| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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) |