782-22258A>T)
c.1145T>A (p.Leu382Ter)
c.1085T>A (p.Leu362Ter)
c.1016T>A (p.Leu339Ter)
c.935T>A (p.Leu312Ter)
c.*1+27533A>T (n.*1+27533A>T)
c.1037T>A (p.Leu346Ter)
c.968T>A (p.Leu323Ter)
n.1478+24007A>T
9g.4576646T>CCA372818424SLC1A1,SPATA6Lc.1076T>C (p.Leu359Ser)
c.363T>C
c.*782-22258A>G (n.*782-22258A>G)
c.1145T>C (p.Leu382Ser)
c.1085T>C (p.Leu362Ser)
c.1016T>C (p.Leu339Ser)
c.935T>C (p.Leu312Ser)
c.*1+27533A>G (n.*1+27533A>G)
c.1037T>C (p.Leu346Ser)
c.968T>C (p.Leu323Ser)
n.1478+24007A>G
 gnomAD v4
9g.4576646T>GCA372818425SLC1A1,SPATA6Lc.1076T>G (p.Leu359Ter)
c.363T>G
c.*782-22258A>C (n.*782-22258A>C)
c.1145T>G (p.Leu382Ter)
c.1085T>G (p.Leu362Ter)
c.1016T>G (p.Leu339Ter)
c.935T>G (p.Leu312Ter)
c.*1+27533A>C (n.*1+27533A>C)
c.1037T>G (p.Leu346Ter)
c.968T>G (p.Leu323Ter)
n.1478+24007A>C
 COSMIC
9g.4576647A>CCA372818426SLC1A1,SPATA6Lc.1077A>C (p.Leu359Phe)
c.364A>C
c.*782-22259T>G (n.*782-22259T>G)
c.1146A>C (p.Leu382Phe)
c.1086A>C (p.Leu362Phe)
c.1017A>C (p.Leu339Phe)
c.936A>C (p.Leu312Phe)
c.*1+27532T>G (n.*1+27532T>G)
c.1038A>C (p.Leu346Phe)
c.969A>C (p.Leu323Phe)
n.1478+24006T>G
9g.4576647A>GCA463728556SLC1A1,SPATA6Lc.1077A>G (p.Leu359=)
c.364A>G
c.*782-22259T>C (n.*782-22259T>C)
c.1146A>G (p.Leu382=)
c.1086A>G (p.Leu362=)
c.1017A>G (p.Leu339=)
c.936A>G (p.Leu312=)
c.*1+27532T>C (n.*1+27532T>C)
c.1038A>G (p.Leu346=)
c.969A>G (p.Leu323=)
n.1478+24006T>C
9g.4576647A>TCA372818427SLC1A1,SPATA6Lc.1077A>T (p.Leu359Phe)
c.364A>T
c.*782-22259T>A (n.*782-22259T>A)
c.1146A>T (p.Leu382Phe)
c.1086A>T (p.Leu362Phe)
c.1017A>T (p.Leu339Phe)
c.936A>T (p.Leu312Phe)
c.*1+27532T>A (n.*1+27532T>A)
c.1038A>T (p.Leu346Phe)
c.969A>T (p.Leu323Phe)
n.1478+24006T>A
9g.4576648C>ACA4969225SLC1A1,SPATA6Lc.1078C>A (p.Pro360Thr)
c.365C>A
c.*782-22260G>T (n.*782-22260G>T)
c.1147C>A (p.Pro383Thr)
c.1087C>A (p.Pro363Thr)
c.1018C>A (p.Pro340Thr)
c.937C>A (p.Pro313Thr)
c.*1+27531G>T (n.*1+27531G>T)
c.1039C>A (p.Pro347Thr)
c.970C>A (p.Pro324Thr)
n.1478+24005G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576648C=CA1829385513SLC1A1,SPATA6Lc.1078C= (p.Pro360=)
c.365C=
c.*782-22260G= (n.*782-22260G=)
c.1147C= (p.Pro383=)
c.1087C= (p.Pro363=)
c.1018C= (p.Pro340=)
c.937C= (p.Pro313=)
c.*1+27531G= (n.*1+27531G=)
c.1039C= (p.Pro347=)
c.970C= (p.Pro324=)
n.1478+24005G=
9g.4576648C>GCA372818428SLC1A1,SPATA6Lc.1078C>G (p.Pro360Ala)
c.365C>G
c.*782-22260G>C (n.*782-22260G>C)
c.1147C>G (p.Pro383Ala)
c.1087C>G (p.Pro363Ala)
c.1018C>G (p.Pro340Ala)
c.937C>G (p.Pro313Ala)
c.*1+27531G>C (n.*1+27531G>C)
c.1039C>G (p.Pro347Ala)
c.970C>G (p.Pro324Ala)
n.1478+24005G>C
 gnomAD v4
9g.4576648C>TCA4969224SLC1A1,SPATA6Lc.1078C>T (p.Pro360Ser)
c.365C>T
c.*782-22260G>A (n.*782-22260G>A)
c.1147C>T (p.Pro383Ser)
c.1087C>T (p.Pro363Ser)
c.1018C>T (p.Pro340Ser)
c.937C>T (p.Pro313Ser)
c.*1+27531G>A (n.*1+27531G>A)
c.1039C>T (p.Pro347Ser)
c.970C>T (p.Pro324Ser)
n.1478+24005G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576649C>ACA372818429SLC1A1,SPATA6Lc.1079C>A (p.Pro360His)
c.366C>A
c.*782-22261G>T (n.*782-22261G>T)
c.1148C>A (p.Pro383His)
c.1088C>A (p.Pro363His)
c.1019C>A (p.Pro340His)
c.938C>A (p.Pro313His)
c.*1+27530G>T (n.*1+27530G>T)
c.1040C>A (p.Pro347His)
c.971C>A (p.Pro324His)
n.1478+24004G>T
9g.4576649C=CA1829385517SLC1A1,SPATA6Lc.1079C= (p.Pro360=)
c.366C=
c.*782-22261G= (n.*782-22261G=)
c.1148C= (p.Pro383=)
c.1088C= (p.Pro363=)
c.1019C= (p.Pro340=)
c.938C= (p.Pro313=)
c.*1+27530G= (n.*1+27530G=)
c.1040C= (p.Pro347=)
c.971C= (p.Pro324=)
n.1478+24004G=
9g.4576649C>GCA372818430SLC1A1,SPATA6Lc.1079C>G (p.Pro360Arg)
c.366C>G
c.*782-22261G>C (n.*782-22261G>C)
c.1148C>G (p.Pro383Arg)
c.1088C>G (p.Pro363Arg)
c.1019C>G (p.Pro340Arg)
c.938C>G (p.Pro313Arg)
c.*1+27530G>C (n.*1+27530G>C)
c.1040C>G (p.Pro347Arg)
c.971C>G (p.Pro324Arg)
n.1478+24004G>C
9g.4576649C>TCA372818431SLC1A1,SPATA6Lc.1079C>T (p.Pro360Leu)
c.366C>T
c.*782-22261G>A (n.*782-22261G>A)
c.1148C>T (p.Pro383Leu)
c.1088C>T (p.Pro363Leu)
c.1019C>T (p.Pro340Leu)
c.938C>T (p.Pro313Leu)
c.*1+27530G>A (n.*1+27530G>A)
c.1040C>T (p.Pro347Leu)
c.971C>T (p.Pro324Leu)
n.1478+24004G>A
 dbSNP gnomAD v4
9g.4576650C>ACA463728568SLC1A1,SPATA6Lc.1080C>A (p.Pro360=)
c.367C>A
c.*782-22262G>T (n.*782-22262G>T)
c.1149C>A (p.Pro383=)
c.1089C>A (p.Pro363=)
c.1020C>A (p.Pro340=)
c.939C>A (p.Pro313=)
c.*1+27529G>T (n.*1+27529G>T)
c.1041C>A (p.Pro347=)
c.972C>A (p.Pro324=)
n.1478+24003G>T
9g.4576650C=CA1829385519SLC1A1,SPATA6Lc.1080C= (p.Pro360=)
c.367C=
c.*782-22262G= (n.*782-22262G=)
c.1149C= (p.Pro383=)
c.1089C= (p.Pro363=)
c.1020C= (p.Pro340=)
c.939C= (p.Pro313=)
c.*1+27529G= (n.*1+27529G=)
c.1041C= (p.Pro347=)
c.972C= (p.Pro324=)
n.1478+24003G=
9g.4576650C>GCA463728564SLC1A1,SPATA6Lc.1080C>G (p.Pro360=)
c.367C>G
c.*782-22262G>C (n.*782-22262G>C)
c.1149C>G (p.Pro383=)
c.1089C>G (p.Pro363=)
c.1020C>G (p.Pro340=)
c.939C>G (p.Pro313=)
c.*1+27529G>C (n.*1+27529G>C)
c.1041C>G (p.Pro347=)
c.972C>G (p.Pro324=)
n.1478+24003G>C
9g.4576650C>TCA4969226SLC1A1,SPATA6Lc.1080C>T (p.Pro360=)
c.367C>T
c.*782-22262G>A (n.*782-22262G>A)
c.1149C>T (p.Pro383=)
c.1089C>T (p.Pro363=)
c.1020C>T (p.Pro340=)
c.939C>T (p.Pro313=)
c.*1+27529G>A (n.*1+27529G>A)
c.1041C>T (p.Pro347=)
c.972C>T (p.Pro324=)
n.1478+24003G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.4576651G>ACA4969227SLC1A1,SPATA6Lc.1081G>A (p.Val361Ile)
c.368G>A
c.*782-22263C>T (n.*782-22263C>T)
c.1150G>A (p.Val384Ile)
c.1090G>A (p.Val364Ile)
