Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127427152C>ACA428618567PROCc.726C>A (p.Leu242=)
c.121-1205C>A
c.828C>A (p.Leu276=)
c.909C>A (p.Leu303=)
c.891C>A (p.Leu297=)
c.789C>A (p.Leu263=)
n.1486-764G>T
c.969C>A (p.Leu323=)
c.1071C>A (p.Leu357=)
c.1011C>A (p.Leu337=)
n.4197-764G>T
c.894C>A (p.Leu298=)
c.912C>A (p.Leu304=)
c.669C>A (p.Leu223=)
c.702C>A (p.Leu234=)
c.720C>A (p.Leu240=)
2g.127427152C=CA1286883855PROCc.726C= (p.Leu242=)
c.121-1205C=
c.828C= (p.Leu276=)
c.909C= (p.Leu303=)
c.891C= (p.Leu297=)
c.789C= (p.Leu263=)
n.1486-764G=
c.969C= (p.Leu323=)
c.1071C= (p.Leu357=)
c.1011C= (p.Leu337=)
n.4197-764G=
c.894C= (p.Leu298=)
c.912C= (p.Leu304=)
c.669C= (p.Leu223=)
c.702C= (p.Leu234=)
c.720C= (p.Leu240=)
2g.127427152C>GCA428618569PROCc.726C>G (p.Leu242=)
c.121-1205C>G
c.828C>G (p.Leu276=)
c.909C>G (p.Leu303=)
c.891C>G (p.Leu297=)
c.789C>G (p.Leu263=)
n.1486-764G>C
c.969C>G (p.Leu323=)
c.1071C>G (p.Leu357=)
c.1011C>G (p.Leu337=)
n.4197-764G>C
c.894C>G (p.Leu298=)
c.912C>G (p.Leu304=)
c.669C>G (p.Leu223=)
c.702C>G (p.Leu234=)
c.720C>G (p.Leu240=)
2g.127427152C>TCA55349339PROCc.726C>T (p.Leu242=)
c.121-1205C>T
c.828C>T (p.Leu276=)
c.909C>T (p.Leu303=)
c.891C>T (p.Leu297=)
c.789C>T (p.Leu263=)
n.1486-764G>A
c.969C>T (p.Leu323=)
c.1071C>T (p.Leu357=)
c.1011C>T (p.Leu337=)
n.4197-764G>A
c.894C>T (p.Leu298=)
c.912C>T (p.Leu304=)
c.669C>T (p.Leu223=)
c.702C>T (p.Leu234=)
c.720C>T (p.Leu240=)
 dbSNP gnomAD v4
2g.127427153A>CCA348402202PROCc.727A>C (p.Ile243Leu)
c.121-1204A>C
c.829A>C (p.Ile277Leu)
c.910A>C (p.Ile304Leu)
c.892A>C (p.Ile298Leu)
c.790A>C (p.Ile264Leu)
n.1486-765T>G
c.970A>C (p.Ile324Leu)
c.1072A>C (p.Ile358Leu)
c.1012A>C (p.Ile338Leu)
n.4197-765T>G
c.895A>C (p.Ile299Leu)
c.913A>C (p.Ile305Leu)
c.670A>C (p.Ile224Leu)
c.703A>C (p.Ile235Leu)
c.721A>C (p.Ile241Leu)
2g.127427153A>GCA348402203PROCc.727A>G (p.Ile243Val)
c.121-1204A>G
c.829A>G (p.Ile277Val)
c.910A>G (p.Ile304Val)
c.892A>G (p.Ile298Val)
c.790A>G (p.Ile264Val)
n.1486-765T>C
c.970A>G (p.Ile324Val)
c.1072A>G (p.Ile358Val)
c.1012A>G (p.Ile338Val)
n.4197-765T>C
c.895A>G (p.Ile299Val)
c.913A>G (p.Ile305Val)
c.670A>G (p.Ile224Val)
c.703A>G (p.Ile235Val)
c.721A>G (p.Ile241Val)
2g.127427153A>TCA348402204PROCc.727A>T (p.Ile243Phe)
c.121-1204A>T
c.829A>T (p.Ile277Phe)
c.910A>T (p.Ile304Phe)
c.892A>T (p.Ile298Phe)
c.790A>T (p.Ile264Phe)
n.1486-765T>A
c.970A>T (p.Ile324Phe)
c.1072A>T (p.Ile358Phe)
c.1012A>T (p.Ile338Phe)
n.4197-765T>A
c.895A>T (p.Ile299Phe)
c.913A>T (p.Ile305Phe)
c.670A>T (p.Ile224Phe)
c.703A>T (p.Ile235Phe)
c.721A>T (p.Ile241Phe)
 gnomAD v4
2g.127427154T>ACA348402208PROCc.728T>A (p.Ile243Asn)
c.121-1203T>A
c.830T>A (p.Ile277Asn)
c.911T>A (p.Ile304Asn)
c.893T>A (p.Ile298Asn)
c.791T>A (p.Ile264Asn)
n.1486-766A>T
c.971T>A (p.Ile324Asn)
c.1073T>A (p.Ile358Asn)
c.1013T>A (p.Ile338Asn)
n.4197-766A>T
c.896T>A (p.Ile299Asn)
c.914T>A (p.Ile305Asn)
c.671T>A (p.Ile224Asn)
c.704T>A (p.Ile235Asn)
c.722T>A (p.Ile241Asn)
2g.127427154T>CCA1859433PROCc.728T>C (p.Ile243Thr)
c.121-1203T>C
c.830T>C (p.Ile277Thr)
c.911T>C (p.Ile304Thr)
c.893T>C (p.Ile298Thr)
c.791T>C (p.Ile264Thr)
n.1486-766A>G
c.971T>C (p.Ile324Thr)
c.1073T>C (p.Ile358Thr)
c.1013T>C (p.Ile338Thr)
n.4197-766A>G
c.896T>C (p.Ile299Thr)
c.914T>C (p.Ile305Thr)
c.671T>C (p.Ile224Thr)
c.704T>C (p.Ile235Thr)
c.722T>C (p.Ile241Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427154T>GCA348402212PROCc.728T>G (p.Ile243Ser)
c.121-1203T>G
c.830T>G (p.Ile277Ser)
c.911T>G (p.Ile304Ser)
c.893T>G (p.Ile298Ser)
c.791T>G (p.Ile264Ser)
n.1486-766A>C
c.971T>G (p.Ile324Ser)
c.1073T>G (p.Ile358Ser)
c.1013T>G (p.Ile338Ser)
n.4197-766A>C
c.896T>G (p.Ile299Ser)
c.914T>G (p.Ile305Ser)
c.671T>G (p.Ile224Ser)
c.704T>G (p.Ile235Ser)
c.722T>G (p.Ile241Ser)
2g.127427154T=CA1286883856PROCc.728T= (p.Ile243=)
c.121-1203T=
c.830T= (p.Ile277=)
c.911T= (p.Ile304=)
c.893T= (p.Ile298=)
c.791T= (p.Ile264=)
n.1486-766A=
c.971T= (p.Ile324=)
c.1073T= (p.Ile358=)
c.1013T= (p.Ile338=)
n.4197-766A=
c.896T= (p.Ile299=)
c.914T= (p.Ile305=)
c.671T= (p.Ile224=)
c.704T= (p.Ile235=)
c.722T= (p.Ile241=)
2g.127427155C>ACA428618571PROCc.729C>A (p.Ile243=)
c.121-1202C>A
c.831C>A (p.Ile277=)
c.912C>A (p.Ile304=)
c.894C>A (p.Ile298=)
c.792C>A (p.Ile264=)
n.1486-767G>T
c.972C>A (p.Ile324=)
c.1074C>A (p.Ile358=)
c.1014C>A (p.Ile338=)
n.4197-767G>T
c.897C>A (p.Ile299=)
c.915C>A (p.Ile305=)
c.672C>A (p.Ile224=)
c.705C>A (p.Ile235=)
c.723C>A (p.Ile241=)
2g.127427155C=CA1286883857PROCc.729C= (p.Ile243=)
c.121-1202C=
c.831C= (p.Ile277=)
c.912C= (p.Ile304=)
c.894C= (p.Ile298=)
c.792C= (p.Ile264=)
n.1486-767G=
c.972C= (p.Ile324=)
c.1074C= (p.Ile358=)
c.1014C= (p.Ile338=)
n.4197-767G=
c.897C= (p.Ile299=)
c.915C= (p.Ile305=)
c.672C= (p.Ile224=)
c.705C= (p.Ile235=)
c.723C= (p.Ile241=)
2g.127427155C>GCA348402216PROCc.729C>G (p.Ile243Met)
c.121-1202C>G
c.831C>G (p.Ile277Met)
c.912C>G (p.Ile304Met)
c.894C>G (p.Ile298Met)
c.792C>G (p.Ile264Met)
n.1486-767G>C
c.972C>G (p.Ile324Met)
c.1074C>G (p.Ile358Met)
c.1014C>G (p.Ile338Met)
n.4197-767G>C
c.897C>G (p.Ile299Met)
c.915C>G (p.Ile305Met)
c.672C>G (p.Ile224Met)
c.705C>G (p.Ile235Met)
c.723C>G (p.Ile241Met)
2g.127427155C>TCA428618572PROCc.729C>T (p.Ile243=)
c.121-1202C>T
c.831C>T (p.Ile277=)
c.912C>T (p.Ile304=)
c.894C>T (p.Ile298=)
c.792C>T (p.Ile264=)
n.1486-767G>A
c.972C>T (p.Ile324=)
c.1074C>T (p.Ile358=)
c.1014C>T (p.Ile338=)
n.4197-767G>A
c.897C>T (p.Ile299=)
c.915C>T (p.Ile305=)
c.672C>T (p.Ile224=)
c.705C>T (p.Ile235=)
c.723C>T (p.Ile241=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427156C>ACA348402220PROCc.730C>A (p.His244Asn)
c.121-1201C>A
c.832C>A (p.His278Asn)
c.913C>A (p.His305Asn)
c.895C>A (p.His299Asn)
c.793C>A (p.His265Asn)
n.1486-768G>T
c.973C>A (p.His325Asn)
c.1075C>A (p.His359Asn)
c.1015C>A (p.His339Asn)
n.4197-768G>T
c.898C>A (p.His300Asn)
c.916C>A (p.His306Asn)
c.673C>A (p.His225Asn)
c.706C>A (p.His236Asn)
c.724C>A (p.His242Asn)
2g.127427156C=CA1286883858PROCc.730C= (p.His244=)
c.121-1201C=
c.832C= (p.His278=)
c.913C= (p.His305=)
c.895C= (p.His299=)
c.793C= (p.His265=)
n.1486-768G=
c.973C= (p.His325=)
c.1075C= (p.His359=)
c.1015C= (p.His339=)
n.4197-768G=
c.898C= (p.His300=)
c.916C= (p.His306=)
c.673C= (p.His225=)
c.706C= (p.His236=)
c.724C= (p.His242=)
2g.127427156C>GCA348402221PROCc.730C>G (p.His244Asp)
c.121-1201C>G
c.832C>G (p.His278Asp)
c.913C>G (p.His305Asp)
c.895C>G (p.His299Asp)
c.793C>G (p.His265Asp)
n.1486-768G>C
c.973C>G (p.His325Asp)
c.1075C>G (p.His359Asp)
c.1015C>G (p.His339Asp)
n.4197-768G>C
c.898C>G (p.His300Asp)
c.916C>G (p.His306Asp)
c.673C>G (p.His225Asp)
c.706C>G (p.His236Asp)
c.724C>G (p.His242Asp)
2g.127427156C>TCA1859434PROCc.730C>T (p.His244Tyr)
c.121-1201C>T
c.832C>T (p.His278Tyr)
c.913C>T (p.His305Tyr)
c.895C>T (p.His299Tyr)
c.793C>T (p.His265Tyr)
n.1486-768G>A
c.973C>T (p.His325Tyr)
c.1075C>T (p.His359Tyr)
c.1015C>T (p.His339Tyr)
n.4197-768G>A
c.898C>T (p.His300Tyr)
c.916C>T (p.His306Tyr)
c.673C>T (p.His225Tyr)
c.706C>T (p.His236Tyr)
c.724C>T (p.His242Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427157A=CA1286883859PROCc.731A= (p.His244=)
c.121-1200A=
c.833A= (p.His278=)
c.914A= (p.His305=)
c.896A= (p.His299=)
c.794A= (p.His265=)
n.1486-769T=
c.974A= (p.His325=)
c.1076A= (p.His359=)
c.1016A= (p.His339=)
n.4197-769T=
c.899A= (p.His300=)
c.917A= (p.His306=)
c.674A= (p.His225=)
c.707A= (p.His236=)
c.725A= (p.His242=)
2g.127427157A>CCA348402226PROCc.731A>C (p.His244Pro)
c.121-1200A>C
c.833A>C (p.His278Pro)
c.914A>C (p.His305Pro)
c.896A>C (p.His299Pro)
c.794A>C (p.His265Pro)
n.1486-769T>G
c.974A>C (p.His325Pro)
c.1076A>C (p.His359Pro)
c.1016A>C (p.His339Pro)
n.4197-769T>G
c.899A>C (p.His300Pro)
c.917A>C (p.His306Pro)
c.674A>C (p.His225Pro)
c.707A>C (p.His236Pro)
c.725A>C (p.His242Pro)
2g.127427157A>GCA348402228PROCc.731A>G (p.His244Arg)
c.121-1200A>G
c.833A>G (p.His278Arg)
c.914A>G (p.His305Arg)
c.896A>G (p.His299Arg)
c.794A>G (p.His265Arg)
n.1486-769T>C
c.974A>G (p.His325Arg)
c.1076A>G (p.His359Arg)
c.1016A>G (p.His339Arg)
n.4197-769T>C
c.899A>G (p.His300Arg)
c.917A>G (p.His306Arg)
c.674A>G (p.His225Arg)
c.707A>G (p.His236Arg)
c.725A>G (p.His242Arg)
 dbSNP COSMIC COSMIC
2g.127427157A>TCA348402231PROCc.731A>T (p.His244Leu)
c.121-1200A>T
c.833A>T (p.His278Leu)
c.914A>T (p.His305Leu)
c.896A>T (p.His299Leu)
c.794A>T (p.His265Leu)
n.1486-769T>A
c.974A>T (p.His325Leu)
c.1076A>T (p.His359Leu)
c.1016A>T (p.His339Leu)
n.4197-769T>A
c.899A>T (p.His300Leu)
c.917A>T (p.His306Leu)
c.674A>T (p.His225Leu)
c.707A>T (p.His236Leu)
c.725A>T (p.His242Leu)
2g.127427158C>ACA348402235PROCc.732C>A (p.His244Gln)
c.121-1199C>A
c.834C>A (p.His278Gln)
c.915C>A (p.His305Gln)
c.897C>A (p.His299Gln)
c.795C>A (p.His265Gln)
n.1486-770G>T
c.975C>A (p.His325Gln)
c.1077C>A (p.His359Gln)
c.1017C>A (p.His339Gln)
n.4197-770G>T
c.900C>A (p.His300Gln)
c.918C>A (p.His306Gln)
c.675C>A (p.His225Gln)
c.708C>A (p.His236Gln)
c.726C>A (p.His242Gln)
 gnomAD v4
2g.127427158C=CA1286883860PROCc.732C= (p.His244=)
c.121-1199C=
c.834C= (p.His278=)
c.915C= (p.His305=)
c.897C= (p.His299=)
c.795C= (p.His265=)
n.1486-770G=
c.975C= (p.His325=)
c.1077C= (p.His359=)
c.1017C= (p.His339=)
n.4197-770G=
c.900C= (p.His300=)
c.918C= (p.His306=)
c.675C= (p.His225=)
c.708C= (p.His236=)
c.726C= (p.His242=)
2g.127427158C>GCA348402238PROCc.732C>G (p.His244Gln)
c.121-1199C>G
c.834C>G (p.His278Gln)
c.915C>G (p.His305Gln)
c.897C>G (p.His299Gln)
c.795C>G (p.His265Gln)
n.1486-770G>C
c.975C>G (p.His325Gln)
c.1077C>G (p.His359Gln)
c.1017C>G (p.His339Gln)
n.4197-770G>C
c.900C>G (p.His300Gln)
c.918C>G (p.His306Gln)
c.675C>G (p.His225Gln)
c.708C>G (p.His236Gln)
c.726C>G (p.His242Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.127427158C>TCA1859435PROCc.732C>T (p.His244=)
c.121-1199C>T
c.834C>T (p.His278=)
c.915C>T (p.His305=)
c.897C>T (p.His299=)
c.795C>T (p.His265=)
n.1486-770G>A
c.975C>T (p.His325=)
c.1077C>T (p.His359=)
c.1017C>T (p.His339=)
n.4197-770G>A
c.900C>T (p.His300=)
c.918C>T (p.His306=)
c.675C>T (p.His225=)
c.708C>T (p.His236=)
c.726C>T (p.His242=)
 dbSNP ExAC gnomAD v2
2g.127427159C>ACA348402245PROCc.733C>A (p.Pro245Thr)
c.121-1198C>A
c.835C>A (p.Pro279Thr)
c.916C>A (p.Pro306Thr)
c.898C>A (p.Pro300Thr)
c.796C>A (p.Pro266Thr)
n.1486-771G>T
c.976C>A (p.Pro326Thr)
c.1078C>A (p.Pro360Thr)
c.1018C>A (p.Pro340Thr)
n.4197-771G>T
c.901C>A (p.Pro301Thr)
c.919C>A (p.Pro307Thr)
c.676C>A (p.Pro226Thr)
c.709C>A (p.Pro237Thr)
c.727C>A (p.Pro243Thr)
 COSMIC
2g.127427159C=CA1286883861PROCc.733C= (p.Pro245=)
c.121-1198C=
c.835C= (p.Pro279=)
c.916C= (p.Pro306=)
c.898C= (p.Pro300=)
c.796C= (p.Pro266=)
n.1486-771G=
c.976C= (p.Pro326=)
c.1078C= (p.Pro360=)
c.1018C= (p.Pro340=)
n.4197-771G=
c.901C= (p.Pro301=)
c.919C= (p.Pro307=)
c.676C= (p.Pro226=)
c.709C= (p.Pro237=)
c.727C= (p.Pro243=)
2g.127427159C>GCA348402249PROCc.733C>G (p.Pro245Ala)
c.121-1198C>G
c.835C>G (p.Pro279Ala)
c.916C>G (p.Pro306Ala)
c.898C>G (p.Pro300Ala)
c.796C>G (p.Pro266Ala)
n.1486-771G>C
c.976C>G (p.Pro326Ala)
c.1078C>G (p.Pro360Ala)
c.1018C>G (p.Pro340Ala)
n.4197-771G>C
c.901C>G (p.Pro301Ala)
c.919C>G (p.Pro307Ala)
c.676C>G (p.Pro226Ala)
c.709C>G (p.Pro237Ala)
c.727C>G (p.Pro243Ala)
2g.127427159C>TCA348402243PROCc.733C>T (p.Pro245Ser)
c.121-1198C>T
c.835C>T (p.Pro279Ser)
c.916C>T (p.Pro306Ser)
c.898C>T (p.Pro300Ser)
c.796C>T (p.Pro266Ser)
n.1486-771G>A
c.976C>T (p.Pro326Ser)
c.1078C>T (p.Pro360Ser)
c.1018C>T (p.Pro340Ser)
n.4197-771G>A
c.901C>T (p.Pro301Ser)
c.919C>T (p.Pro307Ser)
c.676C>T (p.Pro226Ser)
c.709C>T (p.Pro237Ser)
c.727C>T (p.Pro243Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427160C>ACA348402250PROCc.734C>A (p.Pro245His)
c.121-1197C>A
c.836C>A (p.Pro279His)
c.917C>A (p.Pro306His)
c.899C>A (p.Pro300His)
c.797C>A (p.Pro266His)
n.1486-772G>T
c.977C>A (p.Pro326His)
c.1079C>A (p.Pro360His)
c.1019C>A (p.Pro340His)
n.4197-772G>T
c.902C>A (p.Pro301His)
c.920C>A (p.Pro307His)
c.677C>A (p.Pro226His)
c.710C>A (p.Pro237His)
c.728C>A (p.Pro243His)
2g.127427160C=CA1286883862PROCc.734C= (p.Pro245=)
c.121-1197C=
c.836C= (p.Pro279=)
c.917C= (p.Pro306=)
c.899C= (p.Pro300=)
c.797C= (p.Pro266=)
n.1486-772G=
c.977C= (p.Pro326=)
c.1079C= (p.Pro360=)
c.1019C= (p.Pro340=)
n.4197-772G=
c.902C= (p.Pro301=)
c.920C= (p.Pro307=)
c.677C= (p.Pro226=)
c.710C= (p.Pro237=)
c.728C= (p.Pro243=)
2g.127427160C>GCA348402252PROCc.734C>G (p.Pro245Arg)
c.121-1197C>G
c.836C>G (p.Pro279Arg)
c.917C>G (p.Pro306Arg)
c.899C>G (p.Pro300Arg)
c.797C>G (p.Pro266Arg)
n.1486-772G>C
c.977C>G (p.Pro326Arg)
c.1079C>G (p.Pro360Arg)
c.1019C>G (p.Pro340Arg)
n.4197-772G>C
c.902C>G (p.Pro301Arg)
c.920C>G (p.Pro307Arg)
c.677C>G (p.Pro226Arg)
c.710C>G (p.Pro237Arg)
c.728C>G (p.Pro243Arg)
2g.127427160C>TCA348402254PROCc.734C>T (p.Pro245Leu)
c.121-1197C>T
c.836C>T (p.Pro279Leu)
c.917C>T (p.Pro306Leu)
c.899C>T (p.Pro300Leu)
c.797C>T (p.Pro266Leu)
n.1486-772G>A
c.977C>T (p.Pro326Leu)
c.1079C>T (p.Pro360Leu)
c.1019C>T (p.Pro340Leu)
n.4197-772G>A
c.902C>T (p.Pro301Leu)
c.920C>T (p.Pro307Leu)
c.677C>T (p.Pro226Leu)
c.710C>T (p.Pro237Leu)
c.728C>T (p.Pro243Leu)
 dbSNP gnomAD v4
2g.127427161C>ACA428618578PROCc.735C>A (p.Pro245=)
c.121-1196C>A
c.837C>A (p.Pro279=)
c.918C>A (p.Pro306=)
c.900C>A (p.Pro300=)
c.798C>A (p.Pro266=)
n.1486-773G>T
c.978C>A (p.Pro326=)
c.1080C>A (p.Pro360=)
c.1020C>A (p.Pro340=)
n.4197-773G>T
c.903C>A (p.Pro301=)
c.921C>A (p.Pro307=)
c.678C>A (p.Pro226=)
c.711C>A (p.Pro237=)
c.729C>A (p.Pro243=)
2g.127427161C=CA1286883863PROCc.735C= (p.Pro245=)
c.121-1196C=
c.837C= (p.Pro279=)
c.918C= (p.Pro306=)
c.900C= (p.Pro300=)
c.798C= (p.Pro266=)
n.1486-773G=
c.978C= (p.Pro326=)
c.1080C= (p.Pro360=)
c.1020C= (p.Pro340=)
n.4197-773G=
c.903C= (p.Pro301=)
c.921C= (p.Pro307=)
c.678C= (p.Pro226=)
c.711C= (p.Pro237=)
c.729C= (p.Pro243=)
2g.127427161C>GCA1859436PROCc.735C>G (p.Pro245=)
c.121-1196C>G
c.837C>G (p.Pro279=)
c.918C>G (p.Pro306=)
c.900C>G (p.Pro300=)
c.798C>G (p.Pro266=)
n.1486-773G>C
c.978C>G (p.Pro326=)
c.1080C>G (p.Pro360=)
c.1020C>G (p.Pro340=)
n.4197-773G>C
c.903C>G (p.Pro301=)
c.921C>G (p.Pro307=)
c.678C>G (p.Pro226=)
c.711C>G (p.Pro237=)
c.729C>G (p.Pro243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427161C>TCA428618581PROCc.735C>T (p.Pro245=)
c.121-1196C>T
c.837C>T (p.Pro279=)
c.918C>T (p.Pro306=)
c.900C>T (p.Pro300=)
c.798C>T (p.Pro266=)
n.1486-773G>A
c.978C>T (p.Pro326=)
c.1080C>T (p.Pro360=)
c.1020C>T (p.Pro340=)
n.4197-773G>A
c.903C>T (p.Pro301=)
c.921C>T (p.Pro307=)
c.678C>T (p.Pro226=)
c.711C>T (p.Pro237=)
c.729C>T (p.Pro243=)
2g.127427162T>ACA348402258PROCc.736T>A (p.Ser246Thr)
c.121-1195T>A
c.838T>A (p.Ser280Thr)
c.919T>A (p.Ser307Thr)
c.901T>A (p.Ser301Thr)
c.799T>A (p.Ser267Thr)
n.1486-774A>T
c.979T>A (p.Ser327Thr)
c.1081T>A (p.Ser361Thr)
c.1021T>A (p.Ser341Thr)
n.4197-774A>T
c.904T>A (p.Ser302Thr)
c.922T>A (p.Ser308Thr)
c.679T>A (p.Ser227Thr)
c.712T>A (p.Ser238Thr)
