Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.127428377T>A | CA348404286 | PROC | c.817T>A (p.Trp273Arg) c.141T>A c.919T>A (p.Trp307Arg) c.1000T>A (p.Trp334Arg) c.982T>A (p.Trp328Arg) c.880T>A (p.Trp294Arg) n.1332-113A>T c.1060T>A (p.Trp354Arg) c.1162T>A (p.Trp388Arg) c.1102T>A (p.Trp368Arg) n.3607-113A>T n.4043-113A>T c.985T>A (p.Trp329Arg) c.1003T>A (p.Trp335Arg) c.760T>A (p.Trp254Arg) c.793T>A (p.Trp265Arg) c.811T>A (p.Trp271Arg) | |
2 | g.127428377T>C | CA348404288 | PROC | c.817T>C (p.Trp273Arg) c.141T>C c.919T>C (p.Trp307Arg) c.1000T>C (p.Trp334Arg) c.982T>C (p.Trp328Arg) c.880T>C (p.Trp294Arg) n.1332-113A>G c.1060T>C (p.Trp354Arg) c.1162T>C (p.Trp388Arg) c.1102T>C (p.Trp368Arg) n.3607-113A>G n.4043-113A>G c.985T>C (p.Trp329Arg) c.1003T>C (p.Trp335Arg) c.760T>C (p.Trp254Arg) c.793T>C (p.Trp265Arg) c.811T>C (p.Trp271Arg) | |
2 | g.127428377T>G | CA348404290 | PROC | c.817T>G (p.Trp273Gly) c.141T>G c.919T>G (p.Trp307Gly) c.1000T>G (p.Trp334Gly) c.982T>G (p.Trp328Gly) c.880T>G (p.Trp294Gly) n.1332-113A>C c.1060T>G (p.Trp354Gly) c.1162T>G (p.Trp388Gly) c.1102T>G (p.Trp368Gly) n.3607-113A>C n.4043-113A>C c.985T>G (p.Trp329Gly) c.1003T>G (p.Trp335Gly) c.760T>G (p.Trp254Gly) c.793T>G (p.Trp265Gly) c.811T>G (p.Trp271Gly) | |
2 | g.127428378G>A | CA348404292 | PROC | c.818G>A (p.Trp273Ter) c.142G>A c.920G>A (p.Trp307Ter) c.1001G>A (p.Trp334Ter) c.983G>A (p.Trp328Ter) c.881G>A (p.Trp294Ter) n.1332-114C>T c.1061G>A (p.Trp354Ter) c.1163G>A (p.Trp388Ter) c.1103G>A (p.Trp368Ter) n.3607-114C>T n.4043-114C>T c.986G>A (p.Trp329Ter) c.1004G>A (p.Trp335Ter) c.761G>A (p.Trp254Ter) c.794G>A (p.Trp265Ter) c.812G>A (p.Trp271Ter) | |
2 | g.127428378G>C | CA348404293 | PROC | c.818G>C (p.Trp273Ser) c.142G>C c.920G>C (p.Trp307Ser) c.1001G>C (p.Trp334Ser) c.983G>C (p.Trp328Ser) c.881G>C (p.Trp294Ser) n.1332-114C>G c.1061G>C (p.Trp354Ser) c.1163G>C (p.Trp388Ser) c.1103G>C (p.Trp368Ser) n.3607-114C>G n.4043-114C>G c.986G>C (p.Trp329Ser) c.1004G>C (p.Trp335Ser) c.761G>C (p.Trp254Ser) c.794G>C (p.Trp265Ser) c.812G>C (p.Trp271Ser) | |
2 | g.127428378G>T | CA348404295 | PROC | c.818G>T (p.Trp273Leu) c.142G>T c.920G>T (p.Trp307Leu) c.1001G>T (p.Trp334Leu) c.983G>T (p.Trp328Leu) c.881G>T (p.Trp294Leu) n.1332-114C>A c.1061G>T (p.Trp354Leu) c.1163G>T (p.Trp388Leu) c.1103G>T (p.Trp368Leu) n.3607-114C>A n.4043-114C>A c.986G>T (p.Trp329Leu) c.1004G>T (p.Trp335Leu) c.761G>T (p.Trp254Leu) c.794G>T (p.Trp265Leu) c.812G>T (p.Trp271Leu) | |
2 | g.127428379G>A | CA348404301 | PROC | c.819G>A (p.Trp273Ter) c.143G>A c.921G>A (p.Trp307Ter) c.1002G>A (p.Trp334Ter) c.984G>A (p.Trp328Ter) c.882G>A (p.Trp294Ter) n.1332-115C>T c.1062G>A (p.Trp354Ter) c.1164G>A (p.Trp388Ter) c.1104G>A (p.Trp368Ter) n.3607-115C>T n.4043-115C>T c.987G>A (p.Trp329Ter) c.1005G>A (p.Trp335Ter) c.762G>A (p.Trp254Ter) c.795G>A (p.Trp265Ter) c.813G>A (p.Trp271Ter) | |
2 | g.127428379G>C | CA348404300 | PROC | c.819G>C (p.Trp273Cys) c.143G>C c.921G>C (p.Trp307Cys) c.1002G>C (p.Trp334Cys) c.984G>C (p.Trp328Cys) c.882G>C (p.Trp294Cys) n.1332-115C>G c.1062G>C (p.Trp354Cys) c.1164G>C (p.Trp388Cys) c.1104G>C (p.Trp368Cys) n.3607-115C>G n.4043-115C>G c.987G>C (p.Trp329Cys) c.1005G>C (p.Trp335Cys) c.762G>C (p.Trp254Cys) c.795G>C (p.Trp265Cys) c.813G>C (p.Trp271Cys) | |
2 | g.127428379G= | CA1286884439 | PROC | c.819G= (p.Trp273=) c.143G= c.921G= (p.Trp307=) c.1002G= (p.Trp334=) c.984G= (p.Trp328=) c.882G= (p.Trp294=) n.1332-115C= c.1062G= (p.Trp354=) c.1164G= (p.Trp388=) c.1104G= (p.Trp368=) n.3607-115C= n.4043-115C= c.987G= (p.Trp329=) c.1005G= (p.Trp335=) c.762G= (p.Trp254=) c.795G= (p.Trp265=) c.813G= (p.Trp271=) | |
2 | g.127428379G>T | CA348404298 | PROC | c.819G>T (p.Trp273Cys) c.143G>T c.921G>T (p.Trp307Cys) c.1002G>T (p.Trp334Cys) c.984G>T (p.Trp328Cys) c.882G>T (p.Trp294Cys) n.1332-115C>A c.1062G>T (p.Trp354Cys) c.1164G>T (p.Trp388Cys) c.1104G>T (p.Trp368Cys) n.3607-115C>A n.4043-115C>A c.987G>T (p.Trp329Cys) c.1005G>T (p.Trp335Cys) c.762G>T (p.Trp254Cys) c.795G>T (p.Trp265Cys) c.813G>T (p.Trp271Cys) | ClinVar dbSNP |
2 | g.127428380G>A | CA348404303 | PROC | c.820G>A (p.Glu274Lys) c.144G>A c.922G>A (p.Glu308Lys) c.1003G>A (p.Glu335Lys) c.985G>A (p.Glu329Lys) c.883G>A (p.Glu295Lys) n.1332-116C>T c.1063G>A (p.Glu355Lys) c.1165G>A (p.Glu389Lys) c.1105G>A (p.Glu369Lys) n.3607-116C>T n.4043-116C>T c.988G>A (p.Glu330Lys) c.1006G>A (p.Glu336Lys) c.763G>A (p.Glu255Lys) c.796G>A (p.Glu266Lys) c.814G>A (p.Glu272Lys) | dbSNP COSMIC COSMIC |
2 | g.127428380G>C | CA348404306 | PROC | c.820G>C (p.Glu274Gln) c.144G>C c.922G>C (p.Glu308Gln) c.1003G>C (p.Glu335Gln) c.985G>C (p.Glu329Gln) c.883G>C (p.Glu295Gln) n.1332-116C>G c.1063G>C (p.Glu355Gln) c.1165G>C (p.Glu389Gln) c.1105G>C (p.Glu369Gln) n.3607-116C>G n.4043-116C>G c.988G>C (p.Glu330Gln) c.1006G>C (p.Glu336Gln) c.763G>C (p.Glu255Gln) c.796G>C (p.Glu266Gln) c.814G>C (p.Glu272Gln) | |
2 | g.127428380G= | CA1286884440 | PROC | c.820G= (p.Glu274=) c.144G= c.922G= (p.Glu308=) c.1003G= (p.Glu335=) c.985G= (p.Glu329=) c.883G= (p.Glu295=) n.1332-116C= c.1063G= (p.Glu355=) c.1165G= (p.Glu389=) c.1105G= (p.Glu369=) n.3607-116C= n.4043-116C= c.988G= (p.Glu330=) c.1006G= (p.Glu336=) c.763G= (p.Glu255=) c.796G= (p.Glu266=) c.814G= (p.Glu272=) | |
2 | g.127428380G>T | CA1859466 | PROC | c.820G>T (p.Glu274Ter) c.144G>T c.922G>T (p.Glu308Ter) c.1003G>T (p.Glu335Ter) c.985G>T (p.Glu329Ter) c.883G>T (p.Glu295Ter) n.1332-116C>A c.1063G>T (p.Glu355Ter) c.1165G>T (p.Glu389Ter) c.1105G>T (p.Glu369Ter) n.3607-116C>A n.4043-116C>A c.988G>T (p.Glu330Ter) c.1006G>T (p.Glu336Ter) c.763G>T (p.Glu255Ter) c.796G>T (p.Glu266Ter) c.814G>T (p.Glu272Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428381A>C | CA348404308 | PROC | c.821A>C (p.Glu274Ala) c.145A>C c.923A>C (p.Glu308Ala) c.1004A>C (p.Glu335Ala) c.986A>C (p.Glu329Ala) c.884A>C (p.Glu295Ala) n.1332-117T>G c.1064A>C (p.Glu355Ala) c.1166A>C (p.Glu389Ala) c.1106A>C (p.Glu369Ala) n.3607-117T>G n.4043-117T>G c.989A>C (p.Glu330Ala) c.1007A>C (p.Glu336Ala) c.764A>C (p.Glu255Ala) c.797A>C (p.Glu266Ala) c.815A>C (p.Glu272Ala) | |
2 | g.127428381A>G | CA348404312 | PROC | c.821A>G (p.Glu274Gly) c.145A>G c.923A>G (p.Glu308Gly) c.1004A>G (p.Glu335Gly) c.986A>G (p.Glu329Gly) c.884A>G (p.Glu295Gly) n.1332-117T>C c.1064A>G (p.Glu355Gly) c.1166A>G (p.Glu389Gly) c.1106A>G (p.Glu369Gly) n.3607-117T>C n.4043-117T>C c.989A>G (p.Glu330Gly) c.1007A>G (p.Glu336Gly) c.764A>G (p.Glu255Gly) c.797A>G (p.Glu266Gly) c.815A>G (p.Glu272Gly) | gnomAD v4 |
2 | g.127428381A>T | CA348404310 | PROC | c.821A>T (p.Glu274Val) c.145A>T c.923A>T (p.Glu308Val) c.1004A>T (p.Glu335Val) c.986A>T (p.Glu329Val) c.884A>T (p.Glu295Val) n.1332-117T>A c.1064A>T (p.Glu355Val) c.1166A>T (p.Glu389Val) c.1106A>T (p.Glu369Val) n.3607-117T>A n.4043-117T>A c.989A>T (p.Glu330Val) c.1007A>T (p.Glu336Val) c.764A>T (p.Glu255Val) c.797A>T (p.Glu266Val) c.815A>T (p.Glu272Val) | |
2 | g.127428382G>A | CA428618870 | PROC | c.822G>A (p.Glu274=) c.146G>A c.924G>A (p.Glu308=) c.1005G>A (p.Glu335=) c.987G>A (p.Glu329=) c.885G>A (p.Glu295=) n.1332-118C>T c.1065G>A (p.Glu355=) c.1167G>A (p.Glu389=) c.1107G>A (p.Glu369=) n.3607-118C>T n.4043-118C>T c.990G>A (p.Glu330=) c.1008G>A (p.Glu336=) c.765G>A (p.Glu255=) c.798G>A (p.Glu266=) c.816G>A (p.Glu272=) | dbSNP |
2 | g.127428382G>C | CA348404314 | PROC | c.822G>C (p.Glu274Asp) c.146G>C c.924G>C (p.Glu308Asp) c.1005G>C (p.Glu335Asp) c.987G>C (p.Glu329Asp) c.885G>C (p.Glu295Asp) n.1332-118C>G c.1065G>C (p.Glu355Asp) c.1167G>C (p.Glu389Asp) c.1107G>C (p.Glu369Asp) n.3607-118C>G n.4043-118C>G c.990G>C (p.Glu330Asp) c.1008G>C (p.Glu336Asp) c.765G>C (p.Glu255Asp) c.798G>C (p.Glu266Asp) c.816G>C (p.Glu272Asp) | |
2 | g.127428382G= | CA1286884441 | PROC | c.822G= (p.Glu274=) c.146G= c.924G= (p.Glu308=) c.1005G= (p.Glu335=) c.987G= (p.Glu329=) c.885G= (p.Glu295=) n.1332-118C= c.1065G= (p.Glu355=) c.1167G= (p.Glu389=) c.1107G= (p.Glu369=) n.3607-118C= n.4043-118C= c.990G= (p.Glu330=) c.1008G= (p.Glu336=) c.765G= (p.Glu255=) c.798G= (p.Glu266=) c.816G= (p.Glu272=) | |
2 | g.127428382G>T | CA348404315 | PROC | c.822G>T (p.Glu274Asp) c.146G>T c.924G>T (p.Glu308Asp) c.1005G>T (p.Glu335Asp) c.987G>T (p.Glu329Asp) c.885G>T (p.Glu295Asp) n.1332-118C>A c.1065G>T (p.Glu355Asp) c.1167G>T (p.Glu389Asp) c.1107G>T (p.Glu369Asp) n.3607-118C>A n.4043-118C>A c.990G>T (p.Glu330Asp) c.1008G>T (p.Glu336Asp) c.765G>T (p.Glu255Asp) c.798G>T (p.Glu266Asp) c.816G>T (p.Glu272Asp) | |
2 | g.127428383A>C | CA348404318 | PROC | c.823A>C (p.Lys275Gln) c.147A>C c.925A>C (p.Lys309Gln) c.1006A>C (p.Lys336Gln) c.988A>C (p.Lys330Gln) c.886A>C (p.Lys296Gln) n.1332-119T>G c.1066A>C (p.Lys356Gln) c.1168A>C (p.Lys390Gln) c.1108A>C (p.Lys370Gln) n.3607-119T>G n.4043-119T>G c.991A>C (p.Lys331Gln) c.1009A>C (p.Lys337Gln) c.766A>C (p.Lys256Gln) c.799A>C (p.Lys267Gln) c.817A>C (p.Lys273Gln) | |
2 | g.127428383A>G | CA348404320 | PROC | c.823A>G (p.Lys275Glu) c.147A>G c.925A>G (p.Lys309Glu) c.1006A>G (p.Lys336Glu) c.988A>G (p.Lys330Glu) c.886A>G (p.Lys296Glu) n.1332-119T>C c.1066A>G (p.Lys356Glu) c.1168A>G (p.Lys390Glu) c.1108A>G (p.Lys370Glu) n.3607-119T>C n.4043-119T>C c.991A>G (p.Lys331Glu) c.1009A>G (p.Lys337Glu) c.766A>G (p.Lys256Glu) c.799A>G (p.Lys267Glu) c.817A>G (p.Lys273Glu) | |
2 | g.127428383A>T | CA348404321 | PROC | c.823A>T (p.Lys275Ter) c.147A>T c.925A>T (p.Lys309Ter) c.1006A>T (p.Lys336Ter) c.988A>T (p.Lys330Ter) c.886A>T (p.Lys296Ter) n.1332-119T>A c.1066A>T (p.Lys356Ter) c.1168A>T (p.Lys390Ter) c.1108A>T (p.Lys370Ter) n.3607-119T>A n.4043-119T>A c.991A>T (p.Lys331Ter) c.1009A>T (p.Lys337Ter) c.766A>T (p.Lys256Ter) c.799A>T (p.Lys267Ter) c.817A>T (p.Lys273Ter) | |
2 | g.127428384A>C | CA348404322 | PROC | c.824A>C (p.Lys275Thr) c.148A>C c.926A>C (p.Lys309Thr) c.1007A>C (p.Lys336Thr) c.989A>C (p.Lys330Thr) c.887A>C (p.Lys296Thr) n.1332-120T>G c.1067A>C (p.Lys356Thr) c.1169A>C (p.Lys390Thr) c.1109A>C (p.Lys370Thr) n.3607-120T>G n.4043-120T>G c.992A>C (p.Lys331Thr) c.1010A>C (p.Lys337Thr) c.767A>C (p.Lys256Thr) c.800A>C (p.Lys267Thr) c.818A>C (p.Lys273Thr) | gnomAD v4 |
2 | g.127428384A>G | CA348404324 | PROC | c.824A>G (p.Lys275Arg) c.148A>G c.926A>G (p.Lys309Arg) c.1007A>G (p.Lys336Arg) c.989A>G (p.Lys330Arg) c.887A>G (p.Lys296Arg) n.1332-120T>C c.1067A>G (p.Lys356Arg) c.1169A>G (p.Lys390Arg) c.1109A>G (p.Lys370Arg) n.3607-120T>C n.4043-120T>C c.992A>G (p.Lys331Arg) c.1010A>G (p.Lys337Arg) c.767A>G (p.Lys256Arg) c.800A>G (p.Lys267Arg) c.818A>G (p.Lys273Arg) | |
2 | g.127428384A>T | CA348404326 | PROC | c.824A>T (p.Lys275Met) c.148A>T c.926A>T (p.Lys309Met) c.1007A>T (p.Lys336Met) c.989A>T (p.Lys330Met) c.887A>T (p.Lys296Met) n.1332-120T>A c.1067A>T (p.Lys356Met) c.1169A>T (p.Lys390Met) c.1109A>T (p.Lys370Met) n.3607-120T>A n.4043-120T>A c.992A>T (p.Lys331Met) c.1010A>T (p.Lys337Met) c.767A>T (p.Lys256Met) c.800A>T (p.Lys267Met) c.818A>T (p.Lys273Met) | |
2 | g.127428385G>A | CA1859467 | PROC | c.825G>A (p.Lys275=) c.149G>A c.927G>A (p.Lys309=) c.1008G>A (p.Lys336=) c.990G>A (p.Lys330=) c.888G>A (p.Lys296=) n.1332-121C>T c.1068G>A (p.Lys356=) c.1170G>A (p.Lys390=) c.1110G>A (p.Lys370=) n.3607-121C>T n.4043-121C>T c.993G>A (p.Lys331=) c.1011G>A (p.Lys337=) c.768G>A (p.Lys256=) c.801G>A (p.Lys267=) c.819G>A (p.Lys273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428385G>C | CA55350579 | PROC | c.825G>C (p.Lys275Asn) c.149G>C c.927G>C (p.Lys309Asn) c.1008G>C (p.Lys336Asn) c.990G>C (p.Lys330Asn) c.888G>C (p.Lys296Asn) n.1332-121C>G c.1068G>C (p.Lys356Asn) c.1170G>C (p.Lys390Asn) c.1110G>C (p.Lys370Asn) n.3607-121C>G n.4043-121C>G c.993G>C (p.Lys331Asn) c.1011G>C (p.Lys337Asn) c.768G>C (p.Lys256Asn) c.801G>C (p.Lys267Asn) c.819G>C (p.Lys273Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428385G= | CA1286884442 | PROC | c.825G= (p.Lys275=) c.149G= c.927G= (p.Lys309=) c.1008G= (p.Lys336=) c.990G= (p.Lys330=) c.888G= (p.Lys296=) n.1332-121C= c.1068G= (p.Lys356=) c.1170G= (p.Lys390=) c.1110G= (p.Lys370=) n.3607-121C= n.4043-121C= c.993G= (p.Lys331=) c.1011G= (p.Lys337=) c.768G= (p.Lys256=) c.801G= (p.Lys267=) c.819G= (p.Lys273=) | |
2 | g.127428385G>T | CA348404330 | PROC | c.825G>T (p.Lys275Asn) c.149G>T c.927G>T (p.Lys309Asn) c.1008G>T (p.Lys336Asn) c.990G>T (p.Lys330Asn) c.888G>T (p.Lys296Asn) n.1332-121C>A c.1068G>T (p.Lys356Asn) c.1170G>T (p.Lys390Asn) c.1110G>T (p.Lys370Asn) n.3607-121C>A n.4043-121C>A c.993G>T (p.Lys331Asn) c.1011G>T (p.Lys337Asn) c.768G>T (p.Lys256Asn) c.801G>T (p.Lys267Asn) c.819G>T (p.Lys273Asn) | |
2 | g.127428386T>A | CA348404332 | PROC | c.826T>A (p.Trp276Arg) c.150T>A c.928T>A (p.Trp310Arg) c.1009T>A (p.Trp337Arg) c.991T>A (p.Trp331Arg) c.889T>A (p.Trp297Arg) n.1332-122A>T c.1069T>A (p.Trp357Arg) c.1171T>A (p.Trp391Arg) c.1111T>A (p.Trp371Arg) n.3607-122A>T n.4043-122A>T c.994T>A (p.Trp332Arg) c.1012T>A (p.Trp338Arg) c.769T>A (p.Trp257Arg) c.802T>A (p.Trp268Arg) c.820T>A (p.Trp274Arg) | |
2 | g.127428386T>C | CA348404336 | PROC | c.826T>C (p.Trp276Arg) c.150T>C c.928T>C (p.Trp310Arg) c.1009T>C (p.Trp337Arg) c.991T>C (p.Trp331Arg) c.889T>C (p.Trp297Arg) n.1332-122A>G c.1069T>C (p.Trp357Arg) c.1171T>C (p.Trp391Arg) c.1111T>C (p.Trp371Arg) n.3607-122A>G n.4043-122A>G c.994T>C (p.Trp332Arg) c.1012T>C (p.Trp338Arg) c.769T>C (p.Trp257Arg) c.802T>C (p.Trp268Arg) c.820T>C (p.Trp274Arg) | |
2 | g.127428386T>G | CA348404334 | PROC | c.826T>G (p.Trp276Gly) c.150T>G c.928T>G (p.Trp310Gly) c.1009T>G (p.Trp337Gly) c.991T>G (p.Trp331Gly) c.889T>G (p.Trp297Gly) n.1332-122A>C c.1069T>G (p.Trp357Gly) c.1171T>G (p.Trp391Gly) c.1111T>G (p.Trp371Gly) n.3607-122A>C n.4043-122A>C c.994T>G (p.Trp332Gly) c.1012T>G (p.Trp338Gly) c.769T>G (p.Trp257Gly) c.802T>G (p.Trp268Gly) c.820T>G (p.Trp274Gly) | dbSNP gnomAD v4 |
2 | g.127428386T= | CA1286884443 | PROC | c.826T= (p.Trp276=) c.150T= c.928T= (p.Trp310=) c.1009T= (p.Trp337=) c.991T= (p.Trp331=) c.889T= (p.Trp297=) n.1332-122A= c.1069T= (p.Trp357=) c.1171T= (p.Trp391=) c.1111T= (p.Trp371=) n.3607-122A= n.4043-122A= c.994T= (p.Trp332=) c.1012T= (p.Trp338=) c.769T= (p.Trp257=) c.802T= (p.Trp268=) c.820T= (p.Trp274=) | |
2 | g.127428387G>A | CA348404338 | PROC | c.827G>A (p.Trp276Ter) c.151G>A c.929G>A (p.Trp310Ter) c.1010G>A (p.Trp337Ter) c.992G>A (p.Trp331Ter) c.890G>A (p.Trp297Ter) n.1332-123C>T c.1070G>A (p.Trp357Ter) c.1172G>A (p.Trp391Ter) c.1112G>A (p.Trp371Ter) n.3607-123C>T n.4043-123C>T c.995G>A (p.Trp332Ter) c.1013G>A (p.Trp338Ter) c.770G>A (p.Trp257Ter) c.803G>A (p.Trp268Ter) c.821G>A (p.Trp274Ter) | |
2 | g.127428387G>C | CA348404339 | PROC | c.827G>C (p.Trp276Ser) c.151G>C c.929G>C (p.Trp310Ser) c.1010G>C (p.Trp337Ser) c.992G>C (p.Trp331Ser) c.890G>C (p.Trp297Ser) n.1332-123C>G c.1070G>C (p.Trp357Ser) c.1172G>C (p.Trp391Ser) c.1112G>C (p.Trp371Ser) n.3607-123C>G n.4043-123C>G c.995G>C (p.Trp332Ser) c.1013G>C (p.Trp338Ser) c.770G>C (p.Trp257Ser) c.803G>C (p.Trp268Ser) c.821G>C (p.Trp274Ser) | |
2 | g.127428387G>T | CA348404342 | PROC | c.827G>T (p.Trp276Leu) c.151G>T c.929G>T (p.Trp310Leu) c.1010G>T (p.Trp337Leu) c.992G>T (p.Trp331Leu) c.890G>T (p.Trp297Leu) n.1332-123C>A c.1070G>T (p.Trp357Leu) c.1172G>T (p.Trp391Leu) c.1112G>T (p.Trp371Leu) n.3607-123C>A n.4043-123C>A c.995G>T (p.Trp332Leu) c.1013G>T (p.Trp338Leu) c.770G>T (p.Trp257Leu) c.803G>T (p.Trp268Leu) c.821G>T (p.Trp274Leu) | |
2 | g.127428388G>A | CA348404344 | PROC | c.828G>A (p.Trp276Ter) c.152G>A c.930G>A (p.Trp310Ter) c.1011G>A (p.Trp337Ter) c.993G>A (p.Trp331Ter) c.891G>A (p.Trp297Ter) n.1332-124C>T c.1071G>A (p.Trp357Ter) c.1173G>A (p.Trp391Ter) c.1113G>A (p.Trp371Ter) n.3607-124C>T n.4043-124C>T c.996G>A (p.Trp332Ter) c.1014G>A (p.Trp338Ter) c.771G>A (p.Trp257Ter) c.804G>A (p.Trp268Ter) c.822G>A (p.Trp274Ter) | |
2 | g.127428388G>C | CA348404345 | PROC | c.828G>C (p.Trp276Cys) c.152G>C c.930G>C (p.Trp310Cys) c.1011G>C (p.Trp337Cys) c.993G>C (p.Trp331Cys) c.891G>C (p.Trp297Cys) n.1332-124C>G c.1071G>C (p.Trp357Cys) c.1173G>C (p.Trp391Cys) c.1113G>C (p.Trp371Cys) n.3607-124C>G n.4043-124C>G c.996G>C (p.Trp332Cys) c.1014G>C (p.Trp338Cys) c.771G>C (p.Trp257Cys) c.804G>C (p.Trp268Cys) c.822G>C (p.Trp274Cys) | |
2 | g.127428388G>T | CA348404348 | PROC | c.828G>T (p.Trp276Cys) c.152G>T c.930G>T (p.Trp310Cys) c.1011G>T (p.Trp337Cys) c.993G>T (p.Trp331Cys) c.891G>T (p.Trp297Cys) n.1332-124C>A c.1071G>T (p.Trp357Cys) c.1173G>T (p.Trp391Cys) c.1113G>T (p.Trp371Cys) n.3607-124C>A n.4043-124C>A c.996G>T (p.Trp332Cys) c.1014G>T (p.Trp338Cys) c.771G>T (p.Trp257Cys) c.804G>T (p.Trp268Cys) c.822G>T (p.Trp274Cys) | |
2 | g.127428389G>A | CA348404350 | PROC | c.829G>A (p.Glu277Lys) c.153G>A c.931G>A (p.Glu311Lys) c.1012G>A (p.Glu338Lys) c.994G>A (p.Glu332Lys) c.892G>A (p.Glu298Lys) n.1332-125C>T c.1072G>A (p.Glu358Lys) c.1174G>A (p.Glu392Lys) c.1114G>A (p.Glu372Lys) n.3607-125C>T n.4043-125C>T c.997G>A (p.Glu333Lys) c.1015G>A (p.Glu339Lys) c.772G>A (p.Glu258Lys) c.805G>A (p.Glu269Lys) c.823G>A (p.Glu275Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428389G>C | CA348404352 | PROC | c.829G>C (p.Glu277Gln) c.153G>C c.931G>C (p.Glu311Gln) c.1012G>C (p.Glu338Gln) c.994G>C (p.Glu332Gln) c.892G>C (p.Glu298Gln) n.1332-125C>G c.1072G>C (p.Glu358Gln) c.1174G>C (p.Glu392Gln) c.1114G>C (p.Glu372Gln) n.3607-125C>G n.4043-125C>G c.997G>C (p.Glu333Gln) c.1015G>C (p.Glu339Gln) c.772G>C (p.Glu258Gln) c.805G>C (p.Glu269Gln) c.823G>C (p.Glu275Gln) | |
2 | g.127428389G= | CA1286884444 | PROC | c.829G= (p.Glu277=) c.153G= c.931G= (p.Glu311=) c.1012G= (p.Glu338=) c.994G= (p.Glu332=) c.892G= (p.Glu298=) n.1332-125C= c.1072G= (p.Glu358=) c.1174G= (p.Glu392=) c.1114G= (p.Glu372=) n.3607-125C= n.4043-125C= c.997G= (p.Glu333=) c.1015G= (p.Glu339=) c.772G= (p.Glu258=) c.805G= (p.Glu269=) c.823G= (p.Glu275=) | |
2 | g.127428389G>T | CA348404354 | PROC | c.829G>T (p.Glu277Ter) c.153G>T c.931G>T (p.Glu311Ter) c.1012G>T (p.Glu338Ter) c.994G>T (p.Glu332Ter) c.892G>T (p.Glu298Ter) n.1332-125C>A c.1072G>T (p.Glu358Ter) c.1174G>T (p.Glu392Ter) c.1114G>T (p.Glu372Ter) n.3607-125C>A n.4043-125C>A c.997G>T (p.Glu333Ter) c.1015G>T (p.Glu339Ter) c.772G>T (p.Glu258Ter) c.805G>T (p.Glu269Ter) c.823G>T (p.Glu275Ter) | |
2 | g.127428390A>C | CA348404358 | PROC | c.830A>C (p.Glu277Ala) c.154A>C c.932A>C (p.Glu311Ala) c.1013A>C (p.Glu338Ala) c.995A>C (p.Glu332Ala) c.893A>C (p.Glu298Ala) n.1332-126T>G c.1073A>C (p.Glu358Ala) c.1175A>C (p.Glu392Ala) c.1115A>C (p.Glu372Ala) n.3607-126T>G n.4043-126T>G c.998A>C (p.Glu333Ala) c.1016A>C (p.Glu339Ala) c.773A>C (p.Glu258Ala) c.806A>C (p.Glu269Ala) c.824A>C (p.Glu275Ala) | |
2 | g.127428390A>G | CA348404360 | PROC | c.830A>G (p.Glu277Gly) c.154A>G c.932A>G (p.Glu311Gly) c.1013A>G (p.Glu338Gly) c.995A>G (p.Glu332Gly) c.893A>G (p.Glu298Gly) n.1332-126T>C c.1073A>G (p.Glu358Gly) c.1175A>G (p.Glu392Gly) c.1115A>G (p.Glu372Gly) n.3607-126T>C n.4043-126T>C c.998A>G (p.Glu333Gly) c.1016A>G (p.Glu339Gly) c.773A>G (p.Glu258Gly) c.806A>G (p.Glu269Gly) c.824A>G (p.Glu275Gly) | |