c.1021G>A (p.Val341Ile)
c.940G>A (p.Val314Ile)
c.*1+27528C>T (n.*1+27528C>T)
c.1042G>A (p.Val348Ile)
c.973G>A (p.Val325Ile)
n.1478+24002C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576651G>CCA372818432SLC1A1,SPATA6Lc.1081G>C (p.Val361Leu)
c.368G>C
c.*782-22263C>G (n.*782-22263C>G)
c.1150G>C (p.Val384Leu)
c.1090G>C (p.Val364Leu)
c.1021G>C (p.Val341Leu)
c.940G>C (p.Val314Leu)
c.*1+27528C>G (n.*1+27528C>G)
c.1042G>C (p.Val348Leu)
c.973G>C (p.Val325Leu)
n.1478+24002C>G
9g.4576651G=CA1829385521SLC1A1,SPATA6Lc.1081G= (p.Val361=)
c.368G=
c.*782-22263C= (n.*782-22263C=)
c.1150G= (p.Val384=)
c.1090G= (p.Val364=)
c.1021G= (p.Val341=)
c.940G= (p.Val314=)
c.*1+27528C= (n.*1+27528C=)
c.1042G= (p.Val348=)
c.973G= (p.Val325=)
n.1478+24002C=
9g.4576651G>TCA372818433SLC1A1,SPATA6Lc.1081G>T (p.Val361Phe)
c.368G>T
c.*782-22263C>A (n.*782-22263C>A)
c.1150G>T (p.Val384Phe)
c.1090G>T (p.Val364Phe)
c.1021G>T (p.Val341Phe)
c.940G>T (p.Val314Phe)
c.*1+27528C>A (n.*1+27528C>A)
c.1042G>T (p.Val348Phe)
c.973G>T (p.Val325Phe)
n.1478+24002C>A
 gnomAD v4
9g.4576652T>ACA372818434SLC1A1,SPATA6Lc.1082T>A (p.Val361Asp)
c.369T>A
c.*782-22264A>T (n.*782-22264A>T)
c.1151T>A (p.Val384Asp)
c.1091T>A (p.Val364Asp)
c.1022T>A (p.Val341Asp)
c.941T>A (p.Val314Asp)
c.*1+27527A>T (n.*1+27527A>T)
c.1043T>A (p.Val348Asp)
c.974T>A (p.Val325Asp)
n.1478+24001A>T
9g.4576652T>CCA372818435SLC1A1,SPATA6Lc.1082T>C (p.Val361Ala)
c.369T>C
c.*782-22264A>G (n.*782-22264A>G)
c.1151T>C (p.Val384Ala)
c.1091T>C (p.Val364Ala)
c.1022T>C (p.Val341Ala)
c.941T>C (p.Val314Ala)
c.*1+27527A>G (n.*1+27527A>G)
c.1043T>C (p.Val348Ala)
c.974T>C (p.Val325Ala)
n.1478+24001A>G
 dbSNP gnomAD v2 gnomAD v4
9g.4576652T>GCA372818436SLC1A1,SPATA6Lc.1082T>G (p.Val361Gly)
c.369T>G
c.*782-22264A>C (n.*782-22264A>C)
c.1151T>G (p.Val384Gly)
c.1091T>G (p.Val364Gly)
c.1022T>G (p.Val341Gly)
c.941T>G (p.Val314Gly)
c.*1+27527A>C (n.*1+27527A>C)
c.1043T>G (p.Val348Gly)
c.974T>G (p.Val325Gly)
n.1478+24001A>C
9g.4576652T=CA1829385524SLC1A1,SPATA6Lc.1082T= (p.Val361=)
c.369T=
c.*782-22264A= (n.*782-22264A=)
c.1151T= (p.Val384=)
c.1091T= (p.Val364=)
c.1022T= (p.Val341=)
c.941T= (p.Val314=)
c.*1+27527A= (n.*1+27527A=)
c.1043T= (p.Val348=)
c.974T= (p.Val325=)
n.1478+24001A=
9g.4576653T>ACA463728576SLC1A1,SPATA6Lc.1083T>A (p.Val361=)
c.370T>A
c.*782-22265A>T (n.*782-22265A>T)
c.1152T>A (p.Val384=)
c.1092T>A (p.Val364=)
c.1023T>A (p.Val341=)
c.942T>A (p.Val314=)
c.*1+27526A>T (n.*1+27526A>T)
c.1044T>A (p.Val348=)
c.975T>A (p.Val325=)
n.1478+24000A>T
9g.4576653T>CCA463728580SLC1A1,SPATA6Lc.1083T>C (p.Val361=)
c.370T>C
c.*782-22265A>G (n.*782-22265A>G)
c.1152T>C (p.Val384=)
c.1092T>C (p.Val364=)
c.1023T>C (p.Val341=)
c.942T>C (p.Val314=)
c.*1+27526A>G (n.*1+27526A>G)
c.1044T>C (p.Val348=)
c.975T>C (p.Val325=)
n.1478+24000A>G
 gnomAD v4
9g.4576653T>GCA463728578SLC1A1,SPATA6Lc.1083T>G (p.Val361=)
c.370T>G
c.*782-22265A>C (n.*782-22265A>C)
c.1152T>G (p.Val384=)
c.1092T>G (p.Val364=)
c.1023T>G (p.Val341=)
c.942T>G (p.Val314=)
c.*1+27526A>C (n.*1+27526A>C)
c.1044T>G (p.Val348=)
c.975T>G (p.Val325=)
n.1478+24000A>C
 gnomAD v4
9g.4576654G>ACA372818437SLC1A1,SPATA6Lc.1084G>A (p.Gly362Ser)
c.371G>A
c.*782-22266C>T (n.*782-22266C>T)
c.1153G>A (p.Gly385Ser)
c.1093G>A (p.Gly365Ser)
c.1024G>A (p.Gly342Ser)
c.943G>A (p.Gly315Ser)
c.*1+27525C>T (n.*1+27525C>T)
c.1045G>A (p.Gly349Ser)
c.976G>A (p.Gly326Ser)
n.1478+23999C>T
9g.4576654G>CCA372818438SLC1A1,SPATA6Lc.1084G>C (p.Gly362Arg)
c.371G>C
c.*782-22266C>G (n.*782-22266C>G)
c.1153G>C (p.Gly385Arg)
c.1093G>C (p.Gly365Arg)
c.1024G>C (p.Gly342Arg)
c.943G>C (p.Gly315Arg)
c.*1+27525C>G (n.*1+27525C>G)
c.1045G>C (p.Gly349Arg)
c.976G>C (p.Gly326Arg)
n.1478+23999C>G
9g.4576654G>TCA372818439SLC1A1,SPATA6Lc.1084G>T (p.Gly362Cys)
c.371G>T
c.*782-22266C>A (n.*782-22266C>A)
c.1153G>T (p.Gly385Cys)
c.1093G>T (p.Gly365Cys)
c.1024G>T (p.Gly342Cys)
c.943G>T (p.Gly315Cys)
c.*1+27525C>A (n.*1+27525C>A)
c.1045G>T (p.Gly349Cys)
c.976G>T (p.Gly326Cys)
n.1478+23999C>A
 gnomAD v4
9g.4576655G>ACA372818442SLC1A1,SPATA6Lc.1085G>A (p.Gly362Asp)
c.372G>A
c.*782-22267C>T (n.*782-22267C>T)
c.1154G>A (p.Gly385Asp)
c.1094G>A (p.Gly365Asp)
c.1025G>A (p.Gly342Asp)
c.944G>A (p.Gly315Asp)
c.*1+27524C>T (n.*1+27524C>T)
c.1046G>A (p.Gly349Asp)
c.977G>A (p.Gly326Asp)
n.1478+23998C>T
 dbSNP gnomAD v3 gnomAD v4
9g.4576655G>CCA372818441SLC1A1,SPATA6Lc.1085G>C (p.Gly362Ala)
c.372G>C
c.*782-22267C>G (n.*782-22267C>G)
c.1154G>C (p.Gly385Ala)
c.1094G>C (p.Gly365Ala)
c.1025G>C (p.Gly342Ala)
c.944G>C (p.Gly315Ala)
c.*1+27524C>G (n.*1+27524C>G)
c.1046G>C (p.Gly349Ala)
c.977G>C (p.Gly326Ala)
n.1478+23998C>G
 gnomAD v4
9g.4576655G=CA1829385528SLC1A1,SPATA6Lc.1085G= (p.Gly362=)
c.372G=
c.*782-22267C= (n.*782-22267C=)
c.1154G= (p.Gly385=)
c.1094G= (p.Gly365=)
c.1025G= (p.Gly342=)
c.944G= (p.Gly315=)
c.*1+27524C= (n.*1+27524C=)
c.1046G= (p.Gly349=)
c.977G= (p.Gly326=)
n.1478+23998C=
9g.4576655G>TCA372818440SLC1A1,SPATA6Lc.1085G>T (p.Gly362Val)
c.372G>T
c.*782-22267C>A (n.*782-22267C>A)
c.1154G>T (p.Gly385Val)
c.1094G>T (p.Gly365Val)
c.1025G>T (p.Gly342Val)
c.944G>T (p.Gly315Val)
c.*1+27524C>A (n.*1+27524C>A)
c.1046G>T (p.Gly349Val)
c.977G>T (p.Gly326Val)
n.1478+23998C>A
9g.4576656T>ACA463728589SLC1A1,SPATA6Lc.1086T>A (p.Gly362=)
c.373T>A
c.*782-22268A>T (n.*782-22268A>T)
c.1155T>A (p.Gly385=)
c.1095T>A (p.Gly365=)
c.1026T>A (p.Gly342=)
c.945T>A (p.Gly315=)
c.*1+27523A>T (n.*1+27523A>T)
