| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74190856C>A | CA393135315 | STRA6 | c.911G>T (p.Gly304Val) c.887G>T (p.Gly296Val) c.884G>T (p.Gly295Val) c.1022G>T (p.Gly341Val) n.620G>T c.1028G>T (p.Gly343Val) c.1041G>T (p.Arg347Ser) c.956G>T (p.Gly319Val) n.1183G>T c.722G>T (p.Gly241Val) n.1034G>T c.959G>T (p.Gly320Val) | |
| 15 | g.74190856C= | CA2187554644 | STRA6 | c.911G= (p.Gly304=) c.887G= (p.Gly296=) c.884G= (p.Gly295=) c.1022G= (p.Gly341=) n.620G= c.1028G= (p.Gly343=) c.1041G= (p.Arg347=) c.956G= (p.Gly319=) n.1183G= c.722G= (p.Gly241=) n.1034G= c.959G= (p.Gly320=) | |
| 15 | g.74190856C>G | CA393135316 | STRA6 | c.911G>C (p.Gly304Ala) c.887G>C (p.Gly296Ala) c.884G>C (p.Gly295Ala) c.1022G>C (p.Gly341Ala) n.620G>C c.1028G>C (p.Gly343Ala) c.1041G>C (p.Arg347Ser) c.956G>C (p.Gly319Ala) n.1183G>C c.722G>C (p.Gly241Ala) n.1034G>C c.959G>C (p.Gly320Ala) | |
| 15 | g.74190856C>T | CA393135317 | STRA6 | c.911G>A (p.Gly304Glu) c.887G>A (p.Gly296Glu) c.884G>A (p.Gly295Glu) c.1022G>A (p.Gly341Glu) n.620G>A c.1028G>A (p.Gly343Glu) c.1041G>A (p.Arg347=) c.956G>A (p.Gly319Glu) n.1183G>A c.722G>A (p.Gly241Glu) n.1034G>A c.959G>A (p.Gly320Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74190856_74190857delinsCC | CA2187554643 | STRA6 | c.910_911delinsGG (p.Gly304=) c.886_887delinsGG (p.Gly296=) c.883_884delinsGG (p.Gly295=) c.1021_1022delinsGG (p.Gly341=) n.619_620delinsGG c.1027_1028delinsGG (p.Gly343=) c.1040_1041delinsGG (p.Arg347=) c.955_956delinsGG (p.Gly319=) n.1182_1183delinsGG c.721_722delinsGG (p.Gly241=) n.1033_1034delinsGG c.958_959delinsGG (p.Gly320=) | |
| 15 | g.74190856_74190857delinsTT | CA130507 | STRA6 | c.910_911delinsAA (p.Gly304Lys) c.886_887delinsAA (p.Gly296Lys) c.883_884delinsAA (p.Gly295Lys) c.1021_1022delinsAA (p.Gly341Lys) n.619_620delinsAA c.1027_1028delinsAA (p.Gly343Lys) c.1040_1041delinsAA (p.Arg347Lys) c.955_956delinsAA (p.Gly319Lys) n.1182_1183delinsAA c.721_722delinsAA (p.Gly241Lys) n.1033_1034delinsAA c.958_959delinsAA (p.Gly320Lys) | ClinVar dbSNP |
| 15 | g.74190857C>A | CA393135320 | STRA6 | c.910G>T (p.Gly304Trp) c.886G>T (p.Gly296Trp) c.883G>T (p.Gly295Trp) c.1021G>T (p.Gly341Trp) n.619G>T c.1027G>T (p.Gly343Trp) c.1040G>T (p.Arg347Met) c.955G>T (p.Gly319Trp) n.1182G>T c.721G>T (p.Gly241Trp) n.1033G>T c.958G>T (p.Gly320Trp) | |
| 15 | g.74190857C= | CA2187554645 | STRA6 | c.910G= (p.Gly304=) c.886G= (p.Gly296=) c.883G= (p.Gly295=) c.1021G= (p.Gly341=) n.619G= c.1027G= (p.Gly343=) c.1040G= (p.Arg347=) c.955G= (p.Gly319=) n.1182G= c.721G= (p.Gly241=) n.1033G= c.958G= (p.Gly320=) | |