2 | g.127428390A>T | CA348404356 | PROC | c.830A>T (p.Glu277Val) c.154A>T c.932A>T (p.Glu311Val) c.1013A>T (p.Glu338Val) c.995A>T (p.Glu332Val) c.893A>T (p.Glu298Val) n.1332-126T>A c.1073A>T (p.Glu358Val) c.1175A>T (p.Glu392Val) c.1115A>T (p.Glu372Val) n.3607-126T>A n.4043-126T>A c.998A>T (p.Glu333Val) c.1016A>T (p.Glu339Val) c.773A>T (p.Glu258Val) c.806A>T (p.Glu269Val) c.824A>T (p.Glu275Val) | |
2 | g.127428391G>A | CA428618872 | PROC | c.831G>A (p.Glu277=) c.155G>A c.933G>A (p.Glu311=) c.1014G>A (p.Glu338=) c.996G>A (p.Glu332=) c.894G>A (p.Glu298=) n.1332-127C>T c.1074G>A (p.Glu358=) c.1176G>A (p.Glu392=) c.1116G>A (p.Glu372=) n.3607-127C>T n.4043-127C>T c.999G>A (p.Glu333=) c.1017G>A (p.Glu339=) c.774G>A (p.Glu258=) c.807G>A (p.Glu269=) c.825G>A (p.Glu275=) | gnomAD v4 |
2 | g.127428391G>C | CA348404361 | PROC | c.831G>C (p.Glu277Asp) c.155G>C c.933G>C (p.Glu311Asp) c.1014G>C (p.Glu338Asp) c.996G>C (p.Glu332Asp) c.894G>C (p.Glu298Asp) n.1332-127C>G c.1074G>C (p.Glu358Asp) c.1176G>C (p.Glu392Asp) c.1116G>C (p.Glu372Asp) n.3607-127C>G n.4043-127C>G c.999G>C (p.Glu333Asp) c.1017G>C (p.Glu339Asp) c.774G>C (p.Glu258Asp) c.807G>C (p.Glu269Asp) c.825G>C (p.Glu275Asp) | |
2 | g.127428391G>T | CA348404363 | PROC | c.831G>T (p.Glu277Asp) c.155G>T c.933G>T (p.Glu311Asp) c.1014G>T (p.Glu338Asp) c.996G>T (p.Glu332Asp) c.894G>T (p.Glu298Asp) n.1332-127C>A c.1074G>T (p.Glu358Asp) c.1176G>T (p.Glu392Asp) c.1116G>T (p.Glu372Asp) n.3607-127C>A n.4043-127C>A c.999G>T (p.Glu333Asp) c.1017G>T (p.Glu339Asp) c.774G>T (p.Glu258Asp) c.807G>T (p.Glu269Asp) c.825G>T (p.Glu275Asp) | |
2 | g.127428392C>A | CA348404365 | PROC | c.832C>A (p.Leu278Met) c.156C>A c.934C>A (p.Leu312Met) c.1015C>A (p.Leu339Met) c.997C>A (p.Leu333Met) c.895C>A (p.Leu299Met) n.1332-128G>T c.1075C>A (p.Leu359Met) c.1177C>A (p.Leu393Met) c.1117C>A (p.Leu373Met) n.3607-128G>T n.4043-128G>T c.1000C>A (p.Leu334Met) c.1018C>A (p.Leu340Met) c.775C>A (p.Leu259Met) c.808C>A (p.Leu270Met) c.826C>A (p.Leu276Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428392C= | CA1286884445 | PROC | c.832C= (p.Leu278=) c.156C= c.934C= (p.Leu312=) c.1015C= (p.Leu339=) c.997C= (p.Leu333=) c.895C= (p.Leu299=) n.1332-128G= c.1075C= (p.Leu359=) c.1177C= (p.Leu393=) c.1117C= (p.Leu373=) n.3607-128G= n.4043-128G= c.1000C= (p.Leu334=) c.1018C= (p.Leu340=) c.775C= (p.Leu259=) c.808C= (p.Leu270=) c.826C= (p.Leu276=) | |
2 | g.127428392C>G | CA1859468 | PROC | c.832C>G (p.Leu278Val) c.156C>G c.934C>G (p.Leu312Val) c.1015C>G (p.Leu339Val) c.997C>G (p.Leu333Val) c.895C>G (p.Leu299Val) n.1332-128G>C c.1075C>G (p.Leu359Val) c.1177C>G (p.Leu393Val) c.1117C>G (p.Leu373Val) n.3607-128G>C n.4043-128G>C c.1000C>G (p.Leu334Val) c.1018C>G (p.Leu340Val) c.775C>G (p.Leu259Val) c.808C>G (p.Leu270Val) c.826C>G (p.Leu276Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428392C>T | CA428618873 | PROC | c.832C>T (p.Leu278=) c.156C>T c.934C>T (p.Leu312=) c.1015C>T (p.Leu339=) c.997C>T (p.Leu333=) c.895C>T (p.Leu299=) n.1332-128G>A c.1075C>T (p.Leu359=) c.1177C>T (p.Leu393=) c.1117C>T (p.Leu373=) n.3607-128G>A n.4043-128G>A c.1000C>T (p.Leu334=) c.1018C>T (p.Leu340=) c.775C>T (p.Leu259=) c.808C>T (p.Leu270=) c.826C>T (p.Leu276=) | |
2 | g.127428398_127428403dup | CA2586969905 | PROC | c.838_843dup (p.Asp281_Ile282insLeuAsp) c.162_167dup c.940_945dup (p.Asp315_Ile316insLeuAsp) c.1021_1026dup (p.Asp342_Ile343insLeuAsp) c.1003_1008dup (p.Asp336_Ile337insLeuAsp) c.901_906dup (p.Asp302_Ile303insLeuAsp) n.1332-133_1332-128dup c.1081_1086dup (p.Asp362_Ile363insLeuAsp) c.1183_1188dup (p.Asp396_Ile397insLeuAsp) c.1123_1128dup (p.Asp376_Ile377insLeuAsp) n.3607-133_3607-128dup n.4043-133_4043-128dup c.1006_1011dup (p.Asp337_Ile338insLeuAsp) c.1024_1029dup (p.Asp343_Ile344insLeuAsp) c.781_786dup (p.Asp262_Ile263insLeuAsp) c.814_819dup (p.Asp273_Ile274insLeuAsp) c.832_837dup (p.Asp279_Ile280insLeuAsp) | |
2 | g.127428393T>A | CA348404369 | PROC | c.833T>A (p.Leu278Gln) c.157T>A c.935T>A (p.Leu312Gln) c.1016T>A (p.Leu339Gln) c.998T>A (p.Leu333Gln) c.896T>A (p.Leu299Gln) n.1332-129A>T c.1076T>A (p.Leu359Gln) c.1178T>A (p.Leu393Gln) c.1118T>A (p.Leu373Gln) n.3607-129A>T n.4043-129A>T c.1001T>A (p.Leu334Gln) c.1019T>A (p.Leu340Gln) c.776T>A (p.Leu259Gln) c.809T>A (p.Leu270Gln) c.827T>A (p.Leu276Gln) | |
2 | g.127428393T>C | CA348404371 | PROC | c.833T>C (p.Leu278Pro) c.157T>C c.935T>C (p.Leu312Pro) c.1016T>C (p.Leu339Pro) c.998T>C (p.Leu333Pro) c.896T>C (p.Leu299Pro) n.1332-129A>G c.1076T>C (p.Leu359Pro) c.1178T>C (p.Leu393Pro) c.1118T>C (p.Leu373Pro) n.3607-129A>G n.4043-129A>G c.1001T>C (p.Leu334Pro) c.1019T>C (p.Leu340Pro) c.776T>C (p.Leu259Pro) c.809T>C (p.Leu270Pro) c.827T>C (p.Leu276Pro) | |
2 | g.127428393T>G | CA348404372 | PROC | c.833T>G (p.Leu278Arg) c.157T>G c.935T>G (p.Leu312Arg) c.1016T>G (p.Leu339Arg) c.998T>G (p.Leu333Arg) c.896T>G (p.Leu299Arg) n.1332-129A>C c.1076T>G (p.Leu359Arg) c.1178T>G (p.Leu393Arg) c.1118T>G (p.Leu373Arg) n.3607-129A>C n.4043-129A>C c.1001T>G (p.Leu334Arg) c.1019T>G (p.Leu340Arg) c.776T>G (p.Leu259Arg) c.809T>G (p.Leu270Arg) c.827T>G (p.Leu276Arg) | |
2 | g.127428394G>A | CA55350582 | PROC | c.834G>A (p.Leu278=) c.158G>A c.936G>A (p.Leu312=) c.1017G>A (p.Leu339=) c.999G>A (p.Leu333=) c.897G>A (p.Leu299=) n.1332-130C>T c.1077G>A (p.Leu359=) c.1179G>A (p.Leu393=) c.1119G>A (p.Leu373=) n.3607-130C>T n.4043-130C>T c.1002G>A (p.Leu334=) c.1020G>A (p.Leu340=) c.777G>A (p.Leu259=) c.810G>A (p.Leu270=) c.828G>A (p.Leu276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428394G>C | CA428618876 | PROC | c.834G>C (p.Leu278=) c.158G>C c.936G>C (p.Leu312=) c.1017G>C (p.Leu339=) c.999G>C (p.Leu333=) c.897G>C (p.Leu299=) n.1332-130C>G c.1077G>C (p.Leu359=) c.1179G>C (p.Leu393=) c.1119G>C (p.Leu373=) n.3607-130C>G n.4043-130C>G c.1002G>C (p.Leu334=) c.1020G>C (p.Leu340=) c.777G>C (p.Leu259=) c.810G>C (p.Leu270=) c.828G>C (p.Leu276=) | |
2 | g.127428394G= | CA1286884446 | PROC | c.834G= (p.Leu278=) c.158G= c.936G= (p.Leu312=) c.1017G= (p.Leu339=) c.999G= (p.Leu333=) c.897G= (p.Leu299=) n.1332-130C= c.1077G= (p.Leu359=) c.1179G= (p.Leu393=) c.1119G= (p.Leu373=) n.3607-130C= n.4043-130C= c.1002G= (p.Leu334=) c.1020G= (p.Leu340=) c.777G= (p.Leu259=) c.810G= (p.Leu270=) c.828G= (p.Leu276=) | |
2 | g.127428394G>T | CA428618875 | PROC | c.834G>T (p.Leu278=) c.158G>T c.936G>T (p.Leu312=) c.1017G>T (p.Leu339=) c.999G>T (p.Leu333=) c.897G>T (p.Leu299=) n.1332-130C>A c.1077G>T (p.Leu359=) c.1179G>T (p.Leu393=) c.1119G>T (p.Leu373=) n.3607-130C>A n.4043-130C>A c.1002G>T (p.Leu334=) c.1020G>T (p.Leu340=) c.777G>T (p.Leu259=) c.810G>T (p.Leu270=) c.828G>T (p.Leu276=) | |
2 | g.127428395G>A | CA348404376 | PROC | c.835G>A (p.Asp279Asn) c.159G>A c.937G>A (p.Asp313Asn) c.1018G>A (p.Asp340Asn) c.1000G>A (p.Asp334Asn) c.898G>A (p.Asp300Asn) n.1332-131C>T c.1078G>A (p.Asp360Asn) c.1180G>A (p.Asp394Asn) c.1120G>A (p.Asp374Asn) n.3607-131C>T n.4043-131C>T c.1003G>A (p.Asp335Asn) c.1021G>A (p.Asp341Asn) c.778G>A (p.Asp260Asn) c.811G>A (p.Asp271Asn) c.829G>A (p.Asp277Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428395G>C | CA348404378 | PROC | c.835G>C (p.Asp279His) c.159G>C c.937G>C (p.Asp313His) c.1018G>C (p.Asp340His) c.1000G>C (p.Asp334His) c.898G>C (p.Asp300His) n.1332-131C>G c.1078G>C (p.Asp360His) c.1180G>C (p.Asp394His) c.1120G>C (p.Asp374His) n.3607-131C>G n.4043-131C>G c.1003G>C (p.Asp335His) c.1021G>C (p.Asp341His) c.778G>C (p.Asp260His) c.811G>C (p.Asp271His) c.829G>C (p.Asp277His) | |
2 | g.127428395G= | CA1286884447 | PROC | c.835G= (p.Asp279=) c.159G= c.937G= (p.Asp313=) c.1018G= (p.Asp340=) c.1000G= (p.Asp334=) c.898G= (p.Asp300=) n.1332-131C= c.1078G= (p.Asp360=) c.1180G= (p.Asp394=) c.1120G= (p.Asp374=) n.3607-131C= n.4043-131C= c.1003G= (p.Asp335=) c.1021G= (p.Asp341=) c.778G= (p.Asp260=) c.811G= (p.Asp271=) c.829G= (p.Asp277=) | |
2 | g.127428395G>T | CA348404380 | PROC | c.835G>T (p.Asp279Tyr) c.159G>T c.937G>T (p.Asp313Tyr) c.1018G>T (p.Asp340Tyr) c.1000G>T (p.Asp334Tyr) c.898G>T (p.Asp300Tyr) n.1332-131C>A c.1078G>T (p.Asp360Tyr) c.1180G>T (p.Asp394Tyr) c.1120G>T (p.Asp374Tyr) n.3607-131C>A n.4043-131C>A c.1003G>T (p.Asp335Tyr) c.1021G>T (p.Asp341Tyr) c.778G>T (p.Asp260Tyr) c.811G>T (p.Asp271Tyr) c.829G>T (p.Asp277Tyr) | |
2 | g.127428396A>C | CA348404384 | PROC | c.836A>C (p.Asp279Ala) c.160A>C c.938A>C (p.Asp313Ala) c.1019A>C (p.Asp340Ala) c.1001A>C (p.Asp334Ala) c.899A>C (p.Asp300Ala) n.1332-132T>G c.1079A>C (p.Asp360Ala) c.1181A>C (p.Asp394Ala) c.1121A>C (p.Asp374Ala) n.3607-132T>G n.4043-132T>G c.1004A>C (p.Asp335Ala) c.1022A>C (p.Asp341Ala) c.779A>C (p.Asp260Ala) c.812A>C (p.Asp271Ala) c.830A>C (p.Asp277Ala) | |
2 | g.127428396A>G | CA348404386 | PROC | c.836A>G (p.Asp279Gly) c.160A>G c.938A>G (p.Asp313Gly) c.1019A>G (p.Asp340Gly) c.1001A>G (p.Asp334Gly) c.899A>G (p.Asp300Gly) n.1332-132T>C c.1079A>G (p.Asp360Gly) c.1181A>G (p.Asp394Gly) c.1121A>G (p.Asp374Gly) n.3607-132T>C n.4043-132T>C c.1004A>G (p.Asp335Gly) c.1022A>G (p.Asp341Gly) c.779A>G (p.Asp260Gly) c.812A>G (p.Asp271Gly) c.830A>G (p.Asp277Gly) | |
2 | g.127428396A>T | CA348404382 | PROC | c.836A>T (p.Asp279Val) c.160A>T c.938A>T (p.Asp313Val) c.1019A>T (p.Asp340Val) c.1001A>T (p.Asp334Val) c.899A>T (p.Asp300Val) n.1332-132T>A c.1079A>T (p.Asp360Val) c.1181A>T (p.Asp394Val) c.1121A>T (p.Asp374Val) n.3607-132T>A n.4043-132T>A c.1004A>T (p.Asp335Val) c.1022A>T (p.Asp341Val) c.779A>T (p.Asp260Val) c.812A>T (p.Asp271Val) c.830A>T (p.Asp277Val) | |
2 | g.127428397C>A | CA348404388 | PROC | c.837C>A (p.Asp279Glu) c.161C>A c.939C>A (p.Asp313Glu) c.1020C>A (p.Asp340Glu) c.1002C>A (p.Asp334Glu) c.900C>A (p.Asp300Glu) n.1332-133G>T c.1080C>A (p.Asp360Glu) c.1182C>A (p.Asp394Glu) c.1122C>A (p.Asp374Glu) n.3607-133G>T n.4043-133G>T c.1005C>A (p.Asp335Glu) c.1023C>A (p.Asp341Glu) c.780C>A (p.Asp260Glu) c.813C>A (p.Asp271Glu) c.831C>A (p.Asp277Glu) | ClinVar gnomAD v4 COSMIC |
2 | g.127428397C= | CA1286884448 | PROC | c.837C= (p.Asp279=) c.161C= c.939C= (p.Asp313=) c.1020C= (p.Asp340=) c.1002C= (p.Asp334=) c.900C= (p.Asp300=) n.1332-133G= c.1080C= (p.Asp360=) c.1182C= (p.Asp394=) c.1122C= (p.Asp374=) n.3607-133G= n.4043-133G= c.1005C= (p.Asp335=) c.1023C= (p.Asp341=) c.780C= (p.Asp260=) c.813C= (p.Asp271=) c.831C= (p.Asp277=) | |
2 | g.127428397C>G | CA348404390 | PROC | c.837C>G (p.Asp279Glu) c.161C>G c.939C>G (p.Asp313Glu) c.1020C>G (p.Asp340Glu) c.1002C>G (p.Asp334Glu) c.900C>G (p.Asp300Glu) n.1332-133G>C c.1080C>G (p.Asp360Glu) c.1182C>G (p.Asp394Glu) c.1122C>G (p.Asp374Glu) n.3607-133G>C n.4043-133G>C c.1005C>G (p.Asp335Glu) c.1023C>G (p.Asp341Glu) c.780C>G (p.Asp260Glu) c.813C>G (p.Asp271Glu) c.831C>G (p.Asp277Glu) | |
2 | g.127428397C>T | CA1859469 | PROC | c.837C>T (p.Asp279=) c.161C>T c.939C>T (p.Asp313=) c.1020C>T (p.Asp340=) c.1002C>T (p.Asp334=) c.900C>T (p.Asp300=) n.1332-133G>A c.1080C>T (p.Asp360=) c.1182C>T (p.Asp394=) c.1122C>T (p.Asp374=) n.3607-133G>A n.4043-133G>A c.1005C>T (p.Asp335=) c.1023C>T (p.Asp341=) c.780C>T (p.Asp260=) c.813C>T (p.Asp271=) c.831C>T (p.Asp277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428398C>A | CA348404393 | PROC | c.838C>A (p.Leu280Met) c.162C>A c.940C>A (p.Leu314Met) c.1021C>A (p.Leu341Met) c.1003C>A (p.Leu335Met) c.901C>A (p.Leu301Met) n.1332-134G>T c.1081C>A (p.Leu361Met) c.1183C>A (p.Leu395Met) c.1123C>A (p.Leu375Met) n.3607-134G>T n.4043-134G>T c.1006C>A (p.Leu336Met) c.1024C>A (p.Leu342Met) c.781C>A (p.Leu261Met) c.814C>A (p.Leu272Met) c.832C>A (p.Leu278Met) | |
2 | g.127428398C>G | CA348404394 | PROC | c.838C>G (p.Leu280Val) c.162C>G c.940C>G (p.Leu314Val) c.1021C>G (p.Leu341Val) c.1003C>G (p.Leu335Val) c.901C>G (p.Leu301Val) n.1332-134G>C c.1081C>G (p.Leu361Val) c.1183C>G (p.Leu395Val) c.1123C>G (p.Leu375Val) n.3607-134G>C n.4043-134G>C c.1006C>G (p.Leu336Val) c.1024C>G (p.Leu342Val) c.781C>G (p.Leu261Val) c.814C>G (p.Leu272Val) c.832C>G (p.Leu278Val) | gnomAD v4 |
2 | g.127428398C>T | CA428618879 | PROC | c.838C>T (p.Leu280=) c.162C>T c.940C>T (p.Leu314=) c.1021C>T (p.Leu341=) c.1003C>T (p.Leu335=) c.901C>T (p.Leu301=) n.1332-134G>A c.1081C>T (p.Leu361=) c.1183C>T (p.Leu395=) c.1123C>T (p.Leu375=) n.3607-134G>A n.4043-134G>A c.1006C>T (p.Leu336=) c.1024C>T (p.Leu342=) c.781C>T (p.Leu261=) c.814C>T (p.Leu272=) c.832C>T (p.Leu278=) | |
2 | g.127428399T>A | CA348404400 | PROC | c.839T>A (p.Leu280Gln) c.163T>A c.941T>A (p.Leu314Gln) c.1022T>A (p.Leu341Gln) c.1004T>A (p.Leu335Gln) c.902T>A (p.Leu301Gln) n.1332-135A>T c.1082T>A (p.Leu361Gln) c.1184T>A (p.Leu395Gln) c.1124T>A (p.Leu375Gln) n.3607-135A>T n.4043-135A>T c.1007T>A (p.Leu336Gln) c.1025T>A (p.Leu342Gln) c.782T>A (p.Leu261Gln) c.815T>A (p.Leu272Gln) c.833T>A (p.Leu278Gln) | |
2 | g.127428399T>C | CA348404396 | PROC | c.839T>C (p.Leu280Pro) c.163T>C c.941T>C (p.Leu314Pro) c.1022T>C (p.Leu341Pro) c.1004T>C (p.Leu335Pro) c.902T>C (p.Leu301Pro) n.1332-135A>G c.1082T>C (p.Leu361Pro) c.1184T>C (p.Leu395Pro) c.1124T>C (p.Leu375Pro) n.3607-135A>G n.4043-135A>G c.1007T>C (p.Leu336Pro) c.1025T>C (p.Leu342Pro) c.782T>C (p.Leu261Pro) c.815T>C (p.Leu272Pro) c.833T>C (p.Leu278Pro) | gnomAD v4 |
2 | g.127428399T>G | CA348404398 | PROC | c.839T>G (p.Leu280Arg) c.163T>G c.941T>G (p.Leu314Arg) c.1022T>G (p.Leu341Arg) c.1004T>G (p.Leu335Arg) c.902T>G (p.Leu301Arg) n.1332-135A>C c.1082T>G (p.Leu361Arg) c.1184T>G (p.Leu395Arg) c.1124T>G (p.Leu375Arg) n.3607-135A>C n.4043-135A>C c.1007T>G (p.Leu336Arg) c.1025T>G (p.Leu342Arg) c.782T>G (p.Leu261Arg) c.815T>G (p.Leu272Arg) c.833T>G (p.Leu278Arg) | |
2 | g.127428400G>A | CA428618881 | PROC | c.840G>A (p.Leu280=) c.164G>A c.942G>A (p.Leu314=) c.1023G>A (p.Leu341=) c.1005G>A (p.Leu335=) c.903G>A (p.Leu301=) n.1332-136C>T c.1083G>A (p.Leu361=) c.1185G>A (p.Leu395=) c.1125G>A (p.Leu375=) n.3607-136C>T n.4043-136C>T c.1008G>A (p.Leu336=) c.1026G>A (p.Leu342=) c.783G>A (p.Leu261=) c.816G>A (p.Leu272=) c.834G>A (p.Leu278=) | |
2 | g.127428400G>C | CA428618882 | PROC | c.840G>C (p.Leu280=) c.164G>C c.942G>C (p.Leu314=) c.1023G>C (p.Leu341=) c.1005G>C (p.Leu335=) c.903G>C (p.Leu301=) n.1332-136C>G c.1083G>C (p.Leu361=) c.1185G>C (p.Leu395=) c.1125G>C (p.Leu375=) n.3607-136C>G n.4043-136C>G c.1008G>C (p.Leu336=) c.1026G>C (p.Leu342=) c.783G>C (p.Leu261=) c.816G>C (p.Leu272=) c.834G>C (p.Leu278=) | |
2 | g.127428400G>T | CA428618883 | PROC | c.840G>T (p.Leu280=) c.164G>T c.942G>T (p.Leu314=) c.1023G>T (p.Leu341=) c.1005G>T (p.Leu335=) c.903G>T (p.Leu301=) n.1332-136C>A c.1083G>T (p.Leu361=) c.1185G>T (p.Leu395=) c.1125G>T (p.Leu375=) n.3607-136C>A n.4043-136C>A c.1008G>T (p.Leu336=) c.1026G>T (p.Leu342=) c.783G>T (p.Leu261=) c.816G>T (p.Leu272=) c.834G>T (p.Leu278=) | |
2 | g.127428401G>A | CA348404402 | PROC | c.841G>A (p.Asp281Asn) c.165G>A c.943G>A (p.Asp315Asn) c.1024G>A (p.Asp342Asn) c.1006G>A (p.Asp336Asn) c.904G>A (p.Asp302Asn) n.1332-137C>T c.1084G>A (p.Asp362Asn) c.1186G>A (p.Asp396Asn) c.1126G>A (p.Asp376Asn) n.3607-137C>T n.4043-137C>T c.1009G>A (p.Asp337Asn) c.1027G>A (p.Asp343Asn) c.784G>A (p.Asp262Asn) c.817G>A (p.Asp273Asn) c.835G>A (p.Asp279Asn) | gnomAD v4 |
2 | g.127428401G>C | CA348404404 | PROC | c.841G>C (p.Asp281His) c.165G>C c.943G>C (p.Asp315His) c.1024G>C (p.Asp342His) c.1006G>C (p.Asp336His) c.904G>C (p.Asp302His) n.1332-137C>G c.1084G>C (p.Asp362His) c.1186G>C (p.Asp396His) c.1126G>C (p.Asp376His) n.3607-137C>G n.4043-137C>G c.1009G>C (p.Asp337His) c.1027G>C (p.Asp343His) c.784G>C (p.Asp262His) c.817G>C (p.Asp273His) c.835G>C (p.Asp279His) | |
2 | g.127428401G>T | CA348404406 | PROC | c.841G>T (p.Asp281Tyr) c.165G>T c.943G>T (p.Asp315Tyr) c.1024G>T (p.Asp342Tyr) c.1006G>T (p.Asp336Tyr) c.904G>T (p.Asp302Tyr) n.1332-137C>A c.1084G>T (p.Asp362Tyr) c.1186G>T (p.Asp396Tyr) c.1126G>T (p.Asp376Tyr) n.3607-137C>A n.4043-137C>A c.1009G>T (p.Asp337Tyr) c.1027G>T (p.Asp343Tyr) c.784G>T (p.Asp262Tyr) c.817G>T (p.Asp273Tyr) c.835G>T (p.Asp279Tyr) | |
2 | g.127428402A= | CA1286884449 | PROC | c.842A= (p.Asp281=) c.166A= c.944A= (p.Asp315=) c.1025A= (p.Asp342=) c.1007A= (p.Asp336=) c.905A= (p.Asp302=) n.1332-138T= c.1085A= (p.Asp362=) c.1187A= (p.Asp396=) c.1127A= (p.Asp376=) n.3607-138T= n.4043-138T= c.1010A= (p.Asp337=) c.1028A= (p.Asp343=) c.785A= (p.Asp262=) c.818A= (p.Asp273=) c.836A= (p.Asp279=) | |
2 | g.127428402A>C | CA348404408 | PROC | c.842A>C (p.Asp281Ala) c.166A>C c.944A>C (p.Asp315Ala) c.1025A>C (p.Asp342Ala) c.1007A>C (p.Asp336Ala) c.905A>C (p.Asp302Ala) n.1332-138T>G c.1085A>C (p.Asp362Ala) c.1187A>C (p.Asp396Ala) c.1127A>C (p.Asp376Ala) n.3607-138T>G n.4043-138T>G c.1010A>C (p.Asp337Ala) c.1028A>C (p.Asp343Ala) c.785A>C (p.Asp262Ala) c.818A>C (p.Asp273Ala) c.836A>C (p.Asp279Ala) | |
2 | g.127428402A>G | CA348404410 | PROC | c.842A>G (p.Asp281Gly) c.166A>G c.944A>G (p.Asp315Gly) c.1025A>G (p.Asp342Gly) c.1007A>G (p.Asp336Gly) c.905A>G (p.Asp302Gly) n.1332-138T>C c.1085A>G (p.Asp362Gly) c.1187A>G (p.Asp396Gly) c.1127A>G (p.Asp376Gly) n.3607-138T>C n.4043-138T>C c.1010A>G (p.Asp337Gly) c.1028A>G (p.Asp343Gly) c.785A>G (p.Asp262Gly) c.818A>G (p.Asp273Gly) c.836A>G (p.Asp279Gly) | |
2 | g.127428402A>T | CA1859470 | PROC | c.842A>T (p.Asp281Val) c.166A>T c.944A>T (p.Asp315Val) c.1025A>T (p.Asp342Val) c.1007A>T (p.Asp336Val) c.905A>T (p.Asp302Val) n.1332-138T>A c.1085A>T (p.Asp362Val) c.1187A>T (p.Asp396Val) c.1127A>T (p.Asp376Val) n.3607-138T>A n.4043-138T>A c.1010A>T (p.Asp337Val) c.1028A>T (p.Asp343Val) c.785A>T (p.Asp262Val) c.818A>T (p.Asp273Val) c.836A>T (p.Asp279Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428403C>A | CA348404415 | PROC | c.843C>A (p.Asp281Glu) c.167C>A c.945C>A (p.Asp315Glu) c.1026C>A (p.Asp342Glu) c.1008C>A (p.Asp336Glu) c.906C>A (p.Asp302Glu) n.1332-139G>T c.1086C>A (p.Asp362Glu) c.1188C>A (p.Asp396Glu) c.1128C>A (p.Asp376Glu) n.3607-139G>T n.4043-139G>T c.1011C>A (p.Asp337Glu) c.1029C>A (p.Asp343Glu) c.786C>A (p.Asp262Glu) c.819C>A (p.Asp273Glu) c.837C>A (p.Asp279Glu) | |
2 | g.127428403C>G | CA348404413 | PROC | c.843C>G (p.Asp281Glu) c.167C>G c.945C>G (p.Asp315Glu) c.1026C>G (p.Asp342Glu) c.1008C>G (p.Asp336Glu) c.906C>G (p.Asp302Glu) n.1332-139G>C c.1086C>G (p.Asp362Glu) c.1188C>G (p.Asp396Glu) c.1128C>G (p.Asp376Glu) n.3607-139G>C n.4043-139G>C c.1011C>G (p.Asp337Glu) c.1029C>G (p.Asp343Glu) c.786C>G (p.Asp262Glu) c.819C>G (p.Asp273Glu) c.837C>G (p.Asp279Glu) | |
2 | g.127428403C>T | CA428618884 | PROC | c.843C>T (p.Asp281=) c.167C>T c.945C>T (p.Asp315=) c.1026C>T (p.Asp342=) c.1008C>T (p.Asp336=) c.906C>T (p.Asp302=) n.1332-139G>A c.1086C>T (p.Asp362=) c.1188C>T (p.Asp396=) c.1128C>T (p.Asp376=) n.3607-139G>A n.4043-139G>A c.1011C>T (p.Asp337=) c.1029C>T (p.Asp343=) c.786C>T (p.Asp262=) c.819C>T (p.Asp273=) c.837C>T (p.Asp279=) | gnomAD v4 |
2 | g.127428404A>C | CA348404418 | PROC | c.844A>C (p.Ile282Leu) c.168A>C c.946A>C (p.Ile316Leu) c.1027A>C (p.Ile343Leu) c.1009A>C (p.Ile337Leu) c.907A>C (p.Ile303Leu) n.1332-140T>G c.1087A>C (p.Ile363Leu) c.1189A>C (p.Ile397Leu) c.1129A>C (p.Ile377Leu) n.3607-140T>G n.4043-140T>G c.1012A>C (p.Ile338Leu) c.1030A>C (p.Ile344Leu) c.787A>C (p.Ile263Leu) c.820A>C (p.Ile274Leu) c.838A>C (p.Ile280Leu) | |