c.1047T>A (p.Gly349=)
c.978T>A (p.Gly326=)
n.1478+23997A>T
9g.4576656T>CCA463728591SLC1A1,SPATA6Lc.1086T>C (p.Gly362=)
c.373T>C
c.*782-22268A>G (n.*782-22268A>G)
c.1155T>C (p.Gly385=)
c.1095T>C (p.Gly365=)
c.1026T>C (p.Gly342=)
c.945T>C (p.Gly315=)
c.*1+27523A>G (n.*1+27523A>G)
c.1047T>C (p.Gly349=)
c.978T>C (p.Gly326=)
n.1478+23997A>G
 dbSNP gnomAD v4
9g.4576656T>GCA463728592SLC1A1,SPATA6Lc.1086T>G (p.Gly362=)
c.373T>G
c.*782-22268A>C (n.*782-22268A>C)
c.1155T>G (p.Gly385=)
c.1095T>G (p.Gly365=)
c.1026T>G (p.Gly342=)
c.945T>G (p.Gly315=)
c.*1+27523A>C (n.*1+27523A>C)
c.1047T>G (p.Gly349=)
c.978T>G (p.Gly326=)
n.1478+23997A>C
9g.4576656T=CA1829385530SLC1A1,SPATA6Lc.1086T= (p.Gly362=)
c.373T=
c.*782-22268A= (n.*782-22268A=)
c.1155T= (p.Gly385=)
c.1095T= (p.Gly365=)
c.1026T= (p.Gly342=)
c.945T= (p.Gly315=)
c.*1+27523A= (n.*1+27523A=)
c.1047T= (p.Gly349=)
c.978T= (p.Gly326=)
n.1478+23997A=
9g.4576657G>ACA4969228SLC1A1,SPATA6Lc.1087G>A (p.Ala363Thr)
c.374G>A
c.*782-22269C>T (n.*782-22269C>T)
c.1156G>A (p.Ala386Thr)
c.1096G>A (p.Ala366Thr)
c.1027G>A (p.Ala343Thr)
c.946G>A (p.Ala316Thr)
c.*1+27522C>T (n.*1+27522C>T)
c.1048G>A (p.Ala350Thr)
c.979G>A (p.Ala327Thr)
n.1478+23996C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576657G>CCA372818443SLC1A1,SPATA6Lc.1087G>C (p.Ala363Pro)
c.374G>C
c.*782-22269C>G (n.*782-22269C>G)
c.1156G>C (p.Ala386Pro)
c.1096G>C (p.Ala366Pro)
c.1027G>C (p.Ala343Pro)
c.946G>C (p.Ala316Pro)
c.*1+27522C>G (n.*1+27522C>G)
c.1048G>C (p.Ala350Pro)
c.979G>C (p.Ala327Pro)
n.1478+23996C>G
9g.4576657G=CA1829385534SLC1A1,SPATA6Lc.1087G= (p.Ala363=)
c.374G=
c.*782-22269C= (n.*782-22269C=)
c.1156G= (p.Ala386=)
c.1096G= (p.Ala366=)
c.1027G= (p.Ala343=)
c.946G= (p.Ala316=)
c.*1+27522C= (n.*1+27522C=)
c.1048G= (p.Ala350=)
c.979G= (p.Ala327=)
n.1478+23996C=
9g.4576657G>TCA372818444SLC1A1,SPATA6Lc.1087G>T (p.Ala363Ser)
c.374G>T
c.*782-22269C>A (n.*782-22269C>A)
c.1156G>T (p.Ala386Ser)
c.1096G>T (p.Ala366Ser)
c.1027G>T (p.Ala343Ser)
c.946G>T (p.Ala316Ser)
c.*1+27522C>A (n.*1+27522C>A)
c.1048G>T (p.Ala350Ser)
c.979G>T (p.Ala327Ser)
n.1478+23996C>A
9g.4576658C>ACA372818445SLC1A1,SPATA6Lc.1088C>A (p.Ala363Glu)
c.375C>A
c.*782-22270G>T (n.*782-22270G>T)
c.1157C>A (p.Ala386Glu)
c.1097C>A (p.Ala366Glu)
c.1028C>A (p.Ala343Glu)
c.947C>A (p.Ala316Glu)
c.*1+27521G>T (n.*1+27521G>T)
c.1049C>A (p.Ala350Glu)
c.980C>A (p.Ala327Glu)
n.1478+23995G>T
9g.4576658C>GCA372818446SLC1A1,SPATA6Lc.1088C>G (p.Ala363Gly)
c.375C>G
c.*782-22270G>C (n.*782-22270G>C)
c.1157C>G (p.Ala386Gly)
c.1097C>G (p.Ala366Gly)
c.1028C>G (p.Ala343Gly)
c.947C>G (p.Ala316Gly)
c.*1+27521G>C (n.*1+27521G>C)
c.1049C>G (p.Ala350Gly)
c.980C>G (p.Ala327Gly)
n.1478+23995G>C
9g.4576658C>TCA372818447SLC1A1,SPATA6Lc.1088C>T (p.Ala363Val)
c.375C>T
c.*782-22270G>A (n.*782-22270G>A)
c.1157C>T (p.Ala386Val)
c.1097C>T (p.Ala366Val)
c.1028C>T (p.Ala343Val)
c.947C>T (p.Ala316Val)
c.*1+27521G>A (n.*1+27521G>A)
c.1049C>T (p.Ala350Val)
c.980C>T (p.Ala327Val)
n.1478+23995G>A
9g.4576659A=CA1829385539SLC1A1,SPATA6Lc.1089A= (p.Ala363=)
c.376A=
c.*782-22271T= (n.*782-22271T=)
c.1158A= (p.Ala386=)
c.1098A= (p.Ala366=)
c.1029A= (p.Ala343=)
c.948A= (p.Ala316=)
c.*1+27520T= (n.*1+27520T=)
c.1050A= (p.Ala350=)
c.981A= (p.Ala327=)
n.1478+23994T=
9g.4576659A>CCA463728593SLC1A1,SPATA6Lc.1089A>C (p.Ala363=)
c.376A>C
c.*782-22271T>G (n.*782-22271T>G)
c.1158A>C (p.Ala386=)
c.1098A>C (p.Ala366=)
c.1029A>C (p.Ala343=)
c.948A>C (p.Ala316=)
c.*1+27520T>G (n.*1+27520T>G)
c.1050A>C (p.Ala350=)
c.981A>C (p.Ala327=)
n.1478+23994T>G
 dbSNP
9g.4576659A>GCA463728594SLC1A1,SPATA6Lc.1089A>G (p.Ala363=)
c.376A>G
c.*782-22271T>C (n.*782-22271T>C)
c.1158A>G (p.Ala386=)
c.1098A>G (p.Ala366=)
c.1029A>G (p.Ala343=)
c.948A>G (p.Ala316=)
c.*1+27520T>C (n.*1+27520T>C)
c.1050A>G (p.Ala350=)
c.981A>G (p.Ala327=)
n.1478+23994T>C
9g.4576659A>TCA463728595SLC1A1,SPATA6Lc.1089A>T (p.Ala363=)
c.376A>T
c.*782-22271T>A (n.*782-22271T>A)
c.1158A>T (p.Ala386=)
c.1098A>T (p.Ala366=)
c.1029A>T (p.Ala343=)
c.948A>T (p.Ala316=)
c.*1+27520T>A (n.*1+27520T>A)
c.1050A>T (p.Ala350=)
c.981A>T (p.Ala327=)
n.1478+23994T>A
9g.4576660A>CCA372818448SLC1A1,SPATA6Lc.1090A>C (p.Thr364Pro)
c.377A>C
c.*782-22272T>G (n.*782-22272T>G)
c.1159A>C (p.Thr387Pro)
c.1099A>C (p.Thr367Pro)
c.1030A>C (p.Thr344Pro)
c.949A>C (p.Thr317Pro)
c.*1+27519T>G (n.*1+27519T>G)
c.1051A>C (p.Thr351Pro)
c.982A>C (p.Thr328Pro)
n.1478+23993T>G
9g.4576660A>GCA372818449SLC1A1,SPATA6Lc.1090A>G (p.Thr364Ala)
c.377A>G
c.*782-22272T>C (n.*782-22272T>C)
c.1159A>G (p.Thr387Ala)
c.1099A>G (p.Thr367Ala)
c.1030A>G (p.Thr344Ala)
c.949A>G (p.Thr317Ala)
c.*1+27519T>C (n.*1+27519T>C)
c.1051A>G (p.Thr351Ala)
c.982A>G (p.Thr328Ala)
n.1478+23993T>C
9g.4576660A>TCA372818450SLC1A1,SPATA6Lc.1090A>T (p.Thr364Ser)
c.377A>T
c.*782-22272T>A (n.*782-22272T>A)
c.1159A>T (p.Thr387Ser)
c.1099A>T (p.Thr367Ser)
c.1030A>T (p.Thr344Ser)
c.949A>T (p.Thr317Ser)
c.*1+27519T>A (n.*1+27519T>A)
c.1051A>T (p.Thr351Ser)
c.982A>T (p.Thr328Ser)
n.1478+23993T>A
9g.4576661C>ACA372818451SLC1A1,SPATA6Lc.1091C>A (p.Thr364Lys)
c.378C>A
c.*782-22273G>T (n.*782-22273G>T)
c.1160C>A (p.Thr387Lys)
c.1100C>A (p.Thr367Lys)
c.1031C>A (p.Thr344Lys)
c.950C>A (p.Thr317Lys)
c.*1+27518G>T (n.*1+27518G>T)
c.1052C>A (p.Thr351Lys)
c.983C>A (p.Thr328Lys)
n.1478+23992G>T
9g.4576661C=CA1829385542SLC1A1,SPATA6Lc.1091C= (p.Thr364=)
c.378C=
c.*782-22273G= (n.*782-22273G=)
c.1160C= (p.Thr387=)