c.730T>A (p.Ser244Thr)
2g.127427162T>CCA348402260PROCc.736T>C (p.Ser246Pro)
c.121-1195T>C
c.838T>C (p.Ser280Pro)
c.919T>C (p.Ser307Pro)
c.901T>C (p.Ser301Pro)
c.799T>C (p.Ser267Pro)
n.1486-774A>G
c.979T>C (p.Ser327Pro)
c.1081T>C (p.Ser361Pro)
c.1021T>C (p.Ser341Pro)
n.4197-774A>G
c.904T>C (p.Ser302Pro)
c.922T>C (p.Ser308Pro)
c.679T>C (p.Ser227Pro)
c.712T>C (p.Ser238Pro)
c.730T>C (p.Ser244Pro)
2g.127427162T>GCA348402262PROCc.736T>G (p.Ser246Ala)
c.121-1195T>G
c.838T>G (p.Ser280Ala)
c.919T>G (p.Ser307Ala)
c.901T>G (p.Ser301Ala)
c.799T>G (p.Ser267Ala)
n.1486-774A>C
c.979T>G (p.Ser327Ala)
c.1081T>G (p.Ser361Ala)
c.1021T>G (p.Ser341Ala)
n.4197-774A>C
c.904T>G (p.Ser302Ala)
c.922T>G (p.Ser308Ala)
c.679T>G (p.Ser227Ala)
c.712T>G (p.Ser238Ala)
c.730T>G (p.Ser244Ala)
2g.127427163C>ACA348402265PROCc.737C>A (p.Ser246Tyr)
c.121-1194C>A
c.839C>A (p.Ser280Tyr)
c.920C>A (p.Ser307Tyr)
c.902C>A (p.Ser301Tyr)
c.800C>A (p.Ser267Tyr)
n.1486-775G>T
c.980C>A (p.Ser327Tyr)
c.1082C>A (p.Ser361Tyr)
c.1022C>A (p.Ser341Tyr)
n.4197-775G>T
c.905C>A (p.Ser302Tyr)
c.923C>A (p.Ser308Tyr)
c.680C>A (p.Ser227Tyr)
c.713C>A (p.Ser238Tyr)
c.731C>A (p.Ser244Tyr)
2g.127427163C>GCA348402268PROCc.737C>G (p.Ser246Cys)
c.121-1194C>G
c.839C>G (p.Ser280Cys)
c.920C>G (p.Ser307Cys)
c.902C>G (p.Ser301Cys)
c.800C>G (p.Ser267Cys)
n.1486-775G>C
c.980C>G (p.Ser327Cys)
c.1082C>G (p.Ser361Cys)
c.1022C>G (p.Ser341Cys)
n.4197-775G>C
c.905C>G (p.Ser302Cys)
c.923C>G (p.Ser308Cys)
c.680C>G (p.Ser227Cys)
c.713C>G (p.Ser238Cys)
c.731C>G (p.Ser244Cys)
2g.127427163C>TCA348402270PROCc.737C>T (p.Ser246Phe)
c.121-1194C>T
c.839C>T (p.Ser280Phe)
c.920C>T (p.Ser307Phe)
c.902C>T (p.Ser301Phe)
c.800C>T (p.Ser267Phe)
n.1486-775G>A
c.980C>T (p.Ser327Phe)
c.1082C>T (p.Ser361Phe)
c.1022C>T (p.Ser341Phe)
n.4197-775G>A
c.905C>T (p.Ser302Phe)
c.923C>T (p.Ser308Phe)
c.680C>T (p.Ser227Phe)
c.713C>T (p.Ser238Phe)
c.731C>T (p.Ser244Phe)
2g.127427164C>ACA428618588PROCc.738C>A (p.Ser246=)
c.121-1193C>A
c.840C>A (p.Ser280=)
c.921C>A (p.Ser307=)
c.903C>A (p.Ser301=)
c.801C>A (p.Ser267=)
n.1486-776G>T
c.981C>A (p.Ser327=)
c.1083C>A (p.Ser361=)
c.1023C>A (p.Ser341=)
n.4197-776G>T
c.906C>A (p.Ser302=)
c.924C>A (p.Ser308=)
c.681C>A (p.Ser227=)
c.714C>A (p.Ser238=)
c.732C>A (p.Ser244=)
2g.127427164C=CA1286883864PROCc.738C= (p.Ser246=)
c.121-1193C=
c.840C= (p.Ser280=)
c.921C= (p.Ser307=)
c.903C= (p.Ser301=)
c.801C= (p.Ser267=)
n.1486-776G=
c.981C= (p.Ser327=)
c.1083C= (p.Ser361=)
c.1023C= (p.Ser341=)
n.4197-776G=
c.906C= (p.Ser302=)
c.924C= (p.Ser308=)
c.681C= (p.Ser227=)
c.714C= (p.Ser238=)
c.732C= (p.Ser244=)
2g.127427164C>GCA428618589PROCc.738C>G (p.Ser246=)
c.121-1193C>G
c.840C>G (p.Ser280=)
c.921C>G (p.Ser307=)
c.903C>G (p.Ser301=)
c.801C>G (p.Ser267=)
n.1486-776G>C
c.981C>G (p.Ser327=)
c.1083C>G (p.Ser361=)
c.1023C>G (p.Ser341=)
n.4197-776G>C
c.906C>G (p.Ser302=)
c.924C>G (p.Ser308=)
c.681C>G (p.Ser227=)
c.714C>G (p.Ser238=)
c.732C>G (p.Ser244=)
 dbSNP
2g.127427164C>TCA428618591PROCc.738C>T (p.Ser246=)
c.121-1193C>T
c.840C>T (p.Ser280=)
c.921C>T (p.Ser307=)
c.903C>T (p.Ser301=)
c.801C>T (p.Ser267=)
n.1486-776G>A
c.981C>T (p.Ser327=)
c.1083C>T (p.Ser361=)
c.1023C>T (p.Ser341=)
n.4197-776G>A
c.906C>T (p.Ser302=)
c.924C>T (p.Ser308=)
c.681C>T (p.Ser227=)
c.714C>T (p.Ser238=)
c.732C>T (p.Ser244=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427165T>ACA348402276PROCc.739T>A (p.Trp247Arg)
c.121-1192T>A
c.841T>A (p.Trp281Arg)
c.922T>A (p.Trp308Arg)
c.904T>A (p.Trp302Arg)
c.802T>A (p.Trp268Arg)
n.1486-777A>T
c.982T>A (p.Trp328Arg)
c.1084T>A (p.Trp362Arg)
c.1024T>A (p.Trp342Arg)
n.4197-777A>T
c.907T>A (p.Trp303Arg)
c.925T>A (p.Trp309Arg)
c.682T>A (p.Trp228Arg)
c.715T>A (p.Trp239Arg)
c.733T>A (p.Trp245Arg)
2g.127427165T>CCA348402278PROCc.739T>C (p.Trp247Arg)
c.121-1192T>C
c.841T>C (p.Trp281Arg)
c.922T>C (p.Trp308Arg)
c.904T>C (p.Trp302Arg)
c.802T>C (p.Trp268Arg)
n.1486-777A>G
c.982T>C (p.Trp328Arg)
c.1084T>C (p.Trp362Arg)
c.1024T>C (p.Trp342Arg)
n.4197-777A>G
c.907T>C (p.Trp303Arg)
c.925T>C (p.Trp309Arg)
c.682T>C (p.Trp228Arg)
c.715T>C (p.Trp239Arg)
c.733T>C (p.Trp245Arg)
2g.127427165T>GCA348402279PROCc.739T>G (p.Trp247Gly)
c.121-1192T>G
c.841T>G (p.Trp281Gly)
c.922T>G (p.Trp308Gly)
c.904T>G (p.Trp302Gly)
c.802T>G (p.Trp268Gly)
n.1486-777A>C
c.982T>G (p.Trp328Gly)
c.1084T>G (p.Trp362Gly)
c.1024T>G (p.Trp342Gly)
n.4197-777A>C
c.907T>G (p.Trp303Gly)
c.925T>G (p.Trp309Gly)
c.682T>G (p.Trp228Gly)
c.715T>G (p.Trp239Gly)
c.733T>G (p.Trp245Gly)
2g.127427166G>ACA348402287PROCc.740G>A (p.Trp247Ter)
c.121-1191G>A
c.842G>A (p.Trp281Ter)
c.923G>A (p.Trp308Ter)
c.905G>A (p.Trp302Ter)
c.803G>A (p.Trp268Ter)
n.1486-778C>T
c.983G>A (p.Trp328Ter)
c.1085G>A (p.Trp362Ter)
c.1025G>A (p.Trp342Ter)
n.4197-778C>T
c.908G>A (p.Trp303Ter)
c.926G>A (p.Trp309Ter)
c.683G>A (p.Trp228Ter)
c.716G>A (p.Trp239Ter)
c.734G>A (p.Trp245Ter)
2g.127427166G>CCA348402284PROCc.740G>C (p.Trp247Ser)
c.121-1191G>C
c.842G>C (p.Trp281Ser)
c.923G>C (p.Trp308Ser)
c.905G>C (p.Trp302Ser)
c.803G>C (p.Trp268Ser)
n.1486-778C>G
c.983G>C (p.Trp328Ser)
c.1085G>C (p.Trp362Ser)
c.1025G>C (p.Trp342Ser)
n.4197-778C>G
c.908G>C (p.Trp303Ser)
c.926G>C (p.Trp309Ser)
c.683G>C (p.Trp228Ser)
c.716G>C (p.Trp239Ser)
c.734G>C (p.Trp245Ser)
2g.127427166G=CA1286883865PROCc.740G= (p.Trp247=)
c.121-1191G=
c.842G= (p.Trp281=)
c.923G= (p.Trp308=)
c.905G= (p.Trp302=)
c.803G= (p.Trp268=)
n.1486-778C=
c.983G= (p.Trp328=)
c.1085G= (p.Trp362=)
c.1025G= (p.Trp342=)
n.4197-778C=
c.908G= (p.Trp303=)
c.926G= (p.Trp309=)
c.683G= (p.Trp228=)
c.716G= (p.Trp239=)
c.734G= (p.Trp245=)
2g.127427166G>TCA348402282PROCc.740G>T (p.Trp247Leu)
c.121-1191G>T
c.842G>T (p.Trp281Leu)
c.923G>T (p.Trp308Leu)
c.905G>T (p.Trp302Leu)
c.803G>T (p.Trp268Leu)
n.1486-778C>A
c.983G>T (p.Trp328Leu)
c.1085G>T (p.Trp362Leu)
c.1025G>T (p.Trp342Leu)
n.4197-778C>A
c.908G>T (p.Trp303Leu)
c.926G>T (p.Trp309Leu)
c.683G>T (p.Trp228Leu)
c.716G>T (p.Trp239Leu)
c.734G>T (p.Trp245Leu)
2g.127427167G>ACA348402290PROCc.741G>A (p.Trp247Ter)
c.121-1190G>A
c.843G>A (p.Trp281Ter)
c.924G>A (p.Trp308Ter)
c.906G>A (p.Trp302Ter)
c.804G>A (p.Trp268Ter)
n.1486-779C>T
c.984G>A (p.Trp328Ter)
c.1086G>A (p.Trp362Ter)
c.1026G>A (p.Trp342Ter)
n.4197-779C>T
c.909G>A (p.Trp303Ter)
c.927G>A (p.Trp309Ter)
c.684G>A (p.Trp228Ter)
c.717G>A (p.Trp239Ter)
c.735G>A (p.Trp245Ter)
2g.127427167G>CCA348402292PROCc.741G>C (p.Trp247Cys)
c.121-1190G>C
c.843G>C (p.Trp281Cys)
c.924G>C (p.Trp308Cys)
c.906G>C (p.Trp302Cys)
c.804G>C (p.Trp268Cys)
n.1486-779C>G
c.984G>C (p.Trp328Cys)
c.1086G>C (p.Trp362Cys)
c.1026G>C (p.Trp342Cys)
n.4197-779C>G
c.909G>C (p.Trp303Cys)
c.927G>C (p.Trp309Cys)
c.684G>C (p.Trp228Cys)
c.717G>C (p.Trp239Cys)
c.735G>C (p.Trp245Cys)
2g.127427167G>TCA348402294PROCc.741G>T (p.Trp247Cys)
c.121-1190G>T
c.843G>T (p.Trp281Cys)
c.924G>T (p.Trp308Cys)
c.906G>T (p.Trp302Cys)
c.804G>T (p.Trp268Cys)
n.1486-779C>A
c.984G>T (p.Trp328Cys)
c.1086G>T (p.Trp362Cys)
c.1026G>T (p.Trp342Cys)
n.4197-779C>A
c.909G>T (p.Trp303Cys)
c.927G>T (p.Trp309Cys)
c.684G>T (p.Trp228Cys)
c.717G>T (p.Trp239Cys)
c.735G>T (p.Trp245Cys)
2g.127427168G>ACA348402298PROCc.742G>A (p.Val248Met)
c.121-1189G>A
c.844G>A (p.Val282Met)
c.925G>A (p.Val309Met)
c.907G>A (p.Val303Met)
c.805G>A (p.Val269Met)
n.1486-780C>T
c.985G>A (p.Val329Met)
c.1087G>A (p.Val363Met)
c.1027G>A (p.Val343Met)
n.4197-780C>T
c.910G>A (p.Val304Met)
c.928G>A (p.Val310Met)
c.685G>A (p.Val229Met)
c.718G>A (p.Val240Met)
c.736G>A (p.Val246Met)
2g.127427168G>CCA348402299PROCc.742G>C (p.Val248Leu)
c.121-1189G>C
c.844G>C (p.Val282Leu)
c.925G>C (p.Val309Leu)
c.907G>C (p.Val303Leu)
c.805G>C (p.Val269Leu)
n.1486-780C>G
c.985G>C (p.Val329Leu)
c.1087G>C (p.Val363Leu)
c.1027G>C (p.Val343Leu)
n.4197-780C>G
c.910G>C (p.Val304Leu)
c.928G>C (p.Val310Leu)
c.685G>C (p.Val229Leu)
c.718G>C (p.Val240Leu)
c.736G>C (p.Val246Leu)
2g.127427168G>TCA348402300PROCc.742G>T (p.Val248Leu)
c.121-1189G>T
c.844G>T (p.Val282Leu)
c.925G>T (p.Val309Leu)
c.907G>T (p.Val303Leu)
c.805G>T (p.Val269Leu)
n.1486-780C>A
c.985G>T (p.Val329Leu)
c.1087G>T (p.Val363Leu)
c.1027G>T (p.Val343Leu)
n.4197-780C>A
c.910G>T (p.Val304Leu)
c.928G>T (p.Val310Leu)
c.685G>T (p.Val229Leu)
c.718G>T (p.Val240Leu)
c.736G>T (p.Val246Leu)
2g.127427169T>ACA348402303PROCc.743T>A (p.Val248Glu)
c.121-1188T>A
c.845T>A (p.Val282Glu)
c.926T>A (p.Val309Glu)
c.908T>A (p.Val303Glu)
c.806T>A (p.Val269Glu)
n.1486-781A>T
c.986T>A (p.Val329Glu)
c.1088T>A (p.Val363Glu)
c.1028T>A (p.Val343Glu)
n.4197-781A>T
c.911T>A (p.Val304Glu)
c.929T>A (p.Val310Glu)
c.686T>A (p.Val229Glu)
c.719T>A (p.Val240Glu)
c.737T>A (p.Val246Glu)
2g.127427169T>CCA348402305PROCc.743T>C (p.Val248Ala)
c.121-1188T>C
c.845T>C (p.Val282Ala)
c.926T>C (p.Val309Ala)
c.908T>C (p.Val303Ala)
c.806T>C (p.Val269Ala)
n.1486-781A>G
c.986T>C (p.Val329Ala)
c.1088T>C (p.Val363Ala)
c.1028T>C (p.Val343Ala)
n.4197-781A>G
c.911T>C (p.Val304Ala)
c.929T>C (p.Val310Ala)
c.686T>C (p.Val229Ala)
c.719T>C (p.Val240Ala)
c.737T>C (p.Val246Ala)
 gnomAD v4
2g.127427169T>GCA348402307PROCc.743T>G (p.Val248Gly)
c.121-1188T>G
c.845T>G (p.Val282Gly)
c.926T>G (p.Val309Gly)
c.908T>G (p.Val303Gly)
c.806T>G (p.Val269Gly)
n.1486-781A>C
c.986T>G (p.Val329Gly)
c.1088T>G (p.Val363Gly)
c.1028T>G (p.Val343Gly)
n.4197-781A>C
c.911T>G (p.Val304Gly)
c.929T>G (p.Val310Gly)
c.686T>G (p.Val229Gly)
c.719T>G (p.Val240Gly)
c.737T>G (p.Val246Gly)
2g.127427170G>ACA428618601PROCc.744G>A (p.Val248=)
c.121-1187G>A
c.846G>A (p.Val282=)
c.927G>A (p.Val309=)
c.909G>A (p.Val303=)
c.807G>A (p.Val269=)
n.1486-782C>T
c.987G>A (p.Val329=)
c.1089G>A (p.Val363=)
c.1029G>A (p.Val343=)
n.4197-782C>T
c.912G>A (p.Val304=)
c.930G>A (p.Val310=)
c.687G>A (p.Val229=)
c.720G>A (p.Val240=)
c.738G>A (p.Val246=)
2g.127427170G>CCA428618602PROCc.744G>C (p.Val248=)
c.121-1187G>C
c.846G>C (p.Val282=)
c.927G>C (p.Val309=)
c.909G>C (p.Val303=)
c.807G>C (p.Val269=)
n.1486-782C>G
c.987G>C (p.Val329=)
c.1089G>C (p.Val363=)
c.1029G>C (p.Val343=)
n.4197-782C>G
c.912G>C (p.Val304=)
c.930G>C (p.Val310=)
c.687G>C (p.Val229=)
c.720G>C (p.Val240=)
c.738G>C (p.Val246=)
2g.127427170G>TCA428618604PROCc.744G>T (p.Val248=)
c.121-1187G>T
c.846G>T (p.Val282=)
c.927G>T (p.Val309=)
c.909G>T (p.Val303=)
c.807G>T (p.Val269=)
n.1486-782C>A
c.987G>T (p.Val329=)
c.1089G>T (p.Val363=)
c.1029G>T (p.Val343=)
n.4197-782C>A
c.912G>T (p.Val304=)
c.930G>T (p.Val310=)
c.687G>T (p.Val229=)
c.720G>T (p.Val240=)
c.738G>T (p.Val246=)
2g.127427171C>ACA348402308PROCc.745C>A (p.Leu249Met)
c.121-1186C>A
c.847C>A (p.Leu283Met)
c.928C>A (p.Leu310Met)
c.910C>A (p.Leu304Met)
c.808C>A (p.Leu270Met)
n.1486-783G>T
c.988C>A (p.Leu330Met)
c.1090C>A (p.Leu364Met)
c.1030C>A (p.Leu344Met)
n.4197-783G>T
c.913C>A (p.Leu305Met)
c.931C>A (p.Leu311Met)
c.688C>A (p.Leu230Met)
c.721C>A (p.Leu241Met)
c.739C>A (p.Leu247Met)
2g.127427171C>GCA348402309PROCc.745C>G (p.Leu249Val)
c.121-1186C>G
c.847C>G (p.Leu283Val)
c.928C>G (p.Leu310Val)
c.910C>G (p.Leu304Val)
c.808C>G (p.Leu270Val)
n.1486-783G>C
c.988C>G (p.Leu330Val)
c.1090C>G (p.Leu364Val)
c.1030C>G (p.Leu344Val)
n.4197-783G>C
c.913C>G (p.Leu305Val)
c.931C>G (p.Leu311Val)
c.688C>G (p.Leu230Val)
c.721C>G (p.Leu241Val)
c.739C>G (p.Leu247Val)
2g.127427171C>TCA428618609PROCc.745C>T (p.Leu249=)
c.121-1186C>T
c.847C>T (p.Leu283=)
c.928C>T (p.Leu310=)
c.910C>T (p.Leu304=)
c.808C>T (p.Leu270=)
n.1486-783G>A
c.988C>T (p.Leu330=)
c.1090C>T (p.Leu364=)
c.1030C>T (p.Leu344=)
n.4197-783G>A
c.913C>T (p.Leu305=)
c.931C>T (p.Leu311=)
c.688C>T (p.Leu230=)
c.721C>T (p.Leu241=)
c.739C>T (p.Leu247=)
2g.127427172T>ACA348402311PROCc.746T>A (p.Leu249Gln)
c.121-1185T>A
c.848T>A (p.Leu283Gln)
c.929T>A (p.Leu310Gln)
c.911T>A (p.Leu304Gln)
c.809T>A (p.Leu270Gln)
n.1486-784A>T
c.989T>A (p.Leu330Gln)
c.1091T>A (p.Leu364Gln)
c.1031T>A (p.Leu344Gln)
n.4197-784A>T
c.914T>A (p.Leu305Gln)
c.932T>A (p.Leu311Gln)
c.689T>A (p.Leu230Gln)
c.722T>A (p.Leu241Gln)
c.740T>A (p.Leu247Gln)
2g.127427172T>CCA55349366PROCc.746T>C (p.Leu249Pro)
c.121-1185T>C
c.848T>C (p.Leu283Pro)
c.929T>C (p.Leu310Pro)
c.911T>C (p.Leu304Pro)
c.809T>C (p.Leu270Pro)
n.1486-784A>G
c.989T>C (p.Leu330Pro)
c.1091T>C (p.Leu364Pro)
c.1031T>C (p.Leu344Pro)
n.4197-784A>G
c.914T>C (p.Leu305Pro)
c.932T>C (p.Leu311Pro)
c.689T>C (p.Leu230Pro)
c.722T>C (p.Leu241Pro)
c.740T>C (p.Leu247Pro)
 ClinVar dbSNP
2g.127427172T>GCA348402317PROCc.746T>G (p.Leu249Arg)
c.121-1185T>G
c.848T>G (p.Leu283Arg)
c.929T>G (p.Leu310Arg)
c.911T>G (p.Leu304Arg)
c.809T>G (p.Leu270Arg)
n.1486-784A>C
c.989T>G (p.Leu330Arg)
c.1091T>G (p.Leu364Arg)
c.1031T>G (p.Leu344Arg)
n.4197-784A>C
c.914T>G (p.Leu305Arg)
c.932T>G (p.Leu311Arg)
c.689T>G (p.Leu230Arg)
c.722T>G (p.Leu241Arg)
c.740T>G (p.Leu247Arg)
2g.127427172T=CA1286883866PROCc.746T= (p.Leu249=)
c.121-1185T=
c.848T= (p.Leu283=)
c.929T= (p.Leu310=)
c.911T= (p.Leu304=)
c.809T= (p.Leu270=)
n.1486-784A=
c.989T= (p.Leu330=)
c.1091T= (p.Leu364=)
c.1031T= (p.Leu344=)
n.4197-784A=
c.914T= (p.Leu305=)
c.932T= (p.Leu311=)
c.689T= (p.Leu230=)
c.722T= (p.Leu241=)
c.740T= (p.Leu247=)
2g.127427173G>ACA428618613PROCc.747G>A (p.Leu249=)
c.121-1184G>A
c.849G>A (p.Leu283=)
c.930G>A (p.Leu310=)
c.912G>A (p.Leu304=)
c.810G>A (p.Leu270=)
n.1486-785C>T
c.990G>A (p.Leu330=)
c.1092G>A (p.Leu364=)
c.1032G>A (p.Leu344=)
n.4197-785C>T
c.915G>A (p.Leu305=)
c.933G>A (p.Leu311=)
c.690G>A (p.Leu230=)
c.723G>A (p.Leu241=)
c.741G>A (p.Leu247=)
 COSMIC COSMIC
2g.127427173G>CCA428618611PROCc.747G>C (p.Leu249=)
c.121-1184G>C
c.849G>C (p.Leu283=)
c.930G>C (p.Leu310=)
c.912G>C (p.Leu304=)
c.810G>C (p.Leu270=)
n.1486-785C>G
c.990G>C (p.Leu330=)
c.1092G>C (p.Leu364=)
c.1032G>C (p.Leu344=)
n.4197-785C>G
c.915G>C (p.Leu305=)
c.933G>C (p.Leu311=)
c.690G>C (p.Leu230=)
c.723G>C (p.Leu241=)
c.741G>C (p.Leu247=)
2g.127427173G>TCA428618614PROCc.747G>T (p.Leu249=)
c.121-1184G>T
c.849G>T (p.Leu283=)
c.930G>T (p.Leu310=)
c.912G>T (p.Leu304=)
c.810G>T (p.Leu270=)
n.1486-785C>A
c.990G>T (p.Leu330=)
c.1092G>T (p.Leu364=)
c.1032G>T (p.Leu344=)
n.4197-785C>A
c.915G>T (p.Leu305=)
c.933G>T (p.Leu311=)
c.690G>T (p.Leu230=)
c.723G>T (p.Leu241=)
c.741G>T (p.Leu247=)
2g.127427174A>CCA348402324PROCc.748A>C (p.Thr250Pro)
c.121-1183A>C
c.850A>C (p.Thr284Pro)
c.931A>C (p.Thr311Pro)
c.913A>C (p.Thr305Pro)
c.811A>C (p.Thr271Pro)
n.1486-786T>G
c.991A>C (p.Thr331Pro)
c.1093A>C (p.Thr365Pro)
c.1033A>C (p.Thr345Pro)
n.4197-786T>G
c.916A>C (p.Thr306Pro)
c.934A>C (p.Thr312Pro)
c.691A>C (p.Thr231Pro)
c.724A>C (p.Thr242Pro)
c.742A>C (p.Thr248Pro)
2g.127427174A>GCA348402327PROCc.748A>G (p.Thr250Ala)
c.121-1183A>G
c.850A>G (p.Thr284Ala)
c.931A>G (p.Thr311Ala)
c.913A>G (p.Thr305Ala)
c.811A>G (p.Thr271Ala)
n.1486-786T>C
c.991A>G (p.Thr331Ala)
c.1093A>G (p.Thr365Ala)
c.1033A>G (p.Thr345Ala)
n.4197-786T>C
c.916A>G (p.Thr306Ala)
c.934A>G (p.Thr312Ala)
c.691A>G (p.Thr231Ala)
c.724A>G (p.Thr242Ala)
c.742A>G (p.Thr248Ala)
2g.127427174A>TCA348402320PROCc.748A>T (p.Thr250Ser)