| 15 | g.74190857C>G | CA393135318 | STRA6 | c.910G>C (p.Gly304Arg) c.886G>C (p.Gly296Arg) c.883G>C (p.Gly295Arg) c.1021G>C (p.Gly341Arg) n.619G>C c.1027G>C (p.Gly343Arg) c.1040G>C (p.Arg347Thr) c.955G>C (p.Gly319Arg) n.1182G>C c.721G>C (p.Gly241Arg) n.1033G>C c.958G>C (p.Gly320Arg) | |
| 15 | g.74190857C>T | CA393135319 | STRA6 | c.910G>A (p.Gly304Arg) c.886G>A (p.Gly296Arg) c.883G>A (p.Gly295Arg) c.1021G>A (p.Gly341Arg) n.619G>A c.1027G>A (p.Gly343Arg) c.1040G>A (p.Arg347Lys) c.955G>A (p.Gly319Arg) n.1182G>A c.721G>A (p.Gly241Arg) n.1033G>A c.958G>A (p.Gly320Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74190858T>A | CA491173204 | STRA6 | c.909A>T (p.Thr303=) c.885A>T (p.Thr295=) c.882A>T (p.Thr294=) c.1020A>T (p.Thr340=) n.618A>T c.1026A>T (p.Thr342=) c.1039A>T (p.Arg347Trp) c.954A>T (p.Thr318=) n.1181A>T c.720A>T (p.Thr240=) n.1032A>T c.957A>T (p.Thr319=) | gnomAD v4 |
| 15 | g.74190858T>C | CA491173205 | STRA6 | c.909A>G (p.Thr303=) c.885A>G (p.Thr295=) c.882A>G (p.Thr294=) c.1020A>G (p.Thr340=) n.618A>G c.1026A>G (p.Thr342=) c.1039A>G (p.Arg347Gly) c.954A>G (p.Thr318=) n.1181A>G c.720A>G (p.Thr240=) n.1032A>G c.957A>G (p.Thr319=) | |
| 15 | g.74190858T>G | CA491173206 | STRA6 | c.909A>C (p.Thr303=) c.885A>C (p.Thr295=) c.882A>C (p.Thr294=) c.1020A>C (p.Thr340=) n.618A>C c.1026A>C (p.Thr342=) c.1039A>C (p.Arg347=) c.954A>C (p.Thr318=) n.1181A>C c.720A>C (p.Thr240=) n.1032A>C c.957A>C (p.Thr319=) | |
| 15 | g.74190859G>A | CA393135321 | STRA6 | c.908C>T (p.Thr303Ile) c.884C>T (p.Thr295Ile) c.881C>T (p.Thr294Ile) c.1019C>T (p.Thr340Ile) n.617C>T c.1025C>T (p.Thr342Ile) c.1038C>T (p.Asp346=) c.953C>T (p.Thr318Ile) n.1180C>T c.719C>T (p.Thr240Ile) n.1031C>T c.956C>T (p.Thr319Ile) | |
| 15 | g.74190859G>C | CA393135322 | STRA6 | c.908C>G (p.Thr303Arg) c.884C>G (p.Thr295Arg) c.881C>G (p.Thr294Arg) c.1019C>G (p.Thr340Arg) n.617C>G c.1025C>G (p.Thr342Arg) c.1038C>G (p.Asp346Glu) c.953C>G (p.Thr318Arg) n.1180C>G c.719C>G (p.Thr240Arg) n.1031C>G c.956C>G (p.Thr319Arg) | gnomAD v4 |
| 15 | g.74190859G>T | CA393135323 | STRA6 | c.908C>A (p.Thr303Lys) c.884C>A (p.Thr295Lys) c.881C>A (p.Thr294Lys) c.1019C>A (p.Thr340Lys) n.617C>A c.1025C>A (p.Thr342Lys) c.1038C>A (p.Asp346Glu) c.953C>A (p.Thr318Lys) n.1180C>A c.719C>A (p.Thr240Lys) n.1031C>A c.956C>A (p.Thr319Lys) | gnomAD v4 |