2 | g.127428404A>G | CA348404421 | PROC | c.844A>G (p.Ile282Val) c.168A>G c.946A>G (p.Ile316Val) c.1027A>G (p.Ile343Val) c.1009A>G (p.Ile337Val) c.907A>G (p.Ile303Val) n.1332-140T>C c.1087A>G (p.Ile363Val) c.1189A>G (p.Ile397Val) c.1129A>G (p.Ile377Val) n.3607-140T>C n.4043-140T>C c.1012A>G (p.Ile338Val) c.1030A>G (p.Ile344Val) c.787A>G (p.Ile263Val) c.820A>G (p.Ile274Val) c.838A>G (p.Ile280Val) | gnomAD v4 |
2 | g.127428404A>T | CA348404419 | PROC | c.844A>T (p.Ile282Phe) c.168A>T c.946A>T (p.Ile316Phe) c.1027A>T (p.Ile343Phe) c.1009A>T (p.Ile337Phe) c.907A>T (p.Ile303Phe) n.1332-140T>A c.1087A>T (p.Ile363Phe) c.1189A>T (p.Ile397Phe) c.1129A>T (p.Ile377Phe) n.3607-140T>A n.4043-140T>A c.1012A>T (p.Ile338Phe) c.1030A>T (p.Ile344Phe) c.787A>T (p.Ile263Phe) c.820A>T (p.Ile274Phe) c.838A>T (p.Ile280Phe) | |
2 | g.127428405T>A | CA348404423 | PROC | c.845T>A (p.Ile282Asn) c.169T>A c.947T>A (p.Ile316Asn) c.1028T>A (p.Ile343Asn) c.1010T>A (p.Ile337Asn) c.908T>A (p.Ile303Asn) n.1332-141A>T c.1088T>A (p.Ile363Asn) c.1190T>A (p.Ile397Asn) c.1130T>A (p.Ile377Asn) n.3607-141A>T n.4043-141A>T c.1013T>A (p.Ile338Asn) c.1031T>A (p.Ile344Asn) c.788T>A (p.Ile263Asn) c.821T>A (p.Ile274Asn) c.839T>A (p.Ile280Asn) | |
2 | g.127428405T>C | CA348404425 | PROC | c.845T>C (p.Ile282Thr) c.169T>C c.947T>C (p.Ile316Thr) c.1028T>C (p.Ile343Thr) c.1010T>C (p.Ile337Thr) c.908T>C (p.Ile303Thr) n.1332-141A>G c.1088T>C (p.Ile363Thr) c.1190T>C (p.Ile397Thr) c.1130T>C (p.Ile377Thr) n.3607-141A>G n.4043-141A>G c.1013T>C (p.Ile338Thr) c.1031T>C (p.Ile344Thr) c.788T>C (p.Ile263Thr) c.821T>C (p.Ile274Thr) c.839T>C (p.Ile280Thr) | |
2 | g.127428405T>G | CA348404427 | PROC | c.845T>G (p.Ile282Ser) c.169T>G c.947T>G (p.Ile316Ser) c.1028T>G (p.Ile343Ser) c.1010T>G (p.Ile337Ser) c.908T>G (p.Ile303Ser) n.1332-141A>C c.1088T>G (p.Ile363Ser) c.1190T>G (p.Ile397Ser) c.1130T>G (p.Ile377Ser) n.3607-141A>C n.4043-141A>C c.1013T>G (p.Ile338Ser) c.1031T>G (p.Ile344Ser) c.788T>G (p.Ile263Ser) c.821T>G (p.Ile274Ser) c.839T>G (p.Ile280Ser) | |
2 | g.127428406C>A | CA428618885 | PROC | c.846C>A (p.Ile282=) c.170C>A c.948C>A (p.Ile316=) c.1029C>A (p.Ile343=) c.1011C>A (p.Ile337=) c.909C>A (p.Ile303=) n.1332-142G>T c.1089C>A (p.Ile363=) c.1191C>A (p.Ile397=) c.1131C>A (p.Ile377=) n.3607-142G>T n.4043-142G>T c.1014C>A (p.Ile338=) c.1032C>A (p.Ile344=) c.789C>A (p.Ile263=) c.822C>A (p.Ile274=) c.840C>A (p.Ile280=) | |
2 | g.127428406C>G | CA348404429 | PROC | c.846C>G (p.Ile282Met) c.170C>G c.948C>G (p.Ile316Met) c.1029C>G (p.Ile343Met) c.1011C>G (p.Ile337Met) c.909C>G (p.Ile303Met) n.1332-142G>C c.1089C>G (p.Ile363Met) c.1191C>G (p.Ile397Met) c.1131C>G (p.Ile377Met) n.3607-142G>C n.4043-142G>C c.1014C>G (p.Ile338Met) c.1032C>G (p.Ile344Met) c.789C>G (p.Ile263Met) c.822C>G (p.Ile274Met) c.840C>G (p.Ile280Met) | |
2 | g.127428406C>T | CA428618886 | PROC | c.846C>T (p.Ile282=) c.170C>T c.948C>T (p.Ile316=) c.1029C>T (p.Ile343=) c.1011C>T (p.Ile337=) c.909C>T (p.Ile303=) n.1332-142G>A c.1089C>T (p.Ile363=) c.1191C>T (p.Ile397=) c.1131C>T (p.Ile377=) n.3607-142G>A n.4043-142G>A c.1014C>T (p.Ile338=) c.1032C>T (p.Ile344=) c.789C>T (p.Ile263=) c.822C>T (p.Ile274=) c.840C>T (p.Ile280=) | |
2 | g.127428407A= | CA1286884451 | PROC | c.847A= (p.Lys283=) c.171A= c.949A= (p.Lys317=) c.1030A= (p.Lys344=) c.1012A= (p.Lys338=) c.910A= (p.Lys304=) n.1332-143T= c.1090A= (p.Lys364=) c.1192A= (p.Lys398=) c.1132A= (p.Lys378=) n.3607-143T= n.4043-143T= c.1015A= (p.Lys339=) c.1033A= (p.Lys345=) c.790A= (p.Lys264=) c.823A= (p.Lys275=) c.841A= (p.Lys281=) | |
2 | g.127428407A>C | CA348404432 | PROC | c.847A>C (p.Lys283Gln) c.171A>C c.949A>C (p.Lys317Gln) c.1030A>C (p.Lys344Gln) c.1012A>C (p.Lys338Gln) c.910A>C (p.Lys304Gln) n.1332-143T>G c.1090A>C (p.Lys364Gln) c.1192A>C (p.Lys398Gln) c.1132A>C (p.Lys378Gln) n.3607-143T>G n.4043-143T>G c.1015A>C (p.Lys339Gln) c.1033A>C (p.Lys345Gln) c.790A>C (p.Lys264Gln) c.823A>C (p.Lys275Gln) c.841A>C (p.Lys281Gln) | |
2 | g.127428407A>G | CA348404433 | PROC | c.847A>G (p.Lys283Glu) c.171A>G c.949A>G (p.Lys317Glu) c.1030A>G (p.Lys344Glu) c.1012A>G (p.Lys338Glu) c.910A>G (p.Lys304Glu) n.1332-143T>C c.1090A>G (p.Lys364Glu) c.1192A>G (p.Lys398Glu) c.1132A>G (p.Lys378Glu) n.3607-143T>C n.4043-143T>C c.1015A>G (p.Lys339Glu) c.1033A>G (p.Lys345Glu) c.790A>G (p.Lys264Glu) c.823A>G (p.Lys275Glu) c.841A>G (p.Lys281Glu) | dbSNP gnomAD v4 |
2 | g.127428407A>T | CA348404436 | PROC | c.847A>T (p.Lys283Ter) c.171A>T c.949A>T (p.Lys317Ter) c.1030A>T (p.Lys344Ter) c.1012A>T (p.Lys338Ter) c.910A>T (p.Lys304Ter) n.1332-143T>A c.1090A>T (p.Lys364Ter) c.1192A>T (p.Lys398Ter) c.1132A>T (p.Lys378Ter) n.3607-143T>A n.4043-143T>A c.1015A>T (p.Lys339Ter) c.1033A>T (p.Lys345Ter) c.790A>T (p.Lys264Ter) c.823A>T (p.Lys275Ter) c.841A>T (p.Lys281Ter) | |
2 | g.127428407_127428410delinsAAGG | CA1286884450 | PROC | c.847_850delinsAAGG (p.Lys283=) c.171_174delinsAAGG c.949_952delinsAAGG (p.Lys317=) c.1030_1033delinsAAGG (p.Lys344=) c.1012_1015delinsAAGG (p.Lys338=) c.910_913delinsAAGG (p.Lys304=) n.1332-146_1332-143delinsCCTT c.1090_1093delinsAAGG (p.Lys364=) c.1192_1195delinsAAGG (p.Lys398=) c.1132_1135delinsAAGG (p.Lys378=) n.3607-146_3607-143delinsCCTT n.4043-146_4043-143delinsCCTT c.1015_1018delinsAAGG (p.Lys339=) c.1033_1036delinsAAGG (p.Lys345=) c.790_793delinsAAGG (p.Lys264=) c.823_826delinsAAGG (p.Lys275=) c.841_844delinsAAGG (p.Lys281=) | |
2 | g.127428408A>C | CA348404438 | PROC | c.848A>C (p.Lys283Thr) c.172A>C c.950A>C (p.Lys317Thr) c.1031A>C (p.Lys344Thr) c.1013A>C (p.Lys338Thr) c.911A>C (p.Lys304Thr) n.1332-144T>G c.1091A>C (p.Lys364Thr) c.1193A>C (p.Lys398Thr) c.1133A>C (p.Lys378Thr) n.3607-144T>G n.4043-144T>G c.1016A>C (p.Lys339Thr) c.1034A>C (p.Lys345Thr) c.791A>C (p.Lys264Thr) c.824A>C (p.Lys275Thr) c.842A>C (p.Lys281Thr) | |
2 | g.127428408A>G | CA348404440 | PROC | c.848A>G (p.Lys283Arg) c.172A>G c.950A>G (p.Lys317Arg) c.1031A>G (p.Lys344Arg) c.1013A>G (p.Lys338Arg) c.911A>G (p.Lys304Arg) n.1332-144T>C c.1091A>G (p.Lys364Arg) c.1193A>G (p.Lys398Arg) c.1133A>G (p.Lys378Arg) n.3607-144T>C n.4043-144T>C c.1016A>G (p.Lys339Arg) c.1034A>G (p.Lys345Arg) c.791A>G (p.Lys264Arg) c.824A>G (p.Lys275Arg) c.842A>G (p.Lys281Arg) | |
2 | g.127428408A>T | CA348404442 | PROC | c.848A>T (p.Lys283Met) c.172A>T c.950A>T (p.Lys317Met) c.1031A>T (p.Lys344Met) c.1013A>T (p.Lys338Met) c.911A>T (p.Lys304Met) n.1332-144T>A c.1091A>T (p.Lys364Met) c.1193A>T (p.Lys398Met) c.1133A>T (p.Lys378Met) n.3607-144T>A n.4043-144T>A c.1016A>T (p.Lys339Met) c.1034A>T (p.Lys345Met) c.791A>T (p.Lys264Met) c.824A>T (p.Lys275Met) c.842A>T (p.Lys281Met) | |
2 | g.127428411_127428413del | CA1859471 | PROC | c.851_853del (p.Glu284del) c.175_177del c.953_955del (p.Glu318del) c.1034_1036del (p.Glu345del) c.1016_1018del (p.Glu339del) c.914_916del (p.Glu305del) n.1332-146_1332-144del c.1094_1096del (p.Glu365del) c.1196_1198del (p.Glu399del) c.1136_1138del (p.Glu379del) n.3607-146_3607-144del n.4043-146_4043-144del c.1019_1021del (p.Glu340del) c.1037_1039del (p.Glu346del) c.794_796del (p.Glu265del) c.827_829del (p.Glu276del) c.845_847del (p.Glu282del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428409G>A | CA428618887 | PROC | c.849G>A (p.Lys283=) c.173G>A c.951G>A (p.Lys317=) c.1032G>A (p.Lys344=) c.1014G>A (p.Lys338=) c.912G>A (p.Lys304=) n.1332-145C>T c.1092G>A (p.Lys364=) c.1194G>A (p.Lys398=) c.1134G>A (p.Lys378=) n.3607-145C>T n.4043-145C>T c.1017G>A (p.Lys339=) c.1035G>A (p.Lys345=) c.792G>A (p.Lys264=) c.825G>A (p.Lys275=) c.843G>A (p.Lys281=) | COSMIC COSMIC |
2 | g.127428409G>C | CA348404446 | PROC | c.849G>C (p.Lys283Asn) c.173G>C c.951G>C (p.Lys317Asn) c.1032G>C (p.Lys344Asn) c.1014G>C (p.Lys338Asn) c.912G>C (p.Lys304Asn) n.1332-145C>G c.1092G>C (p.Lys364Asn) c.1194G>C (p.Lys398Asn) c.1134G>C (p.Lys378Asn) n.3607-145C>G n.4043-145C>G c.1017G>C (p.Lys339Asn) c.1035G>C (p.Lys345Asn) c.792G>C (p.Lys264Asn) c.825G>C (p.Lys275Asn) c.843G>C (p.Lys281Asn) | |
2 | g.127428409G= | CA1286884452 | PROC | c.849G= (p.Lys283=) c.173G= c.951G= (p.Lys317=) c.1032G= (p.Lys344=) c.1014G= (p.Lys338=) c.912G= (p.Lys304=) n.1332-145C= c.1092G= (p.Lys364=) c.1194G= (p.Lys398=) c.1134G= (p.Lys378=) n.3607-145C= n.4043-145C= c.1017G= (p.Lys339=) c.1035G= (p.Lys345=) c.792G= (p.Lys264=) c.825G= (p.Lys275=) c.843G= (p.Lys281=) | |
2 | g.127428409G>T | CA1859472 | PROC | c.849G>T (p.Lys283Asn) c.173G>T c.951G>T (p.Lys317Asn) c.1032G>T (p.Lys344Asn) c.1014G>T (p.Lys338Asn) c.912G>T (p.Lys304Asn) n.1332-145C>A c.1092G>T (p.Lys364Asn) c.1194G>T (p.Lys398Asn) c.1134G>T (p.Lys378Asn) n.3607-145C>A n.4043-145C>A c.1017G>T (p.Lys339Asn) c.1035G>T (p.Lys345Asn) c.792G>T (p.Lys264Asn) c.825G>T (p.Lys275Asn) c.843G>T (p.Lys281Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428410G>A | CA348404449 | PROC | c.850G>A (p.Glu284Lys) c.174G>A c.952G>A (p.Glu318Lys) c.1033G>A (p.Glu345Lys) c.1015G>A (p.Glu339Lys) c.913G>A (p.Glu305Lys) n.1332-146C>T c.1093G>A (p.Glu365Lys) c.1195G>A (p.Glu399Lys) c.1135G>A (p.Glu379Lys) n.3607-146C>T n.4043-146C>T c.1018G>A (p.Glu340Lys) c.1036G>A (p.Glu346Lys) c.793G>A (p.Glu265Lys) c.826G>A (p.Glu276Lys) c.844G>A (p.Glu282Lys) | gnomAD v4 |
2 | g.127428410G>C | CA348404450 | PROC | c.850G>C (p.Glu284Gln) c.174G>C c.952G>C (p.Glu318Gln) c.1033G>C (p.Glu345Gln) c.1015G>C (p.Glu339Gln) c.913G>C (p.Glu305Gln) n.1332-146C>G c.1093G>C (p.Glu365Gln) c.1195G>C (p.Glu399Gln) c.1135G>C (p.Glu379Gln) n.3607-146C>G n.4043-146C>G c.1018G>C (p.Glu340Gln) c.1036G>C (p.Glu346Gln) c.793G>C (p.Glu265Gln) c.826G>C (p.Glu276Gln) c.844G>C (p.Glu282Gln) | |
2 | g.127428410G>T | CA348404452 | PROC | c.850G>T (p.Glu284Ter) c.174G>T c.952G>T (p.Glu318Ter) c.1033G>T (p.Glu345Ter) c.1015G>T (p.Glu339Ter) c.913G>T (p.Glu305Ter) n.1332-146C>A c.1093G>T (p.Glu365Ter) c.1195G>T (p.Glu399Ter) c.1135G>T (p.Glu379Ter) n.3607-146C>A n.4043-146C>A c.1018G>T (p.Glu340Ter) c.1036G>T (p.Glu346Ter) c.793G>T (p.Glu265Ter) c.826G>T (p.Glu276Ter) c.844G>T (p.Glu282Ter) | |
2 | g.127428411A>C | CA348404454 | PROC | c.851A>C (p.Glu284Ala) c.175A>C c.953A>C (p.Glu318Ala) c.1034A>C (p.Glu345Ala) c.1016A>C (p.Glu339Ala) c.914A>C (p.Glu305Ala) n.1332-147T>G c.1094A>C (p.Glu365Ala) c.1196A>C (p.Glu399Ala) c.1136A>C (p.Glu379Ala) n.3607-147T>G n.4043-147T>G c.1019A>C (p.Glu340Ala) c.1037A>C (p.Glu346Ala) c.794A>C (p.Glu265Ala) c.827A>C (p.Glu276Ala) c.845A>C (p.Glu282Ala) | |
2 | g.127428411A>G | CA348404456 | PROC | c.851A>G (p.Glu284Gly) c.175A>G c.953A>G (p.Glu318Gly) c.1034A>G (p.Glu345Gly) c.1016A>G (p.Glu339Gly) c.914A>G (p.Glu305Gly) n.1332-147T>C c.1094A>G (p.Glu365Gly) c.1196A>G (p.Glu399Gly) c.1136A>G (p.Glu379Gly) n.3607-147T>C n.4043-147T>C c.1019A>G (p.Glu340Gly) c.1037A>G (p.Glu346Gly) c.794A>G (p.Glu265Gly) c.827A>G (p.Glu276Gly) c.845A>G (p.Glu282Gly) | |
2 | g.127428411A>T | CA348404458 | PROC | c.851A>T (p.Glu284Val) c.175A>T c.953A>T (p.Glu318Val) c.1034A>T (p.Glu345Val) c.1016A>T (p.Glu339Val) c.914A>T (p.Glu305Val) n.1332-147T>A c.1094A>T (p.Glu365Val) c.1196A>T (p.Glu399Val) c.1136A>T (p.Glu379Val) n.3607-147T>A n.4043-147T>A c.1019A>T (p.Glu340Val) c.1037A>T (p.Glu346Val) c.794A>T (p.Glu265Val) c.827A>T (p.Glu276Val) c.845A>T (p.Glu282Val) | |
2 | g.127428412G>A | CA1859473 | PROC | c.852G>A (p.Glu284=) c.176G>A c.954G>A (p.Glu318=) c.1035G>A (p.Glu345=) c.1017G>A (p.Glu339=) c.915G>A (p.Glu305=) n.1332-148C>T c.1095G>A (p.Glu365=) c.1197G>A (p.Glu399=) c.1137G>A (p.Glu379=) n.3607-148C>T n.4043-148C>T c.1020G>A (p.Glu340=) c.1038G>A (p.Glu346=) c.795G>A (p.Glu265=) c.828G>A (p.Glu276=) c.846G>A (p.Glu282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.127428412G>C | CA348404461 | PROC | c.852G>C (p.Glu284Asp) c.176G>C c.954G>C (p.Glu318Asp) c.1035G>C (p.Glu345Asp) c.1017G>C (p.Glu339Asp) c.915G>C (p.Glu305Asp) n.1332-148C>G c.1095G>C (p.Glu365Asp) c.1197G>C (p.Glu399Asp) c.1137G>C (p.Glu379Asp) n.3607-148C>G n.4043-148C>G c.1020G>C (p.Glu340Asp) c.1038G>C (p.Glu346Asp) c.795G>C (p.Glu265Asp) c.828G>C (p.Glu276Asp) c.846G>C (p.Glu282Asp) | |
2 | g.127428412G= | CA1286884453 | PROC | c.852G= (p.Glu284=) c.176G= c.954G= (p.Glu318=) c.1035G= (p.Glu345=) c.1017G= (p.Glu339=) c.915G= (p.Glu305=) n.1332-148C= c.1095G= (p.Glu365=) c.1197G= (p.Glu399=) c.1137G= (p.Glu379=) n.3607-148C= n.4043-148C= c.1020G= (p.Glu340=) c.1038G= (p.Glu346=) c.795G= (p.Glu265=) c.828G= (p.Glu276=) c.846G= (p.Glu282=) | |
2 | g.127428412G>T | CA348404463 | PROC | c.852G>T (p.Glu284Asp) c.176G>T c.954G>T (p.Glu318Asp) c.1035G>T (p.Glu345Asp) c.1017G>T (p.Glu339Asp) c.915G>T (p.Glu305Asp) n.1332-148C>A c.1095G>T (p.Glu365Asp) c.1197G>T (p.Glu399Asp) c.1137G>T (p.Glu379Asp) n.3607-148C>A n.4043-148C>A c.1020G>T (p.Glu340Asp) c.1038G>T (p.Glu346Asp) c.795G>T (p.Glu265Asp) c.828G>T (p.Glu276Asp) c.846G>T (p.Glu282Asp) | |
2 | g.127428413G>A | CA348404466 | PROC | c.853G>A (p.Val285Ile) c.177G>A c.955G>A (p.Val319Ile) c.1036G>A (p.Val346Ile) c.1018G>A (p.Val340Ile) c.916G>A (p.Val306Ile) n.1332-149C>T c.1096G>A (p.Val366Ile) c.1198G>A (p.Val400Ile) c.1138G>A (p.Val380Ile) n.3607-149C>T n.4043-149C>T c.1021G>A (p.Val341Ile) c.1039G>A (p.Val347Ile) c.796G>A (p.Val266Ile) c.829G>A (p.Val277Ile) c.847G>A (p.Val283Ile) | |
2 | g.127428413G>C | CA348404467 | PROC | c.853G>C (p.Val285Leu) c.177G>C c.955G>C (p.Val319Leu) c.1036G>C (p.Val346Leu) c.1018G>C (p.Val340Leu) c.916G>C (p.Val306Leu) n.1332-149C>G c.1096G>C (p.Val366Leu) c.1198G>C (p.Val400Leu) c.1138G>C (p.Val380Leu) n.3607-149C>G n.4043-149C>G c.1021G>C (p.Val341Leu) c.1039G>C (p.Val347Leu) c.796G>C (p.Val266Leu) c.829G>C (p.Val277Leu) c.847G>C (p.Val283Leu) | |
2 | g.127428413G>T | CA348404469 | PROC | c.853G>T (p.Val285Phe) c.177G>T c.955G>T (p.Val319Phe) c.1036G>T (p.Val346Phe) c.1018G>T (p.Val340Phe) c.916G>T (p.Val306Phe) n.1332-149C>A c.1096G>T (p.Val366Phe) c.1198G>T (p.Val400Phe) c.1138G>T (p.Val380Phe) n.3607-149C>A n.4043-149C>A c.1021G>T (p.Val341Phe) c.1039G>T (p.Val347Phe) c.796G>T (p.Val266Phe) c.829G>T (p.Val277Phe) c.847G>T (p.Val283Phe) | gnomAD v4 |
2 | g.127428416_127428421del | CA2660997776 | PROC | c.856_861del (p.Phe286_Val287del) c.180_185del c.958_963del (p.Phe320_Val321del) c.1039_1044del (p.Phe347_Val348del) c.1021_1026del (p.Phe341_Val342del) c.919_924del (p.Phe307_Val308del) n.1332-154_1332-149del c.1099_1104del (p.Phe367_Val368del) c.1201_1206del (p.Phe401_Val402del) c.1141_1146del (p.Phe381_Val382del) n.3607-154_3607-149del n.4043-154_4043-149del c.1024_1029del (p.Phe342_Val343del) c.1042_1047del (p.Phe348_Val349del) c.799_804del (p.Phe267_Val268del) c.832_837del (p.Phe278_Val279del) c.850_855del (p.Phe284_Val285del) | gnomAD v4 |
2 | g.127428414T>A | CA348404473 | PROC | c.854T>A (p.Val285Asp) c.178T>A c.956T>A (p.Val319Asp) c.1037T>A (p.Val346Asp) c.1019T>A (p.Val340Asp) c.917T>A (p.Val306Asp) n.1332-150A>T c.1097T>A (p.Val366Asp) c.1199T>A (p.Val400Asp) c.1139T>A (p.Val380Asp) n.3607-150A>T n.4043-150A>T c.1022T>A (p.Val341Asp) c.1040T>A (p.Val347Asp) c.797T>A (p.Val266Asp) c.830T>A (p.Val277Asp) c.848T>A (p.Val283Asp) | |
2 | g.127428414T>C | CA348404475 | PROC | c.854T>C (p.Val285Ala) c.178T>C c.956T>C (p.Val319Ala) c.1037T>C (p.Val346Ala) c.1019T>C (p.Val340Ala) c.917T>C (p.Val306Ala) n.1332-150A>G c.1097T>C (p.Val366Ala) c.1199T>C (p.Val400Ala) c.1139T>C (p.Val380Ala) n.3607-150A>G n.4043-150A>G c.1022T>C (p.Val341Ala) c.1040T>C (p.Val347Ala) c.797T>C (p.Val266Ala) c.830T>C (p.Val277Ala) c.848T>C (p.Val283Ala) | |
2 | g.127428414T>G | CA348404472 | PROC | c.854T>G (p.Val285Gly) c.178T>G c.956T>G (p.Val319Gly) c.1037T>G (p.Val346Gly) c.1019T>G (p.Val340Gly) c.917T>G (p.Val306Gly) n.1332-150A>C c.1097T>G (p.Val366Gly) c.1199T>G (p.Val400Gly) c.1139T>G (p.Val380Gly) n.3607-150A>C n.4043-150A>C c.1022T>G (p.Val341Gly) c.1040T>G (p.Val347Gly) c.797T>G (p.Val266Gly) c.830T>G (p.Val277Gly) c.848T>G (p.Val283Gly) | dbSNP |
2 | g.127428414T= | CA1286884454 | PROC | c.854T= (p.Val285=) c.178T= c.956T= (p.Val319=) c.1037T= (p.Val346=) c.1019T= (p.Val340=) c.917T= (p.Val306=) n.1332-150A= c.1097T= (p.Val366=) c.1199T= (p.Val400=) c.1139T= (p.Val380=) n.3607-150A= n.4043-150A= c.1022T= (p.Val341=) c.1040T= (p.Val347=) c.797T= (p.Val266=) c.830T= (p.Val277=) c.848T= (p.Val283=) | |
2 | g.127428415C>A | CA428618889 | PROC | c.855C>A (p.Val285=) c.179C>A c.957C>A (p.Val319=) c.1038C>A (p.Val346=) c.1020C>A (p.Val340=) c.918C>A (p.Val306=) n.1332-151G>T c.1098C>A (p.Val366=) c.1200C>A (p.Val400=) c.1140C>A (p.Val380=) n.3607-151G>T n.4043-151G>T c.1023C>A (p.Val341=) c.1041C>A (p.Val347=) c.798C>A (p.Val266=) c.831C>A (p.Val277=) c.849C>A (p.Val283=) | |
2 | g.127428415C>G | CA428618890 | PROC | c.855C>G (p.Val285=) c.179C>G c.957C>G (p.Val319=) c.1038C>G (p.Val346=) c.1020C>G (p.Val340=) c.918C>G (p.Val306=) n.1332-151G>C c.1098C>G (p.Val366=) c.1200C>G (p.Val400=) c.1140C>G (p.Val380=) n.3607-151G>C n.4043-151G>C c.1023C>G (p.Val341=) c.1041C>G (p.Val347=) c.798C>G (p.Val266=) c.831C>G (p.Val277=) c.849C>G (p.Val283=) | |
2 | g.127428415C>T | CA428618888 | PROC | c.855C>T (p.Val285=) c.179C>T c.957C>T (p.Val319=) c.1038C>T (p.Val346=) c.1020C>T (p.Val340=) c.918C>T (p.Val306=) n.1332-151G>A c.1098C>T (p.Val366=) c.1200C>T (p.Val400=) c.1140C>T (p.Val380=) n.3607-151G>A n.4043-151G>A c.1023C>T (p.Val341=) c.1041C>T (p.Val347=) c.798C>T (p.Val266=) c.831C>T (p.Val277=) c.849C>T (p.Val283=) | |
2 | g.127428416T>A | CA348404477 | PROC | c.856T>A (p.Phe286Ile) c.180T>A c.958T>A (p.Phe320Ile) c.1039T>A (p.Phe347Ile) c.1021T>A (p.Phe341Ile) c.919T>A (p.Phe307Ile) n.1332-152A>T c.1099T>A (p.Phe367Ile) c.1201T>A (p.Phe401Ile) c.1141T>A (p.Phe381Ile) n.3607-152A>T n.4043-152A>T c.1024T>A (p.Phe342Ile) c.1042T>A (p.Phe348Ile) c.799T>A (p.Phe267Ile) c.832T>A (p.Phe278Ile) c.850T>A (p.Phe284Ile) | |
2 | g.127428416T>C | CA348404478 | PROC | c.856T>C (p.Phe286Leu) c.180T>C c.958T>C (p.Phe320Leu) c.1039T>C (p.Phe347Leu) c.1021T>C (p.Phe341Leu) c.919T>C (p.Phe307Leu) n.1332-152A>G c.1099T>C (p.Phe367Leu) c.1201T>C (p.Phe401Leu) c.1141T>C (p.Phe381Leu) n.3607-152A>G n.4043-152A>G c.1024T>C (p.Phe342Leu) c.1042T>C (p.Phe348Leu) c.799T>C (p.Phe267Leu) c.832T>C (p.Phe278Leu) c.850T>C (p.Phe284Leu) | |
2 | g.127428416T>G | CA348404481 | PROC | c.856T>G (p.Phe286Val) c.180T>G c.958T>G (p.Phe320Val) c.1039T>G (p.Phe347Val) c.1021T>G (p.Phe341Val) c.919T>G (p.Phe307Val) n.1332-152A>C c.1099T>G (p.Phe367Val) c.1201T>G (p.Phe401Val) c.1141T>G (p.Phe381Val) n.3607-152A>C n.4043-152A>C c.1024T>G (p.Phe342Val) c.1042T>G (p.Phe348Val) c.799T>G (p.Phe267Val) c.832T>G (p.Phe278Val) c.850T>G (p.Phe284Val) | |