c.121-1183A>T
c.850A>T (p.Thr284Ser)
c.931A>T (p.Thr311Ser)
c.913A>T (p.Thr305Ser)
c.811A>T (p.Thr271Ser)
n.1486-786T>A
c.991A>T (p.Thr331Ser)
c.1093A>T (p.Thr365Ser)
c.1033A>T (p.Thr345Ser)
n.4197-786T>A
c.916A>T (p.Thr306Ser)
c.934A>T (p.Thr312Ser)
c.691A>T (p.Thr231Ser)
c.724A>T (p.Thr242Ser)
c.742A>T (p.Thr248Ser)
2g.127427175C>ACA348402328PROCc.749C>A (p.Thr250Lys)
c.121-1182C>A
c.851C>A (p.Thr284Lys)
c.932C>A (p.Thr311Lys)
c.914C>A (p.Thr305Lys)
c.812C>A (p.Thr271Lys)
n.1486-787G>T
c.992C>A (p.Thr331Lys)
c.1094C>A (p.Thr365Lys)
c.1034C>A (p.Thr345Lys)
n.4197-787G>T
c.917C>A (p.Thr306Lys)
c.935C>A (p.Thr312Lys)
c.692C>A (p.Thr231Lys)
c.725C>A (p.Thr242Lys)
c.743C>A (p.Thr248Lys)
2g.127427175C>GCA348402331PROCc.749C>G (p.Thr250Arg)
c.121-1182C>G
c.851C>G (p.Thr284Arg)
c.932C>G (p.Thr311Arg)
c.914C>G (p.Thr305Arg)
c.812C>G (p.Thr271Arg)
n.1486-787G>C
c.992C>G (p.Thr331Arg)
c.1094C>G (p.Thr365Arg)
c.1034C>G (p.Thr345Arg)
n.4197-787G>C
c.917C>G (p.Thr306Arg)
c.935C>G (p.Thr312Arg)
c.692C>G (p.Thr231Arg)
c.725C>G (p.Thr242Arg)
c.743C>G (p.Thr248Arg)
2g.127427175C>TCA348402329PROCc.749C>T (p.Thr250Ile)
c.121-1182C>T
c.851C>T (p.Thr284Ile)
c.932C>T (p.Thr311Ile)
c.914C>T (p.Thr305Ile)
c.812C>T (p.Thr271Ile)
n.1486-787G>A
c.992C>T (p.Thr331Ile)
c.1094C>T (p.Thr365Ile)
c.1034C>T (p.Thr345Ile)
n.4197-787G>A
c.917C>T (p.Thr306Ile)
c.935C>T (p.Thr312Ile)
c.692C>T (p.Thr231Ile)
c.725C>T (p.Thr242Ile)
c.743C>T (p.Thr248Ile)
2g.127427176A>CCA428618615PROCc.750A>C (p.Thr250=)
c.121-1181A>C
c.852A>C (p.Thr284=)
c.933A>C (p.Thr311=)
c.915A>C (p.Thr305=)
c.813A>C (p.Thr271=)
n.1486-788T>G
c.993A>C (p.Thr331=)
c.1095A>C (p.Thr365=)
c.1035A>C (p.Thr345=)
n.4197-788T>G
c.918A>C (p.Thr306=)
c.936A>C (p.Thr312=)
c.693A>C (p.Thr231=)
c.726A>C (p.Thr242=)
c.744A>C (p.Thr248=)
2g.127427176A>GCA428618616PROCc.750A>G (p.Thr250=)
c.121-1181A>G
c.852A>G (p.Thr284=)
c.933A>G (p.Thr311=)
c.915A>G (p.Thr305=)
c.813A>G (p.Thr271=)
n.1486-788T>C
c.993A>G (p.Thr331=)
c.1095A>G (p.Thr365=)
c.1035A>G (p.Thr345=)
n.4197-788T>C
c.918A>G (p.Thr306=)
c.936A>G (p.Thr312=)
c.693A>G (p.Thr231=)
c.726A>G (p.Thr242=)
c.744A>G (p.Thr248=)
2g.127427176A>TCA428618617PROCc.750A>T (p.Thr250=)
c.121-1181A>T
c.852A>T (p.Thr284=)
c.933A>T (p.Thr311=)
c.915A>T (p.Thr305=)
c.813A>T (p.Thr271=)
n.1486-788T>A
c.993A>T (p.Thr331=)
c.1095A>T (p.Thr365=)
c.1035A>T (p.Thr345=)
n.4197-788T>A
c.918A>T (p.Thr306=)
c.936A>T (p.Thr312=)
c.693A>T (p.Thr231=)
c.726A>T (p.Thr242=)
c.744A>T (p.Thr248=)
2g.127427177G>ACA348402339PROCc.751G>A (p.Ala251Thr)
c.121-1180G>A
c.853G>A (p.Ala285Thr)
c.934G>A (p.Ala312Thr)
c.916G>A (p.Ala306Thr)
c.814G>A (p.Ala272Thr)
n.1486-789C>T
c.994G>A (p.Ala332Thr)
c.1096G>A (p.Ala366Thr)
c.1036G>A (p.Ala346Thr)
n.4197-789C>T
c.919G>A (p.Ala307Thr)
c.937G>A (p.Ala313Thr)
c.694G>A (p.Ala232Thr)
c.727G>A (p.Ala243Thr)
c.745G>A (p.Ala249Thr)
2g.127427177G>CCA348402341PROCc.751G>C (p.Ala251Pro)
c.121-1180G>C
c.853G>C (p.Ala285Pro)
c.934G>C (p.Ala312Pro)
c.916G>C (p.Ala306Pro)
c.814G>C (p.Ala272Pro)
n.1486-789C>G
c.994G>C (p.Ala332Pro)
c.1096G>C (p.Ala366Pro)
c.1036G>C (p.Ala346Pro)
n.4197-789C>G
c.919G>C (p.Ala307Pro)
c.937G>C (p.Ala313Pro)
c.694G>C (p.Ala232Pro)
c.727G>C (p.Ala243Pro)
c.745G>C (p.Ala249Pro)
2g.127427177G>TCA348402344PROCc.751G>T (p.Ala251Ser)
c.121-1180G>T
c.853G>T (p.Ala285Ser)
c.934G>T (p.Ala312Ser)
c.916G>T (p.Ala306Ser)
c.814G>T (p.Ala272Ser)
n.1486-789C>A
c.994G>T (p.Ala332Ser)
c.1096G>T (p.Ala366Ser)
c.1036G>T (p.Ala346Ser)
n.4197-789C>A
c.919G>T (p.Ala307Ser)
c.937G>T (p.Ala313Ser)
c.694G>T (p.Ala232Ser)
c.727G>T (p.Ala243Ser)
c.745G>T (p.Ala249Ser)
2g.127427178C>ACA348402346PROCc.752C>A (p.Ala251Glu)
c.121-1179C>A
c.854C>A (p.Ala285Glu)
c.935C>A (p.Ala312Glu)
c.917C>A (p.Ala306Glu)
c.815C>A (p.Ala272Glu)
n.1486-790G>T
c.995C>A (p.Ala332Glu)
c.1097C>A (p.Ala366Glu)
c.1037C>A (p.Ala346Glu)
n.4197-790G>T
c.920C>A (p.Ala307Glu)
c.938C>A (p.Ala313Glu)
c.695C>A (p.Ala232Glu)
c.728C>A (p.Ala243Glu)
c.746C>A (p.Ala249Glu)
 ClinVar dbSNP
2g.127427178C=CA1286883867PROCc.752C= (p.Ala251=)
c.121-1179C=
c.854C= (p.Ala285=)
c.935C= (p.Ala312=)
c.917C= (p.Ala306=)
c.815C= (p.Ala272=)
n.1486-790G=
c.995C= (p.Ala332=)
c.1097C= (p.Ala366=)
c.1037C= (p.Ala346=)
n.4197-790G=
c.920C= (p.Ala307=)
c.938C= (p.Ala313=)
c.695C= (p.Ala232=)
c.728C= (p.Ala243=)
c.746C= (p.Ala249=)
2g.127427178C>GCA348402348PROCc.752C>G (p.Ala251Gly)
c.121-1179C>G
c.854C>G (p.Ala285Gly)
c.935C>G (p.Ala312Gly)
c.917C>G (p.Ala306Gly)
c.815C>G (p.Ala272Gly)
n.1486-790G>C
c.995C>G (p.Ala332Gly)
c.1097C>G (p.Ala366Gly)
c.1037C>G (p.Ala346Gly)
n.4197-790G>C
c.920C>G (p.Ala307Gly)
c.938C>G (p.Ala313Gly)
c.695C>G (p.Ala232Gly)
c.728C>G (p.Ala243Gly)
c.746C>G (p.Ala249Gly)
2g.127427178C>TCA1859437PROCc.752C>T (p.Ala251Val)
c.121-1179C>T
c.854C>T (p.Ala285Val)
c.935C>T (p.Ala312Val)
c.917C>T (p.Ala306Val)
c.815C>T (p.Ala272Val)
n.1486-790G>A
c.995C>T (p.Ala332Val)
c.1097C>T (p.Ala366Val)
c.1037C>T (p.Ala346Val)
n.4197-790G>A
c.920C>T (p.Ala307Val)
c.938C>T (p.Ala313Val)
c.695C>T (p.Ala232Val)
c.728C>T (p.Ala243Val)
c.746C>T (p.Ala249Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427179G>ACA1859438PROCc.753G>A (p.Ala251=)
c.121-1178G>A
c.855G>A (p.Ala285=)
c.936G>A (p.Ala312=)
c.918G>A (p.Ala306=)
c.816G>A (p.Ala272=)
n.1486-791C>T
c.996G>A (p.Ala332=)
c.1098G>A (p.Ala366=)
c.1038G>A (p.Ala346=)
n.4197-791C>T
c.921G>A (p.Ala307=)
c.939G>A (p.Ala313=)
c.696G>A (p.Ala232=)
c.729G>A (p.Ala243=)
c.747G>A (p.Ala249=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427179G>CCA428618623PROCc.753G>C (p.Ala251=)
c.121-1178G>C
c.855G>C (p.Ala285=)
c.936G>C (p.Ala312=)
c.918G>C (p.Ala306=)
c.816G>C (p.Ala272=)
n.1486-791C>G
c.996G>C (p.Ala332=)
c.1098G>C (p.Ala366=)
c.1038G>C (p.Ala346=)
n.4197-791C>G
c.921G>C (p.Ala307=)
c.939G>C (p.Ala313=)
c.696G>C (p.Ala232=)
c.729G>C (p.Ala243=)
c.747G>C (p.Ala249=)
2g.127427179G=CA1286883868PROCc.753G= (p.Ala251=)
c.121-1178G=
c.855G= (p.Ala285=)
c.936G= (p.Ala312=)
c.918G= (p.Ala306=)
c.816G= (p.Ala272=)
n.1486-791C=
c.996G= (p.Ala332=)
c.1098G= (p.Ala366=)
c.1038G= (p.Ala346=)
n.4197-791C=
c.921G= (p.Ala307=)
c.939G= (p.Ala313=)
c.696G= (p.Ala232=)
c.729G= (p.Ala243=)
c.747G= (p.Ala249=)
2g.127427179G>TCA428618625PROCc.753G>T (p.Ala251=)
c.121-1178G>T
c.855G>T (p.Ala285=)
c.936G>T (p.Ala312=)
c.918G>T (p.Ala306=)
c.816G>T (p.Ala272=)
n.1486-791C>A
c.996G>T (p.Ala332=)
c.1098G>T (p.Ala366=)
c.1038G>T (p.Ala346=)
n.4197-791C>A
c.921G>T (p.Ala307=)
c.939G>T (p.Ala313=)
c.696G>T (p.Ala232=)
c.729G>T (p.Ala243=)
c.747G>T (p.Ala249=)
2g.127427180G>ACA55349385PROCc.754G>A (p.Ala252Thr)
c.121-1177G>A
c.856G>A (p.Ala286Thr)
c.937G>A (p.Ala313Thr)
c.919G>A (p.Ala307Thr)
c.817G>A (p.Ala273Thr)
n.1486-792C>T
c.997G>A (p.Ala333Thr)
c.1099G>A (p.Ala367Thr)
c.1039G>A (p.Ala347Thr)
n.4197-792C>T
c.922G>A (p.Ala308Thr)
c.940G>A (p.Ala314Thr)
c.697G>A (p.Ala233Thr)
c.730G>A (p.Ala244Thr)
c.748G>A (p.Ala250Thr)
 dbSNP
2g.127427180G>CCA348402349PROCc.754G>C (p.Ala252Pro)
c.121-1177G>C
c.856G>C (p.Ala286Pro)
c.937G>C (p.Ala313Pro)
c.919G>C (p.Ala307Pro)
c.817G>C (p.Ala273Pro)
n.1486-792C>G
c.997G>C (p.Ala333Pro)
c.1099G>C (p.Ala367Pro)
c.1039G>C (p.Ala347Pro)
n.4197-792C>G
c.922G>C (p.Ala308Pro)
c.940G>C (p.Ala314Pro)
c.697G>C (p.Ala233Pro)
c.730G>C (p.Ala244Pro)
c.748G>C (p.Ala250Pro)
2g.127427180G=CA1286883869PROCc.754G= (p.Ala252=)
c.121-1177G=
c.856G= (p.Ala286=)
c.937G= (p.Ala313=)
c.919G= (p.Ala307=)
c.817G= (p.Ala273=)
n.1486-792C=
c.997G= (p.Ala333=)
c.1099G= (p.Ala367=)
c.1039G= (p.Ala347=)
n.4197-792C=
c.922G= (p.Ala308=)
c.940G= (p.Ala314=)
c.697G= (p.Ala233=)
c.730G= (p.Ala244=)
c.748G= (p.Ala250=)
2g.127427180G>TCA348402356PROCc.754G>T (p.Ala252Ser)
c.121-1177G>T
c.856G>T (p.Ala286Ser)
c.937G>T (p.Ala313Ser)
c.919G>T (p.Ala307Ser)
c.817G>T (p.Ala273Ser)
n.1486-792C>A
c.997G>T (p.Ala333Ser)
c.1099G>T (p.Ala367Ser)
c.1039G>T (p.Ala347Ser)
n.4197-792C>A
c.922G>T (p.Ala308Ser)
c.940G>T (p.Ala314Ser)
c.697G>T (p.Ala233Ser)
c.730G>T (p.Ala244Ser)
c.748G>T (p.Ala250Ser)
2g.127427181C>ACA348402357PROCc.755C>A (p.Ala252Asp)
c.121-1176C>A
c.857C>A (p.Ala286Asp)
c.938C>A (p.Ala313Asp)
c.920C>A (p.Ala307Asp)
c.818C>A (p.Ala273Asp)
n.1486-793G>T
c.998C>A (p.Ala333Asp)
c.1100C>A (p.Ala367Asp)
c.1040C>A (p.Ala347Asp)
n.4197-793G>T
c.923C>A (p.Ala308Asp)
c.941C>A (p.Ala314Asp)
c.698C>A (p.Ala233Asp)
c.731C>A (p.Ala244Asp)
c.749C>A (p.Ala250Asp)
2g.127427181C=CA1286883870PROCc.755C= (p.Ala252=)
c.121-1176C=
c.857C= (p.Ala286=)
c.938C= (p.Ala313=)
c.920C= (p.Ala307=)
c.818C= (p.Ala273=)
n.1486-793G=
c.998C= (p.Ala333=)
c.1100C= (p.Ala367=)
c.1040C= (p.Ala347=)
n.4197-793G=
c.923C= (p.Ala308=)
c.941C= (p.Ala314=)
c.698C= (p.Ala233=)
c.731C= (p.Ala244=)
c.749C= (p.Ala250=)
2g.127427181C>GCA348402358PROCc.755C>G (p.Ala252Gly)
c.121-1176C>G
c.857C>G (p.Ala286Gly)
c.938C>G (p.Ala313Gly)
c.920C>G (p.Ala307Gly)
c.818C>G (p.Ala273Gly)
n.1486-793G>C
c.998C>G (p.Ala333Gly)
c.1100C>G (p.Ala367Gly)
c.1040C>G (p.Ala347Gly)
n.4197-793G>C
c.923C>G (p.Ala308Gly)
c.941C>G (p.Ala314Gly)
c.698C>G (p.Ala233Gly)
c.731C>G (p.Ala244Gly)
c.749C>G (p.Ala250Gly)
2g.127427181C>TCA348402363PROCc.755C>T (p.Ala252Val)
c.121-1176C>T
c.857C>T (p.Ala286Val)
c.938C>T (p.Ala313Val)
c.920C>T (p.Ala307Val)
c.818C>T (p.Ala273Val)
n.1486-793G>A
c.998C>T (p.Ala333Val)
c.1100C>T (p.Ala367Val)
c.1040C>T (p.Ala347Val)
n.4197-793G>A
c.923C>T (p.Ala308Val)
c.941C>T (p.Ala314Val)
c.698C>T (p.Ala233Val)
c.731C>T (p.Ala244Val)
c.749C>T (p.Ala250Val)
 dbSNP
2g.127427182C>ACA428618631PROCc.756C>A (p.Ala252=)
c.121-1175C>A
c.858C>A (p.Ala286=)
c.939C>A (p.Ala313=)
c.921C>A (p.Ala307=)
c.819C>A (p.Ala273=)
n.1486-794G>T
c.999C>A (p.Ala333=)
c.1101C>A (p.Ala367=)
c.1041C>A (p.Ala347=)
n.4197-794G>T
c.924C>A (p.Ala308=)
c.942C>A (p.Ala314=)
c.699C>A (p.Ala233=)
c.732C>A (p.Ala244=)
c.750C>A (p.Ala250=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427182C=CA1286883871PROCc.756C= (p.Ala252=)
c.121-1175C=
c.858C= (p.Ala286=)
c.939C= (p.Ala313=)
c.921C= (p.Ala307=)
c.819C= (p.Ala273=)
n.1486-794G=
c.999C= (p.Ala333=)
c.1101C= (p.Ala367=)
c.1041C= (p.Ala347=)
n.4197-794G=
c.924C= (p.Ala308=)
c.942C= (p.Ala314=)
c.699C= (p.Ala233=)
c.732C= (p.Ala244=)
c.750C= (p.Ala250=)
2g.127427182C>GCA428618633PROCc.756C>G (p.Ala252=)
c.121-1175C>G
c.858C>G (p.Ala286=)
c.939C>G (p.Ala313=)
c.921C>G (p.Ala307=)
c.819C>G (p.Ala273=)
n.1486-794G>C
c.999C>G (p.Ala333=)
c.1101C>G (p.Ala367=)
c.1041C>G (p.Ala347=)
n.4197-794G>C
c.924C>G (p.Ala308=)
c.942C>G (p.Ala314=)
c.699C>G (p.Ala233=)
c.732C>G (p.Ala244=)
c.750C>G (p.Ala250=)
2g.127427182C>TCA428618634PROCc.756C>T (p.Ala252=)
c.121-1175C>T
c.858C>T (p.Ala286=)
c.939C>T (p.Ala313=)
c.921C>T (p.Ala307=)
c.819C>T (p.Ala273=)
n.1486-794G>A
c.999C>T (p.Ala333=)
c.1101C>T (p.Ala367=)
c.1041C>T (p.Ala347=)
n.4197-794G>A
c.924C>T (p.Ala308=)
c.942C>T (p.Ala314=)
c.699C>T (p.Ala233=)
c.732C>T (p.Ala244=)
c.750C>T (p.Ala250=)
 dbSNP gnomAD v2
2g.127427183C>ACA348402387PROCc.757C>A (p.His253Asn)
c.121-1174C>A
c.859C>A (p.His287Asn)
c.940C>A (p.His314Asn)
c.922C>A (p.His308Asn)
c.820C>A (p.His274Asn)
n.1486-795G>T
c.1000C>A (p.His334Asn)
c.1102C>A (p.His368Asn)
c.1042C>A (p.His348Asn)
n.4197-795G>T
c.925C>A (p.His309Asn)
c.943C>A (p.His315Asn)
c.700C>A (p.His234Asn)
c.733C>A (p.His245Asn)
c.751C>A (p.His251Asn)
2g.127427183C>GCA348402383PROCc.757C>G (p.His253Asp)
c.121-1174C>G
c.859C>G (p.His287Asp)
c.940C>G (p.His314Asp)
c.922C>G (p.His308Asp)
c.820C>G (p.His274Asp)
n.1486-795G>C
c.1000C>G (p.His334Asp)
c.1102C>G (p.His368Asp)
c.1042C>G (p.His348Asp)
n.4197-795G>C
c.925C>G (p.His309Asp)
c.943C>G (p.His315Asp)
c.700C>G (p.His234Asp)
c.733C>G (p.His245Asp)
c.751C>G (p.His251Asp)
2g.127427183C>TCA348402376PROCc.757C>T (p.His253Tyr)
c.121-1174C>T
c.859C>T (p.His287Tyr)
c.940C>T (p.His314Tyr)
c.922C>T (p.His308Tyr)
c.820C>T (p.His274Tyr)
n.1486-795G>A
c.1000C>T (p.His334Tyr)
c.1102C>T (p.His368Tyr)
c.1042C>T (p.His348Tyr)
n.4197-795G>A
c.925C>T (p.His309Tyr)
c.943C>T (p.His315Tyr)
c.700C>T (p.His234Tyr)
c.733C>T (p.His245Tyr)
c.751C>T (p.His251Tyr)
2g.127427184A=CA1286883872PROCc.758A= (p.His253=)
c.121-1173A=
c.860A= (p.His287=)
c.941A= (p.His314=)
c.923A= (p.His308=)
c.821A= (p.His274=)
n.1486-796T=
c.1001A= (p.His334=)
c.1103A= (p.His368=)
c.1043A= (p.His348=)
n.4197-796T=
c.926A= (p.His309=)
c.944A= (p.His315=)
c.701A= (p.His234=)
c.734A= (p.His245=)
c.752A= (p.His251=)
2g.127427184A>CCA348402389PROCc.758A>C (p.His253Pro)
c.121-1173A>C
c.860A>C (p.His287Pro)
c.941A>C (p.His314Pro)
c.923A>C (p.His308Pro)
c.821A>C (p.His274Pro)
n.1486-796T>G
c.1001A>C (p.His334Pro)
c.1103A>C (p.His368Pro)
c.1043A>C (p.His348Pro)
n.4197-796T>G
c.926A>C (p.His309Pro)
c.944A>C (p.His315Pro)
c.701A>C (p.His234Pro)
c.734A>C (p.His245Pro)
c.752A>C (p.His251Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.127427184A>GCA348402390PROCc.758A>G (p.His253Arg)
c.121-1173A>G
c.860A>G (p.His287Arg)
c.941A>G (p.His314Arg)
c.923A>G (p.His308Arg)
c.821A>G (p.His274Arg)
n.1486-796T>C
c.1001A>G (p.His334Arg)
c.1103A>G (p.His368Arg)
c.1043A>G (p.His348Arg)
n.4197-796T>C
c.926A>G (p.His309Arg)
c.944A>G (p.His315Arg)
c.701A>G (p.His234Arg)
c.734A>G (p.His245Arg)
c.752A>G (p.His251Arg)
2g.127427184A>TCA348402391PROCc.758A>T (p.His253Leu)
c.121-1173A>T
c.860A>T (p.His287Leu)
c.941A>T (p.His314Leu)
c.923A>T (p.His308Leu)
c.821A>T (p.His274Leu)
n.1486-796T>A
c.1001A>T (p.His334Leu)
c.1103A>T (p.His368Leu)
c.1043A>T (p.His348Leu)
n.4197-796T>A
c.926A>T (p.His309Leu)
c.944A>T (p.His315Leu)
c.701A>T (p.His234Leu)
c.734A>T (p.His245Leu)
c.752A>T (p.His251Leu)
2g.127427185C>ACA348402392PROCc.759C>A (p.His253Gln)
c.121-1172C>A
c.861C>A (p.His287Gln)
c.942C>A (p.His314Gln)
c.924C>A (p.His308Gln)
c.822C>A (p.His274Gln)
n.1486-797G>T
c.1002C>A (p.His334Gln)
c.1104C>A (p.His368Gln)
c.1044C>A (p.His348Gln)
n.4197-797G>T
c.927C>A (p.His309Gln)
c.945C>A (p.His315Gln)
c.702C>A (p.His234Gln)
c.735C>A (p.His245Gln)
c.753C>A (p.His251Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427185C=CA1286883873PROCc.759C= (p.His253=)
c.121-1172C=
c.861C= (p.His287=)
c.942C= (p.His314=)
c.924C= (p.His308=)
c.822C= (p.His274=)
n.1486-797G=
c.1002C= (p.His334=)
c.1104C= (p.His368=)
c.1044C= (p.His348=)
n.4197-797G=
c.927C= (p.His309=)
c.945C= (p.His315=)
c.702C= (p.His234=)
c.735C= (p.His245=)
c.753C= (p.His251=)
2g.127427185C>GCA348402394PROCc.759C>G (p.His253Gln)
c.121-1172C>G
c.861C>G (p.His287Gln)
c.942C>G (p.His314Gln)
c.924C>G (p.His308Gln)
c.822C>G (p.His274Gln)
n.1486-797G>C
c.1002C>G (p.His334Gln)
c.1104C>G (p.His368Gln)
c.1044C>G (p.His348Gln)
n.4197-797G>C
c.927C>G (p.His309Gln)
c.945C>G (p.His315Gln)
c.702C>G (p.His234Gln)
c.735C>G (p.His245Gln)
c.753C>G (p.His251Gln)
2g.127427185C>TCA428618639PROCc.759C>T (p.His253=)
c.121-1172C>T