| 15 | g.74190860T>A | CA393135326 | STRA6 | c.907A>T (p.Thr303Ser) c.883A>T (p.Thr295Ser) c.880A>T (p.Thr294Ser) c.1018A>T (p.Thr340Ser) n.616A>T c.1024A>T (p.Thr342Ser) c.1037A>T (p.Asp346Val) c.952A>T (p.Thr318Ser) n.1179A>T c.718A>T (p.Thr240Ser) n.1030A>T c.955A>T (p.Thr319Ser) | |
| 15 | g.74190860T>C | CA393135325 | STRA6 | c.907A>G (p.Thr303Ala) c.883A>G (p.Thr295Ala) c.880A>G (p.Thr294Ala) c.1018A>G (p.Thr340Ala) n.616A>G c.1024A>G (p.Thr342Ala) c.1037A>G (p.Asp346Gly) c.952A>G (p.Thr318Ala) n.1179A>G c.718A>G (p.Thr240Ala) n.1030A>G c.955A>G (p.Thr319Ala) | |
| 15 | g.74190860T>G | CA393135324 | STRA6 | c.907A>C (p.Thr303Pro) c.883A>C (p.Thr295Pro) c.880A>C (p.Thr294Pro) c.1018A>C (p.Thr340Pro) n.616A>C c.1024A>C (p.Thr342Pro) c.1037A>C (p.Asp346Ala) c.952A>C (p.Thr318Pro) n.1179A>C c.718A>C (p.Thr240Pro) n.1030A>C c.955A>C (p.Thr319Pro) | |
| 15 | g.74190861C>A | CA491173210 | STRA6 | c.906G>T (p.Leu302=) c.882G>T (p.Leu294=) c.879G>T (p.Leu293=) c.1017G>T (p.Leu339=) n.615G>T c.1023G>T (p.Leu341=) c.1036G>T (p.Asp346Tyr) c.951G>T (p.Leu317=) n.1178G>T c.717G>T (p.Leu239=) n.1029G>T c.954G>T (p.Leu318=) | |
| 15 | g.74190861C>G | CA491173211 | STRA6 | c.906G>C (p.Leu302=) c.882G>C (p.Leu294=) c.879G>C (p.Leu293=) c.1017G>C (p.Leu339=) n.615G>C c.1023G>C (p.Leu341=) c.1036G>C (p.Asp346His) c.951G>C (p.Leu317=) n.1178G>C c.717G>C (p.Leu239=) n.1029G>C c.954G>C (p.Leu318=) | |
| 15 | g.74190861C>T | CA491173212 | STRA6 | c.906G>A (p.Leu302=) c.882G>A (p.Leu294=) c.879G>A (p.Leu293=) c.1017G>A (p.Leu339=) n.615G>A c.1023G>A (p.Leu341=) c.1036G>A (p.Asp346Asn) c.951G>A (p.Leu317=) n.1178G>A c.717G>A (p.Leu239=) n.1029G>A c.954G>A (p.Leu318=) | gnomAD v4 |
| 15 | g.74190862A>C | CA393135327 | STRA6 | c.905T>G (p.Leu302Arg) c.881T>G (p.Leu294Arg) c.878T>G (p.Leu293Arg) c.1016T>G (p.Leu339Arg) n.614T>G c.1022T>G (p.Leu341Arg) c.1035T>G (p.Thr345=) c.950T>G (p.Leu317Arg) n.1177T>G c.716T>G (p.Leu239Arg) n.1028T>G c.953T>G (p.Leu318Arg) | |
| 15 | g.74190862A>G | CA393135328 | STRA6 | c.905T>C (p.Leu302Pro) c.881T>C (p.Leu294Pro) c.878T>C (p.Leu293Pro) c.1016T>C (p.Leu339Pro) n.614T>C c.1022T>C (p.Leu341Pro) c.1035T>C (p.Thr345=) c.950T>C (p.Leu317Pro) n.1177T>C c.716T>C (p.Leu239Pro) n.1028T>C c.953T>C (p.Leu318Pro) | |
| 15 | g.74190862A>T | CA393135329 | STRA6 | c.905T>A (p.Leu302Gln) c.881T>A (p.Leu294Gln) c.878T>A (p.Leu293Gln) c.1016T>A (p.Leu339Gln) n.614T>A c.1022T>A (p.Leu341Gln) c.1035T>A (p.Thr345=) c.950T>A (p.Leu317Gln) n.1177T>A c.716T>A (p.Leu239Gln) n.1028T>A c.953T>A (p.Leu318Gln) | |