2 | g.127428417T>A | CA348404483 | PROC | c.857T>A (p.Phe286Tyr) c.181T>A c.959T>A (p.Phe320Tyr) c.1040T>A (p.Phe347Tyr) c.1022T>A (p.Phe341Tyr) c.920T>A (p.Phe307Tyr) n.1332-153A>T c.1100T>A (p.Phe367Tyr) c.1202T>A (p.Phe401Tyr) c.1142T>A (p.Phe381Tyr) n.3607-153A>T n.4043-153A>T c.1025T>A (p.Phe342Tyr) c.1043T>A (p.Phe348Tyr) c.800T>A (p.Phe267Tyr) c.833T>A (p.Phe278Tyr) c.851T>A (p.Phe284Tyr) | |
2 | g.127428417T>C | CA348404485 | PROC | c.857T>C (p.Phe286Ser) c.181T>C c.959T>C (p.Phe320Ser) c.1040T>C (p.Phe347Ser) c.1022T>C (p.Phe341Ser) c.920T>C (p.Phe307Ser) n.1332-153A>G c.1100T>C (p.Phe367Ser) c.1202T>C (p.Phe401Ser) c.1142T>C (p.Phe381Ser) n.3607-153A>G n.4043-153A>G c.1025T>C (p.Phe342Ser) c.1043T>C (p.Phe348Ser) c.800T>C (p.Phe267Ser) c.833T>C (p.Phe278Ser) c.851T>C (p.Phe284Ser) | gnomAD v4 |
2 | g.127428417T>G | CA348404487 | PROC | c.857T>G (p.Phe286Cys) c.181T>G c.959T>G (p.Phe320Cys) c.1040T>G (p.Phe347Cys) c.1022T>G (p.Phe341Cys) c.920T>G (p.Phe307Cys) n.1332-153A>C c.1100T>G (p.Phe367Cys) c.1202T>G (p.Phe401Cys) c.1142T>G (p.Phe381Cys) n.3607-153A>C n.4043-153A>C c.1025T>G (p.Phe342Cys) c.1043T>G (p.Phe348Cys) c.800T>G (p.Phe267Cys) c.833T>G (p.Phe278Cys) c.851T>G (p.Phe284Cys) | |
2 | g.127428418C>A | CA348404489 | PROC | c.858C>A (p.Phe286Leu) c.182C>A c.960C>A (p.Phe320Leu) c.1041C>A (p.Phe347Leu) c.1023C>A (p.Phe341Leu) c.921C>A (p.Phe307Leu) n.1332-154G>T c.1101C>A (p.Phe367Leu) c.1203C>A (p.Phe401Leu) c.1143C>A (p.Phe381Leu) n.3607-154G>T n.4043-154G>T c.1026C>A (p.Phe342Leu) c.1044C>A (p.Phe348Leu) c.801C>A (p.Phe267Leu) c.834C>A (p.Phe278Leu) c.852C>A (p.Phe284Leu) | |
2 | g.127428418C= | CA1286884455 | PROC | c.858C= (p.Phe286=) c.182C= c.960C= (p.Phe320=) c.1041C= (p.Phe347=) c.1023C= (p.Phe341=) c.921C= (p.Phe307=) n.1332-154G= c.1101C= (p.Phe367=) c.1203C= (p.Phe401=) c.1143C= (p.Phe381=) n.3607-154G= n.4043-154G= c.1026C= (p.Phe342=) c.1044C= (p.Phe348=) c.801C= (p.Phe267=) c.834C= (p.Phe278=) c.852C= (p.Phe284=) | |
2 | g.127428418C>G | CA348404491 | PROC | c.858C>G (p.Phe286Leu) c.182C>G c.960C>G (p.Phe320Leu) c.1041C>G (p.Phe347Leu) c.1023C>G (p.Phe341Leu) c.921C>G (p.Phe307Leu) n.1332-154G>C c.1101C>G (p.Phe367Leu) c.1203C>G (p.Phe401Leu) c.1143C>G (p.Phe381Leu) n.3607-154G>C n.4043-154G>C c.1026C>G (p.Phe342Leu) c.1044C>G (p.Phe348Leu) c.801C>G (p.Phe267Leu) c.834C>G (p.Phe278Leu) c.852C>G (p.Phe284Leu) | |
2 | g.127428418C>T | CA55350614 | PROC | c.858C>T (p.Phe286=) c.182C>T c.960C>T (p.Phe320=) c.1041C>T (p.Phe347=) c.1023C>T (p.Phe341=) c.921C>T (p.Phe307=) n.1332-154G>A c.1101C>T (p.Phe367=) c.1203C>T (p.Phe401=) c.1143C>T (p.Phe381=) n.3607-154G>A n.4043-154G>A c.1026C>T (p.Phe342=) c.1044C>T (p.Phe348=) c.801C>T (p.Phe267=) c.834C>T (p.Phe278=) c.852C>T (p.Phe284=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428419G>A | CA1859474 | PROC | c.859G>A (p.Val287Ile) c.183G>A c.961G>A (p.Val321Ile) c.1042G>A (p.Val348Ile) c.1024G>A (p.Val342Ile) c.922G>A (p.Val308Ile) n.1332-155C>T c.1102G>A (p.Val368Ile) c.1204G>A (p.Val402Ile) c.1144G>A (p.Val382Ile) n.3607-155C>T n.4043-155C>T c.1027G>A (p.Val343Ile) c.1045G>A (p.Val349Ile) c.802G>A (p.Val268Ile) c.835G>A (p.Val279Ile) c.853G>A (p.Val285Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428419G>C | CA348404494 | PROC | c.859G>C (p.Val287Leu) c.183G>C c.961G>C (p.Val321Leu) c.1042G>C (p.Val348Leu) c.1024G>C (p.Val342Leu) c.922G>C (p.Val308Leu) n.1332-155C>G c.1102G>C (p.Val368Leu) c.1204G>C (p.Val402Leu) c.1144G>C (p.Val382Leu) n.3607-155C>G n.4043-155C>G c.1027G>C (p.Val343Leu) c.1045G>C (p.Val349Leu) c.802G>C (p.Val268Leu) c.835G>C (p.Val279Leu) c.853G>C (p.Val285Leu) | |
2 | g.127428419G= | CA1286884456 | PROC | c.859G= (p.Val287=) c.183G= c.961G= (p.Val321=) c.1042G= (p.Val348=) c.1024G= (p.Val342=) c.922G= (p.Val308=) n.1332-155C= c.1102G= (p.Val368=) c.1204G= (p.Val402=) c.1144G= (p.Val382=) n.3607-155C= n.4043-155C= c.1027G= (p.Val343=) c.1045G= (p.Val349=) c.802G= (p.Val268=) c.835G= (p.Val279=) c.853G= (p.Val285=) | |
2 | g.127428419G>T | CA348404497 | PROC | c.859G>T (p.Val287Phe) c.183G>T c.961G>T (p.Val321Phe) c.1042G>T (p.Val348Phe) c.1024G>T (p.Val342Phe) c.922G>T (p.Val308Phe) n.1332-155C>A c.1102G>T (p.Val368Phe) c.1204G>T (p.Val402Phe) c.1144G>T (p.Val382Phe) n.3607-155C>A n.4043-155C>A c.1027G>T (p.Val343Phe) c.1045G>T (p.Val349Phe) c.802G>T (p.Val268Phe) c.835G>T (p.Val279Phe) c.853G>T (p.Val285Phe) | |
2 | g.127428420T>A | CA348404499 | PROC | c.860T>A (p.Val287Asp) c.184T>A c.962T>A (p.Val321Asp) c.1043T>A (p.Val348Asp) c.1025T>A (p.Val342Asp) c.923T>A (p.Val308Asp) n.1332-156A>T c.1103T>A (p.Val368Asp) c.1205T>A (p.Val402Asp) c.1145T>A (p.Val382Asp) n.3607-156A>T n.4043-156A>T c.1028T>A (p.Val343Asp) c.1046T>A (p.Val349Asp) c.803T>A (p.Val268Asp) c.836T>A (p.Val279Asp) c.854T>A (p.Val285Asp) | |
2 | g.127428420T>C | CA348404501 | PROC | c.860T>C (p.Val287Ala) c.184T>C c.962T>C (p.Val321Ala) c.1043T>C (p.Val348Ala) c.1025T>C (p.Val342Ala) c.923T>C (p.Val308Ala) n.1332-156A>G c.1103T>C (p.Val368Ala) c.1205T>C (p.Val402Ala) c.1145T>C (p.Val382Ala) n.3607-156A>G n.4043-156A>G c.1028T>C (p.Val343Ala) c.1046T>C (p.Val349Ala) c.803T>C (p.Val268Ala) c.836T>C (p.Val279Ala) c.854T>C (p.Val285Ala) | |
2 | g.127428420T>G | CA348404503 | PROC | c.860T>G (p.Val287Gly) c.184T>G c.962T>G (p.Val321Gly) c.1043T>G (p.Val348Gly) c.1025T>G (p.Val342Gly) c.923T>G (p.Val308Gly) n.1332-156A>C c.1103T>G (p.Val368Gly) c.1205T>G (p.Val402Gly) c.1145T>G (p.Val382Gly) n.3607-156A>C n.4043-156A>C c.1028T>G (p.Val343Gly) c.1046T>G (p.Val349Gly) c.803T>G (p.Val268Gly) c.836T>G (p.Val279Gly) c.854T>G (p.Val285Gly) | |
2 | g.127428421C>A | CA55350628 | PROC | c.861C>A (p.Val287=) c.185C>A c.963C>A (p.Val321=) c.1044C>A (p.Val348=) c.1026C>A (p.Val342=) c.924C>A (p.Val308=) n.1332-157G>T c.1104C>A (p.Val368=) c.1206C>A (p.Val402=) c.1146C>A (p.Val382=) n.3607-157G>T n.4043-157G>T c.1029C>A (p.Val343=) c.1047C>A (p.Val349=) c.804C>A (p.Val268=) c.837C>A (p.Val279=) c.855C>A (p.Val285=) | dbSNP gnomAD v4 |
2 | g.127428421C= | CA1286884457 | PROC | c.861C= (p.Val287=) c.185C= c.963C= (p.Val321=) c.1044C= (p.Val348=) c.1026C= (p.Val342=) c.924C= (p.Val308=) n.1332-157G= c.1104C= (p.Val368=) c.1206C= (p.Val402=) c.1146C= (p.Val382=) n.3607-157G= n.4043-157G= c.1029C= (p.Val343=) c.1047C= (p.Val349=) c.804C= (p.Val268=) c.837C= (p.Val279=) c.855C= (p.Val285=) | |
2 | g.127428421C>G | CA428618891 | PROC | c.861C>G (p.Val287=) c.185C>G c.963C>G (p.Val321=) c.1044C>G (p.Val348=) c.1026C>G (p.Val342=) c.924C>G (p.Val308=) n.1332-157G>C c.1104C>G (p.Val368=) c.1206C>G (p.Val402=) c.1146C>G (p.Val382=) n.3607-157G>C n.4043-157G>C c.1029C>G (p.Val343=) c.1047C>G (p.Val349=) c.804C>G (p.Val268=) c.837C>G (p.Val279=) c.855C>G (p.Val285=) | |
2 | g.127428421C>T | CA428618892 | PROC | c.861C>T (p.Val287=) c.185C>T c.963C>T (p.Val321=) c.1044C>T (p.Val348=) c.1026C>T (p.Val342=) c.924C>T (p.Val308=) n.1332-157G>A c.1104C>T (p.Val368=) c.1206C>T (p.Val402=) c.1146C>T (p.Val382=) n.3607-157G>A n.4043-157G>A c.1029C>T (p.Val343=) c.1047C>T (p.Val349=) c.804C>T (p.Val268=) c.837C>T (p.Val279=) c.855C>T (p.Val285=) | dbSNP |
2 | g.127428422C>A | CA348404506 | PROC | c.862C>A (p.His288Asn) c.186C>A c.964C>A (p.His322Asn) c.1045C>A (p.His349Asn) c.1027C>A (p.His343Asn) c.925C>A (p.His309Asn) n.1332-158G>T c.1105C>A (p.His369Asn) c.1207C>A (p.His403Asn) c.1147C>A (p.His383Asn) n.3607-158G>T n.4043-158G>T c.1030C>A (p.His344Asn) c.1048C>A (p.His350Asn) c.805C>A (p.His269Asn) c.838C>A (p.His280Asn) c.856C>A (p.His286Asn) | |
2 | g.127428422C= | CA1286884458 | PROC | c.862C= (p.His288=) c.186C= c.964C= (p.His322=) c.1045C= (p.His349=) c.1027C= (p.His343=) c.925C= (p.His309=) n.1332-158G= c.1105C= (p.His369=) c.1207C= (p.His403=) c.1147C= (p.His383=) n.3607-158G= n.4043-158G= c.1030C= (p.His344=) c.1048C= (p.His350=) c.805C= (p.His269=) c.838C= (p.His280=) c.856C= (p.His286=) | |
2 | g.127428422C>G | CA348404508 | PROC | c.862C>G (p.His288Asp) c.186C>G c.964C>G (p.His322Asp) c.1045C>G (p.His349Asp) c.1027C>G (p.His343Asp) c.925C>G (p.His309Asp) n.1332-158G>C c.1105C>G (p.His369Asp) c.1207C>G (p.His403Asp) c.1147C>G (p.His383Asp) n.3607-158G>C n.4043-158G>C c.1030C>G (p.His344Asp) c.1048C>G (p.His350Asp) c.805C>G (p.His269Asp) c.838C>G (p.His280Asp) c.856C>G (p.His286Asp) | |
2 | g.127428422C>T | CA348404509 | PROC | c.862C>T (p.His288Tyr) c.186C>T c.964C>T (p.His322Tyr) c.1045C>T (p.His349Tyr) c.1027C>T (p.His343Tyr) c.925C>T (p.His309Tyr) n.1332-158G>A c.1105C>T (p.His369Tyr) c.1207C>T (p.His403Tyr) c.1147C>T (p.His383Tyr) n.3607-158G>A n.4043-158G>A c.1030C>T (p.His344Tyr) c.1048C>T (p.His350Tyr) c.805C>T (p.His269Tyr) c.838C>T (p.His280Tyr) c.856C>T (p.His286Tyr) | ClinVar dbSNP gnomAD v4 |
2 | g.127428423A= | CA1286884459 | PROC | c.863A= (p.His288=) c.187A= c.965A= (p.His322=) c.1046A= (p.His349=) c.1028A= (p.His343=) c.926A= (p.His309=) n.1332-159T= c.1106A= (p.His369=) c.1208A= (p.His403=) c.1148A= (p.His383=) n.3607-159T= n.4043-159T= c.1031A= (p.His344=) c.1049A= (p.His350=) c.806A= (p.His269=) c.839A= (p.His280=) c.857A= (p.His286=) | |
2 | g.127428423A>C | CA348404512 | PROC | c.863A>C (p.His288Pro) c.187A>C c.965A>C (p.His322Pro) c.1046A>C (p.His349Pro) c.1028A>C (p.His343Pro) c.926A>C (p.His309Pro) n.1332-159T>G c.1106A>C (p.His369Pro) c.1208A>C (p.His403Pro) c.1148A>C (p.His383Pro) n.3607-159T>G n.4043-159T>G c.1031A>C (p.His344Pro) c.1049A>C (p.His350Pro) c.806A>C (p.His269Pro) c.839A>C (p.His280Pro) c.857A>C (p.His286Pro) | dbSNP |
2 | g.127428423A>G | CA348404514 | PROC | c.863A>G (p.His288Arg) c.187A>G c.965A>G (p.His322Arg) c.1046A>G (p.His349Arg) c.1028A>G (p.His343Arg) c.926A>G (p.His309Arg) n.1332-159T>C c.1106A>G (p.His369Arg) c.1208A>G (p.His403Arg) c.1148A>G (p.His383Arg) n.3607-159T>C n.4043-159T>C c.1031A>G (p.His344Arg) c.1049A>G (p.His350Arg) c.806A>G (p.His269Arg) c.839A>G (p.His280Arg) c.857A>G (p.His286Arg) | |
2 | g.127428423A>T | CA348404515 | PROC | c.863A>T (p.His288Leu) c.187A>T c.965A>T (p.His322Leu) c.1046A>T (p.His349Leu) c.1028A>T (p.His343Leu) c.926A>T (p.His309Leu) n.1332-159T>A c.1106A>T (p.His369Leu) c.1208A>T (p.His403Leu) c.1148A>T (p.His383Leu) n.3607-159T>A n.4043-159T>A c.1031A>T (p.His344Leu) c.1049A>T (p.His350Leu) c.806A>T (p.His269Leu) c.839A>T (p.His280Leu) c.857A>T (p.His286Leu) | |
2 | g.127428424C>A | CA348404518 | PROC | c.864C>A (p.His288Gln) c.188C>A c.966C>A (p.His322Gln) c.1047C>A (p.His349Gln) c.1029C>A (p.His343Gln) c.927C>A (p.His309Gln) n.1332-160G>T c.1107C>A (p.His369Gln) c.1209C>A (p.His403Gln) c.1149C>A (p.His383Gln) n.3607-160G>T n.4043-160G>T c.1032C>A (p.His344Gln) c.1050C>A (p.His350Gln) c.807C>A (p.His269Gln) c.840C>A (p.His280Gln) c.858C>A (p.His286Gln) | |
2 | g.127428424C= | CA1286884460 | PROC | c.864C= (p.His288=) c.188C= c.966C= (p.His322=) c.1047C= (p.His349=) c.1029C= (p.His343=) c.927C= (p.His309=) n.1332-160G= c.1107C= (p.His369=) c.1209C= (p.His403=) c.1149C= (p.His383=) n.3607-160G= n.4043-160G= c.1032C= (p.His344=) c.1050C= (p.His350=) c.807C= (p.His269=) c.840C= (p.His280=) c.858C= (p.His286=) | |
2 | g.127428424C>G | CA348404520 | PROC | c.864C>G (p.His288Gln) c.188C>G c.966C>G (p.His322Gln) c.1047C>G (p.His349Gln) c.1029C>G (p.His343Gln) c.927C>G (p.His309Gln) n.1332-160G>C c.1107C>G (p.His369Gln) c.1209C>G (p.His403Gln) c.1149C>G (p.His383Gln) n.3607-160G>C n.4043-160G>C c.1032C>G (p.His344Gln) c.1050C>G (p.His350Gln) c.807C>G (p.His269Gln) c.840C>G (p.His280Gln) c.858C>G (p.His286Gln) | |
2 | g.127428424C>T | CA1859475 | PROC | c.864C>T (p.His288=) c.188C>T c.966C>T (p.His322=) c.1047C>T (p.His349=) c.1029C>T (p.His343=) c.927C>T (p.His309=) n.1332-160G>A c.1107C>T (p.His369=) c.1209C>T (p.His403=) c.1149C>T (p.His383=) n.3607-160G>A n.4043-160G>A c.1032C>T (p.His344=) c.1050C>T (p.His350=) c.807C>T (p.His269=) c.840C>T (p.His280=) c.858C>T (p.His286=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428425C>A | CA348404523 | PROC | c.865C>A (p.Pro289Thr) c.189C>A c.967C>A (p.Pro323Thr) c.1048C>A (p.Pro350Thr) c.1030C>A (p.Pro344Thr) c.928C>A (p.Pro310Thr) n.1332-161G>T c.1108C>A (p.Pro370Thr) c.1210C>A (p.Pro404Thr) c.1150C>A (p.Pro384Thr) n.3607-161G>T n.4043-161G>T c.1033C>A (p.Pro345Thr) c.1051C>A (p.Pro351Thr) c.808C>A (p.Pro270Thr) c.841C>A (p.Pro281Thr) c.859C>A (p.Pro287Thr) | |
2 | g.127428425C= | CA1286884461 | PROC | c.865C= (p.Pro289=) c.189C= c.967C= (p.Pro323=) c.1048C= (p.Pro350=) c.1030C= (p.Pro344=) c.928C= (p.Pro310=) n.1332-161G= c.1108C= (p.Pro370=) c.1210C= (p.Pro404=) c.1150C= (p.Pro384=) n.3607-161G= n.4043-161G= c.1033C= (p.Pro345=) c.1051C= (p.Pro351=) c.808C= (p.Pro270=) c.841C= (p.Pro281=) c.859C= (p.Pro287=) | |
2 | g.127428425C>G | CA348404524 | PROC | c.865C>G (p.Pro289Ala) c.189C>G c.967C>G (p.Pro323Ala) c.1048C>G (p.Pro350Ala) c.1030C>G (p.Pro344Ala) c.928C>G (p.Pro310Ala) n.1332-161G>C c.1108C>G (p.Pro370Ala) c.1210C>G (p.Pro404Ala) c.1150C>G (p.Pro384Ala) n.3607-161G>C n.4043-161G>C c.1033C>G (p.Pro345Ala) c.1051C>G (p.Pro351Ala) c.808C>G (p.Pro270Ala) c.841C>G (p.Pro281Ala) c.859C>G (p.Pro287Ala) | dbSNP |
2 | g.127428425C>T | CA348404526 | PROC | c.865C>T (p.Pro289Ser) c.189C>T c.967C>T (p.Pro323Ser) c.1048C>T (p.Pro350Ser) c.1030C>T (p.Pro344Ser) c.928C>T (p.Pro310Ser) n.1332-161G>A c.1108C>T (p.Pro370Ser) c.1210C>T (p.Pro404Ser) c.1150C>T (p.Pro384Ser) n.3607-161G>A n.4043-161G>A c.1033C>T (p.Pro345Ser) c.1051C>T (p.Pro351Ser) c.808C>T (p.Pro270Ser) c.841C>T (p.Pro281Ser) c.859C>T (p.Pro287Ser) | |
2 | g.127428426C>A | CA348404528 | PROC | c.866C>A (p.Pro289His) c.190C>A c.968C>A (p.Pro323His) c.1049C>A (p.Pro350His) c.1031C>A (p.Pro344His) c.929C>A (p.Pro310His) n.1332-162G>T c.1109C>A (p.Pro370His) c.1211C>A (p.Pro404His) c.1151C>A (p.Pro384His) n.3607-162G>T n.4043-162G>T c.1034C>A (p.Pro345His) c.1052C>A (p.Pro351His) c.809C>A (p.Pro270His) c.842C>A (p.Pro281His) c.860C>A (p.Pro287His) | |
2 | g.127428426C= | CA1286884462 | PROC | c.866C= (p.Pro289=) c.190C= c.968C= (p.Pro323=) c.1049C= (p.Pro350=) c.1031C= (p.Pro344=) c.929C= (p.Pro310=) n.1332-162G= c.1109C= (p.Pro370=) c.1211C= (p.Pro404=) c.1151C= (p.Pro384=) n.3607-162G= n.4043-162G= c.1034C= (p.Pro345=) c.1052C= (p.Pro351=) c.809C= (p.Pro270=) c.842C= (p.Pro281=) c.860C= (p.Pro287=) | |
2 | g.127428426C>G | CA348404530 | PROC | c.866C>G (p.Pro289Arg) c.190C>G c.968C>G (p.Pro323Arg) c.1049C>G (p.Pro350Arg) c.1031C>G (p.Pro344Arg) c.929C>G (p.Pro310Arg) n.1332-162G>C c.1109C>G (p.Pro370Arg) c.1211C>G (p.Pro404Arg) c.1151C>G (p.Pro384Arg) n.3607-162G>C n.4043-162G>C c.1034C>G (p.Pro345Arg) c.1052C>G (p.Pro351Arg) c.809C>G (p.Pro270Arg) c.842C>G (p.Pro281Arg) c.860C>G (p.Pro287Arg) | gnomAD v4 |
2 | g.127428426C>T | CA114408 | PROC | c.866C>T (p.Pro289Leu) c.190C>T c.968C>T (p.Pro323Leu) c.1049C>T (p.Pro350Leu) c.1031C>T (p.Pro344Leu) c.929C>T (p.Pro310Leu) n.1332-162G>A c.1109C>T (p.Pro370Leu) c.1211C>T (p.Pro404Leu) c.1151C>T (p.Pro384Leu) n.3607-162G>A n.4043-162G>A c.1034C>T (p.Pro345Leu) c.1052C>T (p.Pro351Leu) c.809C>T (p.Pro270Leu) c.842C>T (p.Pro281Leu) c.860C>T (p.Pro287Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.127428427C>A | CA428618893 | PROC | c.867C>A (p.Pro289=) c.191C>A c.969C>A (p.Pro323=) c.1050C>A (p.Pro350=) c.1032C>A (p.Pro344=) c.930C>A (p.Pro310=) n.1332-163G>T c.1110C>A (p.Pro370=) c.1212C>A (p.Pro404=) c.1152C>A (p.Pro384=) n.3607-163G>T n.4043-163G>T c.1035C>A (p.Pro345=) c.1053C>A (p.Pro351=) c.810C>A (p.Pro270=) c.843C>A (p.Pro281=) c.861C>A (p.Pro287=) | |
2 | g.127428427C= | CA1286884463 | PROC | c.867C= (p.Pro289=) c.191C= c.969C= (p.Pro323=) c.1050C= (p.Pro350=) c.1032C= (p.Pro344=) c.930C= (p.Pro310=) n.1332-163G= c.1110C= (p.Pro370=) c.1212C= (p.Pro404=) c.1152C= (p.Pro384=) n.3607-163G= n.4043-163G= c.1035C= (p.Pro345=) c.1053C= (p.Pro351=) c.810C= (p.Pro270=) c.843C= (p.Pro281=) c.861C= (p.Pro287=) | |
2 | g.127428427C>G | CA428618894 | PROC | c.867C>G (p.Pro289=) c.191C>G c.969C>G (p.Pro323=) c.1050C>G (p.Pro350=) c.1032C>G (p.Pro344=) c.930C>G (p.Pro310=) n.1332-163G>C c.1110C>G (p.Pro370=) c.1212C>G (p.Pro404=) c.1152C>G (p.Pro384=) n.3607-163G>C n.4043-163G>C c.1035C>G (p.Pro345=) c.1053C>G (p.Pro351=) c.810C>G (p.Pro270=) c.843C>G (p.Pro281=) c.861C>G (p.Pro287=) | |
2 | g.127428427C>T | CA55350662 | PROC | c.867C>T (p.Pro289=) c.191C>T c.969C>T (p.Pro323=) c.1050C>T (p.Pro350=) c.1032C>T (p.Pro344=) c.930C>T (p.Pro310=) n.1332-163G>A c.1110C>T (p.Pro370=) c.1212C>T (p.Pro404=) c.1152C>T (p.Pro384=) n.3607-163G>A n.4043-163G>A c.1035C>T (p.Pro345=) c.1053C>T (p.Pro351=) c.810C>T (p.Pro270=) c.843C>T (p.Pro281=) c.861C>T (p.Pro287=) | dbSNP |
2 | g.127428428A= | CA1286884464 | PROC | c.868A= (p.Asn290=) c.192A= c.970A= (p.Asn324=) c.1051A= (p.Asn351=) c.1033A= (p.Asn345=) c.931A= (p.Asn311=) n.1332-164T= c.1111A= (p.Asn371=) c.1213A= (p.Asn405=) c.1153A= (p.Asn385=) n.3607-164T= n.4043-164T= c.1036A= (p.Asn346=) c.1054A= (p.Asn352=) c.811A= (p.Asn271=) c.844A= (p.Asn282=) c.862A= (p.Asn288=) | |
2 | g.127428428A>C | CA348404536 | PROC | c.868A>C (p.Asn290His) c.192A>C c.970A>C (p.Asn324His) c.1051A>C (p.Asn351His) c.1033A>C (p.Asn345His) c.931A>C (p.Asn311His) n.1332-164T>G c.1111A>C (p.Asn371His) c.1213A>C (p.Asn405His) c.1153A>C (p.Asn385His) n.3607-164T>G n.4043-164T>G c.1036A>C (p.Asn346His) c.1054A>C (p.Asn352His) c.811A>C (p.Asn271His) c.844A>C (p.Asn282His) c.862A>C (p.Asn288His) | |
2 | g.127428428A>G | CA348404538 | PROC | c.868A>G (p.Asn290Asp) c.192A>G c.970A>G (p.Asn324Asp) c.1051A>G (p.Asn351Asp) c.1033A>G (p.Asn345Asp) c.931A>G (p.Asn311Asp) n.1332-164T>C c.1111A>G (p.Asn371Asp) c.1213A>G (p.Asn405Asp) c.1153A>G (p.Asn385Asp) n.3607-164T>C n.4043-164T>C c.1036A>G (p.Asn346Asp) c.1054A>G (p.Asn352Asp) c.811A>G (p.Asn271Asp) c.844A>G (p.Asn282Asp) c.862A>G (p.Asn288Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428428A>T | CA348404534 | PROC | c.868A>T (p.Asn290Tyr) c.192A>T c.970A>T (p.Asn324Tyr) c.1051A>T (p.Asn351Tyr) c.1033A>T (p.Asn345Tyr) c.931A>T (p.Asn311Tyr) n.1332-164T>A c.1111A>T (p.Asn371Tyr) c.1213A>T (p.Asn405Tyr) c.1153A>T (p.Asn385Tyr) n.3607-164T>A n.4043-164T>A c.1036A>T (p.Asn346Tyr) c.1054A>T (p.Asn352Tyr) c.811A>T (p.Asn271Tyr) c.844A>T (p.Asn282Tyr) c.862A>T (p.Asn288Tyr) | |
2 | g.127428429A= | CA1286884465 | PROC | c.869A= (p.Asn290=) c.193A= c.971A= (p.Asn324=) c.1052A= (p.Asn351=) c.1034A= (p.Asn345=) c.932A= (p.Asn311=) n.1332-165T= c.1112A= (p.Asn371=) c.1214A= (p.Asn405=) c.1154A= (p.Asn385=) n.3607-165T= n.4043-165T= c.1037A= (p.Asn346=) c.1055A= (p.Asn352=) c.812A= (p.Asn271=) c.845A= (p.Asn282=) c.863A= (p.Asn288=) | |
2 | g.127428429A>C | CA348404542 | PROC | c.869A>C (p.Asn290Thr) c.193A>C c.971A>C (p.Asn324Thr) c.1052A>C (p.Asn351Thr) c.1034A>C (p.Asn345Thr) c.932A>C (p.Asn311Thr) n.1332-165T>G c.1112A>C (p.Asn371Thr) c.1214A>C (p.Asn405Thr) c.1154A>C (p.Asn385Thr) n.3607-165T>G n.4043-165T>G c.1037A>C (p.Asn346Thr) c.1055A>C (p.Asn352Thr) c.812A>C (p.Asn271Thr) c.845A>C (p.Asn282Thr) c.863A>C (p.Asn288Thr) | |