c.861C>T (p.His287=)
c.942C>T (p.His314=)
c.924C>T (p.His308=)
c.822C>T (p.His274=)
n.1486-797G>A
c.1002C>T (p.His334=)
c.1104C>T (p.His368=)
c.1044C>T (p.His348=)
n.4197-797G>A
c.927C>T (p.His309=)
c.945C>T (p.His315=)
c.702C>T (p.His234=)
c.735C>T (p.His245=)
c.753C>T (p.His251=)
 gnomAD v4
2g.127427186T>ACA348402396PROCc.760T>A (p.Cys254Ser)
c.121-1171T>A
c.862T>A (p.Cys288Ser)
c.943T>A (p.Cys315Ser)
c.925T>A (p.Cys309Ser)
c.823T>A (p.Cys275Ser)
n.1486-798A>T
c.1003T>A (p.Cys335Ser)
c.1105T>A (p.Cys369Ser)
c.1045T>A (p.Cys349Ser)
n.4197-798A>T
c.928T>A (p.Cys310Ser)
c.946T>A (p.Cys316Ser)
c.703T>A (p.Cys235Ser)
c.736T>A (p.Cys246Ser)
c.754T>A (p.Cys252Ser)
2g.127427186T>CCA348402397PROCc.760T>C (p.Cys254Arg)
c.121-1171T>C
c.862T>C (p.Cys288Arg)
c.943T>C (p.Cys315Arg)
c.925T>C (p.Cys309Arg)
c.823T>C (p.Cys275Arg)
n.1486-798A>G
c.1003T>C (p.Cys335Arg)
c.1105T>C (p.Cys369Arg)
c.1045T>C (p.Cys349Arg)
n.4197-798A>G
c.928T>C (p.Cys310Arg)
c.946T>C (p.Cys316Arg)
c.703T>C (p.Cys235Arg)
c.736T>C (p.Cys246Arg)
c.754T>C (p.Cys252Arg)
 dbSNP
2g.127427186T>GCA348402398PROCc.760T>G (p.Cys254Gly)
c.121-1171T>G
c.862T>G (p.Cys288Gly)
c.943T>G (p.Cys315Gly)
c.925T>G (p.Cys309Gly)
c.823T>G (p.Cys275Gly)
n.1486-798A>C
c.1003T>G (p.Cys335Gly)
c.1105T>G (p.Cys369Gly)
c.1045T>G (p.Cys349Gly)
n.4197-798A>C
c.928T>G (p.Cys310Gly)
c.946T>G (p.Cys316Gly)
c.703T>G (p.Cys235Gly)
c.736T>G (p.Cys246Gly)
c.754T>G (p.Cys252Gly)
2g.127427186T=CA1286883874PROCc.760T= (p.Cys254=)
c.121-1171T=
c.862T= (p.Cys288=)
c.943T= (p.Cys315=)
c.925T= (p.Cys309=)
c.823T= (p.Cys275=)
n.1486-798A=
c.1003T= (p.Cys335=)
c.1105T= (p.Cys369=)
c.1045T= (p.Cys349=)
n.4197-798A=
c.928T= (p.Cys310=)
c.946T= (p.Cys316=)
c.703T= (p.Cys235=)
c.736T= (p.Cys246=)
c.754T= (p.Cys252=)
2g.127427187G>ACA348402405PROCc.761G>A (p.Cys254Tyr)
c.121-1170G>A
c.863G>A (p.Cys288Tyr)
c.944G>A (p.Cys315Tyr)
c.926G>A (p.Cys309Tyr)
c.824G>A (p.Cys275Tyr)
n.1486-799C>T
c.1004G>A (p.Cys335Tyr)
c.1106G>A (p.Cys369Tyr)
c.1046G>A (p.Cys349Tyr)
n.4197-799C>T
c.929G>A (p.Cys310Tyr)
c.947G>A (p.Cys316Tyr)
c.704G>A (p.Cys235Tyr)
c.737G>A (p.Cys246Tyr)
c.755G>A (p.Cys252Tyr)
2g.127427187G>CCA348402416PROCc.761G>C (p.Cys254Ser)
c.121-1170G>C
c.863G>C (p.Cys288Ser)
c.944G>C (p.Cys315Ser)
c.926G>C (p.Cys309Ser)
c.824G>C (p.Cys275Ser)
n.1486-799C>G
c.1004G>C (p.Cys335Ser)
c.1106G>C (p.Cys369Ser)
c.1046G>C (p.Cys349Ser)
n.4197-799C>G
c.929G>C (p.Cys310Ser)
c.947G>C (p.Cys316Ser)
c.704G>C (p.Cys235Ser)
c.737G>C (p.Cys246Ser)
c.755G>C (p.Cys252Ser)
2g.127427187G>TCA348402418PROCc.761G>T (p.Cys254Phe)
c.121-1170G>T
c.863G>T (p.Cys288Phe)
c.944G>T (p.Cys315Phe)
c.926G>T (p.Cys309Phe)
c.824G>T (p.Cys275Phe)
n.1486-799C>A
c.1004G>T (p.Cys335Phe)
c.1106G>T (p.Cys369Phe)
c.1046G>T (p.Cys349Phe)
n.4197-799C>A
c.929G>T (p.Cys310Phe)
c.947G>T (p.Cys316Phe)
c.704G>T (p.Cys235Phe)
c.737G>T (p.Cys246Phe)
c.755G>T (p.Cys252Phe)
 COSMIC
2g.127427188C>ACA348402422PROCc.762C>A (p.Cys254Ter)
c.121-1169C>A
c.864C>A (p.Cys288Ter)
c.945C>A (p.Cys315Ter)
c.927C>A (p.Cys309Ter)
c.825C>A (p.Cys275Ter)
n.1486-800G>T
c.1005C>A (p.Cys335Ter)
c.1107C>A (p.Cys369Ter)
c.1047C>A (p.Cys349Ter)
n.4197-800G>T
c.930C>A (p.Cys310Ter)
c.948C>A (p.Cys316Ter)
c.705C>A (p.Cys235Ter)
c.738C>A (p.Cys246Ter)
c.756C>A (p.Cys252Ter)
 dbSNP
2g.127427188C=CA1286883875PROCc.762C= (p.Cys254=)
c.121-1169C=
c.864C= (p.Cys288=)
c.945C= (p.Cys315=)
c.927C= (p.Cys309=)
c.825C= (p.Cys275=)
n.1486-800G=
c.1005C= (p.Cys335=)
c.1107C= (p.Cys369=)
c.1047C= (p.Cys349=)
n.4197-800G=
c.930C= (p.Cys310=)
c.948C= (p.Cys316=)
c.705C= (p.Cys235=)
c.738C= (p.Cys246=)
c.756C= (p.Cys252=)
2g.127427188C>GCA348402425PROCc.762C>G (p.Cys254Trp)
c.121-1169C>G
c.864C>G (p.Cys288Trp)
c.945C>G (p.Cys315Trp)
c.927C>G (p.Cys309Trp)
c.825C>G (p.Cys275Trp)
n.1486-800G>C
c.1005C>G (p.Cys335Trp)
c.1107C>G (p.Cys369Trp)
c.1047C>G (p.Cys349Trp)
n.4197-800G>C
c.930C>G (p.Cys310Trp)
c.948C>G (p.Cys316Trp)
c.705C>G (p.Cys235Trp)
c.738C>G (p.Cys246Trp)
c.756C>G (p.Cys252Trp)
2g.127427188C>TCA428618642PROCc.762C>T (p.Cys254=)
c.121-1169C>T
c.864C>T (p.Cys288=)
c.945C>T (p.Cys315=)
c.927C>T (p.Cys309=)
c.825C>T (p.Cys275=)
n.1486-800G>A
c.1005C>T (p.Cys335=)
c.1107C>T (p.Cys369=)
c.1047C>T (p.Cys349=)
n.4197-800G>A
c.930C>T (p.Cys310=)
c.948C>T (p.Cys316=)
c.705C>T (p.Cys235=)
c.738C>T (p.Cys246=)
c.756C>T (p.Cys252=)
2g.127427189A>CCA348402432PROCc.763A>C (p.Met255Leu)
c.121-1168A>C
c.865A>C (p.Met289Leu)
c.946A>C (p.Met316Leu)
c.928A>C (p.Met310Leu)
c.826A>C (p.Met276Leu)
n.1486-801T>G
c.1006A>C (p.Met336Leu)
c.1108A>C (p.Met370Leu)
c.1048A>C (p.Met350Leu)
n.4197-801T>G
c.931A>C (p.Met311Leu)
c.949A>C (p.Met317Leu)
c.706A>C (p.Met236Leu)
c.739A>C (p.Met247Leu)
c.757A>C (p.Met253Leu)
2g.127427189A>GCA348402436PROCc.763A>G (p.Met255Val)
c.121-1168A>G
c.865A>G (p.Met289Val)
c.946A>G (p.Met316Val)
c.928A>G (p.Met310Val)
c.826A>G (p.Met276Val)
n.1486-801T>C
c.1006A>G (p.Met336Val)
c.1108A>G (p.Met370Val)
c.1048A>G (p.Met350Val)
n.4197-801T>C
c.931A>G (p.Met311Val)
c.949A>G (p.Met317Val)
c.706A>G (p.Met236Val)
c.739A>G (p.Met247Val)
c.757A>G (p.Met253Val)
2g.127427189A>TCA348402429PROCc.763A>T (p.Met255Leu)
c.121-1168A>T
c.865A>T (p.Met289Leu)
c.946A>T (p.Met316Leu)
c.928A>T (p.Met310Leu)
c.826A>T (p.Met276Leu)
n.1486-801T>A
c.1006A>T (p.Met336Leu)
c.1108A>T (p.Met370Leu)
c.1048A>T (p.Met350Leu)
n.4197-801T>A
c.931A>T (p.Met311Leu)
c.949A>T (p.Met317Leu)
c.706A>T (p.Met236Leu)
c.739A>T (p.Met247Leu)
c.757A>T (p.Met253Leu)
2g.127427190T>ACA348402443PROCc.764T>A (p.Met255Lys)
c.121-1167T>A
c.866T>A (p.Met289Lys)
c.947T>A (p.Met316Lys)
c.929T>A (p.Met310Lys)
c.827T>A (p.Met276Lys)
n.1486-802A>T
c.1007T>A (p.Met336Lys)
c.1109T>A (p.Met370Lys)
c.1049T>A (p.Met350Lys)
n.4197-802A>T
c.932T>A (p.Met311Lys)
c.950T>A (p.Met317Lys)
c.707T>A (p.Met236Lys)
c.740T>A (p.Met247Lys)
c.758T>A (p.Met253Lys)
2g.127427190T>CCA348402444PROCc.764T>C (p.Met255Thr)
c.121-1167T>C
c.866T>C (p.Met289Thr)
c.947T>C (p.Met316Thr)
c.929T>C (p.Met310Thr)
c.827T>C (p.Met276Thr)
n.1486-802A>G
c.1007T>C (p.Met336Thr)
c.1109T>C (p.Met370Thr)
c.1049T>C (p.Met350Thr)
n.4197-802A>G
c.932T>C (p.Met311Thr)
c.950T>C (p.Met317Thr)
c.707T>C (p.Met236Thr)
c.740T>C (p.Met247Thr)
c.758T>C (p.Met253Thr)
2g.127427190T>GCA348402447PROCc.764T>G (p.Met255Arg)
c.121-1167T>G
c.866T>G (p.Met289Arg)
c.947T>G (p.Met316Arg)
c.929T>G (p.Met310Arg)
c.827T>G (p.Met276Arg)
n.1486-802A>C
c.1007T>G (p.Met336Arg)
c.1109T>G (p.Met370Arg)
c.1049T>G (p.Met350Arg)
n.4197-802A>C
c.932T>G (p.Met311Arg)
c.950T>G (p.Met317Arg)
c.707T>G (p.Met236Arg)
c.740T>G (p.Met247Arg)
c.758T>G (p.Met253Arg)
2g.127427191G>ACA1859439PROCc.765G>A (p.Met255Ile)
c.121-1166G>A
c.867G>A (p.Met289Ile)
c.948G>A (p.Met316Ile)
c.930G>A (p.Met310Ile)
c.828G>A (p.Met276Ile)
n.1486-803C>T
c.1008G>A (p.Met336Ile)
c.1110G>A (p.Met370Ile)
c.1050G>A (p.Met350Ile)
n.4197-803C>T
c.933G>A (p.Met311Ile)
c.951G>A (p.Met317Ile)
c.708G>A (p.Met236Ile)
c.741G>A (p.Met247Ile)
c.759G>A (p.Met253Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.127427191G>CCA348402450PROCc.765G>C (p.Met255Ile)
c.121-1166G>C
c.867G>C (p.Met289Ile)
c.948G>C (p.Met316Ile)
c.930G>C (p.Met310Ile)
c.828G>C (p.Met276Ile)
n.1486-803C>G
c.1008G>C (p.Met336Ile)
c.1110G>C (p.Met370Ile)
c.1050G>C (p.Met350Ile)
n.4197-803C>G
c.933G>C (p.Met311Ile)
c.951G>C (p.Met317Ile)
c.708G>C (p.Met236Ile)
c.741G>C (p.Met247Ile)
c.759G>C (p.Met253Ile)
2g.127427191G=CA1286883876PROCc.765G= (p.Met255=)
c.121-1166G=
c.867G= (p.Met289=)
c.948G= (p.Met316=)
c.930G= (p.Met310=)
c.828G= (p.Met276=)
n.1486-803C=
c.1008G= (p.Met336=)
c.1110G= (p.Met370=)
c.1050G= (p.Met350=)
n.4197-803C=
c.933G= (p.Met311=)
c.951G= (p.Met317=)
c.708G= (p.Met236=)
c.741G= (p.Met247=)
c.759G= (p.Met253=)
2g.127427191G>TCA348402451PROCc.765G>T (p.Met255Ile)
c.121-1166G>T
c.867G>T (p.Met289Ile)
c.948G>T (p.Met316Ile)
c.930G>T (p.Met310Ile)
c.828G>T (p.Met276Ile)
n.1486-803C>A
c.1008G>T (p.Met336Ile)
c.1110G>T (p.Met370Ile)
c.1050G>T (p.Met350Ile)
n.4197-803C>A
c.933G>T (p.Met311Ile)
c.951G>T (p.Met317Ile)
c.708G>T (p.Met236Ile)
c.741G>T (p.Met247Ile)
c.759G>T (p.Met253Ile)
2g.127427192G>ACA348402454PROCc.766G>A (p.Asp256Asn)
c.121-1165G>A
c.868G>A (p.Asp290Asn)
c.949G>A (p.Asp317Asn)
c.931G>A (p.Asp311Asn)
c.829G>A (p.Asp277Asn)
n.1486-804C>T
c.1009G>A (p.Asp337Asn)
c.1111G>A (p.Asp371Asn)
c.1051G>A (p.Asp351Asn)
n.4197-804C>T
c.934G>A (p.Asp312Asn)
c.952G>A (p.Asp318Asn)
c.709G>A (p.Asp237Asn)
c.742G>A (p.Asp248Asn)
c.760G>A (p.Asp254Asn)
2g.127427192G>CCA348402456PROCc.766G>C (p.Asp256His)
c.121-1165G>C
c.868G>C (p.Asp290His)
c.949G>C (p.Asp317His)
c.931G>C (p.Asp311His)
c.829G>C (p.Asp277His)
n.1486-804C>G
c.1009G>C (p.Asp337His)
c.1111G>C (p.Asp371His)
c.1051G>C (p.Asp351His)
n.4197-804C>G
c.934G>C (p.Asp312His)
c.952G>C (p.Asp318His)
c.709G>C (p.Asp237His)
c.742G>C (p.Asp248His)
c.760G>C (p.Asp254His)
2g.127427192G>TCA348402459PROCc.766G>T (p.Asp256Tyr)
c.121-1165G>T
c.868G>T (p.Asp290Tyr)
c.949G>T (p.Asp317Tyr)
c.931G>T (p.Asp311Tyr)
c.829G>T (p.Asp277Tyr)
n.1486-804C>A
c.1009G>T (p.Asp337Tyr)
c.1111G>T (p.Asp371Tyr)
c.1051G>T (p.Asp351Tyr)
n.4197-804C>A
c.934G>T (p.Asp312Tyr)
c.952G>T (p.Asp318Tyr)
c.709G>T (p.Asp237Tyr)
c.742G>T (p.Asp248Tyr)
c.760G>T (p.Asp254Tyr)
2g.127427193A>CCA348402462PROCc.767A>C (p.Asp256Ala)
c.121-1164A>C
c.869A>C (p.Asp290Ala)
c.950A>C (p.Asp317Ala)
c.932A>C (p.Asp311Ala)
c.830A>C (p.Asp277Ala)
n.1486-805T>G
c.1010A>C (p.Asp337Ala)
c.1112A>C (p.Asp371Ala)
c.1052A>C (p.Asp351Ala)
n.4197-805T>G
c.935A>C (p.Asp312Ala)
c.953A>C (p.Asp318Ala)
c.710A>C (p.Asp237Ala)
c.743A>C (p.Asp248Ala)
c.761A>C (p.Asp254Ala)
2g.127427193A>GCA348402466PROCc.767A>G (p.Asp256Gly)
c.121-1164A>G
c.869A>G (p.Asp290Gly)
c.950A>G (p.Asp317Gly)
c.932A>G (p.Asp311Gly)
c.830A>G (p.Asp277Gly)
n.1486-805T>C
c.1010A>G (p.Asp337Gly)
c.1112A>G (p.Asp371Gly)
c.1052A>G (p.Asp351Gly)
n.4197-805T>C
c.935A>G (p.Asp312Gly)
c.953A>G (p.Asp318Gly)
c.710A>G (p.Asp237Gly)
c.743A>G (p.Asp248Gly)
c.761A>G (p.Asp254Gly)
2g.127427193A>TCA348402468PROCc.767A>T (p.Asp256Val)
c.121-1164A>T
c.869A>T (p.Asp290Val)
c.950A>T (p.Asp317Val)
c.932A>T (p.Asp311Val)
c.830A>T (p.Asp277Val)
n.1486-805T>A
c.1010A>T (p.Asp337Val)
c.1112A>T (p.Asp371Val)
c.1052A>T (p.Asp351Val)
n.4197-805T>A
c.935A>T (p.Asp312Val)
c.953A>T (p.Asp318Val)
c.710A>T (p.Asp237Val)
c.743A>T (p.Asp248Val)
c.761A>T (p.Asp254Val)
2g.127427194T>ACA348402477PROCc.768T>A (p.Asp256Glu)
c.121-1163T>A
c.870T>A (p.Asp290Glu)
c.951T>A (p.Asp317Glu)
c.933T>A (p.Asp311Glu)
c.831T>A (p.Asp277Glu)
n.1486-806A>T
c.1011T>A (p.Asp337Glu)
c.1113T>A (p.Asp371Glu)
c.1053T>A (p.Asp351Glu)
n.4197-806A>T
c.936T>A (p.Asp312Glu)
c.954T>A (p.Asp318Glu)
c.711T>A (p.Asp237Glu)
c.744T>A (p.Asp248Glu)
c.762T>A (p.Asp254Glu)
 dbSNP
2g.127427194T>CCA1859440PROCc.768T>C (p.Asp256=)
c.121-1163T>C
c.870T>C (p.Asp290=)
c.951T>C (p.Asp317=)
c.933T>C (p.Asp311=)
c.831T>C (p.Asp277=)
n.1486-806A>G
c.1011T>C (p.Asp337=)
c.1113T>C (p.Asp371=)
c.1053T>C (p.Asp351=)
n.4197-806A>G
c.936T>C (p.Asp312=)
c.954T>C (p.Asp318=)
c.711T>C (p.Asp237=)
c.744T>C (p.Asp248=)
c.762T>C (p.Asp254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427194T>GCA348402474PROCc.768T>G (p.Asp256Glu)
c.121-1163T>G
c.870T>G (p.Asp290Glu)
c.951T>G (p.Asp317Glu)
c.933T>G (p.Asp311Glu)
c.831T>G (p.Asp277Glu)
n.1486-806A>C
c.1011T>G (p.Asp337Glu)
c.1113T>G (p.Asp371Glu)
c.1053T>G (p.Asp351Glu)
n.4197-806A>C
c.936T>G (p.Asp312Glu)
c.954T>G (p.Asp318Glu)
c.711T>G (p.Asp237Glu)
c.744T>G (p.Asp248Glu)
c.762T>G (p.Asp254Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427194T=CA1286883877PROCc.768T= (p.Asp256=)
c.121-1163T=
c.870T= (p.Asp290=)
c.951T= (p.Asp317=)
c.933T= (p.Asp311=)
c.831T= (p.Asp277=)
n.1486-806A=
c.1011T= (p.Asp337=)
c.1113T= (p.Asp371=)
c.1053T= (p.Asp351=)
n.4197-806A=
c.936T= (p.Asp312=)
c.954T= (p.Asp318=)
c.711T= (p.Asp237=)
c.744T= (p.Asp248=)
c.762T= (p.Asp254=)
2g.127427195G>ACA348402480PROCc.769G>A (p.Glu257Lys)
c.121-1162G>A
c.871G>A (p.Glu291Lys)
c.952G>A (p.Glu318Lys)
c.934G>A (p.Glu312Lys)
c.832G>A (p.Glu278Lys)
n.1486-807C>T
c.1012G>A (p.Glu338Lys)
c.1114G>A (p.Glu372Lys)
c.1054G>A (p.Glu352Lys)
n.4197-807C>T
c.937G>A (p.Glu313Lys)
c.955G>A (p.Glu319Lys)
c.712G>A (p.Glu238Lys)
c.745G>A (p.Glu249Lys)
c.763G>A (p.Glu255Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427195G>CCA348402482PROCc.769G>C (p.Glu257Gln)
c.121-1162G>C
c.871G>C (p.Glu291Gln)
c.952G>C (p.Glu318Gln)
c.934G>C (p.Glu312Gln)
c.832G>C (p.Glu278Gln)
n.1486-807C>G
c.1012G>C (p.Glu338Gln)
c.1114G>C (p.Glu372Gln)
c.1054G>C (p.Glu352Gln)
n.4197-807C>G
c.937G>C (p.Glu313Gln)
c.955G>C (p.Glu319Gln)
c.712G>C (p.Glu238Gln)
c.745G>C (p.Glu249Gln)
c.763G>C (p.Glu255Gln)
2g.127427195G=CA1286883878PROCc.769G= (p.Glu257=)
c.121-1162G=
c.871G= (p.Glu291=)
c.952G= (p.Glu318=)
c.934G= (p.Glu312=)
c.832G= (p.Glu278=)
n.1486-807C=
c.1012G= (p.Glu338=)
c.1114G= (p.Glu372=)
c.1054G= (p.Glu352=)
n.4197-807C=
c.937G= (p.Glu313=)
c.955G= (p.Glu319=)
c.712G= (p.Glu238=)
c.745G= (p.Glu249=)
c.763G= (p.Glu255=)
2g.127427195G>TCA348402488PROCc.769G>T (p.Glu257Ter)
c.121-1162G>T
c.871G>T (p.Glu291Ter)
c.952G>T (p.Glu318Ter)
c.934G>T (p.Glu312Ter)
c.832G>T (p.Glu278Ter)
n.1486-807C>A
c.1012G>T (p.Glu338Ter)
c.1114G>T (p.Glu372Ter)
c.1054G>T (p.Glu352Ter)
n.4197-807C>A
c.937G>T (p.Glu313Ter)
c.955G>T (p.Glu319Ter)
c.712G>T (p.Glu238Ter)
c.745G>T (p.Glu249Ter)
c.763G>T (p.Glu255Ter)
2g.127427196A>CCA348402492PROCc.770A>C (p.Glu257Ala)
c.121-1161A>C
c.872A>C (p.Glu291Ala)
c.953A>C (p.Glu318Ala)
c.935A>C (p.Glu312Ala)
c.833A>C (p.Glu278Ala)
n.1486-808T>G
c.1013A>C (p.Glu338Ala)
c.1115A>C (p.Glu372Ala)
c.1055A>C (p.Glu352Ala)
n.4197-808T>G
c.938A>C (p.Glu313Ala)
c.956A>C (p.Glu319Ala)
c.713A>C (p.Glu238Ala)
c.746A>C (p.Glu249Ala)
c.764A>C (p.Glu255Ala)
2g.127427196A>GCA348402493PROCc.770A>G (p.Glu257Gly)
c.121-1161A>G
c.872A>G (p.Glu291Gly)
c.953A>G (p.Glu318Gly)
c.935A>G (p.Glu312Gly)
c.833A>G (p.Glu278Gly)
n.1486-808T>C
c.1013A>G (p.Glu338Gly)
c.1115A>G (p.Glu372Gly)
c.1055A>G (p.Glu352Gly)
n.4197-808T>C
c.938A>G (p.Glu313Gly)
c.956A>G (p.Glu319Gly)
c.713A>G (p.Glu238Gly)
c.746A>G (p.Glu249Gly)
c.764A>G (p.Glu255Gly)
2g.127427196A>TCA348402494PROCc.770A>T (p.Glu257Val)
c.121-1161A>T
c.872A>T (p.Glu291Val)
c.953A>T (p.Glu318Val)
c.935A>T (p.Glu312Val)
c.833A>T (p.Glu278Val)
n.1486-808T>A
c.1013A>T (p.Glu338Val)
c.1115A>T (p.Glu372Val)
c.1055A>T (p.Glu352Val)
n.4197-808T>A
c.938A>T (p.Glu313Val)
c.956A>T (p.Glu319Val)
c.713A>T (p.Glu238Val)
c.746A>T (p.Glu249Val)
c.764A>T (p.Glu255Val)
2g.127427197G>ACA428618651PROCc.771G>A (p.Glu257=)
c.121-1160G>A
c.873G>A (p.Glu291=)
c.954G>A (p.Glu318=)
c.936G>A (p.Glu312=)
c.834G>A (p.Glu278=)
n.1486-809C>T
c.1014G>A (p.Glu338=)
c.1116G>A (p.Glu372=)
c.1056G>A (p.Glu352=)
n.4197-809C>T