| 15 | g.74190863G>A | CA491173213 | STRA6 | c.904C>T (p.Leu302=) c.880C>T (p.Leu294=) c.877C>T (p.Leu293=) c.1015C>T (p.Leu339=) n.613C>T c.1021C>T (p.Leu341=) c.1034C>T (p.Thr345Ile) c.949C>T (p.Leu317=) n.1176C>T c.715C>T (p.Leu239=) n.1027C>T c.952C>T (p.Leu318=) | |
| 15 | g.74190863G>C | CA393135330 | STRA6 | c.904C>G (p.Leu302Val) c.880C>G (p.Leu294Val) c.877C>G (p.Leu293Val) c.1015C>G (p.Leu339Val) n.613C>G c.1021C>G (p.Leu341Val) c.1034C>G (p.Thr345Ser) c.949C>G (p.Leu317Val) n.1176C>G c.715C>G (p.Leu239Val) n.1027C>G c.952C>G (p.Leu318Val) | |
| 15 | g.74190863G>T | CA393135331 | STRA6 | c.904C>A (p.Leu302Met) c.880C>A (p.Leu294Met) c.877C>A (p.Leu293Met) c.1015C>A (p.Leu339Met) n.613C>A c.1021C>A (p.Leu341Met) c.1034C>A (p.Thr345Asn) c.949C>A (p.Leu317Met) n.1176C>A c.715C>A (p.Leu239Met) n.1027C>A c.952C>A (p.Leu318Met) | |
| 15 | g.74190864T>A | CA491173214 | STRA6 | c.903A>T (p.Thr301=) c.879A>T (p.Thr293=) c.876A>T (p.Thr292=) c.1014A>T (p.Thr338=) n.612A>T c.1020A>T (p.Thr340=) c.1033A>T (p.Thr345Ser) c.948A>T (p.Thr316=) n.1175A>T c.714A>T (p.Thr238=) n.1026A>T c.951A>T (p.Thr317=) | |
| 15 | g.74190864T>C | CA7654767 | STRA6 | c.903A>G (p.Thr301=) c.879A>G (p.Thr293=) c.876A>G (p.Thr292=) c.1014A>G (p.Thr338=) n.612A>G c.1020A>G (p.Thr340=) c.1033A>G (p.Thr345Ala) c.948A>G (p.Thr316=) n.1175A>G c.714A>G (p.Thr238=) n.1026A>G c.951A>G (p.Thr317=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74190864T>G | CA491173216 | STRA6 | c.903A>C (p.Thr301=) c.879A>C (p.Thr293=) c.876A>C (p.Thr292=) c.1014A>C (p.Thr338=) n.612A>C c.1020A>C (p.Thr340=) c.1033A>C (p.Thr345Pro) c.948A>C (p.Thr316=) n.1175A>C c.714A>C (p.Thr238=) n.1026A>C c.951A>C (p.Thr317=) | |
| 15 | g.74190864T= | CA2187554646 | STRA6 | c.903A= (p.Thr301=) c.879A= (p.Thr293=) c.876A= (p.Thr292=) c.1014A= (p.Thr338=) n.612A= c.1020A= (p.Thr340=) c.1033A= (p.Thr345=) c.948A= (p.Thr316=) n.1175A= c.714A= (p.Thr238=) n.1026A= c.951A= (p.Thr317=) | |
| 15 | g.74190865G>A | CA7654768 | STRA6 | c.902C>T (p.Thr301Ile) c.878C>T (p.Thr293Ile) c.875C>T (p.Thr292Ile) c.1013C>T (p.Thr338Ile) n.611C>T c.1019C>T (p.Thr340Ile) c.1032C>T (p.Tyr344=) c.947C>T (p.Thr316Ile) n.1174C>T c.713C>T (p.Thr238Ile) n.1025C>T c.950C>T (p.Thr317Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74190865G>C | CA393135332 | STRA6 | c.902C>G (p.Thr301Arg) c.878C>G (p.Thr293Arg) c.875C>G (p.Thr292Arg) c.1013C>G (p.Thr338Arg) n.611C>G c.1019C>G (p.Thr340Arg) c.1032C>G (p.Tyr344Ter) c.947C>G (p.Thr316Arg) n.1174C>G c.713C>G (p.Thr238Arg) n.1025C>G c.950C>G (p.Thr317Arg) | |