2 | g.127428429A>G | CA348404540 | PROC | c.869A>G (p.Asn290Ser) c.193A>G c.971A>G (p.Asn324Ser) c.1052A>G (p.Asn351Ser) c.1034A>G (p.Asn345Ser) c.932A>G (p.Asn311Ser) n.1332-165T>C c.1112A>G (p.Asn371Ser) c.1214A>G (p.Asn405Ser) c.1154A>G (p.Asn385Ser) n.3607-165T>C n.4043-165T>C c.1037A>G (p.Asn346Ser) c.1055A>G (p.Asn352Ser) c.812A>G (p.Asn271Ser) c.845A>G (p.Asn282Ser) c.863A>G (p.Asn288Ser) | dbSNP |
2 | g.127428429A>T | CA348404544 | PROC | c.869A>T (p.Asn290Ile) c.193A>T c.971A>T (p.Asn324Ile) c.1052A>T (p.Asn351Ile) c.1034A>T (p.Asn345Ile) c.932A>T (p.Asn311Ile) n.1332-165T>A c.1112A>T (p.Asn371Ile) c.1214A>T (p.Asn405Ile) c.1154A>T (p.Asn385Ile) n.3607-165T>A n.4043-165T>A c.1037A>T (p.Asn346Ile) c.1055A>T (p.Asn352Ile) c.812A>T (p.Asn271Ile) c.845A>T (p.Asn282Ile) c.863A>T (p.Asn288Ile) | |
2 | g.127428430C>A | CA348404546 | PROC | c.870C>A (p.Asn290Lys) c.194C>A c.972C>A (p.Asn324Lys) c.1053C>A (p.Asn351Lys) c.1035C>A (p.Asn345Lys) c.933C>A (p.Asn311Lys) n.1332-166G>T c.1113C>A (p.Asn371Lys) c.1215C>A (p.Asn405Lys) c.1155C>A (p.Asn385Lys) n.3607-166G>T n.4043-166G>T c.1038C>A (p.Asn346Lys) c.1056C>A (p.Asn352Lys) c.813C>A (p.Asn271Lys) c.846C>A (p.Asn282Lys) c.864C>A (p.Asn288Lys) | |
2 | g.127428430C>G | CA348404547 | PROC | c.870C>G (p.Asn290Lys) c.194C>G c.972C>G (p.Asn324Lys) c.1053C>G (p.Asn351Lys) c.1035C>G (p.Asn345Lys) c.933C>G (p.Asn311Lys) n.1332-166G>C c.1113C>G (p.Asn371Lys) c.1215C>G (p.Asn405Lys) c.1155C>G (p.Asn385Lys) n.3607-166G>C n.4043-166G>C c.1038C>G (p.Asn346Lys) c.1056C>G (p.Asn352Lys) c.813C>G (p.Asn271Lys) c.846C>G (p.Asn282Lys) c.864C>G (p.Asn288Lys) | gnomAD v4 |
2 | g.127428430C>T | CA428618895 | PROC | c.870C>T (p.Asn290=) c.194C>T c.972C>T (p.Asn324=) c.1053C>T (p.Asn351=) c.1035C>T (p.Asn345=) c.933C>T (p.Asn311=) n.1332-166G>A c.1113C>T (p.Asn371=) c.1215C>T (p.Asn405=) c.1155C>T (p.Asn385=) n.3607-166G>A n.4043-166G>A c.1038C>T (p.Asn346=) c.1056C>T (p.Asn352=) c.813C>T (p.Asn271=) c.846C>T (p.Asn282=) c.864C>T (p.Asn288=) | |
2 | g.127428431T>A | CA348404550 | PROC | c.871T>A (p.Tyr291Asn) c.195T>A c.973T>A (p.Tyr325Asn) c.1054T>A (p.Tyr352Asn) c.1036T>A (p.Tyr346Asn) c.934T>A (p.Tyr312Asn) n.1332-167A>T c.1114T>A (p.Tyr372Asn) c.1216T>A (p.Tyr406Asn) c.1156T>A (p.Tyr386Asn) n.3607-167A>T n.4043-167A>T c.1039T>A (p.Tyr347Asn) c.1057T>A (p.Tyr353Asn) c.814T>A (p.Tyr272Asn) c.847T>A (p.Tyr283Asn) c.865T>A (p.Tyr289Asn) | |
2 | g.127428431T>C | CA348404552 | PROC | c.871T>C (p.Tyr291His) c.195T>C c.973T>C (p.Tyr325His) c.1054T>C (p.Tyr352His) c.1036T>C (p.Tyr346His) c.934T>C (p.Tyr312His) n.1332-167A>G c.1114T>C (p.Tyr372His) c.1216T>C (p.Tyr406His) c.1156T>C (p.Tyr386His) n.3607-167A>G n.4043-167A>G c.1039T>C (p.Tyr347His) c.1057T>C (p.Tyr353His) c.814T>C (p.Tyr272His) c.847T>C (p.Tyr283His) c.865T>C (p.Tyr289His) | |
2 | g.127428431T>G | CA348404554 | PROC | c.871T>G (p.Tyr291Asp) c.195T>G c.973T>G (p.Tyr325Asp) c.1054T>G (p.Tyr352Asp) c.1036T>G (p.Tyr346Asp) c.934T>G (p.Tyr312Asp) n.1332-167A>C c.1114T>G (p.Tyr372Asp) c.1216T>G (p.Tyr406Asp) c.1156T>G (p.Tyr386Asp) n.3607-167A>C n.4043-167A>C c.1039T>G (p.Tyr347Asp) c.1057T>G (p.Tyr353Asp) c.814T>G (p.Tyr272Asp) c.847T>G (p.Tyr283Asp) c.865T>G (p.Tyr289Asp) | |
2 | g.127428432A>C | CA348404560 | PROC | c.872A>C (p.Tyr291Ser) c.196A>C c.974A>C (p.Tyr325Ser) c.1055A>C (p.Tyr352Ser) c.1037A>C (p.Tyr346Ser) c.935A>C (p.Tyr312Ser) n.1332-168T>G c.1115A>C (p.Tyr372Ser) c.1217A>C (p.Tyr406Ser) c.1157A>C (p.Tyr386Ser) n.3607-168T>G n.4043-168T>G c.1040A>C (p.Tyr347Ser) c.1058A>C (p.Tyr353Ser) c.815A>C (p.Tyr272Ser) c.848A>C (p.Tyr283Ser) c.866A>C (p.Tyr289Ser) | |
2 | g.127428432A>G | CA348404561 | PROC | c.872A>G (p.Tyr291Cys) c.196A>G c.974A>G (p.Tyr325Cys) c.1055A>G (p.Tyr352Cys) c.1037A>G (p.Tyr346Cys) c.935A>G (p.Tyr312Cys) n.1332-168T>C c.1115A>G (p.Tyr372Cys) c.1217A>G (p.Tyr406Cys) c.1157A>G (p.Tyr386Cys) n.3607-168T>C n.4043-168T>C c.1040A>G (p.Tyr347Cys) c.1058A>G (p.Tyr353Cys) c.815A>G (p.Tyr272Cys) c.848A>G (p.Tyr283Cys) c.866A>G (p.Tyr289Cys) | |
2 | g.127428432A>T | CA348404563 | PROC | c.872A>T (p.Tyr291Phe) c.196A>T c.974A>T (p.Tyr325Phe) c.1055A>T (p.Tyr352Phe) c.1037A>T (p.Tyr346Phe) c.935A>T (p.Tyr312Phe) n.1332-168T>A c.1115A>T (p.Tyr372Phe) c.1217A>T (p.Tyr406Phe) c.1157A>T (p.Tyr386Phe) n.3607-168T>A n.4043-168T>A c.1040A>T (p.Tyr347Phe) c.1058A>T (p.Tyr353Phe) c.815A>T (p.Tyr272Phe) c.848A>T (p.Tyr283Phe) c.866A>T (p.Tyr289Phe) | |
2 | g.127428433C>A | CA348404565 | PROC | c.873C>A (p.Tyr291Ter) c.197C>A c.975C>A (p.Tyr325Ter) c.1056C>A (p.Tyr352Ter) c.1038C>A (p.Tyr346Ter) c.936C>A (p.Tyr312Ter) n.1332-169G>T c.1116C>A (p.Tyr372Ter) c.1218C>A (p.Tyr406Ter) c.1158C>A (p.Tyr386Ter) n.3607-169G>T n.4043-169G>T c.1041C>A (p.Tyr347Ter) c.1059C>A (p.Tyr353Ter) c.816C>A (p.Tyr272Ter) c.849C>A (p.Tyr283Ter) c.867C>A (p.Tyr289Ter) | |
2 | g.127428433C>G | CA348404567 | PROC | c.873C>G (p.Tyr291Ter) c.197C>G c.975C>G (p.Tyr325Ter) c.1056C>G (p.Tyr352Ter) c.1038C>G (p.Tyr346Ter) c.936C>G (p.Tyr312Ter) n.1332-169G>C c.1116C>G (p.Tyr372Ter) c.1218C>G (p.Tyr406Ter) c.1158C>G (p.Tyr386Ter) n.3607-169G>C n.4043-169G>C c.1041C>G (p.Tyr347Ter) c.1059C>G (p.Tyr353Ter) c.816C>G (p.Tyr272Ter) c.849C>G (p.Tyr283Ter) c.867C>G (p.Tyr289Ter) | |
2 | g.127428433C>T | CA428618896 | PROC | c.873C>T (p.Tyr291=) c.197C>T c.975C>T (p.Tyr325=) c.1056C>T (p.Tyr352=) c.1038C>T (p.Tyr346=) c.936C>T (p.Tyr312=) n.1332-169G>A c.1116C>T (p.Tyr372=) c.1218C>T (p.Tyr406=) c.1158C>T (p.Tyr386=) n.3607-169G>A n.4043-169G>A c.1041C>T (p.Tyr347=) c.1059C>T (p.Tyr353=) c.816C>T (p.Tyr272=) c.849C>T (p.Tyr283=) c.867C>T (p.Tyr289=) | dbSNP |
2 | g.127428434A= | CA1286884466 | PROC | c.874A= (p.Ser292=) c.198A= c.976A= (p.Ser326=) c.1057A= (p.Ser353=) c.1039A= (p.Ser347=) c.937A= (p.Ser313=) n.1332-170T= c.1117A= (p.Ser373=) c.1219A= (p.Ser407=) c.1159A= (p.Ser387=) n.3607-170T= n.4043-170T= c.1042A= (p.Ser348=) c.1060A= (p.Ser354=) c.817A= (p.Ser273=) c.850A= (p.Ser284=) c.868A= (p.Ser290=) | |
2 | g.127428434A>C | CA348404569 | PROC | c.874A>C (p.Ser292Arg) c.198A>C c.976A>C (p.Ser326Arg) c.1057A>C (p.Ser353Arg) c.1039A>C (p.Ser347Arg) c.937A>C (p.Ser313Arg) n.1332-170T>G c.1117A>C (p.Ser373Arg) c.1219A>C (p.Ser407Arg) c.1159A>C (p.Ser387Arg) n.3607-170T>G n.4043-170T>G c.1042A>C (p.Ser348Arg) c.1060A>C (p.Ser354Arg) c.817A>C (p.Ser273Arg) c.850A>C (p.Ser284Arg) c.868A>C (p.Ser290Arg) | |
2 | g.127428434A>G | CA348404571 | PROC | c.874A>G (p.Ser292Gly) c.198A>G c.976A>G (p.Ser326Gly) c.1057A>G (p.Ser353Gly) c.1039A>G (p.Ser347Gly) c.937A>G (p.Ser313Gly) n.1332-170T>C c.1117A>G (p.Ser373Gly) c.1219A>G (p.Ser407Gly) c.1159A>G (p.Ser387Gly) n.3607-170T>C n.4043-170T>C c.1042A>G (p.Ser348Gly) c.1060A>G (p.Ser354Gly) c.817A>G (p.Ser273Gly) c.850A>G (p.Ser284Gly) c.868A>G (p.Ser290Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.127428434A>T | CA348404573 | PROC | c.874A>T (p.Ser292Cys) c.198A>T c.976A>T (p.Ser326Cys) c.1057A>T (p.Ser353Cys) c.1039A>T (p.Ser347Cys) c.937A>T (p.Ser313Cys) n.1332-170T>A c.1117A>T (p.Ser373Cys) c.1219A>T (p.Ser407Cys) c.1159A>T (p.Ser387Cys) n.3607-170T>A n.4043-170T>A c.1042A>T (p.Ser348Cys) c.1060A>T (p.Ser354Cys) c.817A>T (p.Ser273Cys) c.850A>T (p.Ser284Cys) c.868A>T (p.Ser290Cys) | |
2 | g.127428435G>A | CA1859476 | PROC | c.875G>A (p.Ser292Asn) c.199G>A c.977G>A (p.Ser326Asn) c.1058G>A (p.Ser353Asn) c.1040G>A (p.Ser347Asn) c.938G>A (p.Ser313Asn) n.1332-171C>T c.1118G>A (p.Ser373Asn) c.1220G>A (p.Ser407Asn) c.1160G>A (p.Ser387Asn) n.3607-171C>T n.4043-171C>T c.1043G>A (p.Ser348Asn) c.1061G>A (p.Ser354Asn) c.818G>A (p.Ser273Asn) c.851G>A (p.Ser284Asn) c.869G>A (p.Ser290Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428435G>C | CA348404576 | PROC | c.875G>C (p.Ser292Thr) c.199G>C c.977G>C (p.Ser326Thr) c.1058G>C (p.Ser353Thr) c.1040G>C (p.Ser347Thr) c.938G>C (p.Ser313Thr) n.1332-171C>G c.1118G>C (p.Ser373Thr) c.1220G>C (p.Ser407Thr) c.1160G>C (p.Ser387Thr) n.3607-171C>G n.4043-171C>G c.1043G>C (p.Ser348Thr) c.1061G>C (p.Ser354Thr) c.818G>C (p.Ser273Thr) c.851G>C (p.Ser284Thr) c.869G>C (p.Ser290Thr) | gnomAD v4 |
2 | g.127428435G= | CA1286884467 | PROC | c.875G= (p.Ser292=) c.199G= c.977G= (p.Ser326=) c.1058G= (p.Ser353=) c.1040G= (p.Ser347=) c.938G= (p.Ser313=) n.1332-171C= c.1118G= (p.Ser373=) c.1220G= (p.Ser407=) c.1160G= (p.Ser387=) n.3607-171C= n.4043-171C= c.1043G= (p.Ser348=) c.1061G= (p.Ser354=) c.818G= (p.Ser273=) c.851G= (p.Ser284=) c.869G= (p.Ser290=) | |
2 | g.127428435G>T | CA348404577 | PROC | c.875G>T (p.Ser292Ile) c.199G>T c.977G>T (p.Ser326Ile) c.1058G>T (p.Ser353Ile) c.1040G>T (p.Ser347Ile) c.938G>T (p.Ser313Ile) n.1332-171C>A c.1118G>T (p.Ser373Ile) c.1220G>T (p.Ser407Ile) c.1160G>T (p.Ser387Ile) n.3607-171C>A n.4043-171C>A c.1043G>T (p.Ser348Ile) c.1061G>T (p.Ser354Ile) c.818G>T (p.Ser273Ile) c.851G>T (p.Ser284Ile) c.869G>T (p.Ser290Ile) | |
2 | g.127428436C>A | CA348404580 | PROC | c.876C>A (p.Ser292Arg) c.200C>A c.978C>A (p.Ser326Arg) c.1059C>A (p.Ser353Arg) c.1041C>A (p.Ser347Arg) c.939C>A (p.Ser313Arg) n.1332-172G>T c.1119C>A (p.Ser373Arg) c.1221C>A (p.Ser407Arg) c.1161C>A (p.Ser387Arg) n.3607-172G>T n.4043-172G>T c.1044C>A (p.Ser348Arg) c.1062C>A (p.Ser354Arg) c.819C>A (p.Ser273Arg) c.852C>A (p.Ser284Arg) c.870C>A (p.Ser290Arg) | |
2 | g.127428436C= | CA1286884468 | PROC | c.876C= (p.Ser292=) c.200C= c.978C= (p.Ser326=) c.1059C= (p.Ser353=) c.1041C= (p.Ser347=) c.939C= (p.Ser313=) n.1332-172G= c.1119C= (p.Ser373=) c.1221C= (p.Ser407=) c.1161C= (p.Ser387=) n.3607-172G= n.4043-172G= c.1044C= (p.Ser348=) c.1062C= (p.Ser354=) c.819C= (p.Ser273=) c.852C= (p.Ser284=) c.870C= (p.Ser290=) | |
2 | g.127428436C>G | CA348404582 | PROC | c.876C>G (p.Ser292Arg) c.200C>G c.978C>G (p.Ser326Arg) c.1059C>G (p.Ser353Arg) c.1041C>G (p.Ser347Arg) c.939C>G (p.Ser313Arg) n.1332-172G>C c.1119C>G (p.Ser373Arg) c.1221C>G (p.Ser407Arg) c.1161C>G (p.Ser387Arg) n.3607-172G>C n.4043-172G>C c.1044C>G (p.Ser348Arg) c.1062C>G (p.Ser354Arg) c.819C>G (p.Ser273Arg) c.852C>G (p.Ser284Arg) c.870C>G (p.Ser290Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.127428436C>T | CA428618897 | PROC | c.876C>T (p.Ser292=) c.200C>T c.978C>T (p.Ser326=) c.1059C>T (p.Ser353=) c.1041C>T (p.Ser347=) c.939C>T (p.Ser313=) n.1332-172G>A c.1119C>T (p.Ser373=) c.1221C>T (p.Ser407=) c.1161C>T (p.Ser387=) n.3607-172G>A n.4043-172G>A c.1044C>T (p.Ser348=) c.1062C>T (p.Ser354=) c.819C>T (p.Ser273=) c.852C>T (p.Ser284=) c.870C>T (p.Ser290=) | dbSNP gnomAD v4 |
2 | g.127428437A= | CA1286884469 | PROC | c.877A= (p.Lys293=) c.201A= c.979A= (p.Lys327=) c.1060A= (p.Lys354=) c.1042A= (p.Lys348=) c.940A= (p.Lys314=) n.1332-173T= c.1120A= (p.Lys374=) c.1222A= (p.Lys408=) c.1162A= (p.Lys388=) n.3607-173T= n.4043-173T= c.1045A= (p.Lys349=) c.1063A= (p.Lys355=) c.820A= (p.Lys274=) c.853A= (p.Lys285=) c.871A= (p.Lys291=) | |
2 | g.127428437A>C | CA348404584 | PROC | c.877A>C (p.Lys293Gln) c.201A>C c.979A>C (p.Lys327Gln) c.1060A>C (p.Lys354Gln) c.1042A>C (p.Lys348Gln) c.940A>C (p.Lys314Gln) n.1332-173T>G c.1120A>C (p.Lys374Gln) c.1222A>C (p.Lys408Gln) c.1162A>C (p.Lys388Gln) n.3607-173T>G n.4043-173T>G c.1045A>C (p.Lys349Gln) c.1063A>C (p.Lys355Gln) c.820A>C (p.Lys274Gln) c.853A>C (p.Lys285Gln) c.871A>C (p.Lys291Gln) | gnomAD v4 |
2 | g.127428437A>G | CA348404585 | PROC | c.877A>G (p.Lys293Glu) c.201A>G c.979A>G (p.Lys327Glu) c.1060A>G (p.Lys354Glu) c.1042A>G (p.Lys348Glu) c.940A>G (p.Lys314Glu) n.1332-173T>C c.1120A>G (p.Lys374Glu) c.1222A>G (p.Lys408Glu) c.1162A>G (p.Lys388Glu) n.3607-173T>C n.4043-173T>C c.1045A>G (p.Lys349Glu) c.1063A>G (p.Lys355Glu) c.820A>G (p.Lys274Glu) c.853A>G (p.Lys285Glu) c.871A>G (p.Lys291Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428437A>T | CA348404587 | PROC | c.877A>T (p.Lys293Ter) c.201A>T c.979A>T (p.Lys327Ter) c.1060A>T (p.Lys354Ter) c.1042A>T (p.Lys348Ter) c.940A>T (p.Lys314Ter) n.1332-173T>A c.1120A>T (p.Lys374Ter) c.1222A>T (p.Lys408Ter) c.1162A>T (p.Lys388Ter) n.3607-173T>A n.4043-173T>A c.1045A>T (p.Lys349Ter) c.1063A>T (p.Lys355Ter) c.820A>T (p.Lys274Ter) c.853A>T (p.Lys285Ter) c.871A>T (p.Lys291Ter) | |
2 | g.127428438A= | CA1286884470 | PROC | c.878A= (p.Lys293=) c.202A= c.980A= (p.Lys327=) c.1061A= (p.Lys354=) c.1043A= (p.Lys348=) c.941A= (p.Lys314=) n.1332-174T= c.1121A= (p.Lys374=) c.1223A= (p.Lys408=) c.1163A= (p.Lys388=) n.3607-174T= n.4043-174T= c.1046A= (p.Lys349=) c.1064A= (p.Lys355=) c.821A= (p.Lys274=) c.854A= (p.Lys285=) c.872A= (p.Lys291=) | |
2 | g.127428438A>C | CA348404590 | PROC | c.878A>C (p.Lys293Thr) c.202A>C c.980A>C (p.Lys327Thr) c.1061A>C (p.Lys354Thr) c.1043A>C (p.Lys348Thr) c.941A>C (p.Lys314Thr) n.1332-174T>G c.1121A>C (p.Lys374Thr) c.1223A>C (p.Lys408Thr) c.1163A>C (p.Lys388Thr) n.3607-174T>G n.4043-174T>G c.1046A>C (p.Lys349Thr) c.1064A>C (p.Lys355Thr) c.821A>C (p.Lys274Thr) c.854A>C (p.Lys285Thr) c.872A>C (p.Lys291Thr) | |
2 | g.127428438A>G | CA1859477 | PROC | c.878A>G (p.Lys293Arg) c.202A>G c.980A>G (p.Lys327Arg) c.1061A>G (p.Lys354Arg) c.1043A>G (p.Lys348Arg) c.941A>G (p.Lys314Arg) n.1332-174T>C c.1121A>G (p.Lys374Arg) c.1223A>G (p.Lys408Arg) c.1163A>G (p.Lys388Arg) n.3607-174T>C n.4043-174T>C c.1046A>G (p.Lys349Arg) c.1064A>G (p.Lys355Arg) c.821A>G (p.Lys274Arg) c.854A>G (p.Lys285Arg) c.872A>G (p.Lys291Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428438A>T | CA348404593 | PROC | c.878A>T (p.Lys293Met) c.202A>T c.980A>T (p.Lys327Met) c.1061A>T (p.Lys354Met) c.1043A>T (p.Lys348Met) c.941A>T (p.Lys314Met) n.1332-174T>A c.1121A>T (p.Lys374Met) c.1223A>T (p.Lys408Met) c.1163A>T (p.Lys388Met) n.3607-174T>A n.4043-174T>A c.1046A>T (p.Lys349Met) c.1064A>T (p.Lys355Met) c.821A>T (p.Lys274Met) c.854A>T (p.Lys285Met) c.872A>T (p.Lys291Met) | |
2 | g.127428439G>A | CA428618898 | PROC | c.879G>A (p.Lys293=) c.203G>A c.981G>A (p.Lys327=) c.1062G>A (p.Lys354=) c.1044G>A (p.Lys348=) c.942G>A (p.Lys314=) n.1332-175C>T c.1122G>A (p.Lys374=) c.1224G>A (p.Lys408=) c.1164G>A (p.Lys388=) n.3607-175C>T n.4043-175C>T c.1047G>A (p.Lys349=) c.1065G>A (p.Lys355=) c.822G>A (p.Lys274=) c.855G>A (p.Lys285=) c.873G>A (p.Lys291=) | |
2 | g.127428439G>C | CA348404596 | PROC | c.879G>C (p.Lys293Asn) c.203G>C c.981G>C (p.Lys327Asn) c.1062G>C (p.Lys354Asn) c.1044G>C (p.Lys348Asn) c.942G>C (p.Lys314Asn) n.1332-175C>G c.1122G>C (p.Lys374Asn) c.1224G>C (p.Lys408Asn) c.1164G>C (p.Lys388Asn) n.3607-175C>G n.4043-175C>G c.1047G>C (p.Lys349Asn) c.1065G>C (p.Lys355Asn) c.822G>C (p.Lys274Asn) c.855G>C (p.Lys285Asn) c.873G>C (p.Lys291Asn) | |
2 | g.127428439G>T | CA348404597 | PROC | c.879G>T (p.Lys293Asn) c.203G>T c.981G>T (p.Lys327Asn) c.1062G>T (p.Lys354Asn) c.1044G>T (p.Lys348Asn) c.942G>T (p.Lys314Asn) n.1332-175C>A c.1122G>T (p.Lys374Asn) c.1224G>T (p.Lys408Asn) c.1164G>T (p.Lys388Asn) n.3607-175C>A n.4043-175C>A c.1047G>T (p.Lys349Asn) c.1065G>T (p.Lys355Asn) c.822G>T (p.Lys274Asn) c.855G>T (p.Lys285Asn) c.873G>T (p.Lys291Asn) | |
2 | g.127428440A= | CA1286884471 | PROC | c.880A= (p.Ser294=) c.204A= c.982A= (p.Ser328=) c.1063A= (p.Ser355=) c.1045A= (p.Ser349=) c.943A= (p.Ser315=) n.1332-176T= c.1123A= (p.Ser375=) c.1225A= (p.Ser409=) c.1165A= (p.Ser389=) n.3607-176T= n.4043-176T= c.1048A= (p.Ser350=) c.1066A= (p.Ser356=) c.823A= (p.Ser275=) c.856A= (p.Ser286=) c.874A= (p.Ser292=) | |
2 | g.127428440A>C | CA348404599 | PROC | c.880A>C (p.Ser294Arg) c.204A>C c.982A>C (p.Ser328Arg) c.1063A>C (p.Ser355Arg) c.1045A>C (p.Ser349Arg) c.943A>C (p.Ser315Arg) n.1332-176T>G c.1123A>C (p.Ser375Arg) c.1225A>C (p.Ser409Arg) c.1165A>C (p.Ser389Arg) n.3607-176T>G n.4043-176T>G c.1048A>C (p.Ser350Arg) c.1066A>C (p.Ser356Arg) c.823A>C (p.Ser275Arg) c.856A>C (p.Ser286Arg) c.874A>C (p.Ser292Arg) | |
2 | g.127428440A>G | CA348404601 | PROC | c.880A>G (p.Ser294Gly) c.204A>G c.982A>G (p.Ser328Gly) c.1063A>G (p.Ser355Gly) c.1045A>G (p.Ser349Gly) c.943A>G (p.Ser315Gly) n.1332-176T>C c.1123A>G (p.Ser375Gly) c.1225A>G (p.Ser409Gly) c.1165A>G (p.Ser389Gly) n.3607-176T>C n.4043-176T>C c.1048A>G (p.Ser350Gly) c.1066A>G (p.Ser356Gly) c.823A>G (p.Ser275Gly) c.856A>G (p.Ser286Gly) c.874A>G (p.Ser292Gly) | |
2 | g.127428440A>T | CA348404603 | PROC | c.880A>T (p.Ser294Cys) c.204A>T c.982A>T (p.Ser328Cys) c.1063A>T (p.Ser355Cys) c.1045A>T (p.Ser349Cys) c.943A>T (p.Ser315Cys) n.1332-176T>A c.1123A>T (p.Ser375Cys) c.1225A>T (p.Ser409Cys) c.1165A>T (p.Ser389Cys) n.3607-176T>A n.4043-176T>A c.1048A>T (p.Ser350Cys) c.1066A>T (p.Ser356Cys) c.823A>T (p.Ser275Cys) c.856A>T (p.Ser286Cys) c.874A>T (p.Ser292Cys) | gnomAD v4 |
2 | g.127428441G>A | CA1859478 | PROC | c.881G>A (p.Ser294Asn) c.205G>A c.983G>A (p.Ser328Asn) c.1064G>A (p.Ser355Asn) c.1046G>A (p.Ser349Asn) c.944G>A (p.Ser315Asn) n.1332-177C>T c.1124G>A (p.Ser375Asn) c.1226G>A (p.Ser409Asn) c.1166G>A (p.Ser389Asn) n.3607-177C>T n.4043-177C>T c.1049G>A (p.Ser350Asn) c.1067G>A (p.Ser356Asn) c.824G>A (p.Ser275Asn) c.857G>A (p.Ser286Asn) c.875G>A (p.Ser292Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428441G>C | CA348404606 | PROC | c.881G>C (p.Ser294Thr) c.205G>C c.983G>C (p.Ser328Thr) c.1064G>C (p.Ser355Thr) c.1046G>C (p.Ser349Thr) c.944G>C (p.Ser315Thr) n.1332-177C>G c.1124G>C (p.Ser375Thr) c.1226G>C (p.Ser409Thr) c.1166G>C (p.Ser389Thr) n.3607-177C>G n.4043-177C>G c.1049G>C (p.Ser350Thr) c.1067G>C (p.Ser356Thr) c.824G>C (p.Ser275Thr) c.857G>C (p.Ser286Thr) c.875G>C (p.Ser292Thr) | dbSNP gnomAD v4 |
2 | g.127428441G= | CA1286884473 | PROC | c.881G= (p.Ser294=) c.205G= c.983G= (p.Ser328=) c.1064G= (p.Ser355=) c.1046G= (p.Ser349=) c.944G= (p.Ser315=) n.1332-177C= c.1124G= (p.Ser375=) c.1226G= (p.Ser409=) c.1166G= (p.Ser389=) n.3607-177C= n.4043-177C= c.1049G= (p.Ser350=) c.1067G= (p.Ser356=) c.824G= (p.Ser275=) c.857G= (p.Ser286=) c.875G= (p.Ser292=) | |
2 | g.127428441G>T | CA348404604 | PROC | c.881G>T (p.Ser294Ile) c.205G>T c.983G>T (p.Ser328Ile) c.1064G>T (p.Ser355Ile) c.1046G>T (p.Ser349Ile) c.944G>T (p.Ser315Ile) n.1332-177C>A c.1124G>T (p.Ser375Ile) c.1226G>T (p.Ser409Ile) c.1166G>T (p.Ser389Ile) n.3607-177C>A n.4043-177C>A c.1049G>T (p.Ser350Ile) c.1067G>T (p.Ser356Ile) c.824G>T (p.Ser275Ile) c.857G>T (p.Ser286Ile) c.875G>T (p.Ser292Ile) | |
2 | g.127428441_127428445dup | CA1286884472 | PROC | c.881_885dup (p.Thr296AlafsTer22) c.205_209dup c.983_987dup (p.Thr330AlafsTer22) c.1064_1068dup (p.Thr357AlafsTer22) c.1046_1050dup (p.Thr351AlafsTer22) c.944_948dup (p.Thr317AlafsTer22) n.1332-181_1332-177dup c.1124_1128dup (p.Thr377AlafsTer22) c.1226_1230dup (p.Thr411AlafsTer22) c.1166_1170dup (p.Thr391AlafsTer22) n.3607-181_3607-177dup n.4043-181_4043-177dup c.1049_1053dup (p.Thr352AlafsTer22) c.1067_1071dup (p.Thr358AlafsTer22) c.824_828dup (p.Thr277AlafsTer22) c.857_861dup (p.Thr288AlafsTer22) c.875_879dup (p.Thr294AlafsTer22) | dbSNP |
2 | g.127428442C>A | CA348404608 | PROC | c.882C>A (p.Ser294Arg) c.206C>A c.984C>A (p.Ser328Arg) c.1065C>A (p.Ser355Arg) c.1047C>A (p.Ser349Arg) c.945C>A (p.Ser315Arg) n.1332-178G>T c.1125C>A (p.Ser375Arg) c.1227C>A (p.Ser409Arg) c.1167C>A (p.Ser389Arg) n.3607-178G>T n.4043-178G>T c.1050C>A (p.Ser350Arg) c.1068C>A (p.Ser356Arg) c.825C>A (p.Ser275Arg) c.858C>A (p.Ser286Arg) c.876C>A (p.Ser292Arg) | |