c.939G>A (p.Glu313=)
c.957G>A (p.Glu319=)
c.714G>A (p.Glu238=)
c.747G>A (p.Glu249=)
c.765G>A (p.Glu255=)
 dbSNP gnomAD v3 gnomAD v4
2g.127427197G>CCA348402497PROCc.771G>C (p.Glu257Asp)
c.121-1160G>C
c.873G>C (p.Glu291Asp)
c.954G>C (p.Glu318Asp)
c.936G>C (p.Glu312Asp)
c.834G>C (p.Glu278Asp)
n.1486-809C>G
c.1014G>C (p.Glu338Asp)
c.1116G>C (p.Glu372Asp)
c.1056G>C (p.Glu352Asp)
n.4197-809C>G
c.939G>C (p.Glu313Asp)
c.957G>C (p.Glu319Asp)
c.714G>C (p.Glu238Asp)
c.747G>C (p.Glu249Asp)
c.765G>C (p.Glu255Asp)
2g.127427197G=CA1286883879PROCc.771G= (p.Glu257=)
c.121-1160G=
c.873G= (p.Glu291=)
c.954G= (p.Glu318=)
c.936G= (p.Glu312=)
c.834G= (p.Glu278=)
n.1486-809C=
c.1014G= (p.Glu338=)
c.1116G= (p.Glu372=)
c.1056G= (p.Glu352=)
n.4197-809C=
c.939G= (p.Glu313=)
c.957G= (p.Glu319=)
c.714G= (p.Glu238=)
c.747G= (p.Glu249=)
c.765G= (p.Glu255=)
2g.127427197G>TCA348402500PROCc.771G>T (p.Glu257Asp)
c.121-1160G>T
c.873G>T (p.Glu291Asp)
c.954G>T (p.Glu318Asp)
c.936G>T (p.Glu312Asp)
c.834G>T (p.Glu278Asp)
n.1486-809C>A
c.1014G>T (p.Glu338Asp)
c.1116G>T (p.Glu372Asp)
c.1056G>T (p.Glu352Asp)
n.4197-809C>A
c.939G>T (p.Glu313Asp)
c.957G>T (p.Glu319Asp)
c.714G>T (p.Glu238Asp)
c.747G>T (p.Glu249Asp)
c.765G>T (p.Glu255Asp)
2g.127427198T>ACA348402501PROCc.772T>A (p.Ser258Thr)
c.121-1159T>A
c.874T>A (p.Ser292Thr)
c.955T>A (p.Ser319Thr)
c.937T>A (p.Ser313Thr)
c.835T>A (p.Ser279Thr)
n.1486-810A>T
c.1015T>A (p.Ser339Thr)
c.1117T>A (p.Ser373Thr)
c.1057T>A (p.Ser353Thr)
n.4197-810A>T
c.940T>A (p.Ser314Thr)
c.958T>A (p.Ser320Thr)
c.715T>A (p.Ser239Thr)
c.748T>A (p.Ser250Thr)
c.766T>A (p.Ser256Thr)
2g.127427198T>CCA348402502PROCc.772T>C (p.Ser258Pro)
c.121-1159T>C
c.874T>C (p.Ser292Pro)
c.955T>C (p.Ser319Pro)
c.937T>C (p.Ser313Pro)
c.835T>C (p.Ser279Pro)
n.1486-810A>G
c.1015T>C (p.Ser339Pro)
c.1117T>C (p.Ser373Pro)
c.1057T>C (p.Ser353Pro)
n.4197-810A>G
c.940T>C (p.Ser314Pro)
c.958T>C (p.Ser320Pro)
c.715T>C (p.Ser239Pro)
c.748T>C (p.Ser250Pro)
c.766T>C (p.Ser256Pro)
2g.127427198T>GCA348402504PROCc.772T>G (p.Ser258Ala)
c.121-1159T>G
c.874T>G (p.Ser292Ala)
c.955T>G (p.Ser319Ala)
c.937T>G (p.Ser313Ala)
c.835T>G (p.Ser279Ala)
n.1486-810A>C
c.1015T>G (p.Ser339Ala)
c.1117T>G (p.Ser373Ala)
c.1057T>G (p.Ser353Ala)
n.4197-810A>C
c.940T>G (p.Ser314Ala)
c.958T>G (p.Ser320Ala)
c.715T>G (p.Ser239Ala)
c.748T>G (p.Ser250Ala)
c.766T>G (p.Ser256Ala)
2g.127427199C>ACA348402514PROCc.773C>A (p.Ser258Tyr)
c.121-1158C>A
c.875C>A (p.Ser292Tyr)
c.956C>A (p.Ser319Tyr)
c.938C>A (p.Ser313Tyr)
c.836C>A (p.Ser279Tyr)
n.1486-811G>T
c.1016C>A (p.Ser339Tyr)
c.1118C>A (p.Ser373Tyr)
c.1058C>A (p.Ser353Tyr)
n.4197-811G>T
c.941C>A (p.Ser314Tyr)
c.959C>A (p.Ser320Tyr)
c.716C>A (p.Ser239Tyr)
c.749C>A (p.Ser250Tyr)
c.767C>A (p.Ser256Tyr)
 gnomAD v4
2g.127427199C=CA1286883880PROCc.773C= (p.Ser258=)
c.121-1158C=
c.875C= (p.Ser292=)
c.956C= (p.Ser319=)
c.938C= (p.Ser313=)
c.836C= (p.Ser279=)
n.1486-811G=
c.1016C= (p.Ser339=)
c.1118C= (p.Ser373=)
c.1058C= (p.Ser353=)
n.4197-811G=
c.941C= (p.Ser314=)
c.959C= (p.Ser320=)
c.716C= (p.Ser239=)
c.749C= (p.Ser250=)
c.767C= (p.Ser256=)
2g.127427199C>GCA348402511PROCc.773C>G (p.Ser258Cys)
c.121-1158C>G
c.875C>G (p.Ser292Cys)
c.956C>G (p.Ser319Cys)
c.938C>G (p.Ser313Cys)
c.836C>G (p.Ser279Cys)
n.1486-811G>C
c.1016C>G (p.Ser339Cys)
c.1118C>G (p.Ser373Cys)
c.1058C>G (p.Ser353Cys)
n.4197-811G>C
c.941C>G (p.Ser314Cys)
c.959C>G (p.Ser320Cys)
c.716C>G (p.Ser239Cys)
c.749C>G (p.Ser250Cys)
c.767C>G (p.Ser256Cys)
2g.127427199C>TCA348402507PROCc.773C>T (p.Ser258Phe)
c.121-1158C>T
c.875C>T (p.Ser292Phe)
c.956C>T (p.Ser319Phe)
c.938C>T (p.Ser313Phe)
c.836C>T (p.Ser279Phe)
n.1486-811G>A
c.1016C>T (p.Ser339Phe)
c.1118C>T (p.Ser373Phe)
c.1058C>T (p.Ser353Phe)
n.4197-811G>A
c.941C>T (p.Ser314Phe)
c.959C>T (p.Ser320Phe)
c.716C>T (p.Ser239Phe)
c.749C>T (p.Ser250Phe)
c.767C>T (p.Ser256Phe)
 dbSNP gnomAD v4
2g.127427200C>ACA428618659PROCc.774C>A (p.Ser258=)
c.121-1157C>A
c.876C>A (p.Ser292=)
c.957C>A (p.Ser319=)
c.939C>A (p.Ser313=)
c.837C>A (p.Ser279=)
n.1486-812G>T
c.1017C>A (p.Ser339=)
c.1119C>A (p.Ser373=)
c.1059C>A (p.Ser353=)
n.4197-812G>T
c.942C>A (p.Ser314=)
c.960C>A (p.Ser320=)
c.717C>A (p.Ser239=)
c.750C>A (p.Ser250=)
c.768C>A (p.Ser256=)
2g.127427200C>GCA428618661PROCc.774C>G (p.Ser258=)
c.121-1157C>G
c.876C>G (p.Ser292=)
c.957C>G (p.Ser319=)
c.939C>G (p.Ser313=)
c.837C>G (p.Ser279=)
n.1486-812G>C
c.1017C>G (p.Ser339=)
c.1119C>G (p.Ser373=)
c.1059C>G (p.Ser353=)
n.4197-812G>C
c.942C>G (p.Ser314=)
c.960C>G (p.Ser320=)
c.717C>G (p.Ser239=)
c.750C>G (p.Ser250=)
c.768C>G (p.Ser256=)
2g.127427200C>TCA428618662PROCc.774C>T (p.Ser258=)
c.121-1157C>T
c.876C>T (p.Ser292=)
c.957C>T (p.Ser319=)
c.939C>T (p.Ser313=)
c.837C>T (p.Ser279=)
n.1486-812G>A
c.1017C>T (p.Ser339=)
c.1119C>T (p.Ser373=)
c.1059C>T (p.Ser353=)
n.4197-812G>A
c.942C>T (p.Ser314=)
c.960C>T (p.Ser320=)
c.717C>T (p.Ser239=)
c.750C>T (p.Ser250=)
c.768C>T (p.Ser256=)
2g.127427200_127427203delinsCAAGCA1286883881PROCc.774_777delinsCAAG (p.Ser258=)
c.121-1157_121-1154delinsCAAG
c.876_879delinsCAAG (p.Ser292=)
c.957_960delinsCAAG (p.Ser319=)
c.939_942delinsCAAG (p.Ser313=)
c.837_840delinsCAAG (p.Ser279=)
n.1486-815_1486-812delinsCTTG
c.1017_1020delinsCAAG (p.Ser339=)
c.1119_1122delinsCAAG (p.Ser373=)
c.1059_1062delinsCAAG (p.Ser353=)
n.4197-815_4197-812delinsCTTG
c.942_945delinsCAAG (p.Ser314=)
c.960_963delinsCAAG (p.Ser320=)
c.717_720delinsCAAG (p.Ser239=)
c.750_753delinsCAAG (p.Ser250=)
c.768_771delinsCAAG (p.Ser256=)
2g.127427201A=CA1286883883PROCc.775A= (p.Lys259=)
c.121-1156A=
c.877A= (p.Lys293=)
c.958A= (p.Lys320=)
c.940A= (p.Lys314=)
c.838A= (p.Lys280=)
n.1486-813T=
c.1018A= (p.Lys340=)
c.1120A= (p.Lys374=)
c.1060A= (p.Lys354=)
n.4197-813T=
c.943A= (p.Lys315=)
c.961A= (p.Lys321=)
c.718A= (p.Lys240=)
c.751A= (p.Lys251=)
c.769A= (p.Lys257=)
2g.127427201A>CCA348402518PROCc.775A>C (p.Lys259Gln)
c.121-1156A>C
c.877A>C (p.Lys293Gln)
c.958A>C (p.Lys320Gln)
c.940A>C (p.Lys314Gln)
c.838A>C (p.Lys280Gln)
n.1486-813T>G
c.1018A>C (p.Lys340Gln)
c.1120A>C (p.Lys374Gln)
c.1060A>C (p.Lys354Gln)
n.4197-813T>G
c.943A>C (p.Lys315Gln)
c.961A>C (p.Lys321Gln)
c.718A>C (p.Lys240Gln)
c.751A>C (p.Lys251Gln)
c.769A>C (p.Lys257Gln)
2g.127427201A>GCA348402523PROCc.775A>G (p.Lys259Glu)
c.121-1156A>G
c.877A>G (p.Lys293Glu)
c.958A>G (p.Lys320Glu)
c.940A>G (p.Lys314Glu)
c.838A>G (p.Lys280Glu)
n.1486-813T>C
c.1018A>G (p.Lys340Glu)
c.1120A>G (p.Lys374Glu)
c.1060A>G (p.Lys354Glu)
n.4197-813T>C
c.943A>G (p.Lys315Glu)
c.961A>G (p.Lys321Glu)
c.718A>G (p.Lys240Glu)
c.751A>G (p.Lys251Glu)
c.769A>G (p.Lys257Glu)
 dbSNP
2g.127427201A>TCA348402521PROCc.775A>T (p.Lys259Ter)
c.121-1156A>T
c.877A>T (p.Lys293Ter)
c.958A>T (p.Lys320Ter)
c.940A>T (p.Lys314Ter)
c.838A>T (p.Lys280Ter)
n.1486-813T>A
c.1018A>T (p.Lys340Ter)
c.1120A>T (p.Lys374Ter)
c.1060A>T (p.Lys354Ter)
n.4197-813T>A
c.943A>T (p.Lys315Ter)
c.961A>T (p.Lys321Ter)
c.718A>T (p.Lys240Ter)
c.751A>T (p.Lys251Ter)
c.769A>T (p.Lys257Ter)
2g.127427204_127427206delCA1286883882PROCc.778_780del (p.Lys260del)
c.121-1153_121-1151del
c.880_882del (p.Lys294del)
c.961_963del (p.Lys321del)
c.943_945del (p.Lys315del)
c.841_843del (p.Lys281del)
n.1486-815_1486-813del
c.1021_1023del (p.Lys341del)
c.1123_1125del (p.Lys375del)
c.1063_1065del (p.Lys355del)
n.4197-815_4197-813del
c.946_948del (p.Lys316del)
c.964_966del (p.Lys322del)
c.721_723del (p.Lys241del)
c.754_756del (p.Lys252del)
c.772_774del (p.Lys258del)
 dbSNP
2g.127427202A>CCA348402527PROCc.776A>C (p.Lys259Thr)
c.121-1155A>C
c.878A>C (p.Lys293Thr)
c.959A>C (p.Lys320Thr)
c.941A>C (p.Lys314Thr)
c.839A>C (p.Lys280Thr)
n.1486-814T>G
c.1019A>C (p.Lys340Thr)
c.1121A>C (p.Lys374Thr)
c.1061A>C (p.Lys354Thr)
n.4197-814T>G
c.944A>C (p.Lys315Thr)
c.962A>C (p.Lys321Thr)
c.719A>C (p.Lys240Thr)
c.752A>C (p.Lys251Thr)
c.770A>C (p.Lys257Thr)
2g.127427202A>GCA348402531PROCc.776A>G (p.Lys259Arg)
c.121-1155A>G
c.878A>G (p.Lys293Arg)
c.959A>G (p.Lys320Arg)
c.941A>G (p.Lys314Arg)
c.839A>G (p.Lys280Arg)
n.1486-814T>C
c.1019A>G (p.Lys340Arg)
c.1121A>G (p.Lys374Arg)
c.1061A>G (p.Lys354Arg)
n.4197-814T>C
c.944A>G (p.Lys315Arg)
c.962A>G (p.Lys321Arg)
c.719A>G (p.Lys240Arg)
c.752A>G (p.Lys251Arg)
c.770A>G (p.Lys257Arg)
 gnomAD v4
2g.127427202A>TCA348402532PROCc.776A>T (p.Lys259Met)
c.121-1155A>T
c.878A>T (p.Lys293Met)
c.959A>T (p.Lys320Met)
c.941A>T (p.Lys314Met)
c.839A>T (p.Lys280Met)
n.1486-814T>A
c.1019A>T (p.Lys340Met)
c.1121A>T (p.Lys374Met)
c.1061A>T (p.Lys354Met)
n.4197-814T>A
c.944A>T (p.Lys315Met)
c.962A>T (p.Lys321Met)
c.719A>T (p.Lys240Met)
c.752A>T (p.Lys251Met)
c.770A>T (p.Lys257Met)
2g.127427203G>ACA428618667PROCc.777G>A (p.Lys259=)
c.121-1154G>A
c.879G>A (p.Lys293=)
c.960G>A (p.Lys320=)
c.942G>A (p.Lys314=)
c.840G>A (p.Lys280=)
n.1486-815C>T
c.1020G>A (p.Lys340=)
c.1122G>A (p.Lys374=)
c.1062G>A (p.Lys354=)
n.4197-815C>T
c.945G>A (p.Lys315=)
c.963G>A (p.Lys321=)
c.720G>A (p.Lys240=)
c.753G>A (p.Lys251=)
c.771G>A (p.Lys257=)
2g.127427203G>CCA348402533PROCc.777G>C (p.Lys259Asn)
c.121-1154G>C
c.879G>C (p.Lys293Asn)
c.960G>C (p.Lys320Asn)
c.942G>C (p.Lys314Asn)
c.840G>C (p.Lys280Asn)
n.1486-815C>G
c.1020G>C (p.Lys340Asn)
c.1122G>C (p.Lys374Asn)
c.1062G>C (p.Lys354Asn)
n.4197-815C>G
c.945G>C (p.Lys315Asn)
c.963G>C (p.Lys321Asn)
c.720G>C (p.Lys240Asn)
c.753G>C (p.Lys251Asn)
c.771G>C (p.Lys257Asn)
2g.127427203G>TCA348402534PROCc.777G>T (p.Lys259Asn)
c.121-1154G>T
c.879G>T (p.Lys293Asn)
c.960G>T (p.Lys320Asn)
c.942G>T (p.Lys314Asn)
c.840G>T (p.Lys280Asn)
n.1486-815C>A
c.1020G>T (p.Lys340Asn)
c.1122G>T (p.Lys374Asn)
c.1062G>T (p.Lys354Asn)
n.4197-815C>A
c.945G>T (p.Lys315Asn)
c.963G>T (p.Lys321Asn)
c.720G>T (p.Lys240Asn)
c.753G>T (p.Lys251Asn)
c.771G>T (p.Lys257Asn)
 gnomAD v4
2g.127427204A>CCA348402537PROCc.778A>C (p.Lys260Gln)
c.121-1153A>C
c.880A>C (p.Lys294Gln)
c.961A>C (p.Lys321Gln)
c.943A>C (p.Lys315Gln)
c.841A>C (p.Lys281Gln)
n.1486-816T>G
c.1021A>C (p.Lys341Gln)
c.1123A>C (p.Lys375Gln)
c.1063A>C (p.Lys355Gln)
n.4197-816T>G
c.946A>C (p.Lys316Gln)
c.964A>C (p.Lys322Gln)
c.721A>C (p.Lys241Gln)
c.754A>C (p.Lys252Gln)
c.772A>C (p.Lys258Gln)
 gnomAD v4
2g.127427204A>GCA348402540PROCc.778A>G (p.Lys260Glu)
c.121-1153A>G
c.880A>G (p.Lys294Glu)
c.961A>G (p.Lys321Glu)
c.943A>G (p.Lys315Glu)
c.841A>G (p.Lys281Glu)
n.1486-816T>C
c.1021A>G (p.Lys341Glu)
c.1123A>G (p.Lys375Glu)
c.1063A>G (p.Lys355Glu)
n.4197-816T>C
c.946A>G (p.Lys316Glu)
c.964A>G (p.Lys322Glu)
c.721A>G (p.Lys241Glu)
c.754A>G (p.Lys252Glu)
c.772A>G (p.Lys258Glu)
2g.127427204A>TCA348402543PROCc.778A>T (p.Lys260Ter)
c.121-1153A>T
c.880A>T (p.Lys294Ter)
c.961A>T (p.Lys321Ter)
c.943A>T (p.Lys315Ter)
c.841A>T (p.Lys281Ter)
n.1486-816T>A
c.1021A>T (p.Lys341Ter)
c.1123A>T (p.Lys375Ter)
c.1063A>T (p.Lys355Ter)
n.4197-816T>A
c.946A>T (p.Lys316Ter)
c.964A>T (p.Lys322Ter)
c.721A>T (p.Lys241Ter)
c.754A>T (p.Lys252Ter)
c.772A>T (p.Lys258Ter)
2g.127427205A>CCA348402547PROCc.779A>C (p.Lys260Thr)
c.121-1152A>C
c.881A>C (p.Lys294Thr)
c.962A>C (p.Lys321Thr)
c.944A>C (p.Lys315Thr)
c.842A>C (p.Lys281Thr)
n.1486-817T>G
c.1022A>C (p.Lys341Thr)
c.1124A>C (p.Lys375Thr)
c.1064A>C (p.Lys355Thr)
n.4197-817T>G
c.947A>C (p.Lys316Thr)
c.965A>C (p.Lys322Thr)
c.722A>C (p.Lys241Thr)
c.755A>C (p.Lys252Thr)
c.773A>C (p.Lys258Thr)
2g.127427205A>GCA348402549PROCc.779A>G (p.Lys260Arg)
c.121-1152A>G
c.881A>G (p.Lys294Arg)
c.962A>G (p.Lys321Arg)
c.944A>G (p.Lys315Arg)
c.842A>G (p.Lys281Arg)
n.1486-817T>C
c.1022A>G (p.Lys341Arg)
c.1124A>G (p.Lys375Arg)
c.1064A>G (p.Lys355Arg)
n.4197-817T>C
c.947A>G (p.Lys316Arg)
c.965A>G (p.Lys322Arg)
c.722A>G (p.Lys241Arg)
c.755A>G (p.Lys252Arg)
c.773A>G (p.Lys258Arg)
 gnomAD v4
2g.127427205A>TCA348402554PROCc.779A>T (p.Lys260Met)
c.121-1152A>T
c.881A>T (p.Lys294Met)
c.962A>T (p.Lys321Met)
c.944A>T (p.Lys315Met)
c.842A>T (p.Lys281Met)
n.1486-817T>A
c.1022A>T (p.Lys341Met)
c.1124A>T (p.Lys375Met)
c.1064A>T (p.Lys355Met)
n.4197-817T>A
c.947A>T (p.Lys316Met)
c.965A>T (p.Lys322Met)
c.722A>T (p.Lys241Met)
c.755A>T (p.Lys252Met)
c.773A>T (p.Lys258Met)
2g.127427206G>ACA428618668PROCc.780G>A (p.Lys260=)
c.121-1151G>A
c.882G>A (p.Lys294=)
c.963G>A (p.Lys321=)
c.945G>A (p.Lys315=)
c.843G>A (p.Lys281=)
n.1486-818C>T
c.1023G>A (p.Lys341=)
c.1125G>A (p.Lys375=)
c.1065G>A (p.Lys355=)
n.4197-818C>T
c.948G>A (p.Lys316=)
c.966G>A (p.Lys322=)
c.723G>A (p.Lys241=)
c.756G>A (p.Lys252=)
c.774G>A (p.Lys258=)
 ClinVar dbSNP gnomAD v4
2g.127427206G>CCA348402571PROCc.780G>C (p.Lys260Asn)
c.121-1151G>C
c.882G>C (p.Lys294Asn)
c.963G>C (p.Lys321Asn)
c.945G>C (p.Lys315Asn)
c.843G>C (p.Lys281Asn)
n.1486-818C>G
c.1023G>C (p.Lys341Asn)
c.1125G>C (p.Lys375Asn)
c.1065G>C (p.Lys355Asn)
n.4197-818C>G
c.948G>C (p.Lys316Asn)
c.966G>C (p.Lys322Asn)
c.723G>C (p.Lys241Asn)
c.756G>C (p.Lys252Asn)
c.774G>C (p.Lys258Asn)
2g.127427206G=CA1286883884PROCc.780G= (p.Lys260=)
c.121-1151G=
c.882G= (p.Lys294=)
c.963G= (p.Lys321=)
c.945G= (p.Lys315=)
c.843G= (p.Lys281=)
n.1486-818C=
c.1023G= (p.Lys341=)
c.1125G= (p.Lys375=)
c.1065G= (p.Lys355=)
n.4197-818C=
c.948G= (p.Lys316=)
c.966G= (p.Lys322=)
c.723G= (p.Lys241=)
c.756G= (p.Lys252=)
c.774G= (p.Lys258=)
2g.127427206G>TCA348402564PROCc.780G>T (p.Lys260Asn)
c.121-1151G>T
c.882G>T (p.Lys294Asn)
c.963G>T (p.Lys321Asn)
c.945G>T (p.Lys315Asn)
c.843G>T (p.Lys281Asn)
n.1486-818C>A
c.1023G>T (p.Lys341Asn)
c.1125G>T (p.Lys375Asn)
c.1065G>T (p.Lys355Asn)
n.4197-818C>A
c.948G>T (p.Lys316Asn)
c.966G>T (p.Lys322Asn)
c.723G>T (p.Lys241Asn)
c.756G>T (p.Lys252Asn)
c.774G>T (p.Lys258Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127427207C>ACA348402574PROCc.781C>A (p.Leu261Ile)
c.121-1150C>A
c.883C>A (p.Leu295Ile)
c.964C>A (p.Leu322Ile)
c.946C>A (p.Leu316Ile)
c.844C>A (p.Leu282Ile)
n.1486-819G>T
c.1024C>A (p.Leu342Ile)
c.1126C>A (p.Leu376Ile)
c.1066C>A (p.Leu356Ile)
n.4197-819G>T
c.949C>A (p.Leu317Ile)
c.967C>A (p.Leu323Ile)
c.724C>A (p.Leu242Ile)
c.757C>A (p.Leu253Ile)
c.775C>A (p.Leu259Ile)
 gnomAD v4
2g.127427207C=CA1286883885PROCc.781C= (p.Leu261=)
c.121-1150C=
c.883C= (p.Leu295=)
c.964C= (p.Leu322=)
c.946C= (p.Leu316=)
c.844C= (p.Leu282=)
n.1486-819G=
c.1024C= (p.Leu342=)
c.1126C= (p.Leu376=)
c.1066C= (p.Leu356=)
n.4197-819G=
c.949C= (p.Leu317=)
c.967C= (p.Leu323=)
c.724C= (p.Leu242=)
c.757C= (p.Leu253=)
c.775C= (p.Leu259=)
2g.127427207C>GCA348402575PROCc.781C>G (p.Leu261Val)
c.121-1150C>G
c.883C>G (p.Leu295Val)
c.964C>G (p.Leu322Val)
c.946C>G (p.Leu316Val)
c.844C>G (p.Leu282Val)
n.1486-819G>C
c.1024C>G (p.Leu342Val)
c.1126C>G (p.Leu376Val)
c.1066C>G (p.Leu356Val)
n.4197-819G>C
c.949C>G (p.Leu317Val)
c.967C>G (p.Leu323Val)
c.724C>G (p.Leu242Val)
c.757C>G (p.Leu253Val)
c.775C>G (p.Leu259Val)
2g.127427207C>TCA55349401PROCc.781C>T (p.Leu261Phe)
c.121-1150C>T
c.883C>T (p.Leu295Phe)
c.964C>T (p.Leu322Phe)
c.946C>T (p.Leu316Phe)
c.844C>T (p.Leu282Phe)
n.1486-819G>A
c.1024C>T (p.Leu342Phe)
c.1126C>T (p.Leu376Phe)
c.1066C>T (p.Leu356Phe)