c.1100C= (p.Thr367=)
c.1031C= (p.Thr344=)
c.950C= (p.Thr317=)
c.*1+27518G= (n.*1+27518G=)
c.1052C= (p.Thr351=)
c.983C= (p.Thr328=)
n.1478+23992G=
9g.4576661C>GCA372818452SLC1A1,SPATA6Lc.1091C>G (p.Thr364Arg)
c.378C>G
c.*782-22273G>C (n.*782-22273G>C)
c.1160C>G (p.Thr387Arg)
c.1100C>G (p.Thr367Arg)
c.1031C>G (p.Thr344Arg)
c.950C>G (p.Thr317Arg)
c.*1+27518G>C (n.*1+27518G>C)
c.1052C>G (p.Thr351Arg)
c.983C>G (p.Thr328Arg)
n.1478+23992G>C
9g.4576661C>TCA372818453SLC1A1,SPATA6Lc.1091C>T (p.Thr364Ile)
c.378C>T
c.*782-22273G>A (n.*782-22273G>A)
c.1160C>T (p.Thr387Ile)
c.1100C>T (p.Thr367Ile)
c.1031C>T (p.Thr344Ile)
c.950C>T (p.Thr317Ile)
c.*1+27518G>A (n.*1+27518G>A)
c.1052C>T (p.Thr351Ile)
c.983C>T (p.Thr328Ile)
n.1478+23992G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.4576662A=CA1829385547SLC1A1,SPATA6Lc.1092A= (p.Thr364=)
c.379A=
c.*782-22274T= (n.*782-22274T=)
c.1161A= (p.Thr387=)
c.1101A= (p.Thr367=)
c.1032A= (p.Thr344=)
c.951A= (p.Thr317=)
c.*1+27517T= (n.*1+27517T=)
c.1053A= (p.Thr351=)
c.984A= (p.Thr328=)
n.1478+23991T=
9g.4576662A>CCA4969229SLC1A1,SPATA6Lc.1092A>C (p.Thr364=)
c.379A>C
c.*782-22274T>G (n.*782-22274T>G)
c.1161A>C (p.Thr387=)
c.1101A>C (p.Thr367=)
c.1032A>C (p.Thr344=)
c.951A>C (p.Thr317=)
c.*1+27517T>G (n.*1+27517T>G)
c.1053A>C (p.Thr351=)
c.984A>C (p.Thr328=)
n.1478+23991T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576662A>GCA188358986SLC1A1,SPATA6Lc.1092A>G (p.Thr364=)
c.379A>G
c.*782-22274T>C (n.*782-22274T>C)
c.1161A>G (p.Thr387=)
c.1101A>G (p.Thr367=)
c.1032A>G (p.Thr344=)
c.951A>G (p.Thr317=)
c.*1+27517T>C (n.*1+27517T>C)
c.1053A>G (p.Thr351=)
c.984A>G (p.Thr328=)
n.1478+23991T>C
 dbSNP gnomAD v4
9g.4576662A>TCA463728596SLC1A1,SPATA6Lc.1092A>T (p.Thr364=)
c.379A>T
c.*782-22274T>A (n.*782-22274T>A)
c.1161A>T (p.Thr387=)
c.1101A>T (p.Thr367=)
c.1032A>T (p.Thr344=)
c.951A>T (p.Thr317=)
c.*1+27517T>A (n.*1+27517T>A)
c.1053A>T (p.Thr351=)
c.984A>T (p.Thr328=)
n.1478+23991T>A
9g.4576663A>CCA372818458SLC1A1,SPATA6Lc.1093A>C (p.Ile365Leu)
c.380A>C
c.*782-22275T>G (n.*782-22275T>G)
c.1162A>C (p.Ile388Leu)
c.1102A>C (p.Ile368Leu)
c.1033A>C (p.Ile345Leu)
c.952A>C (p.Ile318Leu)
c.*1+27516T>G (n.*1+27516T>G)
c.1054A>C (p.Ile352Leu)
c.985A>C (p.Ile329Leu)
n.1478+23990T>G
9g.4576663A>GCA372818456SLC1A1,SPATA6Lc.1093A>G (p.Ile365Val)
c.380A>G
c.*782-22275T>C (n.*782-22275T>C)
c.1162A>G (p.Ile388Val)
c.1102A>G (p.Ile368Val)
c.1033A>G (p.Ile345Val)
c.952A>G (p.Ile318Val)
c.*1+27516T>C (n.*1+27516T>C)
c.1054A>G (p.Ile352Val)
c.985A>G (p.Ile329Val)
n.1478+23990T>C
9g.4576663A>TCA372818454SLC1A1,SPATA6Lc.1093A>T (p.Ile365Phe)
c.380A>T
c.*782-22275T>A (n.*782-22275T>A)
c.1162A>T (p.Ile388Phe)
c.1102A>T (p.Ile368Phe)
c.1033A>T (p.Ile345Phe)
c.952A>T (p.Ile318Phe)
c.*1+27516T>A (n.*1+27516T>A)
c.1054A>T (p.Ile352Phe)
c.985A>T (p.Ile329Phe)
n.1478+23990T>A
9g.4576664T>ACA4969230SLC1A1,SPATA6Lc.1094T>A (p.Ile365Asn)
c.381T>A
c.*782-22276A>T (n.*782-22276A>T)
c.1163T>A (p.Ile388Asn)
c.1103T>A (p.Ile368Asn)
c.1034T>A (p.Ile345Asn)
c.953T>A (p.Ile318Asn)
c.*1+27515A>T (n.*1+27515A>T)
c.1055T>A (p.Ile352Asn)
c.986T>A (p.Ile329Asn)
n.1478+23989A>T
 dbSNP ExAC gnomAD v2
9g.4576664T>CCA372818462SLC1A1,SPATA6Lc.1094T>C (p.Ile365Thr)
c.381T>C
c.*782-22276A>G (n.*782-22276A>G)
c.1163T>C (p.Ile388Thr)
c.1103T>C (p.Ile368Thr)
c.1034T>C (p.Ile345Thr)
c.953T>C (p.Ile318Thr)
c.*1+27515A>G (n.*1+27515A>G)
c.1055T>C (p.Ile352Thr)
c.986T>C (p.Ile329Thr)
n.1478+23989A>G
 dbSNP
9g.4576664T>GCA372818464SLC1A1,SPATA6Lc.1094T>G (p.Ile365Ser)
c.381T>G
c.*782-22276A>C (n.*782-22276A>C)
c.1163T>G (p.Ile388Ser)
c.1103T>G (p.Ile368Ser)
c.1034T>G (p.Ile345Ser)
c.953T>G (p.Ile318Ser)
c.*1+27515A>C (n.*1+27515A>C)
c.1055T>G (p.Ile352Ser)
c.986T>G (p.Ile329Ser)
n.1478+23989A>C
 gnomAD v4
9g.4576664T=CA1829385555SLC1A1,SPATA6Lc.1094T= (p.Ile365=)
c.381T=
c.*782-22276A= (n.*782-22276A=)
c.1163T= (p.Ile388=)
c.1103T= (p.Ile368=)
c.1034T= (p.Ile345=)
c.953T= (p.Ile318=)
c.*1+27515A= (n.*1+27515A=)
c.1055T= (p.Ile352=)
c.986T= (p.Ile329=)
n.1478+23989A=
9g.4576665C>ACA463728597SLC1A1,SPATA6Lc.1095C>A (p.Ile365=)
c.382C>A
c.*782-22277G>T (n.*782-22277G>T)
c.1164C>A (p.Ile388=)
c.1104C>A (p.Ile368=)
c.1035C>A (p.Ile345=)
c.954C>A (p.Ile318=)
c.*1+27514G>T (n.*1+27514G>T)
c.1056C>A (p.Ile352=)
c.987C>A (p.Ile329=)
n.1478+23988G>T
9g.4576665C>GCA372818466SLC1A1,SPATA6Lc.1095C>G (p.Ile365Met)
c.382C>G
c.*782-22277G>C (n.*782-22277G>C)
c.1164C>G (p.Ile388Met)
c.1104C>G (p.Ile368Met)
c.1035C>G (p.Ile345Met)
c.954C>G (p.Ile318Met)
c.*1+27514G>C (n.*1+27514G>C)
c.1056C>G (p.Ile352Met)
c.987C>G (p.Ile329Met)
n.1478+23988G>C
9g.4576665C>TCA463728598SLC1A1,SPATA6Lc.1095C>T (p.Ile365=)
c.382C>T
c.*782-22277G>A (n.*782-22277G>A)
c.1164C>T (p.Ile388=)
c.1104C>T (p.Ile368=)
c.1035C>T (p.Ile345=)
c.954C>T (p.Ile318=)
c.*1+27514G>A (n.*1+27514G>A)
c.1056C>T (p.Ile352=)
c.987C>T (p.Ile329=)
n.1478+23988G>A
9g.4576666A>CCA372818470SLC1A1,SPATA6Lc.1096A>C (p.Asn366His)
c.383A>C
c.*782-22278T>G (n.*782-22278T>G)
c.1165A>C (p.Asn389His)
c.1105A>C (p.Asn369His)
c.1036A>C (p.Asn346His)
c.955A>C (p.Asn319His)
c.*1+27513T>G (n.*1+27513T>G)
c.1057A>C (p.Asn353His)
c.988A>C (p.Asn330His)
n.1478+23987T>G
9g.4576666A>GCA372818471SLC1A1,SPATA6Lc.1096A>G (p.Asn366Asp)
c.383A>G
c.*782-22278T>C (n.*782-22278T>C)
c.1165A>G (p.Asn389Asp)
c.1105A>G (p.Asn369Asp)
c.1036A>G (p.Asn346Asp)
c.955A>G (p.Asn319Asp)
c.*1+27513T>C (n.*1+27513T>C)