| 15 | g.74190865G= | CA2187554647 | STRA6 | c.902C= (p.Thr301=) c.878C= (p.Thr293=) c.875C= (p.Thr292=) c.1013C= (p.Thr338=) n.611C= c.1019C= (p.Thr340=) c.1032C= (p.Tyr344=) c.947C= (p.Thr316=) n.1174C= c.713C= (p.Thr238=) n.1025C= c.950C= (p.Thr317=) | |
| 15 | g.74190865G>T | CA393135333 | STRA6 | c.902C>A (p.Thr301Lys) c.878C>A (p.Thr293Lys) c.875C>A (p.Thr292Lys) c.1013C>A (p.Thr338Lys) n.611C>A c.1019C>A (p.Thr340Lys) c.1032C>A (p.Tyr344Ter) c.947C>A (p.Thr316Lys) n.1174C>A c.713C>A (p.Thr238Lys) n.1025C>A c.950C>A (p.Thr317Lys) | |
| 15 | g.74190866T>A | CA393135334 | STRA6 | c.901A>T (p.Thr301Ser) c.877A>T (p.Thr293Ser) c.874A>T (p.Thr292Ser) c.1012A>T (p.Thr338Ser) n.610A>T c.1018A>T (p.Thr340Ser) c.1031A>T (p.Tyr344Phe) c.946A>T (p.Thr316Ser) n.1173A>T c.712A>T (p.Thr238Ser) n.1024A>T c.949A>T (p.Thr317Ser) | |
| 15 | g.74190866T>C | CA393135335 | STRA6 | c.901A>G (p.Thr301Ala) c.877A>G (p.Thr293Ala) c.874A>G (p.Thr292Ala) c.1012A>G (p.Thr338Ala) n.610A>G c.1018A>G (p.Thr340Ala) c.1031A>G (p.Tyr344Cys) c.946A>G (p.Thr316Ala) n.1173A>G c.712A>G (p.Thr238Ala) n.1024A>G c.949A>G (p.Thr317Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74190866T>G | CA393135336 | STRA6 | c.901A>C (p.Thr301Pro) c.877A>C (p.Thr293Pro) c.874A>C (p.Thr292Pro) c.1012A>C (p.Thr338Pro) n.610A>C c.1018A>C (p.Thr340Pro) c.1031A>C (p.Tyr344Ser) c.946A>C (p.Thr316Pro) n.1173A>C c.712A>C (p.Thr238Pro) n.1024A>C c.949A>C (p.Thr317Pro) | |
| 15 | g.74190866T= | CA2187554648 | STRA6 | c.901A= (p.Thr301=) c.877A= (p.Thr293=) c.874A= (p.Thr292=) c.1012A= (p.Thr338=) n.610A= c.1018A= (p.Thr340=) c.1031A= (p.Tyr344=) c.946A= (p.Thr316=) n.1173A= c.712A= (p.Thr238=) n.1024A= c.949A= (p.Thr317=) | |
| 15 | g.74190867_74190870dup | CA2629451375 | STRA6 | c.898_901dup (p.Thr301SerfsTer?) c.874_877dup (p.Thr293SerfsTer?) c.871_874dup (p.Thr292SerfsTer?) c.1009_1012dup (p.Thr338SerfsTer?) n.607_610dup c.1015_1018dup (p.Thr340SerfsTer?) c.1028_1031dup (p.Tyr344Ter) c.943_946dup (p.Thr316SerfsTer?) n.1170_1173dup c.709_712dup (p.Thr238SerfsTer?) n.1021_1024dup c.946_949dup (p.Thr317SerfsTer?) | gnomAD v4 |
| 15 | g.74190867A>C | CA491173217 | STRA6 | c.900T>G (p.Ala300=) c.876T>G (p.Ala292=) c.873T>G (p.Ala291=) c.1011T>G (p.Ala337=) n.609T>G c.1017T>G (p.Ala339=) c.1030T>G (p.Tyr344Asp) c.945T>G (p.Ala315=) n.1172T>G c.711T>G (p.Ala237=) n.1023T>G c.948T>G (p.Ala316=) | gnomAD v4 |