n.4197-819G>A
c.949C>T (p.Leu317Phe)
c.967C>T (p.Leu323Phe)
c.724C>T (p.Leu242Phe)
c.757C>T (p.Leu253Phe)
c.775C>T (p.Leu259Phe)
 dbSNP gnomAD v4
2g.127427208T>ACA348402585PROCc.782T>A (p.Leu261His)
c.121-1149T>A
c.884T>A (p.Leu295His)
c.965T>A (p.Leu322His)
c.947T>A (p.Leu316His)
c.845T>A (p.Leu282His)
n.1486-820A>T
c.1025T>A (p.Leu342His)
c.1127T>A (p.Leu376His)
c.1067T>A (p.Leu356His)
n.4197-820A>T
c.950T>A (p.Leu317His)
c.968T>A (p.Leu323His)
c.725T>A (p.Leu242His)
c.758T>A (p.Leu253His)
c.776T>A (p.Leu259His)
2g.127427208T>CCA348402588PROCc.782T>C (p.Leu261Pro)
c.121-1149T>C
c.884T>C (p.Leu295Pro)
c.965T>C (p.Leu322Pro)
c.947T>C (p.Leu316Pro)
c.845T>C (p.Leu282Pro)
n.1486-820A>G
c.1025T>C (p.Leu342Pro)
c.1127T>C (p.Leu376Pro)
c.1067T>C (p.Leu356Pro)
n.4197-820A>G
c.950T>C (p.Leu317Pro)
c.968T>C (p.Leu323Pro)
c.725T>C (p.Leu242Pro)
c.758T>C (p.Leu253Pro)
c.776T>C (p.Leu259Pro)
2g.127427208T>GCA348402590PROCc.782T>G (p.Leu261Arg)
c.121-1149T>G
c.884T>G (p.Leu295Arg)
c.965T>G (p.Leu322Arg)
c.947T>G (p.Leu316Arg)
c.845T>G (p.Leu282Arg)
n.1486-820A>C
c.1025T>G (p.Leu342Arg)
c.1127T>G (p.Leu376Arg)
c.1067T>G (p.Leu356Arg)
n.4197-820A>C
c.950T>G (p.Leu317Arg)
c.968T>G (p.Leu323Arg)
c.725T>G (p.Leu242Arg)
c.758T>G (p.Leu253Arg)
c.776T>G (p.Leu259Arg)
2g.127427209C>ACA428618672PROCc.783C>A (p.Leu261=)
c.121-1148C>A
c.885C>A (p.Leu295=)
c.966C>A (p.Leu322=)
c.948C>A (p.Leu316=)
c.846C>A (p.Leu282=)
n.1486-821G>T
c.1026C>A (p.Leu342=)
c.1128C>A (p.Leu376=)
c.1068C>A (p.Leu356=)
n.4197-821G>T
c.951C>A (p.Leu317=)
c.969C>A (p.Leu323=)
c.726C>A (p.Leu242=)
c.759C>A (p.Leu253=)
c.777C>A (p.Leu259=)
2g.127427209C>GCA428618671PROCc.783C>G (p.Leu261=)
c.121-1148C>G
c.885C>G (p.Leu295=)
c.966C>G (p.Leu322=)
c.948C>G (p.Leu316=)
c.846C>G (p.Leu282=)
n.1486-821G>C
c.1026C>G (p.Leu342=)
c.1128C>G (p.Leu376=)
c.1068C>G (p.Leu356=)
n.4197-821G>C
c.951C>G (p.Leu317=)
c.969C>G (p.Leu323=)
c.726C>G (p.Leu242=)
c.759C>G (p.Leu253=)
c.777C>G (p.Leu259=)
2g.127427209C>TCA428618670PROCc.783C>T (p.Leu261=)
c.121-1148C>T
c.885C>T (p.Leu295=)
c.966C>T (p.Leu322=)
c.948C>T (p.Leu316=)
c.846C>T (p.Leu282=)
n.1486-821G>A
c.1026C>T (p.Leu342=)
c.1128C>T (p.Leu376=)
c.1068C>T (p.Leu356=)
n.4197-821G>A
c.951C>T (p.Leu317=)
c.969C>T (p.Leu323=)
c.726C>T (p.Leu242=)
c.759C>T (p.Leu253=)
c.777C>T (p.Leu259=)
2g.127427210C>ACA348402600PROCc.784C>A (p.Leu262Ile)
c.121-1147C>A
c.886C>A (p.Leu296Ile)
c.967C>A (p.Leu323Ile)
c.949C>A (p.Leu317Ile)
c.847C>A (p.Leu283Ile)
n.1486-822G>T
c.1027C>A (p.Leu343Ile)
c.1129C>A (p.Leu377Ile)
c.1069C>A (p.Leu357Ile)
n.4197-822G>T
c.952C>A (p.Leu318Ile)
c.970C>A (p.Leu324Ile)
c.727C>A (p.Leu243Ile)
c.760C>A (p.Leu254Ile)
c.778C>A (p.Leu260Ile)
2g.127427210C>GCA348402603PROCc.784C>G (p.Leu262Val)
c.121-1147C>G
c.886C>G (p.Leu296Val)
c.967C>G (p.Leu323Val)
c.949C>G (p.Leu317Val)
c.847C>G (p.Leu283Val)
n.1486-822G>C
c.1027C>G (p.Leu343Val)
c.1129C>G (p.Leu377Val)
c.1069C>G (p.Leu357Val)
n.4197-822G>C
c.952C>G (p.Leu318Val)
c.970C>G (p.Leu324Val)
c.727C>G (p.Leu243Val)
c.760C>G (p.Leu254Val)
c.778C>G (p.Leu260Val)
2g.127427210C>TCA348402606PROCc.784C>T (p.Leu262Phe)
c.121-1147C>T
c.886C>T (p.Leu296Phe)
c.967C>T (p.Leu323Phe)
c.949C>T (p.Leu317Phe)
c.847C>T (p.Leu283Phe)
n.1486-822G>A
c.1027C>T (p.Leu343Phe)
c.1129C>T (p.Leu377Phe)
c.1069C>T (p.Leu357Phe)
n.4197-822G>A
c.952C>T (p.Leu318Phe)
c.970C>T (p.Leu324Phe)
c.727C>T (p.Leu243Phe)
c.760C>T (p.Leu254Phe)
c.778C>T (p.Leu260Phe)
 gnomAD v4
2g.127427211T>ACA348402611PROCc.785T>A (p.Leu262His)
c.121-1146T>A
c.887T>A (p.Leu296His)
c.968T>A (p.Leu323His)
c.950T>A (p.Leu317His)
c.848T>A (p.Leu283His)
n.1486-823A>T
c.1028T>A (p.Leu343His)
c.1130T>A (p.Leu377His)
c.1070T>A (p.Leu357His)
n.4197-823A>T
c.953T>A (p.Leu318His)
c.971T>A (p.Leu324His)
c.728T>A (p.Leu243His)
c.761T>A (p.Leu254His)
c.779T>A (p.Leu260His)
2g.127427211T>CCA348402612PROCc.785T>C (p.Leu262Pro)
c.121-1146T>C
c.887T>C (p.Leu296Pro)
c.968T>C (p.Leu323Pro)
c.950T>C (p.Leu317Pro)
c.848T>C (p.Leu283Pro)
n.1486-823A>G
c.1028T>C (p.Leu343Pro)
c.1130T>C (p.Leu377Pro)
c.1070T>C (p.Leu357Pro)
n.4197-823A>G
c.953T>C (p.Leu318Pro)
c.971T>C (p.Leu324Pro)
c.728T>C (p.Leu243Pro)
c.761T>C (p.Leu254Pro)
c.779T>C (p.Leu260Pro)
 ClinVar dbSNP
2g.127427211T>GCA348402613PROCc.785T>G (p.Leu262Arg)
c.121-1146T>G
c.887T>G (p.Leu296Arg)
c.968T>G (p.Leu323Arg)
c.950T>G (p.Leu317Arg)
c.848T>G (p.Leu283Arg)
n.1486-823A>C
c.1028T>G (p.Leu343Arg)
c.1130T>G (p.Leu377Arg)
c.1070T>G (p.Leu357Arg)
n.4197-823A>C
c.953T>G (p.Leu318Arg)
c.971T>G (p.Leu324Arg)
c.728T>G (p.Leu243Arg)
c.761T>G (p.Leu254Arg)
c.779T>G (p.Leu260Arg)
2g.127427211T=CA1286883886PROCc.785T= (p.Leu262=)
c.121-1146T=
c.887T= (p.Leu296=)
c.968T= (p.Leu323=)
c.950T= (p.Leu317=)
c.848T= (p.Leu283=)
n.1486-823A=
c.1028T= (p.Leu343=)
c.1130T= (p.Leu377=)
c.1070T= (p.Leu357=)
n.4197-823A=
c.953T= (p.Leu318=)
c.971T= (p.Leu324=)
c.728T= (p.Leu243=)
c.761T= (p.Leu254=)
c.779T= (p.Leu260=)
2g.127427212dupCA2586969902PROCc.786dup (p.Val263CysfsTer7)
c.121-1145dup
c.888dup (p.Val297CysfsTer7)
c.969dup (p.Val324CysfsTer7)
c.951dup (p.Val318CysfsTer7)
c.849dup (p.Val284CysfsTer7)
n.1486-823dup
c.1029dup (p.Val344CysfsTer7)
c.1131dup (p.Val378CysfsTer7)
c.1071dup (p.Val358CysfsTer7)
n.4197-823dup
c.954dup (p.Val319CysfsTer7)
c.972dup (p.Val325CysfsTer7)
c.729dup (p.Val244CysfsTer7)
c.762dup (p.Val255CysfsTer7)
c.780dup (p.Val261CysfsTer7)
2g.127427212T>ACA428618674PROCc.786T>A (p.Leu262=)
c.121-1145T>A
c.888T>A (p.Leu296=)
c.969T>A (p.Leu323=)
c.951T>A (p.Leu317=)
c.849T>A (p.Leu283=)
n.1486-824A>T
c.1029T>A (p.Leu343=)
c.1131T>A (p.Leu377=)
c.1071T>A (p.Leu357=)
n.4197-824A>T
c.954T>A (p.Leu318=)
c.972T>A (p.Leu324=)
c.729T>A (p.Leu243=)
c.762T>A (p.Leu254=)
c.780T>A (p.Leu260=)
2g.127427212T>CCA428618676PROCc.786T>C (p.Leu262=)
c.121-1145T>C
c.888T>C (p.Leu296=)
c.969T>C (p.Leu323=)
c.951T>C (p.Leu317=)
c.849T>C (p.Leu283=)
n.1486-824A>G
c.1029T>C (p.Leu343=)
c.1131T>C (p.Leu377=)
c.1071T>C (p.Leu357=)
n.4197-824A>G
c.954T>C (p.Leu318=)
c.972T>C (p.Leu324=)
c.729T>C (p.Leu243=)
c.762T>C (p.Leu254=)
c.780T>C (p.Leu260=)
2g.127427212T>GCA428618677PROCc.786T>G (p.Leu262=)
c.121-1145T>G
c.888T>G (p.Leu296=)
c.969T>G (p.Leu323=)
c.951T>G (p.Leu317=)
c.849T>G (p.Leu283=)
n.1486-824A>C
c.1029T>G (p.Leu343=)
c.1131T>G (p.Leu377=)
c.1071T>G (p.Leu357=)
n.4197-824A>C
c.954T>G (p.Leu318=)
c.972T>G (p.Leu324=)
c.729T>G (p.Leu243=)
c.762T>G (p.Leu254=)
c.780T>G (p.Leu260=)
2g.127427213G>ACA348402618PROCc.787G>A (p.Val263Ile)
c.121-1144G>A
c.889G>A (p.Val297Ile)
c.970G>A (p.Val324Ile)
c.952G>A (p.Val318Ile)
c.850G>A (p.Val284Ile)
n.1486-825C>T
c.1030G>A (p.Val344Ile)
c.1132G>A (p.Val378Ile)
c.1072G>A (p.Val358Ile)
n.4197-825C>T
c.955G>A (p.Val319Ile)
c.973G>A (p.Val325Ile)
c.730G>A (p.Val244Ile)
c.763G>A (p.Val255Ile)
c.781G>A (p.Val261Ile)
 gnomAD v4
2g.127427213G>CCA348402621PROCc.787G>C (p.Val263Leu)
c.121-1144G>C
c.889G>C (p.Val297Leu)
c.970G>C (p.Val324Leu)
c.952G>C (p.Val318Leu)
c.850G>C (p.Val284Leu)
n.1486-825C>G
c.1030G>C (p.Val344Leu)
c.1132G>C (p.Val378Leu)
c.1072G>C (p.Val358Leu)
n.4197-825C>G
c.955G>C (p.Val319Leu)
c.973G>C (p.Val325Leu)
c.730G>C (p.Val244Leu)
c.763G>C (p.Val255Leu)
c.781G>C (p.Val261Leu)
2g.127427213G>TCA348402615PROCc.787G>T (p.Val263Phe)
c.121-1144G>T
c.889G>T (p.Val297Phe)
c.970G>T (p.Val324Phe)
c.952G>T (p.Val318Phe)
c.850G>T (p.Val284Phe)
n.1486-825C>A
c.1030G>T (p.Val344Phe)
c.1132G>T (p.Val378Phe)
c.1072G>T (p.Val358Phe)
n.4197-825C>A
c.955G>T (p.Val319Phe)
c.973G>T (p.Val325Phe)
c.730G>T (p.Val244Phe)
c.763G>T (p.Val255Phe)
c.781G>T (p.Val261Phe)
2g.127427213_127427214delinsTCCA658760374PROCc.787_788delinsTC (p.Val263Ser)
c.121-1144_121-1143delinsTC
c.889_890delinsTC (p.Val297Ser)
c.970_971delinsTC (p.Val324Ser)
c.952_953delinsTC (p.Val318Ser)
c.850_851delinsTC (p.Val284Ser)
n.1486-826_1486-825delinsGA
c.1030_1031delinsTC (p.Val344Ser)
c.1132_1133delinsTC (p.Val378Ser)
c.1072_1073delinsTC (p.Val358Ser)
n.4197-826_4197-825delinsGA
c.955_956delinsTC (p.Val319Ser)
c.973_974delinsTC (p.Val325Ser)
c.730_731delinsTC (p.Val244Ser)
c.763_764delinsTC (p.Val255Ser)
c.781_782delinsTC (p.Val261Ser)
2g.127427214T>ACA348402625PROCc.788T>A (p.Val263Asp)
c.121-1143T>A
c.890T>A (p.Val297Asp)
c.971T>A (p.Val324Asp)
c.953T>A (p.Val318Asp)
c.851T>A (p.Val284Asp)
n.1486-826A>T
c.1031T>A (p.Val344Asp)
c.1133T>A (p.Val378Asp)
c.1073T>A (p.Val358Asp)
n.4197-826A>T
c.956T>A (p.Val319Asp)
c.974T>A (p.Val325Asp)
c.731T>A (p.Val244Asp)
c.764T>A (p.Val255Asp)
c.782T>A (p.Val261Asp)
2g.127427214T>CCA348402628PROCc.788T>C (p.Val263Ala)
c.121-1143T>C
c.890T>C (p.Val297Ala)
c.971T>C (p.Val324Ala)
c.953T>C (p.Val318Ala)
c.851T>C (p.Val284Ala)
n.1486-826A>G
c.1031T>C (p.Val344Ala)
c.1133T>C (p.Val378Ala)
c.1073T>C (p.Val358Ala)
n.4197-826A>G
c.956T>C (p.Val319Ala)
c.974T>C (p.Val325Ala)
c.731T>C (p.Val244Ala)
c.764T>C (p.Val255Ala)
c.782T>C (p.Val261Ala)
2g.127427214T>GCA348402631PROCc.788T>G (p.Val263Gly)
c.121-1143T>G
c.890T>G (p.Val297Gly)
c.971T>G (p.Val324Gly)
c.953T>G (p.Val318Gly)
c.851T>G (p.Val284Gly)
n.1486-826A>C
c.1031T>G (p.Val344Gly)
c.1133T>G (p.Val378Gly)
c.1073T>G (p.Val358Gly)
n.4197-826A>C
c.956T>G (p.Val319Gly)
c.974T>G (p.Val325Gly)
c.731T>G (p.Val244Gly)
c.764T>G (p.Val255Gly)
c.782T>G (p.Val261Gly)
2g.127427215delCA2660997554PROCc.789del (p.Arg264GlyfsTer?)
c.121-1142del
c.891del (p.Arg298GlyfsTer?)
c.972del (p.Arg325GlyfsTer?)
c.954del (p.Arg319GlyfsTer?)
c.852del (p.Arg285GlyfsTer?)
n.1486-827del
c.1032del (p.Arg345GlyfsTer?)
c.1134del (p.Arg379GlyfsTer?)
c.1074del (p.Arg359GlyfsTer?)
n.4197-827del
c.957del (p.Arg320GlyfsTer?)
c.975del (p.Arg326GlyfsTer?)
c.732del (p.Arg245GlyfsTer?)
c.765del (p.Arg256GlyfsTer?)
c.783del (p.Arg262GlyfsTer?)
 gnomAD v4
2g.127427215C>ACA428618682PROCc.789C>A (p.Val263=)
c.121-1142C>A
c.891C>A (p.Val297=)
c.972C>A (p.Val324=)
c.954C>A (p.Val318=)
c.852C>A (p.Val284=)
n.1486-827G>T
c.1032C>A (p.Val344=)
c.1134C>A (p.Val378=)
c.1074C>A (p.Val358=)
n.4197-827G>T
c.957C>A (p.Val319=)
c.975C>A (p.Val325=)
c.732C>A (p.Val244=)
c.765C>A (p.Val255=)
c.783C>A (p.Val261=)
2g.127427215C=CA1286883887PROCc.789C= (p.Val263=)
c.121-1142C=
c.891C= (p.Val297=)
c.972C= (p.Val324=)
c.954C= (p.Val318=)
c.852C= (p.Val284=)
n.1486-827G=
c.1032C= (p.Val344=)
c.1134C= (p.Val378=)
c.1074C= (p.Val358=)
n.4197-827G=
c.957C= (p.Val319=)
c.975C= (p.Val325=)
c.732C= (p.Val244=)
c.765C= (p.Val255=)
c.783C= (p.Val261=)
2g.127427215C>GCA428618685PROCc.789C>G (p.Val263=)
c.121-1142C>G
c.891C>G (p.Val297=)
c.972C>G (p.Val324=)
c.954C>G (p.Val318=)
c.852C>G (p.Val284=)
n.1486-827G>C
c.1032C>G (p.Val344=)
c.1134C>G (p.Val378=)
c.1074C>G (p.Val358=)
n.4197-827G>C
c.957C>G (p.Val319=)
c.975C>G (p.Val325=)
c.732C>G (p.Val244=)
c.765C>G (p.Val255=)
c.783C>G (p.Val261=)
2g.127427215C>TCA428618684PROCc.789C>T (p.Val263=)
c.121-1142C>T
c.891C>T (p.Val297=)
c.972C>T (p.Val324=)
c.954C>T (p.Val318=)
c.852C>T (p.Val284=)
n.1486-827G>A
c.1032C>T (p.Val344=)
c.1134C>T (p.Val378=)
c.1074C>T (p.Val358=)
n.4197-827G>A
c.957C>T (p.Val319=)
c.975C>T (p.Val325=)
c.732C>T (p.Val244=)
c.765C>T (p.Val255=)
c.783C>T (p.Val261=)
 dbSNP gnomAD v4
2g.127427216A>CCA428618686PROCc.790A>C (p.Arg264=)
c.121-1141A>C
c.892A>C (p.Arg298=)
c.973A>C (p.Arg325=)
c.955A>C (p.Arg319=)
c.853A>C (p.Arg285=)
n.1486-828T>G
c.1033A>C (p.Arg345=)
c.1135A>C (p.Arg379=)
c.1075A>C (p.Arg359=)
n.4197-828T>G
c.958A>C (p.Arg320=)
c.976A>C (p.Arg326=)
c.733A>C (p.Arg245=)
c.766A>C (p.Arg256=)
c.784A>C (p.Arg262=)
2g.127427216A>GCA348402636PROCc.790A>G (p.Arg264Gly)
c.121-1141A>G
c.892A>G (p.Arg298Gly)
c.973A>G (p.Arg325Gly)
c.955A>G (p.Arg319Gly)
c.853A>G (p.Arg285Gly)
n.1486-828T>C
c.1033A>G (p.Arg345Gly)
c.1135A>G (p.Arg379Gly)
c.1075A>G (p.Arg359Gly)
n.4197-828T>C
c.958A>G (p.Arg320Gly)
c.976A>G (p.Arg326Gly)
c.733A>G (p.Arg245Gly)
c.766A>G (p.Arg256Gly)
c.784A>G (p.Arg262Gly)
 ClinVar
2g.127427216A>TCA348402640PROCc.790A>T (p.Arg264Trp)
c.121-1141A>T
c.892A>T (p.Arg298Trp)
c.973A>T (p.Arg325Trp)
c.955A>T (p.Arg319Trp)
c.853A>T (p.Arg285Trp)
n.1486-828T>A
c.1033A>T (p.Arg345Trp)
c.1135A>T (p.Arg379Trp)
c.1075A>T (p.Arg359Trp)
n.4197-828T>A
c.958A>T (p.Arg320Trp)
c.976A>T (p.Arg326Trp)
c.733A>T (p.Arg245Trp)
c.766A>T (p.Arg256Trp)
c.784A>T (p.Arg262Trp)
2g.127427217G>ACA348402643PROCc.791G>A (p.Arg264Lys)
c.121-1140G>A
c.893G>A (p.Arg298Lys)
c.974G>A (p.Arg325Lys)
c.956G>A (p.Arg319Lys)
c.854G>A (p.Arg285Lys)
n.1486-829C>T
c.1034G>A (p.Arg345Lys)
c.1136G>A (p.Arg379Lys)
c.1076G>A (p.Arg359Lys)
n.4197-829C>T
c.959G>A (p.Arg320Lys)
c.977G>A (p.Arg326Lys)
c.734G>A (p.Arg245Lys)
c.767G>A (p.Arg256Lys)
c.785G>A (p.Arg262Lys)
2g.127427217G>CCA348402645PROCc.791G>C (p.Arg264Thr)
c.121-1140G>C
c.893G>C (p.Arg298Thr)
c.974G>C (p.Arg325Thr)
c.956G>C (p.Arg319Thr)
c.854G>C (p.Arg285Thr)
n.1486-829C>G
c.1034G>C (p.Arg345Thr)
c.1136G>C (p.Arg379Thr)
c.1076G>C (p.Arg359Thr)
n.4197-829C>G
c.959G>C (p.Arg320Thr)
c.977G>C (p.Arg326Thr)
c.734G>C (p.Arg245Thr)
c.767G>C (p.Arg256Thr)
c.785G>C (p.Arg262Thr)
2g.127427217G>TCA348402647PROCc.791G>T (p.Arg264Met)
c.121-1140G>T
c.893G>T (p.Arg298Met)
c.974G>T (p.Arg325Met)
c.956G>T (p.Arg319Met)
c.854G>T (p.Arg285Met)
n.1486-829C>A
c.1034G>T (p.Arg345Met)
c.1136G>T (p.Arg379Met)
c.1076G>T (p.Arg359Met)
n.4197-829C>A
c.959G>T (p.Arg320Met)
c.977G>T (p.Arg326Met)
c.734G>T (p.Arg245Met)
c.767G>T (p.Arg256Met)
c.785G>T (p.Arg262Met)
2g.127427218G>ACA428618688PROCc.792G>A (p.Arg264=)
c.121-1139G>A
c.894G>A (p.Arg298=)
c.975G>A (p.Arg325=)
c.957G>A (p.Arg319=)
c.855G>A (p.Arg285=)
n.1486-830C>T
c.1035G>A (p.Arg345=)
c.1137G>A (p.Arg379=)
c.1077G>A (p.Arg359=)
n.4197-830C>T
c.960G>A (p.Arg320=)
c.978G>A (p.Arg326=)
c.735G>A (p.Arg245=)
c.768G>A (p.Arg256=)
c.786G>A (p.Arg262=)
2g.127427218G>CCA348402649PROCc.792G>C (p.Arg264Ser)
c.121-1139G>C
c.894G>C (p.Arg298Ser)
c.975G>C (p.Arg325Ser)
c.957G>C (p.Arg319Ser)
c.855G>C (p.Arg285Ser)
n.1486-830C>G
c.1035G>C (p.Arg345Ser)
c.1137G>C (p.Arg379Ser)
c.1077G>C (p.Arg359Ser)
n.4197-830C>G
c.960G>C (p.Arg320Ser)
c.978G>C (p.Arg326Ser)
c.735G>C (p.Arg245Ser)
c.768G>C (p.Arg256Ser)
c.786G>C (p.Arg262Ser)
2g.127427218G>TCA348402652PROCc.792G>T (p.Arg264Ser)
c.121-1139G>T
c.894G>T (p.Arg298Ser)
c.975G>T (p.Arg325Ser)
c.957G>T (p.Arg319Ser)
c.855G>T (p.Arg285Ser)
n.1486-830C>A
c.1035G>T (p.Arg345Ser)
c.1137G>T (p.Arg379Ser)
c.1077G>T (p.Arg359Ser)
n.4197-830C>A
c.960G>T (p.Arg320Ser)
c.978G>T (p.Arg326Ser)
c.735G>T (p.Arg245Ser)
c.768G>T (p.Arg256Ser)
c.786G>T (p.Arg262Ser)
2g.127427219C>ACA348402657PROCc.793C>A (p.Leu265Ile)
c.121-1138C>A
c.895C>A (p.Leu299Ile)
c.976C>A (p.Leu326Ile)
c.958C>A (p.Leu320Ile)
c.856C>A (p.Leu286Ile)
n.1486-831G>T
c.1036C>A (p.Leu346Ile)
c.1138C>A (p.Leu380Ile)
c.1078C>A (p.Leu360Ile)
n.4197-831G>T
c.961C>A (p.Leu321Ile)
c.979C>A (p.Leu327Ile)