c.1057A>G (p.Asn353Asp)
c.988A>G (p.Asn330Asp)
n.1478+23987T>C
9g.4576666A>TCA372818474SLC1A1,SPATA6Lc.1096A>T (p.Asn366Tyr)
c.383A>T
c.*782-22278T>A (n.*782-22278T>A)
c.1165A>T (p.Asn389Tyr)
c.1105A>T (p.Asn369Tyr)
c.1036A>T (p.Asn346Tyr)
c.955A>T (p.Asn319Tyr)
c.*1+27513T>A (n.*1+27513T>A)
c.1057A>T (p.Asn353Tyr)
c.988A>T (p.Asn330Tyr)
n.1478+23987T>A
9g.4576667A=CA1829385558SLC1A1,SPATA6Lc.1097A= (p.Asn366=)
c.384A=
c.*782-22279T= (n.*782-22279T=)
c.1166A= (p.Asn389=)
c.1106A= (p.Asn369=)
c.1037A= (p.Asn346=)
c.956A= (p.Asn319=)
c.*1+27512T= (n.*1+27512T=)
c.1058A= (p.Asn353=)
c.989A= (p.Asn330=)
n.1478+23986T=
9g.4576667A>CCA372818480SLC1A1,SPATA6Lc.1097A>C (p.Asn366Thr)
c.384A>C
c.*782-22279T>G (n.*782-22279T>G)
c.1166A>C (p.Asn389Thr)
c.1106A>C (p.Asn369Thr)
c.1037A>C (p.Asn346Thr)
c.956A>C (p.Asn319Thr)
c.*1+27512T>G (n.*1+27512T>G)
c.1058A>C (p.Asn353Thr)
c.989A>C (p.Asn330Thr)
n.1478+23986T>G
 ClinVar dbSNP
9g.4576667A>GCA372818476SLC1A1,SPATA6Lc.1097A>G (p.Asn366Ser)
c.384A>G
c.*782-22279T>C (n.*782-22279T>C)
c.1166A>G (p.Asn389Ser)
c.1106A>G (p.Asn369Ser)
c.1037A>G (p.Asn346Ser)
c.956A>G (p.Asn319Ser)
c.*1+27512T>C (n.*1+27512T>C)
c.1058A>G (p.Asn353Ser)
c.989A>G (p.Asn330Ser)
n.1478+23986T>C
 gnomAD v4
9g.4576667A>TCA372818478SLC1A1,SPATA6Lc.1097A>T (p.Asn366Ile)
c.384A>T
c.*782-22279T>A (n.*782-22279T>A)
c.1166A>T (p.Asn389Ile)
c.1106A>T (p.Asn369Ile)
c.1037A>T (p.Asn346Ile)
c.956A>T (p.Asn319Ile)
c.*1+27512T>A (n.*1+27512T>A)
c.1058A>T (p.Asn353Ile)
c.989A>T (p.Asn330Ile)
n.1478+23986T>A
9g.4576668C>ACA372818481SLC1A1,SPATA6Lc.1098C>A (p.Asn366Lys)
c.385C>A
c.*782-22280G>T (n.*782-22280G>T)
c.1167C>A (p.Asn389Lys)
c.1107C>A (p.Asn369Lys)
c.1038C>A (p.Asn346Lys)
c.957C>A (p.Asn319Lys)
c.*1+27511G>T (n.*1+27511G>T)
c.1059C>A (p.Asn353Lys)
c.990C>A (p.Asn330Lys)
n.1478+23985G>T
9g.4576668C=CA1829385561SLC1A1,SPATA6Lc.1098C= (p.Asn366=)
c.385C=
c.*782-22280G= (n.*782-22280G=)
c.1167C= (p.Asn389=)
c.1107C= (p.Asn369=)
c.1038C= (p.Asn346=)
c.957C= (p.Asn319=)
c.*1+27511G= (n.*1+27511G=)
c.1059C= (p.Asn353=)
c.990C= (p.Asn330=)
n.1478+23985G=
9g.4576668C>GCA372818483SLC1A1,SPATA6Lc.1098C>G (p.Asn366Lys)
c.385C>G
c.*782-22280G>C (n.*782-22280G>C)
c.1167C>G (p.Asn389Lys)
c.1107C>G (p.Asn369Lys)
c.1038C>G (p.Asn346Lys)
c.957C>G (p.Asn319Lys)
c.*1+27511G>C (n.*1+27511G>C)
c.1059C>G (p.Asn353Lys)
c.990C>G (p.Asn330Lys)
n.1478+23985G>C
9g.4576668C>TCA463728599SLC1A1,SPATA6Lc.1098C>T (p.Asn366=)
c.385C>T
c.*782-22280G>A (n.*782-22280G>A)
c.1167C>T (p.Asn389=)
c.1107C>T (p.Asn369=)
c.1038C>T (p.Asn346=)
c.957C>T (p.Asn319=)
c.*1+27511G>A (n.*1+27511G>A)
c.1059C>T (p.Asn353=)
c.990C>T (p.Asn330=)
n.1478+23985G>A
 dbSNP
9g.4576669A=CA1829385562SLC1A1,SPATA6Lc.1099A= (p.Met367=)
c.386A=
c.*782-22281T= (n.*782-22281T=)
c.1168A= (p.Met390=)
c.1108A= (p.Met370=)
c.1039A= (p.Met347=)
c.958A= (p.Met320=)
c.*1+27510T= (n.*1+27510T=)
c.1060A= (p.Met354=)
c.991A= (p.Met331=)
n.1478+23984T=
9g.4576669A>CCA372818486SLC1A1,SPATA6Lc.1099A>C (p.Met367Leu)
c.386A>C
c.*782-22281T>G (n.*782-22281T>G)
c.1168A>C (p.Met390Leu)
c.1108A>C (p.Met370Leu)
c.1039A>C (p.Met347Leu)
c.958A>C (p.Met320Leu)
c.*1+27510T>G (n.*1+27510T>G)
c.1060A>C (p.Met354Leu)
c.991A>C (p.Met331Leu)
n.1478+23984T>G
9g.4576669A>GCA372818488SLC1A1,SPATA6Lc.1099A>G (p.Met367Val)
c.386A>G
c.*782-22281T>C (n.*782-22281T>C)
c.1168A>G (p.Met390Val)
c.1108A>G (p.Met370Val)
c.1039A>G (p.Met347Val)
c.958A>G (p.Met320Val)
c.*1+27510T>C (n.*1+27510T>C)
c.1060A>G (p.Met354Val)
c.991A>G (p.Met331Val)
n.1478+23984T>C
 dbSNP gnomAD v4
9g.4576669A>TCA372818491SLC1A1,SPATA6Lc.1099A>T (p.Met367Leu)
c.386A>T
c.*782-22281T>A (n.*782-22281T>A)
c.1168A>T (p.Met390Leu)
c.1108A>T (p.Met370Leu)
c.1039A>T (p.Met347Leu)
c.958A>T (p.Met320Leu)
c.*1+27510T>A (n.*1+27510T>A)
c.1060A>T (p.Met354Leu)
c.991A>T (p.Met331Leu)
n.1478+23984T>A
9g.4576670T>ACA372818496SLC1A1,SPATA6Lc.1100T>A (p.Met367Lys)
c.387T>A
c.*782-22282A>T (n.*782-22282A>T)
c.1169T>A (p.Met390Lys)
c.1109T>A (p.Met370Lys)
c.1040T>A (p.Met347Lys)
c.959T>A (p.Met320Lys)
c.*1+27509A>T (n.*1+27509A>T)
c.1061T>A (p.Met354Lys)
c.992T>A (p.Met331Lys)
n.1478+23983A>T
9g.4576670T>CCA4969231SLC1A1,SPATA6Lc.1100T>C (p.Met367Thr)
c.387T>C
c.*782-22282A>G (n.*782-22282A>G)
c.1169T>C (p.Met390Thr)
c.1109T>C (p.Met370Thr)
c.1040T>C (p.Met347Thr)
c.959T>C (p.Met320Thr)
c.*1+27509A>G (n.*1+27509A>G)
c.1061T>C (p.Met354Thr)
c.992T>C (p.Met331Thr)
n.1478+23983A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576670T>GCA372818498SLC1A1,SPATA6Lc.1100T>G (p.Met367Arg)
c.387T>G
c.*782-22282A>C (n.*782-22282A>C)
c.1169T>G (p.Met390Arg)
c.1109T>G (p.Met370Arg)
c.1040T>G (p.Met347Arg)
c.959T>G (p.Met320Arg)
c.*1+27509A>C (n.*1+27509A>C)
c.1061T>G (p.Met354Arg)
c.992T>G (p.Met331Arg)
n.1478+23983A>C
9g.4576670T=CA1829385564SLC1A1,SPATA6Lc.1100T= (p.Met367=)
c.387T=
c.*782-22282A= (n.*782-22282A=)
c.1169T= (p.Met390=)
c.1109T= (p.Met370=)
c.1040T= (p.Met347=)
c.959T= (p.Met320=)
c.*1+27509A= (n.*1+27509A=)
c.1061T= (p.Met354=)
c.992T= (p.Met331=)
n.1478+23983A=
9g.4576670dupCA2689285197SLC1A1,SPATA6Lc.1100dup (p.Met367IlefsTer8)
c.387dup
c.*782-22282dup (n.*782-22282dup)
c.1169dup (p.Met390IlefsTer8)
c.1109dup (p.Met370IlefsTer8)
c.1040dup (p.Met347IlefsTer8)
c.959dup (p.Met320IlefsTer8)
c.*1+27509dup (n.*1+27509dup)
c.1061dup (p.Met354IlefsTer8)
c.992dup (p.Met331IlefsTer8)
n.1478+23983dup
 gnomAD v4