2 | g.127428442C>G | CA348404609 | PROC | c.882C>G (p.Ser294Arg) c.206C>G c.984C>G (p.Ser328Arg) c.1065C>G (p.Ser355Arg) c.1047C>G (p.Ser349Arg) c.945C>G (p.Ser315Arg) n.1332-178G>C c.1125C>G (p.Ser375Arg) c.1227C>G (p.Ser409Arg) c.1167C>G (p.Ser389Arg) n.3607-178G>C n.4043-178G>C c.1050C>G (p.Ser350Arg) c.1068C>G (p.Ser356Arg) c.825C>G (p.Ser275Arg) c.858C>G (p.Ser286Arg) c.876C>G (p.Ser292Arg) | |
2 | g.127428442C>T | CA428618899 | PROC | c.882C>T (p.Ser294=) c.206C>T c.984C>T (p.Ser328=) c.1065C>T (p.Ser355=) c.1047C>T (p.Ser349=) c.945C>T (p.Ser315=) n.1332-178G>A c.1125C>T (p.Ser375=) c.1227C>T (p.Ser409=) c.1167C>T (p.Ser389=) n.3607-178G>A n.4043-178G>A c.1050C>T (p.Ser350=) c.1068C>T (p.Ser356=) c.825C>T (p.Ser275=) c.858C>T (p.Ser286=) c.876C>T (p.Ser292=) | |
2 | g.127428443A= | CA1286884474 | PROC | c.883A= (p.Thr295=) c.207A= c.985A= (p.Thr329=) c.1066A= (p.Thr356=) c.1048A= (p.Thr350=) c.946A= (p.Thr316=) n.1332-179T= c.1126A= (p.Thr376=) c.1228A= (p.Thr410=) c.1168A= (p.Thr390=) n.3607-179T= n.4043-179T= c.1051A= (p.Thr351=) c.1069A= (p.Thr357=) c.826A= (p.Thr276=) c.859A= (p.Thr287=) c.877A= (p.Thr293=) | |
2 | g.127428443A>C | CA348404612 | PROC | c.883A>C (p.Thr295Pro) c.207A>C c.985A>C (p.Thr329Pro) c.1066A>C (p.Thr356Pro) c.1048A>C (p.Thr350Pro) c.946A>C (p.Thr316Pro) n.1332-179T>G c.1126A>C (p.Thr376Pro) c.1228A>C (p.Thr410Pro) c.1168A>C (p.Thr390Pro) n.3607-179T>G n.4043-179T>G c.1051A>C (p.Thr351Pro) c.1069A>C (p.Thr357Pro) c.826A>C (p.Thr276Pro) c.859A>C (p.Thr287Pro) c.877A>C (p.Thr293Pro) | dbSNP |
2 | g.127428443A>G | CA348404614 | PROC | c.883A>G (p.Thr295Ala) c.207A>G c.985A>G (p.Thr329Ala) c.1066A>G (p.Thr356Ala) c.1048A>G (p.Thr350Ala) c.946A>G (p.Thr316Ala) n.1332-179T>C c.1126A>G (p.Thr376Ala) c.1228A>G (p.Thr410Ala) c.1168A>G (p.Thr390Ala) n.3607-179T>C n.4043-179T>C c.1051A>G (p.Thr351Ala) c.1069A>G (p.Thr357Ala) c.826A>G (p.Thr276Ala) c.859A>G (p.Thr287Ala) c.877A>G (p.Thr293Ala) | |
2 | g.127428443A>T | CA348404615 | PROC | c.883A>T (p.Thr295Ser) c.207A>T c.985A>T (p.Thr329Ser) c.1066A>T (p.Thr356Ser) c.1048A>T (p.Thr350Ser) c.946A>T (p.Thr316Ser) n.1332-179T>A c.1126A>T (p.Thr376Ser) c.1228A>T (p.Thr410Ser) c.1168A>T (p.Thr390Ser) n.3607-179T>A n.4043-179T>A c.1051A>T (p.Thr351Ser) c.1069A>T (p.Thr357Ser) c.826A>T (p.Thr276Ser) c.859A>T (p.Thr287Ser) c.877A>T (p.Thr293Ser) | |
2 | g.127428444C>A | CA348404617 | PROC | c.884C>A (p.Thr295Asn) c.208C>A c.986C>A (p.Thr329Asn) c.1067C>A (p.Thr356Asn) c.1049C>A (p.Thr350Asn) c.947C>A (p.Thr316Asn) n.1332-180G>T c.1127C>A (p.Thr376Asn) c.1229C>A (p.Thr410Asn) c.1169C>A (p.Thr390Asn) n.3607-180G>T n.4043-180G>T c.1052C>A (p.Thr351Asn) c.1070C>A (p.Thr357Asn) c.827C>A (p.Thr276Asn) c.860C>A (p.Thr287Asn) c.878C>A (p.Thr293Asn) | |
2 | g.127428444C= | CA1286884475 | PROC | c.884C= (p.Thr295=) c.208C= c.986C= (p.Thr329=) c.1067C= (p.Thr356=) c.1049C= (p.Thr350=) c.947C= (p.Thr316=) n.1332-180G= c.1127C= (p.Thr376=) c.1229C= (p.Thr410=) c.1169C= (p.Thr390=) n.3607-180G= n.4043-180G= c.1052C= (p.Thr351=) c.1070C= (p.Thr357=) c.827C= (p.Thr276=) c.860C= (p.Thr287=) c.878C= (p.Thr293=) | |
2 | g.127428444C>G | CA348404619 | PROC | c.884C>G (p.Thr295Ser) c.208C>G c.986C>G (p.Thr329Ser) c.1067C>G (p.Thr356Ser) c.1049C>G (p.Thr350Ser) c.947C>G (p.Thr316Ser) n.1332-180G>C c.1127C>G (p.Thr376Ser) c.1229C>G (p.Thr410Ser) c.1169C>G (p.Thr390Ser) n.3607-180G>C n.4043-180G>C c.1052C>G (p.Thr351Ser) c.1070C>G (p.Thr357Ser) c.827C>G (p.Thr276Ser) c.860C>G (p.Thr287Ser) c.878C>G (p.Thr293Ser) | |
2 | g.127428444C>T | CA1859479 | PROC | c.884C>T (p.Thr295Ile) c.208C>T c.986C>T (p.Thr329Ile) c.1067C>T (p.Thr356Ile) c.1049C>T (p.Thr350Ile) c.947C>T (p.Thr316Ile) n.1332-180G>A c.1127C>T (p.Thr376Ile) c.1229C>T (p.Thr410Ile) c.1169C>T (p.Thr390Ile) n.3607-180G>A n.4043-180G>A c.1052C>T (p.Thr351Ile) c.1070C>T (p.Thr357Ile) c.827C>T (p.Thr276Ile) c.860C>T (p.Thr287Ile) c.878C>T (p.Thr293Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428445C>A | CA428618900 | PROC | c.885C>A (p.Thr295=) c.209C>A c.987C>A (p.Thr329=) c.1068C>A (p.Thr356=) c.1050C>A (p.Thr350=) c.948C>A (p.Thr316=) n.1332-181G>T c.1128C>A (p.Thr376=) c.1230C>A (p.Thr410=) c.1170C>A (p.Thr390=) n.3607-181G>T n.4043-181G>T c.1053C>A (p.Thr351=) c.1071C>A (p.Thr357=) c.828C>A (p.Thr276=) c.861C>A (p.Thr287=) c.879C>A (p.Thr293=) | dbSNP |
2 | g.127428445C= | CA1286884476 | PROC | c.885C= (p.Thr295=) c.209C= c.987C= (p.Thr329=) c.1068C= (p.Thr356=) c.1050C= (p.Thr350=) c.948C= (p.Thr316=) n.1332-181G= c.1128C= (p.Thr376=) c.1230C= (p.Thr410=) c.1170C= (p.Thr390=) n.3607-181G= n.4043-181G= c.1053C= (p.Thr351=) c.1071C= (p.Thr357=) c.828C= (p.Thr276=) c.861C= (p.Thr287=) c.879C= (p.Thr293=) | |
2 | g.127428445C>G | CA428618901 | PROC | c.885C>G (p.Thr295=) c.209C>G c.987C>G (p.Thr329=) c.1068C>G (p.Thr356=) c.1050C>G (p.Thr350=) c.948C>G (p.Thr316=) n.1332-181G>C c.1128C>G (p.Thr376=) c.1230C>G (p.Thr410=) c.1170C>G (p.Thr390=) n.3607-181G>C n.4043-181G>C c.1053C>G (p.Thr351=) c.1071C>G (p.Thr357=) c.828C>G (p.Thr276=) c.861C>G (p.Thr287=) c.879C>G (p.Thr293=) | |
2 | g.127428445C>T | CA428618902 | PROC | c.885C>T (p.Thr295=) c.209C>T c.987C>T (p.Thr329=) c.1068C>T (p.Thr356=) c.1050C>T (p.Thr350=) c.948C>T (p.Thr316=) n.1332-181G>A c.1128C>T (p.Thr376=) c.1230C>T (p.Thr410=) c.1170C>T (p.Thr390=) n.3607-181G>A n.4043-181G>A c.1053C>T (p.Thr351=) c.1071C>T (p.Thr357=) c.828C>T (p.Thr276=) c.861C>T (p.Thr287=) c.879C>T (p.Thr293=) | |
2 | g.127428446A= | CA1286884477 | PROC | c.886A= (p.Thr296=) c.210A= c.988A= (p.Thr330=) c.1069A= (p.Thr357=) c.1051A= (p.Thr351=) c.949A= (p.Thr317=) n.1332-182T= c.1129A= (p.Thr377=) c.1231A= (p.Thr411=) c.1171A= (p.Thr391=) n.3607-182T= n.4043-182T= c.1054A= (p.Thr352=) c.1072A= (p.Thr358=) c.829A= (p.Thr277=) c.862A= (p.Thr288=) c.880A= (p.Thr294=) | |
2 | g.127428446A>C | CA348404621 | PROC | c.886A>C (p.Thr296Pro) c.210A>C c.988A>C (p.Thr330Pro) c.1069A>C (p.Thr357Pro) c.1051A>C (p.Thr351Pro) c.949A>C (p.Thr317Pro) n.1332-182T>G c.1129A>C (p.Thr377Pro) c.1231A>C (p.Thr411Pro) c.1171A>C (p.Thr391Pro) n.3607-182T>G n.4043-182T>G c.1054A>C (p.Thr352Pro) c.1072A>C (p.Thr358Pro) c.829A>C (p.Thr277Pro) c.862A>C (p.Thr288Pro) c.880A>C (p.Thr294Pro) | dbSNP |
2 | g.127428446A>G | CA348404622 | PROC | c.886A>G (p.Thr296Ala) c.210A>G c.988A>G (p.Thr330Ala) c.1069A>G (p.Thr357Ala) c.1051A>G (p.Thr351Ala) c.949A>G (p.Thr317Ala) n.1332-182T>C c.1129A>G (p.Thr377Ala) c.1231A>G (p.Thr411Ala) c.1171A>G (p.Thr391Ala) n.3607-182T>C n.4043-182T>C c.1054A>G (p.Thr352Ala) c.1072A>G (p.Thr358Ala) c.829A>G (p.Thr277Ala) c.862A>G (p.Thr288Ala) c.880A>G (p.Thr294Ala) | |
2 | g.127428446A>T | CA348404623 | PROC | c.886A>T (p.Thr296Ser) c.210A>T c.988A>T (p.Thr330Ser) c.1069A>T (p.Thr357Ser) c.1051A>T (p.Thr351Ser) c.949A>T (p.Thr317Ser) n.1332-182T>A c.1129A>T (p.Thr377Ser) c.1231A>T (p.Thr411Ser) c.1171A>T (p.Thr391Ser) n.3607-182T>A n.4043-182T>A c.1054A>T (p.Thr352Ser) c.1072A>T (p.Thr358Ser) c.829A>T (p.Thr277Ser) c.862A>T (p.Thr288Ser) c.880A>T (p.Thr294Ser) | |
2 | g.127428447C>A | CA348404624 | PROC | c.887C>A (p.Thr296Asn) c.211C>A c.989C>A (p.Thr330Asn) c.1070C>A (p.Thr357Asn) c.1052C>A (p.Thr351Asn) c.950C>A (p.Thr317Asn) n.1332-183G>T c.1130C>A (p.Thr377Asn) c.1232C>A (p.Thr411Asn) c.1172C>A (p.Thr391Asn) n.3607-183G>T n.4043-183G>T c.1055C>A (p.Thr352Asn) c.1073C>A (p.Thr358Asn) c.830C>A (p.Thr277Asn) c.863C>A (p.Thr288Asn) c.881C>A (p.Thr294Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428447C= | CA1286884478 | PROC | c.887C= (p.Thr296=) c.211C= c.989C= (p.Thr330=) c.1070C= (p.Thr357=) c.1052C= (p.Thr351=) c.950C= (p.Thr317=) n.1332-183G= c.1130C= (p.Thr377=) c.1232C= (p.Thr411=) c.1172C= (p.Thr391=) n.3607-183G= n.4043-183G= c.1055C= (p.Thr352=) c.1073C= (p.Thr358=) c.830C= (p.Thr277=) c.863C= (p.Thr288=) c.881C= (p.Thr294=) | |
2 | g.127428447C>G | CA348404626 | PROC | c.887C>G (p.Thr296Ser) c.211C>G c.989C>G (p.Thr330Ser) c.1070C>G (p.Thr357Ser) c.1052C>G (p.Thr351Ser) c.950C>G (p.Thr317Ser) n.1332-183G>C c.1130C>G (p.Thr377Ser) c.1232C>G (p.Thr411Ser) c.1172C>G (p.Thr391Ser) n.3607-183G>C n.4043-183G>C c.1055C>G (p.Thr352Ser) c.1073C>G (p.Thr358Ser) c.830C>G (p.Thr277Ser) c.863C>G (p.Thr288Ser) c.881C>G (p.Thr294Ser) | |
2 | g.127428447C>T | CA348404631 | PROC | c.887C>T (p.Thr296Ile) c.211C>T c.989C>T (p.Thr330Ile) c.1070C>T (p.Thr357Ile) c.1052C>T (p.Thr351Ile) c.950C>T (p.Thr317Ile) n.1332-183G>A c.1130C>T (p.Thr377Ile) c.1232C>T (p.Thr411Ile) c.1172C>T (p.Thr391Ile) n.3607-183G>A n.4043-183G>A c.1055C>T (p.Thr352Ile) c.1073C>T (p.Thr358Ile) c.830C>T (p.Thr277Ile) c.863C>T (p.Thr288Ile) c.881C>T (p.Thr294Ile) | |
2 | g.127428448C>A | CA428618903 | PROC | c.888C>A (p.Thr296=) c.212C>A c.990C>A (p.Thr330=) c.1071C>A (p.Thr357=) c.1053C>A (p.Thr351=) c.951C>A (p.Thr317=) n.1332-184G>T c.1131C>A (p.Thr377=) c.1233C>A (p.Thr411=) c.1173C>A (p.Thr391=) n.3607-184G>T n.4043-184G>T c.1056C>A (p.Thr352=) c.1074C>A (p.Thr358=) c.831C>A (p.Thr277=) c.864C>A (p.Thr288=) c.882C>A (p.Thr294=) | |
2 | g.127428448C= | CA1286884479 | PROC | c.888C= (p.Thr296=) c.212C= c.990C= (p.Thr330=) c.1071C= (p.Thr357=) c.1053C= (p.Thr351=) c.951C= (p.Thr317=) n.1332-184G= c.1131C= (p.Thr377=) c.1233C= (p.Thr411=) c.1173C= (p.Thr391=) n.3607-184G= n.4043-184G= c.1056C= (p.Thr352=) c.1074C= (p.Thr358=) c.831C= (p.Thr277=) c.864C= (p.Thr288=) c.882C= (p.Thr294=) | |
2 | g.127428448C>G | CA428618904 | PROC | c.888C>G (p.Thr296=) c.212C>G c.990C>G (p.Thr330=) c.1071C>G (p.Thr357=) c.1053C>G (p.Thr351=) c.951C>G (p.Thr317=) n.1332-184G>C c.1131C>G (p.Thr377=) c.1233C>G (p.Thr411=) c.1173C>G (p.Thr391=) n.3607-184G>C n.4043-184G>C c.1056C>G (p.Thr352=) c.1074C>G (p.Thr358=) c.831C>G (p.Thr277=) c.864C>G (p.Thr288=) c.882C>G (p.Thr294=) | COSMIC COSMIC |
2 | g.127428448C>T | CA1859480 | PROC | c.888C>T (p.Thr296=) c.212C>T c.990C>T (p.Thr330=) c.1071C>T (p.Thr357=) c.1053C>T (p.Thr351=) c.951C>T (p.Thr317=) n.1332-184G>A c.1131C>T (p.Thr377=) c.1233C>T (p.Thr411=) c.1173C>T (p.Thr391=) n.3607-184G>A n.4043-184G>A c.1056C>T (p.Thr352=) c.1074C>T (p.Thr358=) c.831C>T (p.Thr277=) c.864C>T (p.Thr288=) c.882C>T (p.Thr294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428449_127428451del | CA2586969906 | PROC | c.889_891del (p.Asp297del) c.213_215del c.991_993del (p.Asp331del) c.1072_1074del (p.Asp358del) c.1054_1056del (p.Asp352del) c.952_954del (p.Asp318del) n.1332-186_1332-184del c.1132_1134del (p.Asp378del) c.1234_1236del (p.Asp412del) c.1174_1176del (p.Asp392del) n.3607-186_3607-184del n.4043-186_4043-184del c.1057_1059del (p.Asp353del) c.1075_1077del (p.Asp359del) c.832_834del (p.Asp278del) c.865_867del (p.Asp289del) c.883_885del (p.Asp295del) | |
2 | g.127428449G>A | CA1859482 | PROC | c.889G>A (p.Asp297Asn) c.213G>A c.991G>A (p.Asp331Asn) c.1072G>A (p.Asp358Asn) c.1054G>A (p.Asp352Asn) c.952G>A (p.Asp318Asn) n.1332-185C>T c.1132G>A (p.Asp378Asn) c.1234G>A (p.Asp412Asn) c.1174G>A (p.Asp392Asn) n.3607-185C>T n.4043-185C>T c.1057G>A (p.Asp353Asn) c.1075G>A (p.Asp359Asn) c.832G>A (p.Asp278Asn) c.865G>A (p.Asp289Asn) c.883G>A (p.Asp295Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428449G>C | CA1859481 | PROC | c.889G>C (p.Asp297His) c.213G>C c.991G>C (p.Asp331His) c.1072G>C (p.Asp358His) c.1054G>C (p.Asp352His) c.952G>C (p.Asp318His) n.1332-185C>G c.1132G>C (p.Asp378His) c.1234G>C (p.Asp412His) c.1174G>C (p.Asp392His) n.3607-185C>G n.4043-185C>G c.1057G>C (p.Asp353His) c.1075G>C (p.Asp359His) c.832G>C (p.Asp278His) c.865G>C (p.Asp289His) c.883G>C (p.Asp295His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428449G= | CA1286884480 | PROC | c.889G= (p.Asp297=) c.213G= c.991G= (p.Asp331=) c.1072G= (p.Asp358=) c.1054G= (p.Asp352=) c.952G= (p.Asp318=) n.1332-185C= c.1132G= (p.Asp378=) c.1234G= (p.Asp412=) c.1174G= (p.Asp392=) n.3607-185C= n.4043-185C= c.1057G= (p.Asp353=) c.1075G= (p.Asp359=) c.832G= (p.Asp278=) c.865G= (p.Asp289=) c.883G= (p.Asp295=) | |
2 | g.127428449G>T | CA348404637 | PROC | c.889G>T (p.Asp297Tyr) c.213G>T c.991G>T (p.Asp331Tyr) c.1072G>T (p.Asp358Tyr) c.1054G>T (p.Asp352Tyr) c.952G>T (p.Asp318Tyr) n.1332-185C>A c.1132G>T (p.Asp378Tyr) c.1234G>T (p.Asp412Tyr) c.1174G>T (p.Asp392Tyr) n.3607-185C>A n.4043-185C>A c.1057G>T (p.Asp353Tyr) c.1075G>T (p.Asp359Tyr) c.832G>T (p.Asp278Tyr) c.865G>T (p.Asp289Tyr) c.883G>T (p.Asp295Tyr) | gnomAD v4 |
2 | g.127428449_127428451delinsCAT | CA2586969907 | PROC | c.889_891delinsCAT (p.Asp297His) c.213_215delinsCAT c.991_993delinsCAT (p.Asp331His) c.1072_1074delinsCAT (p.Asp358His) c.1054_1056delinsCAT (p.Asp352His) c.952_954delinsCAT (p.Asp318His) n.1332-187_1332-185delinsATG c.1132_1134delinsCAT (p.Asp378His) c.1234_1236delinsCAT (p.Asp412His) c.1174_1176delinsCAT (p.Asp392His) n.3607-187_3607-185delinsATG n.4043-187_4043-185delinsATG c.1057_1059delinsCAT (p.Asp353His) c.1075_1077delinsCAT (p.Asp359His) c.832_834delinsCAT (p.Asp278His) c.865_867delinsCAT (p.Asp289His) c.883_885delinsCAT (p.Asp295His) | |
2 | g.127428450A>C | CA348404640 | PROC | c.890A>C (p.Asp297Ala) c.214A>C c.992A>C (p.Asp331Ala) c.1073A>C (p.Asp358Ala) c.1055A>C (p.Asp352Ala) c.953A>C (p.Asp318Ala) n.1332-186T>G c.1133A>C (p.Asp378Ala) c.1235A>C (p.Asp412Ala) c.1175A>C (p.Asp392Ala) n.3607-186T>G n.4043-186T>G c.1058A>C (p.Asp353Ala) c.1076A>C (p.Asp359Ala) c.833A>C (p.Asp278Ala) c.866A>C (p.Asp289Ala) c.884A>C (p.Asp295Ala) | |
2 | g.127428450A>G | CA348404643 | PROC | c.890A>G (p.Asp297Gly) c.214A>G c.992A>G (p.Asp331Gly) c.1073A>G (p.Asp358Gly) c.1055A>G (p.Asp352Gly) c.953A>G (p.Asp318Gly) n.1332-186T>C c.1133A>G (p.Asp378Gly) c.1235A>G (p.Asp412Gly) c.1175A>G (p.Asp392Gly) n.3607-186T>C n.4043-186T>C c.1058A>G (p.Asp353Gly) c.1076A>G (p.Asp359Gly) c.833A>G (p.Asp278Gly) c.866A>G (p.Asp289Gly) c.884A>G (p.Asp295Gly) | |
2 | g.127428450A>T | CA348404646 | PROC | c.890A>T (p.Asp297Val) c.214A>T c.992A>T (p.Asp331Val) c.1073A>T (p.Asp358Val) c.1055A>T (p.Asp352Val) c.953A>T (p.Asp318Val) n.1332-186T>A c.1133A>T (p.Asp378Val) c.1235A>T (p.Asp412Val) c.1175A>T (p.Asp392Val) n.3607-186T>A n.4043-186T>A c.1058A>T (p.Asp353Val) c.1076A>T (p.Asp359Val) c.833A>T (p.Asp278Val) c.866A>T (p.Asp289Val) c.884A>T (p.Asp295Val) | |
2 | g.127428451C>A | CA348404650 | PROC | c.891C>A (p.Asp297Glu) c.215C>A c.993C>A (p.Asp331Glu) c.1074C>A (p.Asp358Glu) c.1056C>A (p.Asp352Glu) c.954C>A (p.Asp318Glu) n.1332-187G>T c.1134C>A (p.Asp378Glu) c.1236C>A (p.Asp412Glu) c.1176C>A (p.Asp392Glu) n.3607-187G>T n.4043-187G>T c.1059C>A (p.Asp353Glu) c.1077C>A (p.Asp359Glu) c.834C>A (p.Asp278Glu) c.867C>A (p.Asp289Glu) c.885C>A (p.Asp295Glu) | |
2 | g.127428451C= | CA1286884481 | PROC | c.891C= (p.Asp297=) c.215C= c.993C= (p.Asp331=) c.1074C= (p.Asp358=) c.1056C= (p.Asp352=) c.954C= (p.Asp318=) n.1332-187G= c.1134C= (p.Asp378=) c.1236C= (p.Asp412=) c.1176C= (p.Asp392=) n.3607-187G= n.4043-187G= c.1059C= (p.Asp353=) c.1077C= (p.Asp359=) c.834C= (p.Asp278=) c.867C= (p.Asp289=) c.885C= (p.Asp295=) | |
2 | g.127428451C>G | CA348404653 | PROC | c.891C>G (p.Asp297Glu) c.215C>G c.993C>G (p.Asp331Glu) c.1074C>G (p.Asp358Glu) c.1056C>G (p.Asp352Glu) c.954C>G (p.Asp318Glu) n.1332-187G>C c.1134C>G (p.Asp378Glu) c.1236C>G (p.Asp412Glu) c.1176C>G (p.Asp392Glu) n.3607-187G>C n.4043-187G>C c.1059C>G (p.Asp353Glu) c.1077C>G (p.Asp359Glu) c.834C>G (p.Asp278Glu) c.867C>G (p.Asp289Glu) c.885C>G (p.Asp295Glu) | |
2 | g.127428451C>T | CA1859483 | PROC | c.891C>T (p.Asp297=) c.215C>T c.993C>T (p.Asp331=) c.1074C>T (p.Asp358=) c.1056C>T (p.Asp352=) c.954C>T (p.Asp318=) n.1332-187G>A c.1134C>T (p.Asp378=) c.1236C>T (p.Asp412=) c.1176C>T (p.Asp392=) n.3607-187G>A n.4043-187G>A c.1059C>T (p.Asp353=) c.1077C>T (p.Asp359=) c.834C>T (p.Asp278=) c.867C>T (p.Asp289=) c.885C>T (p.Asp295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428452A>C | CA348404657 | PROC | c.892A>C (p.Asn298His) c.216A>C c.994A>C (p.Asn332His) c.1075A>C (p.Asn359His) c.1057A>C (p.Asn353His) c.955A>C (p.Asn319His) n.1332-188T>G c.1135A>C (p.Asn379His) c.1237A>C (p.Asn413His) c.1177A>C (p.Asn393His) n.3607-188T>G n.4043-188T>G c.1060A>C (p.Asn354His) c.1078A>C (p.Asn360His) c.835A>C (p.Asn279His) c.868A>C (p.Asn290His) c.886A>C (p.Asn296His) | |
2 | g.127428452A>G | CA348404660 | PROC | c.892A>G (p.Asn298Asp) c.216A>G c.994A>G (p.Asn332Asp) c.1075A>G (p.Asn359Asp) c.1057A>G (p.Asn353Asp) c.955A>G (p.Asn319Asp) n.1332-188T>C c.1135A>G (p.Asn379Asp) c.1237A>G (p.Asn413Asp) c.1177A>G (p.Asn393Asp) n.3607-188T>C n.4043-188T>C c.1060A>G (p.Asn354Asp) c.1078A>G (p.Asn360Asp) c.835A>G (p.Asn279Asp) c.868A>G (p.Asn290Asp) c.886A>G (p.Asn296Asp) | gnomAD v4 |
2 | g.127428452A>T | CA348404669 | PROC | c.892A>T (p.Asn298Tyr) c.216A>T c.994A>T (p.Asn332Tyr) c.1075A>T (p.Asn359Tyr) c.1057A>T (p.Asn353Tyr) c.955A>T (p.Asn319Tyr) n.1332-188T>A c.1135A>T (p.Asn379Tyr) c.1237A>T (p.Asn413Tyr) c.1177A>T (p.Asn393Tyr) n.3607-188T>A n.4043-188T>A c.1060A>T (p.Asn354Tyr) c.1078A>T (p.Asn360Tyr) c.835A>T (p.Asn279Tyr) c.868A>T (p.Asn290Tyr) c.886A>T (p.Asn296Tyr) | |
2 | g.127428453del | CA2586969908 | PROC | c.893del (p.Asn298MetfsTer18) c.217del c.995del (p.Asn332MetfsTer18) c.1076del (p.Asn359MetfsTer18) c.1058del (p.Asn353MetfsTer18) c.956del (p.Asn319MetfsTer18) n.1332-188del c.1136del (p.Asn379MetfsTer18) c.1238del (p.Asn413MetfsTer18) c.1178del (p.Asn393MetfsTer18) n.3607-188del n.4043-188del c.1061del (p.Asn354MetfsTer18) c.1079del (p.Asn360MetfsTer18) c.836del (p.Asn279MetfsTer18) c.869del (p.Asn290MetfsTer18) c.887del (p.Asn296MetfsTer18) | |
2 | g.127428453A>C | CA348404677 | PROC | c.893A>C (p.Asn298Thr) c.217A>C c.995A>C (p.Asn332Thr) c.1076A>C (p.Asn359Thr) c.1058A>C (p.Asn353Thr) c.956A>C (p.Asn319Thr) n.1332-189T>G c.1136A>C (p.Asn379Thr) c.1238A>C (p.Asn413Thr) c.1178A>C (p.Asn393Thr) n.3607-189T>G n.4043-189T>G c.1061A>C (p.Asn354Thr) c.1079A>C (p.Asn360Thr) c.836A>C (p.Asn279Thr) c.869A>C (p.Asn290Thr) c.887A>C (p.Asn296Thr) | |
2 | g.127428453A>G | CA348404675 | PROC | c.893A>G (p.Asn298Ser) c.217A>G c.995A>G (p.Asn332Ser) c.1076A>G (p.Asn359Ser) c.1058A>G (p.Asn353Ser) c.956A>G (p.Asn319Ser) n.1332-189T>C c.1136A>G (p.Asn379Ser) c.1238A>G (p.Asn413Ser) c.1178A>G (p.Asn393Ser) n.3607-189T>C n.4043-189T>C c.1061A>G (p.Asn354Ser) c.1079A>G (p.Asn360Ser) c.836A>G (p.Asn279Ser) c.869A>G (p.Asn290Ser) c.887A>G (p.Asn296Ser) | |
2 | g.127428453A>T | CA348404674 | PROC | c.893A>T (p.Asn298Ile) c.217A>T c.995A>T (p.Asn332Ile) c.1076A>T (p.Asn359Ile) c.1058A>T (p.Asn353Ile) c.956A>T (p.Asn319Ile) n.1332-189T>A c.1136A>T (p.Asn379Ile) c.1238A>T (p.Asn413Ile) c.1178A>T (p.Asn393Ile) n.3607-189T>A n.4043-189T>A c.1061A>T (p.Asn354Ile) c.1079A>T (p.Asn360Ile) c.836A>T (p.Asn279Ile) c.869A>T (p.Asn290Ile) c.887A>T (p.Asn296Ile) | |