c.736C>A (p.Leu246Ile)
c.769C>A (p.Leu257Ile)
c.787C>A (p.Leu263Ile)
2g.127427219C=CA1286883888PROCc.793C= (p.Leu265=)
c.121-1138C=
c.895C= (p.Leu299=)
c.976C= (p.Leu326=)
c.958C= (p.Leu320=)
c.856C= (p.Leu286=)
n.1486-831G=
c.1036C= (p.Leu346=)
c.1138C= (p.Leu380=)
c.1078C= (p.Leu360=)
n.4197-831G=
c.961C= (p.Leu321=)
c.979C= (p.Leu327=)
c.736C= (p.Leu246=)
c.769C= (p.Leu257=)
c.787C= (p.Leu263=)
2g.127427219C>GCA348402659PROCc.793C>G (p.Leu265Val)
c.121-1138C>G
c.895C>G (p.Leu299Val)
c.976C>G (p.Leu326Val)
c.958C>G (p.Leu320Val)
c.856C>G (p.Leu286Val)
n.1486-831G>C
c.1036C>G (p.Leu346Val)
c.1138C>G (p.Leu380Val)
c.1078C>G (p.Leu360Val)
n.4197-831G>C
c.961C>G (p.Leu321Val)
c.979C>G (p.Leu327Val)
c.736C>G (p.Leu246Val)
c.769C>G (p.Leu257Val)
c.787C>G (p.Leu263Val)
2g.127427219C>TCA114419PROCc.793C>T (p.Leu265Phe)
c.121-1138C>T
c.895C>T (p.Leu299Phe)
c.976C>T (p.Leu326Phe)
c.958C>T (p.Leu320Phe)
c.856C>T (p.Leu286Phe)
n.1486-831G>A
c.1036C>T (p.Leu346Phe)
c.1138C>T (p.Leu380Phe)
c.1078C>T (p.Leu360Phe)
n.4197-831G>A
c.961C>T (p.Leu321Phe)
c.979C>T (p.Leu327Phe)
c.736C>T (p.Leu246Phe)
c.769C>T (p.Leu257Phe)
c.787C>T (p.Leu263Phe)
 ClinVar dbSNP gnomAD v4
2g.127427220T>ACA348402692PROCc.794T>A (p.Leu265His)
c.121-1137T>A
c.896T>A (p.Leu299His)
c.977T>A (p.Leu326His)
c.959T>A (p.Leu320His)
c.857T>A (p.Leu286His)
n.1486-832A>T
c.1037T>A (p.Leu346His)
c.1139T>A (p.Leu380His)
c.1079T>A (p.Leu360His)
n.4197-832A>T
c.962T>A (p.Leu321His)
c.980T>A (p.Leu327His)
c.737T>A (p.Leu246His)
c.770T>A (p.Leu257His)
c.788T>A (p.Leu263His)
2g.127427220T>CCA348402690PROCc.794T>C (p.Leu265Pro)
c.121-1137T>C
c.896T>C (p.Leu299Pro)
c.977T>C (p.Leu326Pro)
c.959T>C (p.Leu320Pro)
c.857T>C (p.Leu286Pro)
n.1486-832A>G
c.1037T>C (p.Leu346Pro)
c.1139T>C (p.Leu380Pro)
c.1079T>C (p.Leu360Pro)
n.4197-832A>G
c.962T>C (p.Leu321Pro)
c.980T>C (p.Leu327Pro)
c.737T>C (p.Leu246Pro)
c.770T>C (p.Leu257Pro)
c.788T>C (p.Leu263Pro)
2g.127427220T>GCA348402677PROCc.794T>G (p.Leu265Arg)
c.121-1137T>G
c.896T>G (p.Leu299Arg)
c.977T>G (p.Leu326Arg)
c.959T>G (p.Leu320Arg)
c.857T>G (p.Leu286Arg)
n.1486-832A>C
c.1037T>G (p.Leu346Arg)
c.1139T>G (p.Leu380Arg)
c.1079T>G (p.Leu360Arg)
n.4197-832A>C
c.962T>G (p.Leu321Arg)
c.980T>G (p.Leu327Arg)
c.737T>G (p.Leu246Arg)
c.770T>G (p.Leu257Arg)
c.788T>G (p.Leu263Arg)
2g.127427221T>ACA428618693PROCc.795T>A (p.Leu265=)
c.121-1136T>A
c.897T>A (p.Leu299=)
c.978T>A (p.Leu326=)
c.960T>A (p.Leu320=)
c.858T>A (p.Leu286=)
n.1486-833A>T
c.1038T>A (p.Leu346=)
c.1140T>A (p.Leu380=)
c.1080T>A (p.Leu360=)
n.4197-833A>T
c.963T>A (p.Leu321=)
c.981T>A (p.Leu327=)
c.738T>A (p.Leu246=)
c.771T>A (p.Leu257=)
c.789T>A (p.Leu263=)
2g.127427221T>CCA1859441PROCc.795T>C (p.Leu265=)
c.121-1136T>C
c.897T>C (p.Leu299=)
c.978T>C (p.Leu326=)
c.960T>C (p.Leu320=)
c.858T>C (p.Leu286=)
n.1486-833A>G
c.1038T>C (p.Leu346=)
c.1140T>C (p.Leu380=)
c.1080T>C (p.Leu360=)
n.4197-833A>G
c.963T>C (p.Leu321=)
c.981T>C (p.Leu327=)
c.738T>C (p.Leu246=)
c.771T>C (p.Leu257=)
c.789T>C (p.Leu263=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427221T>GCA428618695PROCc.795T>G (p.Leu265=)
c.121-1136T>G
c.897T>G (p.Leu299=)
c.978T>G (p.Leu326=)
c.960T>G (p.Leu320=)
c.858T>G (p.Leu286=)
n.1486-833A>C
c.1038T>G (p.Leu346=)
c.1140T>G (p.Leu380=)
c.1080T>G (p.Leu360=)
n.4197-833A>C
c.963T>G (p.Leu321=)
c.981T>G (p.Leu327=)
c.738T>G (p.Leu246=)
c.771T>G (p.Leu257=)
c.789T>G (p.Leu263=)
2g.127427221T=CA1286883889PROCc.795T= (p.Leu265=)
c.121-1136T=
c.897T= (p.Leu299=)
c.978T= (p.Leu326=)
c.960T= (p.Leu320=)
c.858T= (p.Leu286=)
n.1486-833A=
c.1038T= (p.Leu346=)
c.1140T= (p.Leu380=)
c.1080T= (p.Leu360=)
n.4197-833A=
c.963T= (p.Leu321=)
c.981T= (p.Leu327=)
c.738T= (p.Leu246=)
c.771T= (p.Leu257=)
c.789T= (p.Leu263=)
2g.127427221_127427222insACA2586969903PROCc.795_796insA (p.Gly266ArgfsTer4)
c.121-1136_121-1135insA
c.897_898insA (p.Gly300ArgfsTer4)
c.978_979insA (p.Gly327ArgfsTer4)
c.960_961insA (p.Gly321ArgfsTer4)
c.858_859insA (p.Gly287ArgfsTer4)
n.1486-834_1486-833insT
c.1038_1039insA (p.Gly347ArgfsTer4)
c.1140_1141insA (p.Gly381ArgfsTer4)
c.1080_1081insA (p.Gly361ArgfsTer4)
n.4197-834_4197-833insT
c.963_964insA (p.Gly322ArgfsTer4)
c.981_982insA (p.Gly328ArgfsTer4)
c.738_739insA (p.Gly247ArgfsTer4)
c.771_772insA (p.Gly258ArgfsTer4)
c.789_790insA (p.Gly264ArgfsTer4)
2g.127427222G>ACA348402697PROCc.796G>A (p.Gly266Arg)
c.121-1135G>A
c.898G>A (p.Gly300Arg)
c.979G>A (p.Gly327Arg)
c.961G>A (p.Gly321Arg)
c.859G>A (p.Gly287Arg)
n.1486-834C>T
c.1039G>A (p.Gly347Arg)
c.1141G>A (p.Gly381Arg)
c.1081G>A (p.Gly361Arg)
n.4197-834C>T
c.964G>A (p.Gly322Arg)
c.982G>A (p.Gly328Arg)
c.739G>A (p.Gly247Arg)
c.772G>A (p.Gly258Arg)
c.790G>A (p.Gly264Arg)
 gnomAD v4
2g.127427222G>CCA348402699PROCc.796G>C (p.Gly266Arg)
c.121-1135G>C
c.898G>C (p.Gly300Arg)
c.979G>C (p.Gly327Arg)
c.961G>C (p.Gly321Arg)
c.859G>C (p.Gly287Arg)
n.1486-834C>G
c.1039G>C (p.Gly347Arg)
c.1141G>C (p.Gly381Arg)
c.1081G>C (p.Gly361Arg)
n.4197-834C>G
c.964G>C (p.Gly322Arg)
c.982G>C (p.Gly328Arg)
c.739G>C (p.Gly247Arg)
c.772G>C (p.Gly258Arg)
c.790G>C (p.Gly264Arg)
2g.127427222G>TCA348402709PROCc.796G>T (p.Gly266Ter)
c.121-1135G>T
c.898G>T (p.Gly300Ter)
c.979G>T (p.Gly327Ter)
c.961G>T (p.Gly321Ter)
c.859G>T (p.Gly287Ter)
n.1486-834C>A
c.1039G>T (p.Gly347Ter)
c.1141G>T (p.Gly381Ter)
c.1081G>T (p.Gly361Ter)
n.4197-834C>A
c.964G>T (p.Gly322Ter)
c.982G>T (p.Gly328Ter)
c.739G>T (p.Gly247Ter)
c.772G>T (p.Gly258Ter)
c.790G>T (p.Gly264Ter)
 gnomAD v4
2g.127427223G>ACA348402714PROCc.796+1G>A (n.796+1G>A)
c.121-1134G>A
c.898+1G>A (n.898+1G>A)
c.979+1G>A (n.979+1G>A)
c.961+1G>A (n.961+1G>A)
c.859+1G>A (n.859+1G>A)
n.1486-835C>T
c.1039+1G>A (n.1039+1G>A)
c.1141+1G>A (n.1141+1G>A)
c.1081+1G>A (n.1081+1G>A)
n.4197-835C>T
c.964+1G>A (n.964+1G>A)
c.982+1G>A (n.982+1G>A)
c.739+1G>A (n.739+1G>A)
c.772+1G>A (n.772+1G>A)
c.790+1G>A (n.790+1G>A)
2g.127427223G>CCA348402727PROCc.796+1G>C (n.796+1G>C)
c.121-1134G>C
c.898+1G>C (n.898+1G>C)
c.979+1G>C (n.979+1G>C)
c.961+1G>C (n.961+1G>C)
c.859+1G>C (n.859+1G>C)
n.1486-835C>G
c.1039+1G>C (n.1039+1G>C)
c.1141+1G>C (n.1141+1G>C)
c.1081+1G>C (n.1081+1G>C)
n.4197-835C>G
c.964+1G>C (n.964+1G>C)
c.982+1G>C (n.982+1G>C)
c.739+1G>C (n.739+1G>C)
c.772+1G>C (n.772+1G>C)
c.790+1G>C (n.790+1G>C)
2g.127427223G=CA1286883890PROCc.796+1G= (n.796+1G=)
c.121-1134G=
c.898+1G= (n.898+1G=)
c.979+1G= (n.979+1G=)
c.961+1G= (n.961+1G=)
c.859+1G= (n.859+1G=)
n.1486-835C=
c.1039+1G= (n.1039+1G=)
c.1141+1G= (n.1141+1G=)
c.1081+1G= (n.1081+1G=)
n.4197-835C=
c.964+1G= (n.964+1G=)
c.982+1G= (n.982+1G=)
c.739+1G= (n.739+1G=)
c.772+1G= (n.772+1G=)
c.790+1G= (n.790+1G=)
2g.127427223G>TCA348402728PROCc.796+1G>T (n.796+1G>T)
c.121-1134G>T
c.898+1G>T (n.898+1G>T)
c.979+1G>T (n.979+1G>T)
c.961+1G>T (n.961+1G>T)
c.859+1G>T (n.859+1G>T)
n.1486-835C>A
c.1039+1G>T (n.1039+1G>T)
c.1141+1G>T (n.1141+1G>T)
c.1081+1G>T (n.1081+1G>T)
n.4197-835C>A
c.964+1G>T (n.964+1G>T)
c.982+1G>T (n.982+1G>T)
c.739+1G>T (n.739+1G>T)
c.772+1G>T (n.772+1G>T)
c.790+1G>T (n.790+1G>T)
 dbSNP
2g.127427224T>ACA348402733PROCc.796+2T>A (n.796+2T>A)
c.121-1133T>A
c.898+2T>A (n.898+2T>A)
c.979+2T>A (n.979+2T>A)
c.961+2T>A (n.961+2T>A)
c.859+2T>A (n.859+2T>A)
n.1486-836A>T
c.1039+2T>A (n.1039+2T>A)
c.1141+2T>A (n.1141+2T>A)
c.1081+2T>A (n.1081+2T>A)
n.4197-836A>T
c.964+2T>A (n.964+2T>A)
c.982+2T>A (n.982+2T>A)
c.739+2T>A (n.739+2T>A)
c.772+2T>A (n.772+2T>A)
c.790+2T>A (n.790+2T>A)
2g.127427224T>CCA348402737PROCc.796+2T>C (n.796+2T>C)
c.121-1133T>C
c.898+2T>C (n.898+2T>C)
c.979+2T>C (n.979+2T>C)
c.961+2T>C (n.961+2T>C)
c.859+2T>C (n.859+2T>C)
n.1486-836A>G
c.1039+2T>C (n.1039+2T>C)
c.1141+2T>C (n.1141+2T>C)
c.1081+2T>C (n.1081+2T>C)
n.4197-836A>G
c.964+2T>C (n.964+2T>C)
c.982+2T>C (n.982+2T>C)
c.739+2T>C (n.739+2T>C)
c.772+2T>C (n.772+2T>C)
c.790+2T>C (n.790+2T>C)
2g.127427224T>GCA348402746PROCc.796+2T>G (n.796+2T>G)
c.121-1133T>G
c.898+2T>G (n.898+2T>G)
c.979+2T>G (n.979+2T>G)
c.961+2T>G (n.961+2T>G)
c.859+2T>G (n.859+2T>G)
n.1486-836A>C
c.1039+2T>G (n.1039+2T>G)
c.1141+2T>G (n.1141+2T>G)
c.1081+2T>G (n.1081+2T>G)
n.4197-836A>C
c.964+2T>G (n.964+2T>G)
c.982+2T>G (n.982+2T>G)
c.739+2T>G (n.739+2T>G)
c.772+2T>G (n.772+2T>G)
c.790+2T>G (n.790+2T>G)
2g.127427225A>TCA2586969904PROCc.796+3A>T (n.796+3A>T)
c.121-1132A>T
c.898+3A>T (n.898+3A>T)
c.979+3A>T (n.979+3A>T)
c.961+3A>T (n.961+3A>T)
c.859+3A>T (n.859+3A>T)
n.1486-837T>A
c.1039+3A>T (n.1039+3A>T)
c.1141+3A>T (n.1141+3A>T)
c.1081+3A>T (n.1081+3A>T)
n.4197-837T>A
c.964+3A>T (n.964+3A>T)
c.982+3A>T (n.982+3A>T)
c.739+3A>T (n.739+3A>T)
c.772+3A>T (n.772+3A>T)
c.790+3A>T (n.790+3A>T)
2g.127427228G>ACA2660997555PROCc.796+6G>A (n.796+6G>A)
c.121-1129G>A
c.898+6G>A (n.898+6G>A)
c.979+6G>A (n.979+6G>A)
c.961+6G>A (n.961+6G>A)
c.859+6G>A (n.859+6G>A)
n.1486-840C>T
c.1039+6G>A (n.1039+6G>A)
c.1141+6G>A (n.1141+6G>A)
c.1081+6G>A (n.1081+6G>A)
n.4197-840C>T
c.964+6G>A (n.964+6G>A)
c.982+6G>A (n.982+6G>A)
c.739+6G>A (n.739+6G>A)
c.772+6G>A (n.772+6G>A)
c.790+6G>A (n.790+6G>A)
 gnomAD v4
2g.127427229G>ACA2660997556PROCc.796+7G>A (n.796+7G>A)
c.121-1128G>A
c.898+7G>A (n.898+7G>A)
c.979+7G>A (n.979+7G>A)
c.961+7G>A (n.961+7G>A)
c.859+7G>A (n.859+7G>A)
n.1486-841C>T
c.1039+7G>A (n.1039+7G>A)
c.1141+7G>A (n.1141+7G>A)
c.1081+7G>A (n.1081+7G>A)
n.4197-841C>T
c.964+7G>A (n.964+7G>A)
c.982+7G>A (n.982+7G>A)
c.739+7G>A (n.739+7G>A)
c.772+7G>A (n.772+7G>A)
c.790+7G>A (n.790+7G>A)
 gnomAD v4
2g.127427230C>ACA2660997557PROCc.796+8C>A (n.796+8C>A)
c.121-1127C>A
c.898+8C>A (n.898+8C>A)
c.979+8C>A (n.979+8C>A)
c.961+8C>A (n.961+8C>A)
c.859+8C>A (n.859+8C>A)
n.1486-842G>T
c.1039+8C>A (n.1039+8C>A)
c.1141+8C>A (n.1141+8C>A)
c.1081+8C>A (n.1081+8C>A)
n.4197-842G>T
c.964+8C>A (n.964+8C>A)
c.982+8C>A (n.982+8C>A)
c.739+8C>A (n.739+8C>A)
c.772+8C>A (n.772+8C>A)
c.790+8C>A (n.790+8C>A)
 gnomAD v4
2g.127427230C=CA1286883891PROCc.796+8C= (n.796+8C=)
c.121-1127C=
c.898+8C= (n.898+8C=)
c.979+8C= (n.979+8C=)
c.961+8C= (n.961+8C=)
c.859+8C= (n.859+8C=)
n.1486-842G=
c.1039+8C= (n.1039+8C=)
c.1141+8C= (n.1141+8C=)
c.1081+8C= (n.1081+8C=)
n.4197-842G=
c.964+8C= (n.964+8C=)
c.982+8C= (n.982+8C=)
c.739+8C= (n.739+8C=)
c.772+8C= (n.772+8C=)
c.790+8C= (n.790+8C=)
2g.127427230C>TCA1286883892PROCc.796+8C>T (n.796+8C>T)
c.121-1127C>T
c.898+8C>T (n.898+8C>T)
c.979+8C>T (n.979+8C>T)
c.961+8C>T (n.961+8C>T)
c.859+8C>T (n.859+8C>T)
n.1486-842G>A
c.1039+8C>T (n.1039+8C>T)
c.1141+8C>T (n.1141+8C>T)
c.1081+8C>T (n.1081+8C>T)
n.4197-842G>A
c.964+8C>T (n.964+8C>T)
c.982+8C>T (n.982+8C>T)
c.739+8C>T (n.739+8C>T)
c.772+8C>T (n.772+8C>T)
c.790+8C>T (n.790+8C>T)
 dbSNP gnomAD v4
2g.127427231T>CCA2577090274PROCc.796+9T>C (n.796+9T>C)
c.121-1126T>C
c.898+9T>C (n.898+9T>C)
c.979+9T>C (n.979+9T>C)
c.961+9T>C (n.961+9T>C)
c.859+9T>C (n.859+9T>C)
n.1486-843A>G
c.1039+9T>C (n.1039+9T>C)
c.1141+9T>C (n.1141+9T>C)
c.1081+9T>C (n.1081+9T>C)
n.4640A>G
n.4197-843A>G
c.964+9T>C (n.964+9T>C)
c.982+9T>C (n.982+9T>C)
c.739+9T>C (n.739+9T>C)
c.772+9T>C (n.772+9T>C)
c.790+9T>C (n.790+9T>C)
 gnomAD v4
2g.127427232G>ACA1859442PROCc.796+10G>A (n.796+10G>A)
c.121-1125G>A
c.898+10G>A (n.898+10G>A)
c.979+10G>A (n.979+10G>A)
c.961+10G>A (n.961+10G>A)
c.859+10G>A (n.859+10G>A)
n.1486-844C>T
c.1039+10G>A (n.1039+10G>A)
c.1141+10G>A (n.1141+10G>A)
c.1081+10G>A (n.1081+10G>A)
n.4639C>T
n.4197-844C>T
c.964+10G>A (n.964+10G>A)
c.982+10G>A (n.982+10G>A)
c.739+10G>A (n.739+10G>A)
c.772+10G>A (n.772+10G>A)
c.790+10G>A (n.790+10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427232G=CA1286883893PROCc.796+10G= (n.796+10G=)
c.121-1125G=
c.898+10G= (n.898+10G=)
c.979+10G= (n.979+10G=)
c.961+10G= (n.961+10G=)
c.859+10G= (n.859+10G=)
n.1486-844C=
c.1039+10G= (n.1039+10G=)
c.1141+10G= (n.1141+10G=)
c.1081+10G= (n.1081+10G=)
n.4639C=
n.4197-844C=
c.964+10G= (n.964+10G=)
c.982+10G= (n.982+10G=)
c.739+10G= (n.739+10G=)
c.772+10G= (n.772+10G=)
c.790+10G= (n.790+10G=)
2g.127427233delCA2660997558PROCc.796+11del (n.796+11del)
c.121-1124del
c.898+11del (n.898+11del)
c.979+11del (n.979+11del)
c.961+11del (n.961+11del)
c.859+11del (n.859+11del)
n.1486-844del
c.1039+11del (n.1039+11del)
c.1141+11del (n.1141+11del)
c.1081+11del (n.1081+11del)
n.4639del
n.4197-844del
c.964+11del (n.964+11del)
c.982+11del (n.982+11del)
c.739+11del (n.739+11del)
c.772+11del (n.772+11del)
c.790+11del (n.790+11del)
 gnomAD v4
2g.127427233G>ACA1859443PROCc.796+11G>A (n.796+11G>A)
c.121-1124G>A
c.898+11G>A (n.898+11G>A)
c.979+11G>A (n.979+11G>A)
c.961+11G>A (n.961+11G>A)
c.859+11G>A (n.859+11G>A)
n.1486-845C>T
c.1039+11G>A (n.1039+11G>A)
c.1141+11G>A (n.1141+11G>A)
c.1081+11G>A (n.1081+11G>A)
n.4638C>T
n.4197-845C>T
c.964+11G>A (n.964+11G>A)
c.982+11G>A (n.982+11G>A)
c.739+11G>A (n.739+11G>A)
c.772+11G>A (n.772+11G>A)
c.790+11G>A (n.790+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427233G>CCA2577090275PROCc.796+11G>C (n.796+11G>C)
c.121-1124G>C
c.898+11G>C (n.898+11G>C)
c.979+11G>C (n.979+11G>C)
c.961+11G>C (n.961+11G>C)
c.859+11G>C (n.859+11G>C)
n.1486-845C>G
c.1039+11G>C (n.1039+11G>C)
c.1141+11G>C (n.1141+11G>C)
c.1081+11G>C (n.1081+11G>C)
n.4638C>G
n.4197-845C>G
c.964+11G>C (n.964+11G>C)
c.982+11G>C (n.982+11G>C)
c.739+11G>C (n.739+11G>C)
c.772+11G>C (n.772+11G>C)
c.790+11G>C (n.790+11G>C)
2g.127427233G=CA1286883894PROCc.796+11G= (n.796+11G=)
c.121-1124G=
c.898+11G= (n.898+11G=)
c.979+11G= (n.979+11G=)
c.961+11G= (n.961+11G=)
c.859+11G= (n.859+11G=)
n.1486-845C=
c.1039+11G= (n.1039+11G=)
c.1141+11G= (n.1141+11G=)
c.1081+11G= (n.1081+11G=)
n.4638C=
n.4197-845C=
c.964+11G= (n.964+11G=)
c.982+11G= (n.982+11G=)
c.739+11G= (n.739+11G=)
c.772+11G= (n.772+11G=)
c.790+11G= (n.790+11G=)
2g.127427233G>TCA2660997559PROCc.796+11G>T (n.796+11G>T)
c.121-1124G>T
c.898+11G>T (n.898+11G>T)
c.979+11G>T (n.979+11G>T)
c.961+11G>T (n.961+11G>T)
c.859+11G>T (n.859+11G>T)
n.1486-845C>A
c.1039+11G>T (n.1039+11G>T)
c.1141+11G>T (n.1141+11G>T)
c.1081+11G>T (n.1081+11G>T)
n.4638C>A
n.4197-845C>A
c.964+11G>T (n.964+11G>T)
c.982+11G>T (n.982+11G>T)
c.739+11G>T (n.739+11G>T)
c.772+11G>T (n.772+11G>T)
c.790+11G>T (n.790+11G>T)
 gnomAD v4
2g.127427234A=CA1286883895PROCc.796+12A= (n.796+12A=)
c.121-1123A=
c.898+12A= (n.898+12A=)
c.979+12A= (n.979+12A=)
c.961+12A= (n.961+12A=)
c.859+12A= (n.859+12A=)
n.1486-846T=
c.1039+12A= (n.1039+12A=)
c.1141+12A= (n.1141+12A=)
c.1081+12A= (n.1081+12A=)
n.4637T=
n.4197-846T=
c.964+12A= (n.964+12A=)
c.982+12A= (n.982+12A=)
c.739+12A= (n.739+12A=)
c.772+12A= (n.772+12A=)
c.790+12A= (n.790+12A=)
2g.127427234A>TCA535640191PROCc.796+12A>T (n.796+12A>T)
c.121-1123A>T
c.898+12A>T (n.898+12A>T)
c.979+12A>T (n.979+12A>T)
c.961+12A>T (n.961+12A>T)
c.859+12A>T (n.859+12A>T)
n.1486-846T>A
c.1039+12A>T (n.1039+12A>T)
c.1141+12A>T (n.1141+12A>T)
c.1081+12A>T (n.1081+12A>T)
n.4637T>A
n.4197-846T>A
c.964+12A>T (n.964+12A>T)
c.982+12A>T (n.982+12A>T)