9g.4576671G>ACA372818502SLC1A1,SPATA6Lc.1101G>A (p.Met367Ile)
c.388G>A
c.*782-22283C>T (n.*782-22283C>T)
c.1170G>A (p.Met390Ile)
c.1110G>A (p.Met370Ile)
c.1041G>A (p.Met347Ile)
c.960G>A (p.Met320Ile)
c.*1+27508C>T (n.*1+27508C>T)
c.1062G>A (p.Met354Ile)
c.993G>A (p.Met331Ile)
n.1478+23982C>T
 gnomAD v4
9g.4576671G>CCA372818504SLC1A1,SPATA6Lc.1101G>C (p.Met367Ile)
c.388G>C
c.*782-22283C>G (n.*782-22283C>G)
c.1170G>C (p.Met390Ile)
c.1110G>C (p.Met370Ile)
c.1041G>C (p.Met347Ile)
c.960G>C (p.Met320Ile)
c.*1+27508C>G (n.*1+27508C>G)
c.1062G>C (p.Met354Ile)
c.993G>C (p.Met331Ile)
n.1478+23982C>G
9g.4576671G>TCA372818506SLC1A1,SPATA6Lc.1101G>T (p.Met367Ile)
c.388G>T
c.*782-22283C>A (n.*782-22283C>A)
c.1170G>T (p.Met390Ile)
c.1110G>T (p.Met370Ile)
c.1041G>T (p.Met347Ile)
c.960G>T (p.Met320Ile)
c.*1+27508C>A (n.*1+27508C>A)
c.1062G>T (p.Met354Ile)
c.993G>T (p.Met331Ile)
n.1478+23982C>A
 gnomAD v4
9g.4576672G>ACA372818510SLC1A1,SPATA6Lc.1102G>A (p.Asp368Asn)
c.389G>A
c.*782-22284C>T (n.*782-22284C>T)
c.1171G>A (p.Asp391Asn)
c.1111G>A (p.Asp371Asn)
c.1042G>A (p.Asp348Asn)
c.961G>A (p.Asp321Asn)
c.*1+27507C>T (n.*1+27507C>T)
c.1063G>A (p.Asp355Asn)
c.994G>A (p.Asp332Asn)
n.1478+23981C>T
 gnomAD v4
9g.4576672G>CCA372818512SLC1A1,SPATA6Lc.1102G>C (p.Asp368His)
c.389G>C
c.*782-22284C>G (n.*782-22284C>G)
c.1171G>C (p.Asp391His)
c.1111G>C (p.Asp371His)
c.1042G>C (p.Asp348His)
c.961G>C (p.Asp321His)
c.*1+27507C>G (n.*1+27507C>G)
c.1063G>C (p.Asp355His)
c.994G>C (p.Asp332His)
n.1478+23981C>G
 dbSNP
9g.4576672G=CA1829385567SLC1A1,SPATA6Lc.1102G= (p.Asp368=)
c.389G=
c.*782-22284C= (n.*782-22284C=)
c.1171G= (p.Asp391=)
c.1111G= (p.Asp371=)
c.1042G= (p.Asp348=)
c.961G= (p.Asp321=)
c.*1+27507C= (n.*1+27507C=)
c.1063G= (p.Asp355=)
c.994G= (p.Asp332=)
n.1478+23981C=
9g.4576672G>TCA372818514SLC1A1,SPATA6Lc.1102G>T (p.Asp368Tyr)
c.389G>T
c.*782-22284C>A (n.*782-22284C>A)
c.1171G>T (p.Asp391Tyr)
c.1111G>T (p.Asp371Tyr)
c.1042G>T (p.Asp348Tyr)
c.961G>T (p.Asp321Tyr)
c.*1+27507C>A (n.*1+27507C>A)
c.1063G>T (p.Asp355Tyr)
c.994G>T (p.Asp332Tyr)
n.1478+23981C>A
9g.4576673A>CCA372818515SLC1A1,SPATA6Lc.1103A>C (p.Asp368Ala)
c.390A>C
c.*782-22285T>G (n.*782-22285T>G)
c.1172A>C (p.Asp391Ala)
c.1112A>C (p.Asp371Ala)
c.1043A>C (p.Asp348Ala)
c.962A>C (p.Asp321Ala)
c.*1+27506T>G (n.*1+27506T>G)
c.1064A>C (p.Asp355Ala)
c.995A>C (p.Asp332Ala)
n.1478+23980T>G
9g.4576673A>GCA372818516SLC1A1,SPATA6Lc.1103A>G (p.Asp368Gly)
c.390A>G
c.*782-22285T>C (n.*782-22285T>C)
c.1172A>G (p.Asp391Gly)
c.1112A>G (p.Asp371Gly)
c.1043A>G (p.Asp348Gly)
c.962A>G (p.Asp321Gly)
c.*1+27506T>C (n.*1+27506T>C)
c.1064A>G (p.Asp355Gly)
c.995A>G (p.Asp332Gly)
n.1478+23980T>C
 gnomAD v4
9g.4576673A>TCA372818518SLC1A1,SPATA6Lc.1103A>T (p.Asp368Val)
c.390A>T
c.*782-22285T>A (n.*782-22285T>A)
c.1172A>T (p.Asp391Val)
c.1112A>T (p.Asp371Val)
c.1043A>T (p.Asp348Val)
c.962A>T (p.Asp321Val)
c.*1+27506T>A (n.*1+27506T>A)
c.1064A>T (p.Asp355Val)
c.995A>T (p.Asp332Val)
n.1478+23980T>A
9g.4576674T>ACA372818520SLC1A1,SPATA6Lc.1104T>A (p.Asp368Glu)
c.391T>A
c.*782-22286A>T (n.*782-22286A>T)
c.1173T>A (p.Asp391Glu)
c.1113T>A (p.Asp371Glu)
c.1044T>A (p.Asp348Glu)
c.963T>A (p.Asp321Glu)
c.*1+27505A>T (n.*1+27505A>T)
c.1065T>A (p.Asp355Glu)
c.996T>A (p.Asp332Glu)
n.1478+23979A>T
9g.4576674T>CCA463728601SLC1A1,SPATA6Lc.1104T>C (p.Asp368=)
c.391T>C
c.*782-22286A>G (n.*782-22286A>G)
c.1173T>C (p.Asp391=)
c.1113T>C (p.Asp371=)
c.1044T>C (p.Asp348=)
c.963T>C (p.Asp321=)
c.*1+27505A>G (n.*1+27505A>G)
c.1065T>C (p.Asp355=)
c.996T>C (p.Asp332=)
n.1478+23979A>G
9g.4576674T>GCA372818522SLC1A1,SPATA6Lc.1104T>G (p.Asp368Glu)
c.391T>G
c.*782-22286A>C (n.*782-22286A>C)
c.1173T>G (p.Asp391Glu)
c.1113T>G (p.Asp371Glu)
c.1044T>G (p.Asp348Glu)
c.963T>G (p.Asp321Glu)
c.*1+27505A>C (n.*1+27505A>C)
c.1065T>G (p.Asp355Glu)
c.996T>G (p.Asp332Glu)
n.1478+23979A>C
9g.4576675G>ACA372818525SLC1A1,SPATA6Lc.1105G>A (p.Gly369Arg)
c.392G>A
c.*782-22287C>T (n.*782-22287C>T)
c.1174G>A (p.Gly392Arg)
c.1114G>A (p.Gly372Arg)
c.1045G>A (p.Gly349Arg)
c.964G>A (p.Gly322Arg)
c.*1+27504C>T (n.*1+27504C>T)
c.1066G>A (p.Gly356Arg)
c.997G>A (p.Gly333Arg)
n.1478+23978C>T
9g.4576675G>CCA372818529SLC1A1,SPATA6Lc.1105G>C (p.Gly369Arg)
c.392G>C
c.*782-22287C>G (n.*782-22287C>G)
c.1174G>C (p.Gly392Arg)
c.1114G>C (p.Gly372Arg)
c.1045G>C (p.Gly349Arg)
c.964G>C (p.Gly322Arg)
c.*1+27504C>G (n.*1+27504C>G)
c.1066G>C (p.Gly356Arg)
c.997G>C (p.Gly333Arg)
n.1478+23978C>G
9g.4576675G>TCA372818527SLC1A1,SPATA6Lc.1105G>T (p.Gly369Trp)
c.392G>T
c.*782-22287C>A (n.*782-22287C>A)
c.1174G>T (p.Gly392Trp)
c.1114G>T (p.Gly372Trp)
c.1045G>T (p.Gly349Trp)
c.964G>T (p.Gly322Trp)
c.*1+27504C>A (n.*1+27504C>A)
c.1066G>T (p.Gly356Trp)
c.997G>T (p.Gly333Trp)
n.1478+23978C>A
 gnomAD v4
9g.4576676G>ACA372818532SLC1A1,SPATA6Lc.1106G>A (p.Gly369Glu)
c.393G>A
c.*782-22288C>T (n.*782-22288C>T)
c.1175G>A (p.Gly392Glu)
c.1115G>A (p.Gly372Glu)
c.1046G>A (p.Gly349Glu)
c.965G>A (p.Gly322Glu)
c.*1+27503C>T (n.*1+27503C>T)
c.1067G>A (p.Gly356Glu)
c.998G>A (p.Gly333Glu)
n.1478+23977C>T
9g.4576676G>CCA372818534SLC1A1,SPATA6Lc.1106G>C (p.Gly369Ala)
c.393G>C
c.*782-22288C>G (n.*782-22288C>G)
c.1175G>C (p.Gly392Ala)
c.1115G>C (p.Gly372Ala)
c.1046G>C (p.Gly349Ala)
c.965G>C (p.Gly322Ala)
c.*1+27503C>G (n.*1+27503C>G)
c.1067G>C (p.Gly356Ala)
c.998G>C (p.Gly333Ala)
n.1478+23977C>G
9g.4576676G>TCA372818536SLC1A1,SPATA6Lc.1106G>T (p.Gly369Val)
c.393G>T
c.*782-22288C>A (n.*782-22288C>A)