2 | g.127428454T>A | CA348404681 | PROC | c.894T>A (p.Asn298Lys) c.218T>A c.996T>A (p.Asn332Lys) c.1077T>A (p.Asn359Lys) c.1059T>A (p.Asn353Lys) c.957T>A (p.Asn319Lys) n.1332-190A>T c.1137T>A (p.Asn379Lys) c.1239T>A (p.Asn413Lys) c.1179T>A (p.Asn393Lys) n.3607-190A>T n.4043-190A>T c.1062T>A (p.Asn354Lys) c.1080T>A (p.Asn360Lys) c.837T>A (p.Asn279Lys) c.870T>A (p.Asn290Lys) c.888T>A (p.Asn296Lys) | |
2 | g.127428454T>C | CA428618905 | PROC | c.894T>C (p.Asn298=) c.218T>C c.996T>C (p.Asn332=) c.1077T>C (p.Asn359=) c.1059T>C (p.Asn353=) c.957T>C (p.Asn319=) n.1332-190A>G c.1137T>C (p.Asn379=) c.1239T>C (p.Asn413=) c.1179T>C (p.Asn393=) n.3607-190A>G n.4043-190A>G c.1062T>C (p.Asn354=) c.1080T>C (p.Asn360=) c.837T>C (p.Asn279=) c.870T>C (p.Asn290=) c.888T>C (p.Asn296=) | |
2 | g.127428454T>G | CA348404683 | PROC | c.894T>G (p.Asn298Lys) c.218T>G c.996T>G (p.Asn332Lys) c.1077T>G (p.Asn359Lys) c.1059T>G (p.Asn353Lys) c.957T>G (p.Asn319Lys) n.1332-190A>C c.1137T>G (p.Asn379Lys) c.1239T>G (p.Asn413Lys) c.1179T>G (p.Asn393Lys) n.3607-190A>C n.4043-190A>C c.1062T>G (p.Asn354Lys) c.1080T>G (p.Asn360Lys) c.837T>G (p.Asn279Lys) c.870T>G (p.Asn290Lys) c.888T>G (p.Asn296Lys) | |
2 | g.127428455G>A | CA348404686 | PROC | c.895G>A (p.Asp299Asn) c.219G>A c.997G>A (p.Asp333Asn) c.1078G>A (p.Asp360Asn) c.1060G>A (p.Asp354Asn) c.958G>A (p.Asp320Asn) n.1332-191C>T c.1138G>A (p.Asp380Asn) c.1240G>A (p.Asp414Asn) c.1180G>A (p.Asp394Asn) n.3607-191C>T n.4043-191C>T c.1063G>A (p.Asp355Asn) c.1081G>A (p.Asp361Asn) c.838G>A (p.Asp280Asn) c.871G>A (p.Asp291Asn) c.889G>A (p.Asp297Asn) | COSMIC |
2 | g.127428455G>C | CA348404689 | PROC | c.895G>C (p.Asp299His) c.219G>C c.997G>C (p.Asp333His) c.1078G>C (p.Asp360His) c.1060G>C (p.Asp354His) c.958G>C (p.Asp320His) n.1332-191C>G c.1138G>C (p.Asp380His) c.1240G>C (p.Asp414His) c.1180G>C (p.Asp394His) n.3607-191C>G n.4043-191C>G c.1063G>C (p.Asp355His) c.1081G>C (p.Asp361His) c.838G>C (p.Asp280His) c.871G>C (p.Asp291His) c.889G>C (p.Asp297His) | |
2 | g.127428455G>T | CA348404692 | PROC | c.895G>T (p.Asp299Tyr) c.219G>T c.997G>T (p.Asp333Tyr) c.1078G>T (p.Asp360Tyr) c.1060G>T (p.Asp354Tyr) c.958G>T (p.Asp320Tyr) n.1332-191C>A c.1138G>T (p.Asp380Tyr) c.1240G>T (p.Asp414Tyr) c.1180G>T (p.Asp394Tyr) n.3607-191C>A n.4043-191C>A c.1063G>T (p.Asp355Tyr) c.1081G>T (p.Asp361Tyr) c.838G>T (p.Asp280Tyr) c.871G>T (p.Asp291Tyr) c.889G>T (p.Asp297Tyr) | |
2 | g.127428456A>C | CA348404695 | PROC | c.896A>C (p.Asp299Ala) c.220A>C c.998A>C (p.Asp333Ala) c.1079A>C (p.Asp360Ala) c.1061A>C (p.Asp354Ala) c.959A>C (p.Asp320Ala) n.1332-192T>G c.1139A>C (p.Asp380Ala) c.1241A>C (p.Asp414Ala) c.1181A>C (p.Asp394Ala) n.3607-192T>G n.4043-192T>G c.1064A>C (p.Asp355Ala) c.1082A>C (p.Asp361Ala) c.839A>C (p.Asp280Ala) c.872A>C (p.Asp291Ala) c.890A>C (p.Asp297Ala) | |
2 | g.127428456A>G | CA348404698 | PROC | c.896A>G (p.Asp299Gly) c.220A>G c.998A>G (p.Asp333Gly) c.1079A>G (p.Asp360Gly) c.1061A>G (p.Asp354Gly) c.959A>G (p.Asp320Gly) n.1332-192T>C c.1139A>G (p.Asp380Gly) c.1241A>G (p.Asp414Gly) c.1181A>G (p.Asp394Gly) n.3607-192T>C n.4043-192T>C c.1064A>G (p.Asp355Gly) c.1082A>G (p.Asp361Gly) c.839A>G (p.Asp280Gly) c.872A>G (p.Asp291Gly) c.890A>G (p.Asp297Gly) | |
2 | g.127428456A>T | CA348404700 | PROC | c.896A>T (p.Asp299Val) c.220A>T c.998A>T (p.Asp333Val) c.1079A>T (p.Asp360Val) c.1061A>T (p.Asp354Val) c.959A>T (p.Asp320Val) n.1332-192T>A c.1139A>T (p.Asp380Val) c.1241A>T (p.Asp414Val) c.1181A>T (p.Asp394Val) n.3607-192T>A n.4043-192T>A c.1064A>T (p.Asp355Val) c.1082A>T (p.Asp361Val) c.839A>T (p.Asp280Val) c.872A>T (p.Asp291Val) c.890A>T (p.Asp297Val) | gnomAD v4 |
2 | g.127428457_127428458del | CA2586969909 | PROC | c.897_898del (p.Ile300ArgfsTer?) c.221_222del c.999_1000del (p.Ile334ArgfsTer?) c.1080_1081del (p.Ile361ArgfsTer?) c.1062_1063del (p.Ile355ArgfsTer?) c.960_961del (p.Ile321ArgfsTer?) n.1332-193_1332-192del c.1140_1141del (p.Ile381ArgfsTer?) c.1242_1243del (p.Ile415ArgfsTer?) c.1182_1183del (p.Ile395ArgfsTer?) n.3607-193_3607-192del n.4043-193_4043-192del c.1065_1066del (p.Ile356ArgfsTer?) c.1083_1084del (p.Ile362ArgfsTer?) c.840_841del (p.Ile281ArgfsTer?) c.873_874del (p.Ile292ArgfsTer?) c.891_892del (p.Ile298ArgfsTer?) | |
2 | g.127428457C>A | CA348404703 | PROC | c.897C>A (p.Asp299Glu) c.221C>A c.999C>A (p.Asp333Glu) c.1080C>A (p.Asp360Glu) c.1062C>A (p.Asp354Glu) c.960C>A (p.Asp320Glu) n.1332-193G>T c.1140C>A (p.Asp380Glu) c.1242C>A (p.Asp414Glu) c.1182C>A (p.Asp394Glu) n.3607-193G>T n.4043-193G>T c.1065C>A (p.Asp355Glu) c.1083C>A (p.Asp361Glu) c.840C>A (p.Asp280Glu) c.873C>A (p.Asp291Glu) c.891C>A (p.Asp297Glu) | |
2 | g.127428457C>G | CA348404706 | PROC | c.897C>G (p.Asp299Glu) c.221C>G c.999C>G (p.Asp333Glu) c.1080C>G (p.Asp360Glu) c.1062C>G (p.Asp354Glu) c.960C>G (p.Asp320Glu) n.1332-193G>C c.1140C>G (p.Asp380Glu) c.1242C>G (p.Asp414Glu) c.1182C>G (p.Asp394Glu) n.3607-193G>C n.4043-193G>C c.1065C>G (p.Asp355Glu) c.1083C>G (p.Asp361Glu) c.840C>G (p.Asp280Glu) c.873C>G (p.Asp291Glu) c.891C>G (p.Asp297Glu) | |
2 | g.127428457C>T | CA428618906 | PROC | c.897C>T (p.Asp299=) c.221C>T c.999C>T (p.Asp333=) c.1080C>T (p.Asp360=) c.1062C>T (p.Asp354=) c.960C>T (p.Asp320=) n.1332-193G>A c.1140C>T (p.Asp380=) c.1242C>T (p.Asp414=) c.1182C>T (p.Asp394=) n.3607-193G>A n.4043-193G>A c.1065C>T (p.Asp355=) c.1083C>T (p.Asp361=) c.840C>T (p.Asp280=) c.873C>T (p.Asp291=) c.891C>T (p.Asp297=) | gnomAD v4 |
2 | g.127428458A>C | CA348404708 | PROC | c.898A>C (p.Ile300Leu) c.222A>C c.1000A>C (p.Ile334Leu) c.1081A>C (p.Ile361Leu) c.1063A>C (p.Ile355Leu) c.961A>C (p.Ile321Leu) n.1332-194T>G c.1141A>C (p.Ile381Leu) c.1243A>C (p.Ile415Leu) c.1183A>C (p.Ile395Leu) n.3607-194T>G n.4043-194T>G c.1066A>C (p.Ile356Leu) c.1084A>C (p.Ile362Leu) c.841A>C (p.Ile281Leu) c.874A>C (p.Ile292Leu) c.892A>C (p.Ile298Leu) | |
2 | g.127428458A>G | CA348404709 | PROC | c.898A>G (p.Ile300Val) c.222A>G c.1000A>G (p.Ile334Val) c.1081A>G (p.Ile361Val) c.1063A>G (p.Ile355Val) c.961A>G (p.Ile321Val) n.1332-194T>C c.1141A>G (p.Ile381Val) c.1243A>G (p.Ile415Val) c.1183A>G (p.Ile395Val) n.3607-194T>C n.4043-194T>C c.1066A>G (p.Ile356Val) c.1084A>G (p.Ile362Val) c.841A>G (p.Ile281Val) c.874A>G (p.Ile292Val) c.892A>G (p.Ile298Val) | |
2 | g.127428458A>T | CA348404712 | PROC | c.898A>T (p.Ile300Phe) c.222A>T c.1000A>T (p.Ile334Phe) c.1081A>T (p.Ile361Phe) c.1063A>T (p.Ile355Phe) c.961A>T (p.Ile321Phe) n.1332-194T>A c.1141A>T (p.Ile381Phe) c.1243A>T (p.Ile415Phe) c.1183A>T (p.Ile395Phe) n.3607-194T>A n.4043-194T>A c.1066A>T (p.Ile356Phe) c.1084A>T (p.Ile362Phe) c.841A>T (p.Ile281Phe) c.874A>T (p.Ile292Phe) c.892A>T (p.Ile298Phe) | |
2 | g.127428459T>A | CA348404717 | PROC | c.899T>A (p.Ile300Asn) c.223T>A c.1001T>A (p.Ile334Asn) c.1082T>A (p.Ile361Asn) c.1064T>A (p.Ile355Asn) c.962T>A (p.Ile321Asn) n.1332-195A>T c.1142T>A (p.Ile381Asn) c.1244T>A (p.Ile415Asn) c.1184T>A (p.Ile395Asn) n.3607-195A>T n.4043-195A>T c.1067T>A (p.Ile356Asn) c.1085T>A (p.Ile362Asn) c.842T>A (p.Ile281Asn) c.875T>A (p.Ile292Asn) c.893T>A (p.Ile298Asn) | |
2 | g.127428459T>C | CA348404718 | PROC | c.899T>C (p.Ile300Thr) c.223T>C c.1001T>C (p.Ile334Thr) c.1082T>C (p.Ile361Thr) c.1064T>C (p.Ile355Thr) c.962T>C (p.Ile321Thr) n.1332-195A>G c.1142T>C (p.Ile381Thr) c.1244T>C (p.Ile415Thr) c.1184T>C (p.Ile395Thr) n.3607-195A>G n.4043-195A>G c.1067T>C (p.Ile356Thr) c.1085T>C (p.Ile362Thr) c.842T>C (p.Ile281Thr) c.875T>C (p.Ile292Thr) c.893T>C (p.Ile298Thr) | |
2 | g.127428459T>G | CA348404721 | PROC | c.899T>G (p.Ile300Ser) c.223T>G c.1001T>G (p.Ile334Ser) c.1082T>G (p.Ile361Ser) c.1064T>G (p.Ile355Ser) c.962T>G (p.Ile321Ser) n.1332-195A>C c.1142T>G (p.Ile381Ser) c.1244T>G (p.Ile415Ser) c.1184T>G (p.Ile395Ser) n.3607-195A>C n.4043-195A>C c.1067T>G (p.Ile356Ser) c.1085T>G (p.Ile362Ser) c.842T>G (p.Ile281Ser) c.875T>G (p.Ile292Ser) c.893T>G (p.Ile298Ser) | |
2 | g.127428460C>A | CA428618907 | PROC | c.900C>A (p.Ile300=) c.224C>A c.1002C>A (p.Ile334=) c.1083C>A (p.Ile361=) c.1065C>A (p.Ile355=) c.963C>A (p.Ile321=) n.1332-196G>T c.1143C>A (p.Ile381=) c.1245C>A (p.Ile415=) c.1185C>A (p.Ile395=) n.3607-196G>T n.4043-196G>T c.1068C>A (p.Ile356=) c.1086C>A (p.Ile362=) c.843C>A (p.Ile281=) c.876C>A (p.Ile292=) c.894C>A (p.Ile298=) | |
2 | g.127428460C= | CA1286884482 | PROC | c.900C= (p.Ile300=) c.224C= c.1002C= (p.Ile334=) c.1083C= (p.Ile361=) c.1065C= (p.Ile355=) c.963C= (p.Ile321=) n.1332-196G= c.1143C= (p.Ile381=) c.1245C= (p.Ile415=) c.1185C= (p.Ile395=) n.3607-196G= n.4043-196G= c.1068C= (p.Ile356=) c.1086C= (p.Ile362=) c.843C= (p.Ile281=) c.876C= (p.Ile292=) c.894C= (p.Ile298=) | |
2 | g.127428460C>G | CA348404725 | PROC | c.900C>G (p.Ile300Met) c.224C>G c.1002C>G (p.Ile334Met) c.1083C>G (p.Ile361Met) c.1065C>G (p.Ile355Met) c.963C>G (p.Ile321Met) n.1332-196G>C c.1143C>G (p.Ile381Met) c.1245C>G (p.Ile415Met) c.1185C>G (p.Ile395Met) n.3607-196G>C n.4043-196G>C c.1068C>G (p.Ile356Met) c.1086C>G (p.Ile362Met) c.843C>G (p.Ile281Met) c.876C>G (p.Ile292Met) c.894C>G (p.Ile298Met) | gnomAD v4 COSMIC |
2 | g.127428460C>T | CA1859484 | PROC | c.900C>T (p.Ile300=) c.224C>T c.1002C>T (p.Ile334=) c.1083C>T (p.Ile361=) c.1065C>T (p.Ile355=) c.963C>T (p.Ile321=) n.1332-196G>A c.1143C>T (p.Ile381=) c.1245C>T (p.Ile415=) c.1185C>T (p.Ile395=) n.3607-196G>A n.4043-196G>A c.1068C>T (p.Ile356=) c.1086C>T (p.Ile362=) c.843C>T (p.Ile281=) c.876C>T (p.Ile292=) c.894C>T (p.Ile298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428461G>A | CA348404731 | PROC | c.901G>A (p.Ala301Thr) c.225G>A c.1003G>A (p.Ala335Thr) c.1084G>A (p.Ala362Thr) c.1066G>A (p.Ala356Thr) c.964G>A (p.Ala322Thr) n.1332-197C>T c.1144G>A (p.Ala382Thr) c.1246G>A (p.Ala416Thr) c.1186G>A (p.Ala396Thr) n.3607-197C>T n.4043-197C>T c.1069G>A (p.Ala357Thr) c.1087G>A (p.Ala363Thr) c.844G>A (p.Ala282Thr) c.877G>A (p.Ala293Thr) c.895G>A (p.Ala299Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.127428461G>C | CA348404733 | PROC | c.901G>C (p.Ala301Pro) c.225G>C c.1003G>C (p.Ala335Pro) c.1084G>C (p.Ala362Pro) c.1066G>C (p.Ala356Pro) c.964G>C (p.Ala322Pro) n.1332-197C>G c.1144G>C (p.Ala382Pro) c.1246G>C (p.Ala416Pro) c.1186G>C (p.Ala396Pro) n.3607-197C>G n.4043-197C>G c.1069G>C (p.Ala357Pro) c.1087G>C (p.Ala363Pro) c.844G>C (p.Ala282Pro) c.877G>C (p.Ala293Pro) c.895G>C (p.Ala299Pro) | |
2 | g.127428461G= | CA1286884483 | PROC | c.901G= (p.Ala301=) c.225G= c.1003G= (p.Ala335=) c.1084G= (p.Ala362=) c.1066G= (p.Ala356=) c.964G= (p.Ala322=) n.1332-197C= c.1144G= (p.Ala382=) c.1246G= (p.Ala416=) c.1186G= (p.Ala396=) n.3607-197C= n.4043-197C= c.1069G= (p.Ala357=) c.1087G= (p.Ala363=) c.844G= (p.Ala282=) c.877G= (p.Ala293=) c.895G= (p.Ala299=) | |
2 | g.127428461G>T | CA348404737 | PROC | c.901G>T (p.Ala301Ser) c.225G>T c.1003G>T (p.Ala335Ser) c.1084G>T (p.Ala362Ser) c.1066G>T (p.Ala356Ser) c.964G>T (p.Ala322Ser) n.1332-197C>A c.1144G>T (p.Ala382Ser) c.1246G>T (p.Ala416Ser) c.1186G>T (p.Ala396Ser) n.3607-197C>A n.4043-197C>A c.1069G>T (p.Ala357Ser) c.1087G>T (p.Ala363Ser) c.844G>T (p.Ala282Ser) c.877G>T (p.Ala293Ser) c.895G>T (p.Ala299Ser) | dbSNP gnomAD v4 |
2 | g.127428462C>A | CA348404740 | PROC | c.902C>A (p.Ala301Glu) c.226C>A c.1004C>A (p.Ala335Glu) c.1085C>A (p.Ala362Glu) c.1067C>A (p.Ala356Glu) c.965C>A (p.Ala322Glu) n.1332-198G>T c.1145C>A (p.Ala382Glu) c.1247C>A (p.Ala416Glu) c.1187C>A (p.Ala396Glu) n.3607-198G>T n.4043-198G>T c.1070C>A (p.Ala357Glu) c.1088C>A (p.Ala363Glu) c.845C>A (p.Ala282Glu) c.878C>A (p.Ala293Glu) c.896C>A (p.Ala299Glu) | |
2 | g.127428462C= | CA1286884484 | PROC | c.902C= (p.Ala301=) c.226C= c.1004C= (p.Ala335=) c.1085C= (p.Ala362=) c.1067C= (p.Ala356=) c.965C= (p.Ala322=) n.1332-198G= c.1145C= (p.Ala382=) c.1247C= (p.Ala416=) c.1187C= (p.Ala396=) n.3607-198G= n.4043-198G= c.1070C= (p.Ala357=) c.1088C= (p.Ala363=) c.845C= (p.Ala282=) c.878C= (p.Ala293=) c.896C= (p.Ala299=) | |
2 | g.127428462C>G | CA348404742 | PROC | c.902C>G (p.Ala301Gly) c.226C>G c.1004C>G (p.Ala335Gly) c.1085C>G (p.Ala362Gly) c.1067C>G (p.Ala356Gly) c.965C>G (p.Ala322Gly) n.1332-198G>C c.1145C>G (p.Ala382Gly) c.1247C>G (p.Ala416Gly) c.1187C>G (p.Ala396Gly) n.3607-198G>C n.4043-198G>C c.1070C>G (p.Ala357Gly) c.1088C>G (p.Ala363Gly) c.845C>G (p.Ala282Gly) c.878C>G (p.Ala293Gly) c.896C>G (p.Ala299Gly) | |
2 | g.127428462C>T | CA114391 | PROC | c.902C>T (p.Ala301Val) c.226C>T c.1004C>T (p.Ala335Val) c.1085C>T (p.Ala362Val) c.1067C>T (p.Ala356Val) c.965C>T (p.Ala322Val) n.1332-198G>A c.1145C>T (p.Ala382Val) c.1247C>T (p.Ala416Val) c.1187C>T (p.Ala396Val) n.3607-198G>A n.4043-198G>A c.1070C>T (p.Ala357Val) c.1088C>T (p.Ala363Val) c.845C>T (p.Ala282Val) c.878C>T (p.Ala293Val) c.896C>T (p.Ala299Val) | ClinVar dbSNP gnomAD v4 |
2 | g.127428463A= | CA1286884485 | PROC | c.903A= (p.Ala301=) c.227A= c.1005A= (p.Ala335=) c.1086A= (p.Ala362=) c.1068A= (p.Ala356=) c.966A= (p.Ala322=) n.1332-199T= c.1146A= (p.Ala382=) c.1248A= (p.Ala416=) c.1188A= (p.Ala396=) n.3607-199T= n.4043-199T= c.1071A= (p.Ala357=) c.1089A= (p.Ala363=) c.846A= (p.Ala282=) c.879A= (p.Ala293=) c.897A= (p.Ala299=) | |
2 | g.127428463A>C | CA1859485 | PROC | c.903A>C (p.Ala301=) c.227A>C c.1005A>C (p.Ala335=) c.1086A>C (p.Ala362=) c.1068A>C (p.Ala356=) c.966A>C (p.Ala322=) n.1332-199T>G c.1146A>C (p.Ala382=) c.1248A>C (p.Ala416=) c.1188A>C (p.Ala396=) n.3607-199T>G n.4043-199T>G c.1071A>C (p.Ala357=) c.1089A>C (p.Ala363=) c.846A>C (p.Ala282=) c.879A>C (p.Ala293=) c.897A>C (p.Ala299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428463A>G | CA428618908 | PROC | c.903A>G (p.Ala301=) c.227A>G c.1005A>G (p.Ala335=) c.1086A>G (p.Ala362=) c.1068A>G (p.Ala356=) c.966A>G (p.Ala322=) n.1332-199T>C c.1146A>G (p.Ala382=) c.1248A>G (p.Ala416=) c.1188A>G (p.Ala396=) n.3607-199T>C n.4043-199T>C c.1071A>G (p.Ala357=) c.1089A>G (p.Ala363=) c.846A>G (p.Ala282=) c.879A>G (p.Ala293=) c.897A>G (p.Ala299=) | |
2 | g.127428463A>T | CA428618909 | PROC | c.903A>T (p.Ala301=) c.227A>T c.1005A>T (p.Ala335=) c.1086A>T (p.Ala362=) c.1068A>T (p.Ala356=) c.966A>T (p.Ala322=) n.1332-199T>A c.1146A>T (p.Ala382=) c.1248A>T (p.Ala416=) c.1188A>T (p.Ala396=) n.3607-199T>A n.4043-199T>A c.1071A>T (p.Ala357=) c.1089A>T (p.Ala363=) c.846A>T (p.Ala282=) c.879A>T (p.Ala293=) c.897A>T (p.Ala299=) | |
2 | g.127428464C>A | CA348404747 | PROC | c.904C>A (p.Leu302Met) c.228C>A c.1006C>A (p.Leu336Met) c.1087C>A (p.Leu363Met) c.1069C>A (p.Leu357Met) c.967C>A (p.Leu323Met) n.1332-200G>T c.1147C>A (p.Leu383Met) c.1249C>A (p.Leu417Met) c.1189C>A (p.Leu397Met) n.3607-200G>T n.4043-200G>T c.1072C>A (p.Leu358Met) c.1090C>A (p.Leu364Met) c.847C>A (p.Leu283Met) c.880C>A (p.Leu294Met) c.898C>A (p.Leu300Met) | |
2 | g.127428464C>G | CA348404751 | PROC | c.904C>G (p.Leu302Val) c.228C>G c.1006C>G (p.Leu336Val) c.1087C>G (p.Leu363Val) c.1069C>G (p.Leu357Val) c.967C>G (p.Leu323Val) n.1332-200G>C c.1147C>G (p.Leu383Val) c.1249C>G (p.Leu417Val) c.1189C>G (p.Leu397Val) n.3607-200G>C n.4043-200G>C c.1072C>G (p.Leu358Val) c.1090C>G (p.Leu364Val) c.847C>G (p.Leu283Val) c.880C>G (p.Leu294Val) c.898C>G (p.Leu300Val) | |
2 | g.127428464C>T | CA428618910 | PROC | c.904C>T (p.Leu302=) c.228C>T c.1006C>T (p.Leu336=) c.1087C>T (p.Leu363=) c.1069C>T (p.Leu357=) c.967C>T (p.Leu323=) n.1332-200G>A c.1147C>T (p.Leu383=) c.1249C>T (p.Leu417=) c.1189C>T (p.Leu397=) n.3607-200G>A n.4043-200G>A c.1072C>T (p.Leu358=) c.1090C>T (p.Leu364=) c.847C>T (p.Leu283=) c.880C>T (p.Leu294=) c.898C>T (p.Leu300=) | |
2 | g.127428465T>A | CA348404753 | PROC | c.905T>A (p.Leu302Gln) c.229T>A c.1007T>A (p.Leu336Gln) c.1088T>A (p.Leu363Gln) c.1070T>A (p.Leu357Gln) c.968T>A (p.Leu323Gln) n.1332-201A>T c.1148T>A (p.Leu383Gln) c.1250T>A (p.Leu417Gln) c.1190T>A (p.Leu397Gln) n.3607-201A>T n.4043-201A>T c.1073T>A (p.Leu358Gln) c.1091T>A (p.Leu364Gln) c.848T>A (p.Leu283Gln) c.881T>A (p.Leu294Gln) c.899T>A (p.Leu300Gln) | |
2 | g.127428465T>C | CA348404757 | PROC | c.905T>C (p.Leu302Pro) c.229T>C c.1007T>C (p.Leu336Pro) c.1088T>C (p.Leu363Pro) c.1070T>C (p.Leu357Pro) c.968T>C (p.Leu323Pro) n.1332-201A>G c.1148T>C (p.Leu383Pro) c.1250T>C (p.Leu417Pro) c.1190T>C (p.Leu397Pro) n.3607-201A>G n.4043-201A>G c.1073T>C (p.Leu358Pro) c.1091T>C (p.Leu364Pro) c.848T>C (p.Leu283Pro) c.881T>C (p.Leu294Pro) c.899T>C (p.Leu300Pro) | |
2 | g.127428465T>G | CA348404759 | PROC | c.905T>G (p.Leu302Arg) c.229T>G c.1007T>G (p.Leu336Arg) c.1088T>G (p.Leu363Arg) c.1070T>G (p.Leu357Arg) c.968T>G (p.Leu323Arg) n.1332-201A>C c.1148T>G (p.Leu383Arg) c.1250T>G (p.Leu417Arg) c.1190T>G (p.Leu397Arg) n.3607-201A>C n.4043-201A>C c.1073T>G (p.Leu358Arg) c.1091T>G (p.Leu364Arg) c.848T>G (p.Leu283Arg) c.881T>G (p.Leu294Arg) c.899T>G (p.Leu300Arg) | |
2 | g.127428466G>A | CA428618911 | PROC | c.906G>A (p.Leu302=) c.230G>A c.1008G>A (p.Leu336=) c.1089G>A (p.Leu363=) c.1071G>A (p.Leu357=) c.969G>A (p.Leu323=) n.1332-202C>T c.1149G>A (p.Leu383=) c.1251G>A (p.Leu417=) c.1191G>A (p.Leu397=) n.3607-202C>T n.4043-202C>T c.1074G>A (p.Leu358=) c.1092G>A (p.Leu364=) c.849G>A (p.Leu283=) c.882G>A (p.Leu294=) c.900G>A (p.Leu300=) | |
2 | g.127428466G>C | CA428618912 | PROC | c.906G>C (p.Leu302=) c.230G>C c.1008G>C (p.Leu336=) c.1089G>C (p.Leu363=) c.1071G>C (p.Leu357=) c.969G>C (p.Leu323=) n.1332-202C>G c.1149G>C (p.Leu383=) c.1251G>C (p.Leu417=) c.1191G>C (p.Leu397=) n.3607-202C>G n.4043-202C>G c.1074G>C (p.Leu358=) c.1092G>C (p.Leu364=) c.849G>C (p.Leu283=) c.882G>C (p.Leu294=) c.900G>C (p.Leu300=) | |
2 | g.127428466G>T | CA428618913 | PROC | c.906G>T (p.Leu302=) c.230G>T c.1008G>T (p.Leu336=) c.1089G>T (p.Leu363=) c.1071G>T (p.Leu357=) c.969G>T (p.Leu323=) n.1332-202C>A c.1149G>T (p.Leu383=) c.1251G>T (p.Leu417=) c.1191G>T (p.Leu397=) n.3607-202C>A n.4043-202C>A c.1074G>T (p.Leu358=) c.1092G>T (p.Leu364=) c.849G>T (p.Leu283=) c.882G>T (p.Leu294=) c.900G>T (p.Leu300=) | |
2 | g.127428467C>A | CA348404763 | PROC | c.907C>A (p.Leu303Met) c.231C>A c.1009C>A (p.Leu337Met) c.1090C>A (p.Leu364Met) c.1072C>A (p.Leu358Met) c.970C>A (p.Leu324Met) n.1332-203G>T c.1150C>A (p.Leu384Met) c.1252C>A (p.Leu418Met) c.1192C>A (p.Leu398Met) n.3607-203G>T n.4043-203G>T c.1075C>A (p.Leu359Met) c.1093C>A (p.Leu365Met) c.850C>A (p.Leu284Met) c.883C>A (p.Leu295Met) c.901C>A (p.Leu301Met) | |
2 | g.127428467C>G | CA348404766 | PROC | c.907C>G (p.Leu303Val) c.231C>G c.1009C>G (p.Leu337Val) c.1090C>G (p.Leu364Val) c.1072C>G (p.Leu358Val) c.970C>G (p.Leu324Val) n.1332-203G>C c.1150C>G (p.Leu384Val) c.1252C>G (p.Leu418Val) c.1192C>G (p.Leu398Val) n.3607-203G>C n.4043-203G>C c.1075C>G (p.Leu359Val) c.1093C>G (p.Leu365Val) c.850C>G (p.Leu284Val) c.883C>G (p.Leu295Val) c.901C>G (p.Leu301Val) | |
2 | g.127428467C>T | CA428618914 | PROC | c.907C>T (p.Leu303=) c.231C>T c.1009C>T (p.Leu337=) c.1090C>T (p.Leu364=) c.1072C>T (p.Leu358=) c.970C>T (p.Leu324=) n.1332-203G>A c.1150C>T (p.Leu384=) c.1252C>T (p.Leu418=) c.1192C>T (p.Leu398=) n.3607-203G>A n.4043-203G>A c.1075C>T (p.Leu359=) c.1093C>T (p.Leu365=) c.850C>T (p.Leu284=) c.883C>T (p.Leu295=) c.901C>T (p.Leu301=) | |