c.739+12A>T (n.739+12A>T)
c.772+12A>T (n.772+12A>T)
c.790+12A>T (n.790+12A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.127427235G>ACA2660997560PROCc.796+13G>A (n.796+13G>A)
c.121-1122G>A
c.898+13G>A (n.898+13G>A)
c.979+13G>A (n.979+13G>A)
c.961+13G>A (n.961+13G>A)
c.859+13G>A (n.859+13G>A)
n.1486-847C>T
c.1039+13G>A (n.1039+13G>A)
c.1141+13G>A (n.1141+13G>A)
c.1081+13G>A (n.1081+13G>A)
n.4636C>T
n.4197-847C>T
c.964+13G>A (n.964+13G>A)
c.982+13G>A (n.982+13G>A)
c.739+13G>A (n.739+13G>A)
c.772+13G>A (n.772+13G>A)
c.790+13G>A (n.790+13G>A)
 gnomAD v4
2g.127427235G>TCA647164158PROCc.796+13G>T (n.796+13G>T)
c.121-1122G>T
c.898+13G>T (n.898+13G>T)
c.979+13G>T (n.979+13G>T)
c.961+13G>T (n.961+13G>T)
c.859+13G>T (n.859+13G>T)
n.1486-847C>A
c.1039+13G>T (n.1039+13G>T)
c.1141+13G>T (n.1141+13G>T)
c.1081+13G>T (n.1081+13G>T)
n.4636C>A
n.4197-847C>A
c.964+13G>T (n.964+13G>T)
c.982+13G>T (n.982+13G>T)
c.739+13G>T (n.739+13G>T)
c.772+13G>T (n.772+13G>T)
c.790+13G>T (n.790+13G>T)
 COSMIC
2g.127427236C>ACA535640193PROCc.796+14C>A (n.796+14C>A)
c.121-1121C>A
c.898+14C>A (n.898+14C>A)
c.979+14C>A (n.979+14C>A)
c.961+14C>A (n.961+14C>A)
c.859+14C>A (n.859+14C>A)
n.1486-848G>T
c.1039+14C>A (n.1039+14C>A)
c.1141+14C>A (n.1141+14C>A)
c.1081+14C>A (n.1081+14C>A)
n.4635G>T
n.4197-848G>T
c.964+14C>A (n.964+14C>A)
c.982+14C>A (n.982+14C>A)
c.739+14C>A (n.739+14C>A)
c.772+14C>A (n.772+14C>A)
c.790+14C>A (n.790+14C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.127427236C=CA1286883896PROCc.796+14C= (n.796+14C=)
c.121-1121C=
c.898+14C= (n.898+14C=)
c.979+14C= (n.979+14C=)
c.961+14C= (n.961+14C=)
c.859+14C= (n.859+14C=)
n.1486-848G=
c.1039+14C= (n.1039+14C=)
c.1141+14C= (n.1141+14C=)
c.1081+14C= (n.1081+14C=)
n.4635G=
n.4197-848G=
c.964+14C= (n.964+14C=)
c.982+14C= (n.982+14C=)
c.739+14C= (n.739+14C=)
c.772+14C= (n.772+14C=)
c.790+14C= (n.790+14C=)
2g.127427236C>GCA2660997561PROCc.796+14C>G (n.796+14C>G)
c.121-1121C>G
c.898+14C>G (n.898+14C>G)
c.979+14C>G (n.979+14C>G)
c.961+14C>G (n.961+14C>G)
c.859+14C>G (n.859+14C>G)
n.1486-848G>C
c.1039+14C>G (n.1039+14C>G)
c.1141+14C>G (n.1141+14C>G)
c.1081+14C>G (n.1081+14C>G)
n.4635G>C
n.4197-848G>C
c.964+14C>G (n.964+14C>G)
c.982+14C>G (n.982+14C>G)
c.739+14C>G (n.739+14C>G)
c.772+14C>G (n.772+14C>G)
c.790+14C>G (n.790+14C>G)
 gnomAD v4
2g.127427237C>ACA2577090276PROCc.796+15C>A (n.796+15C>A)
c.121-1120C>A
c.898+15C>A (n.898+15C>A)
c.979+15C>A (n.979+15C>A)
c.961+15C>A (n.961+15C>A)
c.859+15C>A (n.859+15C>A)
n.1486-849G>T
c.1039+15C>A (n.1039+15C>A)
c.1141+15C>A (n.1141+15C>A)
c.1081+15C>A (n.1081+15C>A)
n.4634G>T
n.4197-849G>T
c.964+15C>A (n.964+15C>A)
c.982+15C>A (n.982+15C>A)
c.739+15C>A (n.739+15C>A)
c.772+15C>A (n.772+15C>A)
c.790+15C>A (n.790+15C>A)
2g.127427237C=CA1286883897PROCc.796+15C= (n.796+15C=)
c.121-1120C=
c.898+15C= (n.898+15C=)
c.979+15C= (n.979+15C=)
c.961+15C= (n.961+15C=)
c.859+15C= (n.859+15C=)
n.1486-849G=
c.1039+15C= (n.1039+15C=)
c.1141+15C= (n.1141+15C=)
c.1081+15C= (n.1081+15C=)
n.4634G=
n.4197-849G=
c.964+15C= (n.964+15C=)
c.982+15C= (n.982+15C=)
c.739+15C= (n.739+15C=)
c.772+15C= (n.772+15C=)
c.790+15C= (n.790+15C=)
2g.127427237C>TCA535640194PROCc.796+15C>T (n.796+15C>T)
c.121-1120C>T
c.898+15C>T (n.898+15C>T)
c.979+15C>T (n.979+15C>T)
c.961+15C>T (n.961+15C>T)
c.859+15C>T (n.859+15C>T)
n.1486-849G>A
c.1039+15C>T (n.1039+15C>T)
c.1141+15C>T (n.1141+15C>T)
c.1081+15C>T (n.1081+15C>T)
n.4634G>A
n.4197-849G>A
c.964+15C>T (n.964+15C>T)
c.982+15C>T (n.982+15C>T)
c.739+15C>T (n.739+15C>T)
c.772+15C>T (n.772+15C>T)
c.790+15C>T (n.790+15C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.127427238delCA2577090278PROCc.796+16del (n.796+16del)
c.121-1119del
c.898+16del (n.898+16del)
c.979+16del (n.979+16del)
c.961+16del (n.961+16del)
c.859+16del (n.859+16del)
n.1486-850del
c.1039+16del (n.1039+16del)
c.1141+16del (n.1141+16del)
c.1081+16del (n.1081+16del)
n.4633del
n.4197-850del
c.964+16del (n.964+16del)
c.982+16del (n.982+16del)
c.739+16del (n.739+16del)
c.772+16del (n.772+16del)
c.790+16del (n.790+16del)
2g.127427238A=CA1286883898PROCc.796+16A= (n.796+16A=)
c.121-1119A=
c.898+16A= (n.898+16A=)
c.979+16A= (n.979+16A=)
c.961+16A= (n.961+16A=)
c.859+16A= (n.859+16A=)
n.1486-850T=
c.1039+16A= (n.1039+16A=)
c.1141+16A= (n.1141+16A=)
c.1081+16A= (n.1081+16A=)
n.4633T=
n.4197-850T=
c.964+16A= (n.964+16A=)
c.982+16A= (n.982+16A=)
c.739+16A= (n.739+16A=)
c.772+16A= (n.772+16A=)
c.790+16A= (n.790+16A=)
2g.127427238A>GCA1859444PROCc.796+16A>G (n.796+16A>G)
c.121-1119A>G
c.898+16A>G (n.898+16A>G)
c.979+16A>G (n.979+16A>G)
c.961+16A>G (n.961+16A>G)
c.859+16A>G (n.859+16A>G)
n.1486-850T>C
c.1039+16A>G (n.1039+16A>G)
c.1141+16A>G (n.1141+16A>G)
c.1081+16A>G (n.1081+16A>G)
n.4633T>C
n.4197-850T>C
c.964+16A>G (n.964+16A>G)
c.982+16A>G (n.982+16A>G)
c.739+16A>G (n.739+16A>G)
c.772+16A>G (n.772+16A>G)
c.790+16A>G (n.790+16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127427240G>ACA2660997563PROCc.796+18G>A (n.796+18G>A)
c.121-1117G>A
c.898+18G>A (n.898+18G>A)
c.979+18G>A (n.979+18G>A)
c.961+18G>A (n.961+18G>A)
c.859+18G>A (n.859+18G>A)
n.1486-852C>T
c.1039+18G>A (n.1039+18G>A)
c.1141+18G>A (n.1141+18G>A)
c.1081+18G>A (n.1081+18G>A)
n.4631C>T
n.4197-852C>T
c.964+18G>A (n.964+18G>A)
c.982+18G>A (n.982+18G>A)
c.739+18G>A (n.739+18G>A)
c.772+18G>A (n.772+18G>A)
c.790+18G>A (n.790+18G>A)
 gnomAD v4
2g.127427240G>TCA2660997562PROCc.796+18G>T (n.796+18G>T)
c.121-1117G>T
c.898+18G>T (n.898+18G>T)
c.979+18G>T (n.979+18G>T)
c.961+18G>T (n.961+18G>T)
c.859+18G>T (n.859+18G>T)
n.1486-852C>A
c.1039+18G>T (n.1039+18G>T)
c.1141+18G>T (n.1141+18G>T)
c.1081+18G>T (n.1081+18G>T)
n.4631C>A
n.4197-852C>A
c.964+18G>T (n.964+18G>T)
c.982+18G>T (n.982+18G>T)
c.739+18G>T (n.739+18G>T)
c.772+18G>T (n.772+18G>T)
c.790+18G>T (n.790+18G>T)
 gnomAD v4
2g.127427241C>ACA2660997564PROCc.796+19C>A (n.796+19C>A)
c.121-1116C>A
c.898+19C>A (n.898+19C>A)
c.979+19C>A (n.979+19C>A)
c.961+19C>A (n.961+19C>A)
c.859+19C>A (n.859+19C>A)
n.1486-853G>T
c.1039+19C>A (n.1039+19C>A)
c.1141+19C>A (n.1141+19C>A)
c.1081+19C>A (n.1081+19C>A)
n.4630G>T
n.4197-853G>T
c.964+19C>A (n.964+19C>A)
c.982+19C>A (n.982+19C>A)
c.739+19C>A (n.739+19C>A)
c.772+19C>A (n.772+19C>A)
c.790+19C>A (n.790+19C>A)
 gnomAD v4
2g.127427243G>ACA2660997566PROCc.796+21G>A (n.796+21G>A)
c.121-1114G>A
c.898+21G>A (n.898+21G>A)
c.979+21G>A (n.979+21G>A)
c.961+21G>A (n.961+21G>A)
c.859+21G>A (n.859+21G>A)
n.1486-855C>T
c.1039+21G>A (n.1039+21G>A)
c.1141+21G>A (n.1141+21G>A)
c.1081+21G>A (n.1081+21G>A)
n.4628C>T
n.4197-855C>T
c.964+21G>A (n.964+21G>A)
c.982+21G>A (n.982+21G>A)
c.739+21G>A (n.739+21G>A)
c.772+21G>A (n.772+21G>A)
c.790+21G>A (n.790+21G>A)
 gnomAD v4
2g.127427243G>TCA2660997565PROCc.796+21G>T (n.796+21G>T)
c.121-1114G>T
c.898+21G>T (n.898+21G>T)
c.979+21G>T (n.979+21G>T)
c.961+21G>T (n.961+21G>T)
c.859+21G>T (n.859+21G>T)
n.1486-855C>A
c.1039+21G>T (n.1039+21G>T)
c.1141+21G>T (n.1141+21G>T)
c.1081+21G>T (n.1081+21G>T)
n.4628C>A
n.4197-855C>A
c.964+21G>T (n.964+21G>T)
c.982+21G>T (n.982+21G>T)
c.739+21G>T (n.739+21G>T)
c.772+21G>T (n.772+21G>T)
c.790+21G>T (n.790+21G>T)
 gnomAD v4
2g.127427245A>CCA2660997567PROCc.796+23A>C (n.796+23A>C)
c.121-1112A>C
c.898+23A>C (n.898+23A>C)
c.979+23A>C (n.979+23A>C)
c.961+23A>C (n.961+23A>C)
c.859+23A>C (n.859+23A>C)
n.1486-857T>G
c.1039+23A>C (n.1039+23A>C)
c.1141+23A>C (n.1141+23A>C)
c.1081+23A>C (n.1081+23A>C)
n.4626T>G
n.4197-857T>G
c.964+23A>C (n.964+23A>C)
c.982+23A>C (n.982+23A>C)
c.739+23A>C (n.739+23A>C)
c.772+23A>C (n.772+23A>C)
c.790+23A>C (n.790+23A>C)
 gnomAD v4
2g.127427246G>ACA2660997569PROCc.796+24G>A (n.796+24G>A)
c.121-1111G>A
c.898+24G>A (n.898+24G>A)
c.979+24G>A (n.979+24G>A)
c.961+24G>A (n.961+24G>A)
c.859+24G>A (n.859+24G>A)
n.1486-858C>T
c.1039+24G>A (n.1039+24G>A)
c.1141+24G>A (n.1141+24G>A)
c.1081+24G>A (n.1081+24G>A)
n.4625C>T
n.4197-858C>T
c.964+24G>A (n.964+24G>A)
c.982+24G>A (n.982+24G>A)
c.739+24G>A (n.739+24G>A)
c.772+24G>A (n.772+24G>A)
c.790+24G>A (n.790+24G>A)
 gnomAD v4
2g.127427250dupCA2752102974PROCc.796+28dup (n.796+28dup)
c.121-1107dup
c.898+28dup (n.898+28dup)
c.979+28dup (n.979+28dup)
c.961+28dup (n.961+28dup)
c.859+28dup (n.859+28dup)
n.1486-858dup
c.1039+28dup (n.1039+28dup)
c.1141+28dup (n.1141+28dup)
c.1081+28dup (n.1081+28dup)
n.4625dup
n.4197-858dup
c.964+28dup (n.964+28dup)
c.982+28dup (n.982+28dup)
c.739+28dup (n.739+28dup)
c.772+28dup (n.772+28dup)
c.790+28dup (n.790+28dup)
2g.127427250delCA2660997568PROCc.796+28del (n.796+28del)
c.121-1107del
c.898+28del (n.898+28del)
c.979+28del (n.979+28del)
c.961+28del (n.961+28del)
c.859+28del (n.859+28del)
n.1486-858del
c.1039+28del (n.1039+28del)
c.1141+28del (n.1141+28del)
c.1081+28del (n.1081+28del)
n.4625del
n.4197-858del
c.964+28del (n.964+28del)
c.982+28del (n.982+28del)
c.739+28del (n.739+28del)
c.772+28del (n.772+28del)
c.790+28del (n.790+28del)
 gnomAD v4
2g.127427247G>ACA535640195PROCc.796+25G>A (n.796+25G>A)
c.121-1110G>A
c.898+25G>A (n.898+25G>A)
c.979+25G>A (n.979+25G>A)
c.961+25G>A (n.961+25G>A)
c.859+25G>A (n.859+25G>A)
n.1486-859C>T
c.1039+25G>A (n.1039+25G>A)
c.1141+25G>A (n.1141+25G>A)
c.1081+25G>A (n.1081+25G>A)
n.4624C>T
n.4197-859C>T
c.964+25G>A (n.964+25G>A)
c.982+25G>A (n.982+25G>A)
c.739+25G>A (n.739+25G>A)
c.772+25G>A (n.772+25G>A)
c.790+25G>A (n.790+25G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.127427247G=CA1286883899PROCc.796+25G= (n.796+25G=)
c.121-1110G=
c.898+25G= (n.898+25G=)
c.979+25G= (n.979+25G=)
c.961+25G= (n.961+25G=)
c.859+25G= (n.859+25G=)
n.1486-859C=
c.1039+25G= (n.1039+25G=)
c.1141+25G= (n.1141+25G=)
c.1081+25G= (n.1081+25G=)
n.4624C=
n.4197-859C=
c.964+25G= (n.964+25G=)
c.982+25G= (n.982+25G=)
c.739+25G= (n.739+25G=)
c.772+25G= (n.772+25G=)
c.790+25G= (n.790+25G=)
2g.127427247G>TCA1859445PROCc.796+25G>T (n.796+25G>T)
c.121-1110G>T
c.898+25G>T (n.898+25G>T)
c.979+25G>T (n.979+25G>T)
c.961+25G>T (n.961+25G>T)
c.859+25G>T (n.859+25G>T)
n.1486-859C>A
c.1039+25G>T (n.1039+25G>T)
c.1141+25G>T (n.1141+25G>T)
c.1081+25G>T (n.1081+25G>T)
n.4624C>A
n.4197-859C>A
c.964+25G>T (n.964+25G>T)
c.982+25G>T (n.982+25G>T)
c.739+25G>T (n.739+25G>T)
c.772+25G>T (n.772+25G>T)
c.790+25G>T (n.790+25G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127427248G>ACA2577090279PROCc.796+26G>A (n.796+26G>A)
c.121-1109G>A
c.898+26G>A (n.898+26G>A)
c.979+26G>A (n.979+26G>A)
c.961+26G>A (n.961+26G>A)
c.859+26G>A (n.859+26G>A)
n.1486-860C>T
c.1039+26G>A (n.1039+26G>A)
c.1141+26G>A (n.1141+26G>A)
c.1081+26G>A (n.1081+26G>A)
n.4623C>T
n.4197-860C>T
c.964+26G>A (n.964+26G>A)
c.982+26G>A (n.982+26G>A)
c.739+26G>A (n.739+26G>A)
c.772+26G>A (n.772+26G>A)
c.790+26G>A (n.790+26G>A)
2g.127427249G>ACA756629964PROCc.796+27G>A (n.796+27G>A)
c.121-1108G>A
c.898+27G>A (n.898+27G>A)
c.979+27G>A (n.979+27G>A)
c.961+27G>A (n.961+27G>A)
c.859+27G>A (n.859+27G>A)
n.1486-861C>T
c.1039+27G>A (n.1039+27G>A)
c.1141+27G>A (n.1141+27G>A)
c.1081+27G>A (n.1081+27G>A)
n.4622C>T
n.4197-861C>T
c.964+27G>A (n.964+27G>A)
c.982+27G>A (n.982+27G>A)
c.739+27G>A (n.739+27G>A)
c.772+27G>A (n.772+27G>A)
c.790+27G>A (n.790+27G>A)
 dbSNP
2g.127427249G=CA1286883900PROCc.796+27G= (n.796+27G=)
c.121-1108G=
c.898+27G= (n.898+27G=)
c.979+27G= (n.979+27G=)
c.961+27G= (n.961+27G=)
c.859+27G= (n.859+27G=)
n.1486-861C=
c.1039+27G= (n.1039+27G=)
c.1141+27G= (n.1141+27G=)
c.1081+27G= (n.1081+27G=)
n.4622C=
n.4197-861C=
c.964+27G= (n.964+27G=)
c.982+27G= (n.982+27G=)
c.739+27G= (n.739+27G=)
c.772+27G= (n.772+27G=)
c.790+27G= (n.790+27G=)
2g.127427250G>ACA2660997570PROCc.796+28G>A (n.796+28G>A)
c.121-1107G>A
c.898+28G>A (n.898+28G>A)
c.979+28G>A (n.979+28G>A)
c.961+28G>A (n.961+28G>A)
c.859+28G>A (n.859+28G>A)
n.1486-862C>T
c.1039+28G>A (n.1039+28G>A)
c.1141+28G>A (n.1141+28G>A)
c.1081+28G>A (n.1081+28G>A)
n.4621C>T
n.4197-862C>T
c.964+28G>A (n.964+28G>A)
c.982+28G>A (n.982+28G>A)
c.739+28G>A (n.739+28G>A)
c.772+28G>A (n.772+28G>A)
c.790+28G>A (n.790+28G>A)
 gnomAD v4
2g.127427251C>ACA2577090280PROCc.796+29C>A (n.796+29C>A)
c.121-1106C>A
c.898+29C>A (n.898+29C>A)
c.979+29C>A (n.979+29C>A)
c.961+29C>A (n.961+29C>A)
c.859+29C>A (n.859+29C>A)
n.1485+860G>T
c.1039+29C>A (n.1039+29C>A)
c.1141+29C>A (n.1141+29C>A)
c.1081+29C>A (n.1081+29C>A)
n.4620G>T
n.4196+860G>T
c.964+29C>A (n.964+29C>A)
c.982+29C>A (n.982+29C>A)
c.739+29C>A (n.739+29C>A)
c.772+29C>A (n.772+29C>A)
c.790+29C>A (n.790+29C>A)
2g.127427251C>TCA2660997571PROCc.796+29C>T (n.796+29C>T)
c.121-1106C>T
c.898+29C>T (n.898+29C>T)
c.979+29C>T (n.979+29C>T)
c.961+29C>T (n.961+29C>T)
c.859+29C>T (n.859+29C>T)
n.1485+860G>A
c.1039+29C>T (n.1039+29C>T)
c.1141+29C>T (n.1141+29C>T)
c.1081+29C>T (n.1081+29C>T)
n.4620G>A
n.4196+860G>A
c.964+29C>T (n.964+29C>T)
c.982+29C>T (n.982+29C>T)
c.739+29C>T (n.739+29C>T)
c.772+29C>T (n.772+29C>T)
c.790+29C>T (n.790+29C>T)
 gnomAD v4
2g.127427254_127427264delCA2577090281PROCc.796+32_796+42del (n.796+32_796+42del)
c.121-1103_121-1093del
c.898+32_898+42del (n.898+32_898+42del)
c.979+32_979+42del (n.979+32_979+42del)
c.961+32_961+42del (n.961+32_961+42del)
c.859+32_859+42del (n.859+32_859+42del)
n.1485+850_1485+860del
c.1039+32_1039+42del (n.1039+32_1039+42del)
c.1141+32_1141+42del (n.1141+32_1141+42del)
c.1081+32_1081+42del (n.1081+32_1081+42del)
n.4610_4620del
n.4196+850_4196+860del
c.964+32_964+42del (n.964+32_964+42del)
c.982+32_982+42del (n.982+32_982+42del)
c.739+32_739+42del (n.739+32_739+42del)
c.772+32_772+42del (n.772+32_772+42del)
c.790+32_790+42del (n.790+32_790+42del)
2g.127427252delCA2752102975PROCc.796+30del (n.796+30del)
c.121-1105del
c.898+30del (n.898+30del)
c.979+30del (n.979+30del)
c.961+30del (n.961+30del)
c.859+30del (n.859+30del)
n.1485+859del
c.1039+30del (n.1039+30del)
c.1141+30del (n.1141+30del)
c.1081+30del (n.1081+30del)
n.4619del
n.4196+859del
c.964+30del (n.964+30del)
c.982+30del (n.982+30del)
c.739+30del (n.739+30del)
c.772+30del (n.772+30del)
c.790+30del (n.790+30del)
2g.127427252T>CCA535640196PROCc.796+30T>C (n.796+30T>C)
c.121-1105T>C
c.898+30T>C (n.898+30T>C)
c.979+30T>C (n.979+30T>C)
c.961+30T>C (n.961+30T>C)
c.859+30T>C (n.859+30T>C)
n.1485+859A>G
c.1039+30T>C (n.1039+30T>C)
c.1141+30T>C (n.1141+30T>C)
c.1081+30T>C (n.1081+30T>C)
n.4619A>G
n.4196+859A>G
c.964+30T>C (n.964+30T>C)
c.982+30T>C (n.982+30T>C)
c.739+30T>C (n.739+30T>C)
c.772+30T>C (n.772+30T>C)
c.790+30T>C (n.790+30T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.127427252T=CA1286883901PROCc.796+30T= (n.796+30T=)
c.121-1105T=
c.898+30T= (n.898+30T=)
c.979+30T= (n.979+30T=)
c.961+30T= (n.961+30T=)
c.859+30T= (n.859+30T=)
n.1485+859A=
c.1039+30T= (n.1039+30T=)
c.1141+30T= (n.1141+30T=)
c.1081+30T= (n.1081+30T=)
n.4619A=
n.4196+859A=
c.964+30T= (n.964+30T=)
c.982+30T= (n.982+30T=)
c.739+30T= (n.739+30T=)
c.772+30T= (n.772+30T=)
c.790+30T= (n.790+30T=)

Number of alleles fetched