c.1175G>T (p.Gly392Val)
c.1115G>T (p.Gly372Val)
c.1046G>T (p.Gly349Val)
c.965G>T (p.Gly322Val)
c.*1+27503C>A (n.*1+27503C>A)
c.1067G>T (p.Gly356Val)
c.998G>T (p.Gly333Val)
n.1478+23977C>A
9g.4576677G>ACA463728602SLC1A1,SPATA6Lc.1107G>A (p.Gly369=)
c.394G>A
c.*782-22289C>T (n.*782-22289C>T)
c.1176G>A (p.Gly392=)
c.1116G>A (p.Gly372=)
c.1047G>A (p.Gly349=)
c.966G>A (p.Gly322=)
c.*1+27502C>T (n.*1+27502C>T)
c.1068G>A (p.Gly356=)
c.999G>A (p.Gly333=)
n.1478+23976C>T
 dbSNP gnomAD v3 gnomAD v4
9g.4576677G>CCA463728603SLC1A1,SPATA6Lc.1107G>C (p.Gly369=)
c.394G>C
c.*782-22289C>G (n.*782-22289C>G)
c.1176G>C (p.Gly392=)
c.1116G>C (p.Gly372=)
c.1047G>C (p.Gly349=)
c.966G>C (p.Gly322=)
c.*1+27502C>G (n.*1+27502C>G)
c.1068G>C (p.Gly356=)
c.999G>C (p.Gly333=)
n.1478+23976C>G
9g.4576677G=CA1829385569SLC1A1,SPATA6Lc.1107G= (p.Gly369=)
c.394G=
c.*782-22289C= (n.*782-22289C=)
c.1176G= (p.Gly392=)
c.1116G= (p.Gly372=)
c.1047G= (p.Gly349=)
c.966G= (p.Gly322=)
c.*1+27502C= (n.*1+27502C=)
c.1068G= (p.Gly356=)
c.999G= (p.Gly333=)
n.1478+23976C=
9g.4576677G>TCA463728604SLC1A1,SPATA6Lc.1107G>T (p.Gly369=)
c.394G>T
c.*782-22289C>A (n.*782-22289C>A)
c.1176G>T (p.Gly392=)
c.1116G>T (p.Gly372=)
c.1047G>T (p.Gly349=)
c.966G>T (p.Gly322=)
c.*1+27502C>A (n.*1+27502C>A)
c.1068G>T (p.Gly356=)
c.999G>T (p.Gly333=)
n.1478+23976C>A
9g.4576678A>CCA372818538SLC1A1,SPATA6Lc.1108A>C (p.Thr370Pro)
c.395A>C
c.*782-22290T>G (n.*782-22290T>G)
c.1177A>C (p.Thr393Pro)
c.1117A>C (p.Thr373Pro)
c.1048A>C (p.Thr350Pro)
c.967A>C (p.Thr323Pro)
c.*1+27501T>G (n.*1+27501T>G)
c.1069A>C (p.Thr357Pro)
c.1000A>C (p.Thr334Pro)
n.1478+23975T>G
9g.4576678A>GCA372818541SLC1A1,SPATA6Lc.1108A>G (p.Thr370Ala)
c.395A>G
c.*782-22290T>C (n.*782-22290T>C)
c.1177A>G (p.Thr393Ala)
c.1117A>G (p.Thr373Ala)
c.1048A>G (p.Thr350Ala)
c.967A>G (p.Thr323Ala)
c.*1+27501T>C (n.*1+27501T>C)
c.1069A>G (p.Thr357Ala)
c.1000A>G (p.Thr334Ala)
n.1478+23975T>C
9g.4576678A>TCA372818543SLC1A1,SPATA6Lc.1108A>T (p.Thr370Ser)
c.395A>T
c.*782-22290T>A (n.*782-22290T>A)
c.1177A>T (p.Thr393Ser)
c.1117A>T (p.Thr373Ser)
c.1048A>T (p.Thr350Ser)
c.967A>T (p.Thr323Ser)
c.*1+27501T>A (n.*1+27501T>A)
c.1069A>T (p.Thr357Ser)
c.1000A>T (p.Thr334Ser)
n.1478+23975T>A
9g.4576679C>ACA4969233SLC1A1,SPATA6Lc.1109C>A (p.Thr370Asn)
c.396C>A
c.*782-22291G>T (n.*782-22291G>T)
c.1178C>A (p.Thr393Asn)
c.1118C>A (p.Thr373Asn)
c.1049C>A (p.Thr350Asn)
c.968C>A (p.Thr323Asn)
c.*1+27500G>T (n.*1+27500G>T)
c.1070C>A (p.Thr357Asn)
c.1001C>A (p.Thr334Asn)
n.1478+23974G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.4576679C=CA1829385573SLC1A1,SPATA6Lc.1109C= (p.Thr370=)
c.396C=
c.*782-22291G= (n.*782-22291G=)
c.1178C= (p.Thr393=)
c.1118C= (p.Thr373=)
c.1049C= (p.Thr350=)
c.968C= (p.Thr323=)
c.*1+27500G= (n.*1+27500G=)
c.1070C= (p.Thr357=)
c.1001C= (p.Thr334=)
n.1478+23974G=
9g.4576679C>GCA372818547SLC1A1,SPATA6Lc.1109C>G (p.Thr370Ser)
c.396C>G
c.*782-22291G>C (n.*782-22291G>C)
c.1178C>G (p.Thr393Ser)
c.1118C>G (p.Thr373Ser)
c.1049C>G (p.Thr350Ser)
c.968C>G (p.Thr323Ser)
c.*1+27500G>C (n.*1+27500G>C)
c.1070C>G (p.Thr357Ser)
c.1001C>G (p.Thr334Ser)
n.1478+23974G>C
9g.4576679C>TCA4969232SLC1A1,SPATA6Lc.1109C>T (p.Thr370Ile)
c.396C>T
c.*782-22291G>A (n.*782-22291G>A)
c.1178C>T (p.Thr393Ile)
c.1118C>T (p.Thr373Ile)
c.1049C>T (p.Thr350Ile)
c.968C>T (p.Thr323Ile)
c.*1+27500G>A (n.*1+27500G>A)
c.1070C>T (p.Thr357Ile)
c.1001C>T (p.Thr334Ile)
n.1478+23974G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.4576680T>ACA463728605SLC1A1,SPATA6Lc.1110T>A (p.Thr370=)
c.397T>A
c.*782-22292A>T (n.*782-22292A>T)
c.1179T>A (p.Thr393=)
c.1119T>A (p.Thr373=)
c.1050T>A (p.Thr350=)
c.969T>A (p.Thr323=)
c.*1+27499A>T (n.*1+27499A>T)
c.1071T>A (p.Thr357=)
c.1002T>A (p.Thr334=)
n.1478+23973A>T
 dbSNP
9g.4576680T>CCA4969234SLC1A1,SPATA6Lc.1110T>C (p.Thr370=)
c.397T>C
c.*782-22292A>G (n.*782-22292A>G)
c.1179T>C (p.Thr393=)
c.1119T>C (p.Thr373=)
c.1050T>C (p.Thr350=)
c.969T>C (p.Thr323=)
c.*1+27499A>G (n.*1+27499A>G)
c.1071T>C (p.Thr357=)
c.1002T>C (p.Thr334=)
n.1478+23973A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.4576680T>GCA463728606SLC1A1,SPATA6Lc.1110T>G (p.Thr370=)
c.397T>G
c.*782-22292A>C (n.*782-22292A>C)
c.1179T>G (p.Thr393=)
c.1119T>G (p.Thr373=)
c.1050T>G (p.Thr350=)
c.969T>G (p.Thr323=)
c.*1+27499A>C (n.*1+27499A>C)
c.1071T>G (p.Thr357=)
c.1002T>G (p.Thr334=)
n.1478+23973A>C
 dbSNP
9g.4576680T=CA1829385579SLC1A1,SPATA6Lc.1110T= (p.Thr370=)
c.397T=
c.*782-22292A= (n.*782-22292A=)
c.1179T= (p.Thr393=)
c.1119T= (p.Thr373=)
c.1050T= (p.Thr350=)
c.969T= (p.Thr323=)
c.*1+27499A= (n.*1+27499A=)
c.1071T= (p.Thr357=)
c.1002T= (p.Thr334=)
n.1478+23973A=
9g.4576680_4576681delinsTGCA1829385580SLC1A1,SPATA6Lc.1110_1111delinsTG (p.Thr370=)
c.397_398delinsTG
c.*782-22293_*782-22292delinsCA (n.*782-22293_*782-22292delinsCA)
c.1179_1180delinsTG (p.Thr393=)
c.1119_1120delinsTG (p.Thr373=)
c.1050_1051delinsTG (p.Thr350=)
c.969_970delinsTG (p.Thr323=)
c.*1+27498_*1+27499delinsCA (n.*1+27498_*1+27499delinsCA)
c.1071_1072delinsTG (p.Thr357=)
c.1002_1003delinsTG (p.Thr334=)
n.1478+23972_1478+23973delinsCA
9g.4576681delCA865010486SLC1A1,SPATA6Lc.1111del (p.Ala371ArgfsTer14)
c.398del
c.*782-22293del (n.*782-22293del)
c.1180del (p.Ala394ArgfsTer14)
c.1120del (p.Ala374ArgfsTer14)
c.1051del (p.Ala351ArgfsTer14)
c.970del (p.Ala324ArgfsTer14)
c.*1+27498del (n.*1+27498del)
c.1072del (p.Ala358ArgfsTer14)
c.1003del (p.Ala335ArgfsTer14)