| 15 | g.74190867A>G | CA491173218 | STRA6 | c.900T>C (p.Ala300=) c.876T>C (p.Ala292=) c.873T>C (p.Ala291=) c.1011T>C (p.Ala337=) n.609T>C c.1017T>C (p.Ala339=) c.1030T>C (p.Tyr344His) c.945T>C (p.Ala315=) n.1172T>C c.711T>C (p.Ala237=) n.1023T>C c.948T>C (p.Ala316=) | |
| 15 | g.74190867A>T | CA491173219 | STRA6 | c.900T>A (p.Ala300=) c.876T>A (p.Ala292=) c.873T>A (p.Ala291=) c.1011T>A (p.Ala337=) n.609T>A c.1017T>A (p.Ala339=) c.1030T>A (p.Tyr344Asn) c.945T>A (p.Ala315=) n.1172T>A c.711T>A (p.Ala237=) n.1023T>A c.948T>A (p.Ala316=) | |
| 15 | g.74190868del | CA645575932 | STRA6 | c.899del (p.Ala300ValfsTer3) c.875del (p.Ala292ValfsTer3) c.872del (p.Ala291ValfsTer3) c.1010del (p.Ala337ValfsTer3) n.608del c.1016del (p.Ala339ValfsTer3) c.1029del (p.Tyr344ThrfsTer?) c.944del (p.Ala315ValfsTer3) n.1171del c.710del (p.Ala237ValfsTer3) n.1022del c.947del (p.Ala316ValfsTer3) | gnomAD v4 COSMIC |
| 15 | g.74190868G>A | CA393135337 | STRA6 | c.899C>T (p.Ala300Val) c.875C>T (p.Ala292Val) c.872C>T (p.Ala291Val) c.1010C>T (p.Ala337Val) n.608C>T c.1016C>T (p.Ala339Val) c.1029C>T (p.Ser343=) c.944C>T (p.Ala315Val) n.1171C>T c.710C>T (p.Ala237Val) n.1022C>T c.947C>T (p.Ala316Val) | |
| 15 | g.74190868G>C | CA393135338 | STRA6 | c.899C>G (p.Ala300Gly) c.875C>G (p.Ala292Gly) c.872C>G (p.Ala291Gly) c.1010C>G (p.Ala337Gly) n.608C>G c.1016C>G (p.Ala339Gly) c.1029C>G (p.Ser343Arg) c.944C>G (p.Ala315Gly) n.1171C>G c.710C>G (p.Ala237Gly) n.1022C>G c.947C>G (p.Ala316Gly) | |
| 15 | g.74190868G>T | CA393135339 | STRA6 | c.899C>A (p.Ala300Asp) c.875C>A (p.Ala292Asp) c.872C>A (p.Ala291Asp) c.1010C>A (p.Ala337Asp) n.608C>A c.1016C>A (p.Ala339Asp) c.1029C>A (p.Ser343Arg) c.944C>A (p.Ala315Asp) n.1171C>A c.710C>A (p.Ala237Asp) n.1022C>A c.947C>A (p.Ala316Asp) | |
| 15 | g.74190869C>A | CA393135340 | STRA6 | c.898G>T (p.Ala300Ser) c.874G>T (p.Ala292Ser) c.871G>T (p.Ala291Ser) c.1009G>T (p.Ala337Ser) n.607G>T c.1015G>T (p.Ala339Ser) c.1028G>T (p.Ser343Ile) c.943G>T (p.Ala315Ser) n.1170G>T c.709G>T (p.Ala237Ser) n.1021G>T c.946G>T (p.Ala316Ser) | |
| 15 | g.74190869C>G | CA393135341 | STRA6 | c.898G>C (p.Ala300Pro) c.874G>C (p.Ala292Pro) c.871G>C (p.Ala291Pro) c.1009G>C (p.Ala337Pro) n.607G>C c.1015G>C (p.Ala339Pro) c.1028G>C (p.Ser343Thr) c.943G>C (p.Ala315Pro) n.1170G>C c.709G>C (p.Ala237Pro) n.1021G>C c.946G>C (p.Ala316Pro) | gnomAD v4 |