2 | g.127428467_127428468del | CA2580063829 | PROC | c.907_908del (p.Leu303AlafsTer?) c.231_232del c.1009_1010del (p.Leu337AlafsTer?) c.1090_1091del (p.Leu364AlafsTer?) c.1072_1073del (p.Leu358AlafsTer?) c.970_971del (p.Leu324AlafsTer?) n.1332-204_1332-203del c.1150_1151del (p.Leu384AlafsTer?) c.1252_1253del (p.Leu418AlafsTer?) c.1192_1193del (p.Leu398AlafsTer?) n.3607-204_3607-203del n.4043-204_4043-203del c.1075_1076del (p.Leu359AlafsTer?) c.1093_1094del (p.Leu365AlafsTer?) c.850_851del (p.Leu284AlafsTer?) c.883_884del (p.Leu295AlafsTer?) c.901_902del (p.Leu301AlafsTer?) | ClinVar gnomAD v4 |
2 | g.127428468T>A | CA348404768 | PROC | c.908T>A (p.Leu303Gln) c.232T>A c.1010T>A (p.Leu337Gln) c.1091T>A (p.Leu364Gln) c.1073T>A (p.Leu358Gln) c.971T>A (p.Leu324Gln) n.1332-204A>T c.1151T>A (p.Leu384Gln) c.1253T>A (p.Leu418Gln) c.1193T>A (p.Leu398Gln) n.3607-204A>T n.4043-204A>T c.1076T>A (p.Leu359Gln) c.1094T>A (p.Leu365Gln) c.851T>A (p.Leu284Gln) c.884T>A (p.Leu295Gln) c.902T>A (p.Leu301Gln) | |
2 | g.127428468T>C | CA348404771 | PROC | c.908T>C (p.Leu303Pro) c.232T>C c.1010T>C (p.Leu337Pro) c.1091T>C (p.Leu364Pro) c.1073T>C (p.Leu358Pro) c.971T>C (p.Leu324Pro) n.1332-204A>G c.1151T>C (p.Leu384Pro) c.1253T>C (p.Leu418Pro) c.1193T>C (p.Leu398Pro) n.3607-204A>G n.4043-204A>G c.1076T>C (p.Leu359Pro) c.1094T>C (p.Leu365Pro) c.851T>C (p.Leu284Pro) c.884T>C (p.Leu295Pro) c.902T>C (p.Leu301Pro) | gnomAD v4 |
2 | g.127428468T>G | CA348404774 | PROC | c.908T>G (p.Leu303Arg) c.232T>G c.1010T>G (p.Leu337Arg) c.1091T>G (p.Leu364Arg) c.1073T>G (p.Leu358Arg) c.971T>G (p.Leu324Arg) n.1332-204A>C c.1151T>G (p.Leu384Arg) c.1253T>G (p.Leu418Arg) c.1193T>G (p.Leu398Arg) n.3607-204A>C n.4043-204A>C c.1076T>G (p.Leu359Arg) c.1094T>G (p.Leu365Arg) c.851T>G (p.Leu284Arg) c.884T>G (p.Leu295Arg) c.902T>G (p.Leu301Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.127428468T= | CA1286884486 | PROC | c.908T= (p.Leu303=) c.232T= c.1010T= (p.Leu337=) c.1091T= (p.Leu364=) c.1073T= (p.Leu358=) c.971T= (p.Leu324=) n.1332-204A= c.1151T= (p.Leu384=) c.1253T= (p.Leu418=) c.1193T= (p.Leu398=) n.3607-204A= n.4043-204A= c.1076T= (p.Leu359=) c.1094T= (p.Leu365=) c.851T= (p.Leu284=) c.884T= (p.Leu295=) c.902T= (p.Leu301=) | |
2 | g.127428469G>A | CA428618915 | PROC | c.909G>A (p.Leu303=) c.233G>A c.1011G>A (p.Leu337=) c.1092G>A (p.Leu364=) c.1074G>A (p.Leu358=) c.972G>A (p.Leu324=) n.1332-205C>T c.1152G>A (p.Leu384=) c.1254G>A (p.Leu418=) c.1194G>A (p.Leu398=) n.3607-205C>T n.4043-205C>T c.1077G>A (p.Leu359=) c.1095G>A (p.Leu365=) c.852G>A (p.Leu284=) c.885G>A (p.Leu295=) c.903G>A (p.Leu301=) | |
2 | g.127428469G>C | CA428618916 | PROC | c.909G>C (p.Leu303=) c.233G>C c.1011G>C (p.Leu337=) c.1092G>C (p.Leu364=) c.1074G>C (p.Leu358=) c.972G>C (p.Leu324=) n.1332-205C>G c.1152G>C (p.Leu384=) c.1254G>C (p.Leu418=) c.1194G>C (p.Leu398=) n.3607-205C>G n.4043-205C>G c.1077G>C (p.Leu359=) c.1095G>C (p.Leu365=) c.852G>C (p.Leu284=) c.885G>C (p.Leu295=) c.903G>C (p.Leu301=) | |
2 | g.127428469G>T | CA428618917 | PROC | c.909G>T (p.Leu303=) c.233G>T c.1011G>T (p.Leu337=) c.1092G>T (p.Leu364=) c.1074G>T (p.Leu358=) c.972G>T (p.Leu324=) n.1332-205C>A c.1152G>T (p.Leu384=) c.1254G>T (p.Leu418=) c.1194G>T (p.Leu398=) n.3607-205C>A n.4043-205C>A c.1077G>T (p.Leu359=) c.1095G>T (p.Leu365=) c.852G>T (p.Leu284=) c.885G>T (p.Leu295=) c.903G>T (p.Leu301=) | gnomAD v4 |
2 | g.127428469_127428470delinsGC | CA1286884487 | PROC | c.909_910delinsGC (p.Leu303=) c.233_234delinsGC c.1011_1012delinsGC (p.Leu337=) c.1092_1093delinsGC (p.Leu364=) c.1074_1075delinsGC (p.Leu358=) c.972_973delinsGC (p.Leu324=) n.1332-206_1332-205delinsGC c.1152_1153delinsGC (p.Leu384=) c.1254_1255delinsGC (p.Leu418=) c.1194_1195delinsGC (p.Leu398=) n.3607-206_3607-205delinsGC n.4043-206_4043-205delinsGC c.1077_1078delinsGC (p.Leu359=) c.1095_1096delinsGC (p.Leu365=) c.852_853delinsGC (p.Leu284=) c.885_886delinsGC (p.Leu295=) c.903_904delinsGC (p.Leu301=) | |
2 | g.127428470del | CA535640693 | PROC | c.910del (p.His304ThrfsTer12) c.234del c.1012del (p.His338ThrfsTer12) c.1093del (p.His365ThrfsTer12) c.1075del (p.His359ThrfsTer12) c.973del (p.His325ThrfsTer12) n.1332-206del c.1153del (p.His385ThrfsTer12) c.1255del (p.His419ThrfsTer12) c.1195del (p.His399ThrfsTer12) n.3607-206del n.4043-206del c.1078del (p.His360ThrfsTer12) c.1096del (p.His366ThrfsTer12) c.853del (p.His285ThrfsTer12) c.886del (p.His296ThrfsTer12) c.904del (p.His302ThrfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.127428470C>A | CA348404777 | PROC | c.910C>A (p.His304Asn) c.234C>A c.1012C>A (p.His338Asn) c.1093C>A (p.His365Asn) c.1075C>A (p.His359Asn) c.973C>A (p.His325Asn) n.1332-206G>T c.1153C>A (p.His385Asn) c.1255C>A (p.His419Asn) c.1195C>A (p.His399Asn) n.3607-206G>T n.4043-206G>T c.1078C>A (p.His360Asn) c.1096C>A (p.His366Asn) c.853C>A (p.His285Asn) c.886C>A (p.His296Asn) c.904C>A (p.His302Asn) | |
2 | g.127428470C= | CA1286884488 | PROC | c.910C= (p.His304=) c.234C= c.1012C= (p.His338=) c.1093C= (p.His365=) c.1075C= (p.His359=) c.973C= (p.His325=) n.1332-206G= c.1153C= (p.His385=) c.1255C= (p.His419=) c.1195C= (p.His399=) n.3607-206G= n.4043-206G= c.1078C= (p.His360=) c.1096C= (p.His366=) c.853C= (p.His285=) c.886C= (p.His296=) c.904C= (p.His302=) | |
2 | g.127428470C>G | CA348404783 | PROC | c.910C>G (p.His304Asp) c.234C>G c.1012C>G (p.His338Asp) c.1093C>G (p.His365Asp) c.1075C>G (p.His359Asp) c.973C>G (p.His325Asp) n.1332-206G>C c.1153C>G (p.His385Asp) c.1255C>G (p.His419Asp) c.1195C>G (p.His399Asp) n.3607-206G>C n.4043-206G>C c.1078C>G (p.His360Asp) c.1096C>G (p.His366Asp) c.853C>G (p.His285Asp) c.886C>G (p.His296Asp) c.904C>G (p.His302Asp) | |
2 | g.127428470C>T | CA1859486 | PROC | c.910C>T (p.His304Tyr) c.234C>T c.1012C>T (p.His338Tyr) c.1093C>T (p.His365Tyr) c.1075C>T (p.His359Tyr) c.973C>T (p.His325Tyr) n.1332-206G>A c.1153C>T (p.His385Tyr) c.1255C>T (p.His419Tyr) c.1195C>T (p.His399Tyr) n.3607-206G>A n.4043-206G>A c.1078C>T (p.His360Tyr) c.1096C>T (p.His366Tyr) c.853C>T (p.His285Tyr) c.886C>T (p.His296Tyr) c.904C>T (p.His302Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.127428471A= | CA1286884489 | PROC | c.911A= (p.His304=) c.235A= c.1013A= (p.His338=) c.1094A= (p.His365=) c.1076A= (p.His359=) c.974A= (p.His325=) n.1332-207T= c.1154A= (p.His385=) c.1256A= (p.His419=) c.1196A= (p.His399=) n.3607-207T= n.4043-207T= c.1079A= (p.His360=) c.1097A= (p.His366=) c.854A= (p.His285=) c.887A= (p.His296=) c.905A= (p.His302=) | |
2 | g.127428471A>C | CA348404789 | PROC | c.911A>C (p.His304Pro) c.235A>C c.1013A>C (p.His338Pro) c.1094A>C (p.His365Pro) c.1076A>C (p.His359Pro) c.974A>C (p.His325Pro) n.1332-207T>G c.1154A>C (p.His385Pro) c.1256A>C (p.His419Pro) c.1196A>C (p.His399Pro) n.3607-207T>G n.4043-207T>G c.1079A>C (p.His360Pro) c.1097A>C (p.His366Pro) c.854A>C (p.His285Pro) c.887A>C (p.His296Pro) c.905A>C (p.His302Pro) | dbSNP |
2 | g.127428471A>G | CA348404792 | PROC | c.911A>G (p.His304Arg) c.235A>G c.1013A>G (p.His338Arg) c.1094A>G (p.His365Arg) c.1076A>G (p.His359Arg) c.974A>G (p.His325Arg) n.1332-207T>C c.1154A>G (p.His385Arg) c.1256A>G (p.His419Arg) c.1196A>G (p.His399Arg) n.3607-207T>C n.4043-207T>C c.1079A>G (p.His360Arg) c.1097A>G (p.His366Arg) c.854A>G (p.His285Arg) c.887A>G (p.His296Arg) c.905A>G (p.His302Arg) | |
2 | g.127428471A>T | CA348404794 | PROC | c.911A>T (p.His304Leu) c.235A>T c.1013A>T (p.His338Leu) c.1094A>T (p.His365Leu) c.1076A>T (p.His359Leu) c.974A>T (p.His325Leu) n.1332-207T>A c.1154A>T (p.His385Leu) c.1256A>T (p.His419Leu) c.1196A>T (p.His399Leu) n.3607-207T>A n.4043-207T>A c.1079A>T (p.His360Leu) c.1097A>T (p.His366Leu) c.854A>T (p.His285Leu) c.887A>T (p.His296Leu) c.905A>T (p.His302Leu) | |
2 | g.127428472C>A | CA348404797 | PROC | c.912C>A (p.His304Gln) c.236C>A c.1014C>A (p.His338Gln) c.1095C>A (p.His365Gln) c.1077C>A (p.His359Gln) c.975C>A (p.His325Gln) n.1332-208G>T c.1155C>A (p.His385Gln) c.1257C>A (p.His419Gln) c.1197C>A (p.His399Gln) n.3607-208G>T n.4043-208G>T c.1080C>A (p.His360Gln) c.1098C>A (p.His366Gln) c.855C>A (p.His285Gln) c.888C>A (p.His296Gln) c.906C>A (p.His302Gln) | |
2 | g.127428472C>G | CA348404800 | PROC | c.912C>G (p.His304Gln) c.236C>G c.1014C>G (p.His338Gln) c.1095C>G (p.His365Gln) c.1077C>G (p.His359Gln) c.975C>G (p.His325Gln) n.1332-208G>C c.1155C>G (p.His385Gln) c.1257C>G (p.His419Gln) c.1197C>G (p.His399Gln) n.3607-208G>C n.4043-208G>C c.1080C>G (p.His360Gln) c.1098C>G (p.His366Gln) c.855C>G (p.His285Gln) c.888C>G (p.His296Gln) c.906C>G (p.His302Gln) | |
2 | g.127428472C>T | CA428618918 | PROC | c.912C>T (p.His304=) c.236C>T c.1014C>T (p.His338=) c.1095C>T (p.His365=) c.1077C>T (p.His359=) c.975C>T (p.His325=) n.1332-208G>A c.1155C>T (p.His385=) c.1257C>T (p.His419=) c.1197C>T (p.His399=) n.3607-208G>A n.4043-208G>A c.1080C>T (p.His360=) c.1098C>T (p.His366=) c.855C>T (p.His285=) c.888C>T (p.His296=) c.906C>T (p.His302=) | |
2 | g.127428473C>A | CA348404803 | PROC | c.913C>A (p.Leu305Met) c.237C>A c.1015C>A (p.Leu339Met) c.1096C>A (p.Leu366Met) c.1078C>A (p.Leu360Met) c.976C>A (p.Leu326Met) n.1332-209G>T c.1156C>A (p.Leu386Met) c.1258C>A (p.Leu420Met) c.1198C>A (p.Leu400Met) n.3607-209G>T n.4043-209G>T c.1081C>A (p.Leu361Met) c.1099C>A (p.Leu367Met) c.856C>A (p.Leu286Met) c.889C>A (p.Leu297Met) c.907C>A (p.Leu303Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.127428473C= | CA1286884491 | PROC | c.913C= (p.Leu305=) c.237C= c.1015C= (p.Leu339=) c.1096C= (p.Leu366=) c.1078C= (p.Leu360=) c.976C= (p.Leu326=) n.1332-209G= c.1156C= (p.Leu386=) c.1258C= (p.Leu420=) c.1198C= (p.Leu400=) n.3607-209G= n.4043-209G= c.1081C= (p.Leu361=) c.1099C= (p.Leu367=) c.856C= (p.Leu286=) c.889C= (p.Leu297=) c.907C= (p.Leu303=) | |
2 | g.127428473C>G | CA348404806 | PROC | c.913C>G (p.Leu305Val) c.237C>G c.1015C>G (p.Leu339Val) c.1096C>G (p.Leu366Val) c.1078C>G (p.Leu360Val) c.976C>G (p.Leu326Val) n.1332-209G>C c.1156C>G (p.Leu386Val) c.1258C>G (p.Leu420Val) c.1198C>G (p.Leu400Val) n.3607-209G>C n.4043-209G>C c.1081C>G (p.Leu361Val) c.1099C>G (p.Leu367Val) c.856C>G (p.Leu286Val) c.889C>G (p.Leu297Val) c.907C>G (p.Leu303Val) | |
2 | g.127428473C>T | CA428618919 | PROC | c.913C>T (p.Leu305=) c.237C>T c.1015C>T (p.Leu339=) c.1096C>T (p.Leu366=) c.1078C>T (p.Leu360=) c.976C>T (p.Leu326=) n.1332-209G>A c.1156C>T (p.Leu386=) c.1258C>T (p.Leu420=) c.1198C>T (p.Leu400=) n.3607-209G>A n.4043-209G>A c.1081C>T (p.Leu361=) c.1099C>T (p.Leu367=) c.856C>T (p.Leu286=) c.889C>T (p.Leu297=) c.907C>T (p.Leu303=) | gnomAD v4 |
2 | g.127428473_127428474delinsCT | CA1286884490 | PROC | c.913_914delinsCT (p.Leu305=) c.237_238delinsCT c.1015_1016delinsCT (p.Leu339=) c.1096_1097delinsCT (p.Leu366=) c.1078_1079delinsCT (p.Leu360=) c.976_977delinsCT (p.Leu326=) n.1332-210_1332-209delinsAG c.1156_1157delinsCT (p.Leu386=) c.1258_1259delinsCT (p.Leu420=) c.1198_1199delinsCT (p.Leu400=) n.3607-210_3607-209delinsAG n.4043-210_4043-209delinsAG c.1081_1082delinsCT (p.Leu361=) c.1099_1100delinsCT (p.Leu367=) c.856_857delinsCT (p.Leu286=) c.889_890delinsCT (p.Leu297=) c.907_908delinsCT (p.Leu303=) | |
2 | g.127428474_127428477dup | CA2586969910 | PROC | c.914_917dup (p.Gln307GlyfsTer?) c.238_241dup c.1016_1019dup (p.Gln341GlyfsTer?) c.1097_1100dup (p.Gln368GlyfsTer?) c.1079_1082dup (p.Gln362GlyfsTer?) c.977_980dup (p.Gln328GlyfsTer?) n.1332-212_1332-209dup c.1157_1160dup (p.Gln388GlyfsTer?) c.1259_1262dup (p.Gln422GlyfsTer?) c.1199_1202dup (p.Gln402GlyfsTer?) n.3607-212_3607-209dup n.4043-212_4043-209dup c.1082_1085dup (p.Gln363GlyfsTer?) c.1100_1103dup (p.Gln369GlyfsTer?) c.857_860dup (p.Gln288GlyfsTer?) c.890_893dup (p.Gln299GlyfsTer?) c.908_911dup (p.Gln305GlyfsTer?) | |
2 | g.127428474del | CA55350734 | PROC | c.914del (p.Leu305ArgfsTer11) c.238del c.1016del (p.Leu339ArgfsTer11) c.1097del (p.Leu366ArgfsTer11) c.1079del (p.Leu360ArgfsTer11) c.977del (p.Leu326ArgfsTer11) n.1332-210del c.1157del (p.Leu386ArgfsTer11) c.1259del (p.Leu420ArgfsTer11) c.1199del (p.Leu400ArgfsTer11) n.3607-210del n.4043-210del c.1082del (p.Leu361ArgfsTer11) c.1100del (p.Leu367ArgfsTer11) c.857del (p.Leu286ArgfsTer11) c.890del (p.Leu297ArgfsTer11) c.908del (p.Leu303ArgfsTer11) | dbSNP |
2 | g.127428474T>A | CA348404816 | PROC | c.914T>A (p.Leu305Gln) c.238T>A c.1016T>A (p.Leu339Gln) c.1097T>A (p.Leu366Gln) c.1079T>A (p.Leu360Gln) c.977T>A (p.Leu326Gln) n.1332-210A>T c.1157T>A (p.Leu386Gln) c.1259T>A (p.Leu420Gln) c.1199T>A (p.Leu400Gln) n.3607-210A>T n.4043-210A>T c.1082T>A (p.Leu361Gln) c.1100T>A (p.Leu367Gln) c.857T>A (p.Leu286Gln) c.890T>A (p.Leu297Gln) c.908T>A (p.Leu303Gln) | |
2 | g.127428474T>C | CA348404810 | PROC | c.914T>C (p.Leu305Pro) c.238T>C c.1016T>C (p.Leu339Pro) c.1097T>C (p.Leu366Pro) c.1079T>C (p.Leu360Pro) c.977T>C (p.Leu326Pro) n.1332-210A>G c.1157T>C (p.Leu386Pro) c.1259T>C (p.Leu420Pro) c.1199T>C (p.Leu400Pro) n.3607-210A>G n.4043-210A>G c.1082T>C (p.Leu361Pro) c.1100T>C (p.Leu367Pro) c.857T>C (p.Leu286Pro) c.890T>C (p.Leu297Pro) c.908T>C (p.Leu303Pro) | |
2 | g.127428474T>G | CA348404813 | PROC | c.914T>G (p.Leu305Arg) c.238T>G c.1016T>G (p.Leu339Arg) c.1097T>G (p.Leu366Arg) c.1079T>G (p.Leu360Arg) c.977T>G (p.Leu326Arg) n.1332-210A>C c.1157T>G (p.Leu386Arg) c.1259T>G (p.Leu420Arg) c.1199T>G (p.Leu400Arg) n.3607-210A>C n.4043-210A>C c.1082T>G (p.Leu361Arg) c.1100T>G (p.Leu367Arg) c.857T>G (p.Leu286Arg) c.890T>G (p.Leu297Arg) c.908T>G (p.Leu303Arg) | dbSNP |
2 | g.127428474T= | CA1286884492 | PROC | c.914T= (p.Leu305=) c.238T= c.1016T= (p.Leu339=) c.1097T= (p.Leu366=) c.1079T= (p.Leu360=) c.977T= (p.Leu326=) n.1332-210A= c.1157T= (p.Leu386=) c.1259T= (p.Leu420=) c.1199T= (p.Leu400=) n.3607-210A= n.4043-210A= c.1082T= (p.Leu361=) c.1100T= (p.Leu367=) c.857T= (p.Leu286=) c.890T= (p.Leu297=) c.908T= (p.Leu303=) | |
2 | g.127428474_127428476dup | CA2586969911 | PROC | c.914_916dup (p.Leu305_Ala306insVal) c.238_240dup c.1016_1018dup (p.Leu339_Ala340insVal) c.1097_1099dup (p.Leu366_Ala367insVal) c.1079_1081dup (p.Leu360_Ala361insVal) c.977_979dup (p.Leu326_Ala327insVal) n.1332-212_1332-210dup c.1157_1159dup (p.Leu386_Ala387insVal) c.1259_1261dup (p.Leu420_Ala421insVal) c.1199_1201dup (p.Leu400_Ala401insVal) n.3607-212_3607-210dup n.4043-212_4043-210dup c.1082_1084dup (p.Leu361_Ala362insVal) c.1100_1102dup (p.Leu367_Ala368insVal) c.857_859dup (p.Leu286_Ala287insVal) c.890_892dup (p.Leu297_Ala298insVal) c.908_910dup (p.Leu303_Ala304insVal) | |
2 | g.127428475G>A | CA428618920 | PROC | c.915G>A (p.Leu305=) c.239G>A c.1017G>A (p.Leu339=) c.1098G>A (p.Leu366=) c.1080G>A (p.Leu360=) c.978G>A (p.Leu326=) n.1332-211C>T c.1158G>A (p.Leu386=) c.1260G>A (p.Leu420=) c.1200G>A (p.Leu400=) n.3607-211C>T n.4043-211C>T c.1083G>A (p.Leu361=) c.1101G>A (p.Leu367=) c.858G>A (p.Leu286=) c.891G>A (p.Leu297=) c.909G>A (p.Leu303=) | gnomAD v4 |
2 | g.127428475G>C | CA428618921 | PROC | c.915G>C (p.Leu305=) c.239G>C c.1017G>C (p.Leu339=) c.1098G>C (p.Leu366=) c.1080G>C (p.Leu360=) c.978G>C (p.Leu326=) n.1332-211C>G c.1158G>C (p.Leu386=) c.1260G>C (p.Leu420=) c.1200G>C (p.Leu400=) n.3607-211C>G n.4043-211C>G c.1083G>C (p.Leu361=) c.1101G>C (p.Leu367=) c.858G>C (p.Leu286=) c.891G>C (p.Leu297=) c.909G>C (p.Leu303=) | |
2 | g.127428475G>T | CA428618922 | PROC | c.915G>T (p.Leu305=) c.239G>T c.1017G>T (p.Leu339=) c.1098G>T (p.Leu366=) c.1080G>T (p.Leu360=) c.978G>T (p.Leu326=) n.1332-211C>A c.1158G>T (p.Leu386=) c.1260G>T (p.Leu420=) c.1200G>T (p.Leu400=) n.3607-211C>A n.4043-211C>A c.1083G>T (p.Leu361=) c.1101G>T (p.Leu367=) c.858G>T (p.Leu286=) c.891G>T (p.Leu297=) c.909G>T (p.Leu303=) | |
2 | g.127428476G>A | CA348404819 | PROC | c.916G>A (p.Ala306Thr) c.240G>A c.1018G>A (p.Ala340Thr) c.1099G>A (p.Ala367Thr) c.1081G>A (p.Ala361Thr) c.979G>A (p.Ala327Thr) n.1332-212C>T c.1159G>A (p.Ala387Thr) c.1261G>A (p.Ala421Thr) c.1201G>A (p.Ala401Thr) n.3607-212C>T n.4043-212C>T c.1084G>A (p.Ala362Thr) c.1102G>A (p.Ala368Thr) c.859G>A (p.Ala287Thr) c.892G>A (p.Ala298Thr) c.910G>A (p.Ala304Thr) | |
2 | g.127428476G>C | CA348404822 | PROC | c.916G>C (p.Ala306Pro) c.240G>C c.1018G>C (p.Ala340Pro) c.1099G>C (p.Ala367Pro) c.1081G>C (p.Ala361Pro) c.979G>C (p.Ala327Pro) n.1332-212C>G c.1159G>C (p.Ala387Pro) c.1261G>C (p.Ala421Pro) c.1201G>C (p.Ala401Pro) n.3607-212C>G n.4043-212C>G c.1084G>C (p.Ala362Pro) c.1102G>C (p.Ala368Pro) c.859G>C (p.Ala287Pro) c.892G>C (p.Ala298Pro) c.910G>C (p.Ala304Pro) | |
2 | g.127428476G= | CA1286884493 | PROC | c.916G= (p.Ala306=) c.240G= c.1018G= (p.Ala340=) c.1099G= (p.Ala367=) c.1081G= (p.Ala361=) c.979G= (p.Ala327=) n.1332-212C= c.1159G= (p.Ala387=) c.1261G= (p.Ala421=) c.1201G= (p.Ala401=) n.3607-212C= n.4043-212C= c.1084G= (p.Ala362=) c.1102G= (p.Ala368=) c.859G= (p.Ala287=) c.892G= (p.Ala298=) c.910G= (p.Ala304=) | |
2 | g.127428476G>T | CA348404824 | PROC | c.916G>T (p.Ala306Ser) c.240G>T c.1018G>T (p.Ala340Ser) c.1099G>T (p.Ala367Ser) c.1081G>T (p.Ala361Ser) c.979G>T (p.Ala327Ser) n.1332-212C>A c.1159G>T (p.Ala387Ser) c.1261G>T (p.Ala421Ser) c.1201G>T (p.Ala401Ser) n.3607-212C>A n.4043-212C>A c.1084G>T (p.Ala362Ser) c.1102G>T (p.Ala368Ser) c.859G>T (p.Ala287Ser) c.892G>T (p.Ala298Ser) c.910G>T (p.Ala304Ser) | ClinVar dbSNP |
2 | g.127428477C>A | CA348404827 | PROC | c.917C>A (p.Ala306Asp) c.241C>A c.1019C>A (p.Ala340Asp) c.1100C>A (p.Ala367Asp) c.1082C>A (p.Ala361Asp) c.980C>A (p.Ala327Asp) n.1332-213G>T c.1160C>A (p.Ala387Asp) c.1262C>A (p.Ala421Asp) c.1202C>A (p.Ala401Asp) n.3607-213G>T n.4043-213G>T c.1085C>A (p.Ala362Asp) c.1103C>A (p.Ala368Asp) c.860C>A (p.Ala287Asp) c.893C>A (p.Ala298Asp) c.911C>A (p.Ala304Asp) | |
2 | g.127428477C>G | CA348404829 | PROC | c.917C>G (p.Ala306Gly) c.241C>G c.1019C>G (p.Ala340Gly) c.1100C>G (p.Ala367Gly) c.1082C>G (p.Ala361Gly) c.980C>G (p.Ala327Gly) n.1332-213G>C c.1160C>G (p.Ala387Gly) c.1262C>G (p.Ala421Gly) c.1202C>G (p.Ala401Gly) n.3607-213G>C n.4043-213G>C c.1085C>G (p.Ala362Gly) c.1103C>G (p.Ala368Gly) c.860C>G (p.Ala287Gly) c.893C>G (p.Ala298Gly) c.911C>G (p.Ala304Gly) | |
2 | g.127428477C>T | CA348404832 | PROC | c.917C>T (p.Ala306Val) c.241C>T c.1019C>T (p.Ala340Val) c.1100C>T (p.Ala367Val) c.1082C>T (p.Ala361Val) c.980C>T (p.Ala327Val) n.1332-213G>A c.1160C>T (p.Ala387Val) c.1262C>T (p.Ala421Val) c.1202C>T (p.Ala401Val) n.3607-213G>A n.4043-213G>A c.1085C>T (p.Ala362Val) c.1103C>T (p.Ala368Val) c.860C>T (p.Ala287Val) c.893C>T (p.Ala298Val) c.911C>T (p.Ala304Val) | |
2 | g.127428479dup | CA2842965951 | PROC | c.919dup (p.Gln307ProfsTer?) c.243dup c.1021dup (p.Gln341ProfsTer?) c.1102dup (p.Gln368ProfsTer?) c.1084dup (p.Gln362ProfsTer?) c.982dup (p.Gln328ProfsTer?) n.1332-213dup c.1162dup (p.Gln388ProfsTer?) c.1264dup (p.Gln422ProfsTer?) c.1204dup (p.Gln402ProfsTer?) n.3607-213dup n.4043-213dup c.1087dup (p.Gln363ProfsTer?) c.1105dup (p.Gln369ProfsTer?) c.862dup (p.Gln288ProfsTer?) c.895dup (p.Gln299ProfsTer?) c.913dup (p.Gln305ProfsTer?) |