n.1478+23972del
 dbSNP gnomAD v4
9g.4576681G>ACA4969235SLC1A1,SPATA6Lc.1111G>A (p.Ala371Thr)
c.398G>A
c.*782-22293C>T (n.*782-22293C>T)
c.1180G>A (p.Ala394Thr)
c.1120G>A (p.Ala374Thr)
c.1051G>A (p.Ala351Thr)
c.970G>A (p.Ala324Thr)
c.*1+27498C>T (n.*1+27498C>T)
c.1072G>A (p.Ala358Thr)
c.1003G>A (p.Ala335Thr)
n.1478+23972C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576681G>CCA372818551SLC1A1,SPATA6Lc.1111G>C (p.Ala371Pro)
c.398G>C
c.*782-22293C>G (n.*782-22293C>G)
c.1180G>C (p.Ala394Pro)
c.1120G>C (p.Ala374Pro)
c.1051G>C (p.Ala351Pro)
c.970G>C (p.Ala324Pro)
c.*1+27498C>G (n.*1+27498C>G)
c.1072G>C (p.Ala358Pro)
c.1003G>C (p.Ala335Pro)
n.1478+23972C>G
9g.4576681G=CA1829385591SLC1A1,SPATA6Lc.1111G= (p.Ala371=)
c.398G=
c.*782-22293C= (n.*782-22293C=)
c.1180G= (p.Ala394=)
c.1120G= (p.Ala374=)
c.1051G= (p.Ala351=)
c.970G= (p.Ala324=)
c.*1+27498C= (n.*1+27498C=)
c.1072G= (p.Ala358=)
c.1003G= (p.Ala335=)
n.1478+23972C=
9g.4576681G>TCA372818554SLC1A1,SPATA6Lc.1111G>T (p.Ala371Ser)
c.398G>T
c.*782-22293C>A (n.*782-22293C>A)
c.1180G>T (p.Ala394Ser)
c.1120G>T (p.Ala374Ser)
c.1051G>T (p.Ala351Ser)
c.970G>T (p.Ala324Ser)
c.*1+27498C>A (n.*1+27498C>A)
c.1072G>T (p.Ala358Ser)
c.1003G>T (p.Ala335Ser)
n.1478+23972C>A
9g.4576682C>ACA372818559SLC1A1,SPATA6Lc.1112C>A (p.Ala371Glu)
c.399C>A
c.*782-22294G>T (n.*782-22294G>T)
c.1181C>A (p.Ala394Glu)
c.1121C>A (p.Ala374Glu)
c.1052C>A (p.Ala351Glu)
c.971C>A (p.Ala324Glu)
c.*1+27497G>T (n.*1+27497G>T)
c.1073C>A (p.Ala358Glu)
c.1004C>A (p.Ala335Glu)
n.1478+23971G>T
9g.4576682C=CA1829385595SLC1A1,SPATA6Lc.1112C= (p.Ala371=)
c.399C=
c.*782-22294G= (n.*782-22294G=)
c.1181C= (p.Ala394=)
c.1121C= (p.Ala374=)
c.1052C= (p.Ala351=)
c.971C= (p.Ala324=)
c.*1+27497G= (n.*1+27497G=)
c.1073C= (p.Ala358=)
c.1004C= (p.Ala335=)
n.1478+23971G=
9g.4576682C>GCA372818558SLC1A1,SPATA6Lc.1112C>G (p.Ala371Gly)
c.399C>G
c.*782-22294G>C (n.*782-22294G>C)
c.1181C>G (p.Ala394Gly)
c.1121C>G (p.Ala374Gly)
c.1052C>G (p.Ala351Gly)
c.971C>G (p.Ala324Gly)
c.*1+27497G>C (n.*1+27497G>C)
c.1073C>G (p.Ala358Gly)
c.1004C>G (p.Ala335Gly)
n.1478+23971G>C
9g.4576682C>TCA4969236SLC1A1,SPATA6Lc.1112C>T (p.Ala371Val)
c.399C>T
c.*782-22294G>A (n.*782-22294G>A)
c.1181C>T (p.Ala394Val)
c.1121C>T (p.Ala374Val)
c.1052C>T (p.Ala351Val)
c.971C>T (p.Ala324Val)
c.*1+27497G>A (n.*1+27497G>A)
c.1073C>T (p.Ala358Val)
c.1004C>T (p.Ala335Val)
n.1478+23971G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576683G>ACA4969237SLC1A1,SPATA6Lc.1113G>A (p.Ala371=)
c.400G>A
c.*782-22295C>T (n.*782-22295C>T)
c.1182G>A (p.Ala394=)
c.1122G>A (p.Ala374=)
c.1053G>A (p.Ala351=)
c.972G>A (p.Ala324=)
c.*1+27496C>T (n.*1+27496C>T)
c.1074G>A (p.Ala358=)
c.1005G>A (p.Ala335=)
n.1478+23970C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.4576683G>CCA463728607SLC1A1,SPATA6Lc.1113G>C (p.Ala371=)
c.400G>C
c.*782-22295C>G (n.*782-22295C>G)
c.1182G>C (p.Ala394=)
c.1122G>C (p.Ala374=)
c.1053G>C (p.Ala351=)
c.972G>C (p.Ala324=)
c.*1+27496C>G (n.*1+27496C>G)
c.1074G>C (p.Ala358=)
c.1005G>C (p.Ala335=)
n.1478+23970C>G
9g.4576683G=CA1829385599SLC1A1,SPATA6Lc.1113G= (p.Ala371=)
c.400G=
c.*782-22295C= (n.*782-22295C=)
c.1182G= (p.Ala394=)
c.1122G= (p.Ala374=)
c.1053G= (p.Ala351=)
c.972G= (p.Ala324=)
c.*1+27496C= (n.*1+27496C=)
c.1074G= (p.Ala358=)
c.1005G= (p.Ala335=)
n.1478+23970C=
9g.4576683G>TCA463728608SLC1A1,SPATA6Lc.1113G>T (p.Ala371=)
c.400G>T
c.*782-22295C>A (n.*782-22295C>A)
c.1182G>T (p.Ala394=)
c.1122G>T (p.Ala374=)
c.1053G>T (p.Ala351=)
c.972G>T (p.Ala324=)
c.*1+27496C>A (n.*1+27496C>A)
c.1074G>T (p.Ala358=)
c.1005G>T (p.Ala335=)
n.1478+23970C>A
9g.4576684C>ACA372818562SLC1A1,SPATA6Lc.1114C>A (p.Leu372Ile)
c.401C>A
c.*782-22296G>T (n.*782-22296G>T)
c.1183C>A (p.Leu395Ile)
c.1123C>A (p.Leu375Ile)
c.1054C>A (p.Leu352Ile)
c.973C>A (p.Leu325Ile)
c.*1+27495G>T (n.*1+27495G>T)
c.1075C>A (p.Leu359Ile)
c.1006C>A (p.Leu336Ile)
n.1478+23969G>T
9g.4576684C>GCA372818564SLC1A1,SPATA6Lc.1114C>G (p.Leu372Val)
c.401C>G
c.*782-22296G>C (n.*782-22296G>C)
c.1183C>G (p.Leu395Val)
c.1123C>G (p.Leu375Val)
c.1054C>G (p.Leu352Val)
c.973C>G (p.Leu325Val)
c.*1+27495G>C (n.*1+27495G>C)
c.1075C>G (p.Leu359Val)
c.1006C>G (p.Leu336Val)
n.1478+23969G>C
9g.4576684C>TCA372818566SLC1A1,SPATA6Lc.1114C>T (p.Leu372Phe)
c.401C>T
c.*782-22296G>A (n.*782-22296G>A)
c.1183C>T (p.Leu395Phe)
c.1123C>T (p.Leu375Phe)
c.1054C>T (p.Leu352Phe)
c.973C>T (p.Leu325Phe)
c.*1+27495G>A (n.*1+27495G>A)
c.1075C>T (p.Leu359Phe)
c.1006C>T (p.Leu336Phe)
n.1478+23969G>A
9g.4576685T>ACA372818569SLC1A1,SPATA6Lc.1115T>A (p.Leu372His)
c.402T>A
c.*782-22297A>T (n.*782-22297A>T)
c.1184T>A (p.Leu395His)
c.1124T>A (p.Leu375His)
c.1055T>A (p.Leu352His)
c.974T>A (p.Leu325His)
c.*1+27494A>T (n.*1+27494A>T)
c.1076T>A (p.Leu359His)
c.1007T>A (p.Leu336His)
n.1478+23968A>T
9g.4576685T>CCA372818571SLC1A1,SPATA6Lc.1115T>C (p.Leu372Pro)
c.402T>C
c.*782-22297A>G (n.*782-22297A>G)
c.1184T>C (p.Leu395Pro)
c.1124T>C (p.Leu375Pro)
c.1055T>C (p.Leu352Pro)
c.974T>C (p.Leu325Pro)
c.*1+27494A>G (n.*1+27494A>G)
c.1076T>C (p.Leu359Pro)
c.1007T>C (p.Leu336Pro)
n.1478+23968A>G
9g.4576685T>GCA372818573SLC1A1,SPATA6Lc.1115T>G (p.Leu372Arg)
c.402T>G
c.*782-22297A>C (n.*782-22297A>C)
c.1184T>G (p.Leu395Arg)
c.1124T>G (p.Leu375Arg)
c.1055T>G (p.Leu352Arg)
c.974T>G (p.Leu325Arg)
c.*1+27494A>C (n.*1+27494A>C)
c.1076T>G (p.Leu359Arg)
c.1007T>G (p.Leu336Arg)
n.1478+23968A>C

Number of alleles fetched