Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113149180T>A | CA388793221 | F10 | c.1130T>A (p.Leu377His) c.*121T>A (n.*121T>A) c.998T>A (p.Leu333His) | |
13 | g.113149180T>C | CA388793222 | F10 | c.1130T>C (p.Leu377Pro) c.*121T>C (n.*121T>C) c.998T>C (p.Leu333Pro) | |
13 | g.113149180T>G | CA388793233 | F10 | c.1130T>G (p.Leu377Arg) c.*121T>G (n.*121T>G) c.998T>G (p.Leu333Arg) | |
13 | g.113149181C>A | CA485424160 | F10 | c.1131C>A (p.Leu377=) c.*122C>A (n.*122C>A) c.999C>A (p.Leu333=) | |
13 | g.113149181C= | CA2120140287 | F10 | c.1131C= (p.Leu377=) c.*122C= (n.*122C=) c.999C= (p.Leu333=) | |
13 | g.113149181C>G | CA485424161 | F10 | c.1131C>G (p.Leu377=) c.*122C>G (n.*122C>G) c.999C>G (p.Leu333=) | gnomAD v4 |
13 | g.113149181C>T | CA7060692 | F10 | c.1131C>T (p.Leu377=) c.*122C>T (n.*122C>T) c.999C>T (p.Leu333=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149182A= | CA2120140291 | F10 | c.1132A= (p.Lys378=) c.*123A= (n.*123A=) c.1000A= (p.Lys334=) | |
13 | g.113149182A>C | CA388793239 | F10 | c.1132A>C (p.Lys378Gln) c.*123A>C (n.*123A>C) c.1000A>C (p.Lys334Gln) | |
13 | g.113149182A>G | CA388793241 | F10 | c.1132A>G (p.Lys378Glu) c.*123A>G (n.*123A>G) c.1000A>G (p.Lys334Glu) | |
13 | g.113149182A>T | CA256478704 | F10 | c.1132A>T (p.Lys378Ter) c.*123A>T (n.*123A>T) c.1000A>T (p.Lys334Ter) | dbSNP |
13 | g.113149183A>C | CA388793246 | F10 | c.1133A>C (p.Lys378Thr) c.*124A>C (n.*124A>C) c.1001A>C (p.Lys334Thr) | |
13 | g.113149183A>G | CA388793252 | F10 | c.1133A>G (p.Lys378Arg) c.*124A>G (n.*124A>G) c.1001A>G (p.Lys334Arg) | gnomAD v4 |
13 | g.113149183A>T | CA388793249 | F10 | c.1133A>T (p.Lys378Met) c.*124A>T (n.*124A>T) c.1001A>T (p.Lys334Met) | |
13 | g.113149184G>A | CA485424165 | F10 | c.1134G>A (p.Lys378=) c.*125G>A (n.*125G>A) c.1002G>A (p.Lys334=) | |
13 | g.113149184G>C | CA388793254 | F10 | c.1134G>C (p.Lys378Asn) c.*125G>C (n.*125G>C) c.1002G>C (p.Lys334Asn) | gnomAD v4 |
13 | g.113149184G>T | CA388793258 | F10 | c.1134G>T (p.Lys378Asn) c.*125G>T (n.*125G>T) c.1002G>T (p.Lys334Asn) | |
13 | g.113149185A>C | CA388793260 | F10 | c.1135A>C (p.Met379Leu) c.*126A>C (n.*126A>C) c.1003A>C (p.Met335Leu) | |
13 | g.113149185A>G | CA388793261 | F10 | c.1135A>G (p.Met379Val) c.*126A>G (n.*126A>G) c.1003A>G (p.Met335Val) | gnomAD v4 |
13 | g.113149185A>T | CA388793264 | F10 | c.1135A>T (p.Met379Leu) c.*126A>T (n.*126A>T) c.1003A>T (p.Met335Leu) | |
13 | g.113149186T>A | CA388793267 | F10 | c.1136T>A (p.Met379Lys) c.*127T>A (n.*127T>A) c.1004T>A (p.Met335Lys) | |
13 | g.113149186T>C | CA7060693 | F10 | c.1136T>C (p.Met379Thr) c.*127T>C (n.*127T>C) c.1004T>C (p.Met335Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149186T>G | CA388793271 | F10 | c.1136T>G (p.Met379Arg) c.*127T>G (n.*127T>G) c.1004T>G (p.Met335Arg) | |
13 | g.113149186T= | CA2120140294 | F10 | c.1136T= (p.Met379=) c.*127T= (n.*127T=) c.1004T= (p.Met335=) | |
13 | g.113149187G>A | CA388793277 | F10 | c.1137G>A (p.Met379Ile) c.*128G>A (n.*128G>A) c.1005G>A (p.Met335Ile) | |
13 | g.113149187G>C | CA388793279 | F10 | c.1137G>C (p.Met379Ile) c.*128G>C (n.*128G>C) c.1005G>C (p.Met335Ile) | |
13 | g.113149187G>T | CA388793282 | F10 | c.1137G>T (p.Met379Ile) c.*128G>T (n.*128G>T) c.1005G>T (p.Met335Ile) | |
13 | g.113149188C>A | CA388793285 | F10 | c.1138C>A (p.Leu380Met) c.*129C>A (n.*129C>A) c.1006C>A (p.Leu336Met) | |
13 | g.113149188C>G | CA388793287 | F10 | c.1138C>G (p.Leu380Val) c.*129C>G (n.*129C>G) c.1006C>G (p.Leu336Val) | |
13 | g.113149188C>T | CA485424169 | F10 | c.1138C>T (p.Leu380=) c.*129C>T (n.*129C>T) c.1006C>T (p.Leu336=) | gnomAD v4 |
13 | g.113149189T>A | CA388793288 | F10 | c.1139T>A (p.Leu380Gln) c.*130T>A (n.*130T>A) c.1007T>A (p.Leu336Gln) | |
13 | g.113149189T>C | CA388793294 | F10 | c.1139T>C (p.Leu380Pro) c.*130T>C (n.*130T>C) c.1007T>C (p.Leu336Pro) | |
13 | g.113149189T>G | CA388793291 | F10 | c.1139T>G (p.Leu380Arg) c.*130T>G (n.*130T>G) c.1007T>G (p.Leu336Arg) | |
13 | g.113149190G>A | CA485424174 | F10 | c.1140G>A (p.Leu380=) c.*131G>A (n.*131G>A) c.1008G>A (p.Leu336=) | |
13 | g.113149190G>C | CA485424173 | F10 | c.1140G>C (p.Leu380=) c.*131G>C (n.*131G>C) c.1008G>C (p.Leu336=) | |
13 | g.113149190G>T | CA485424172 | F10 | c.1140G>T (p.Leu380=) c.*131G>T (n.*131G>T) c.1008G>T (p.Leu336=) | |
13 | g.113149191del | CA2695219010 | F10 | c.1141del (p.Glu381ArgfsTer?) c.*132del (n.*132del) c.1009del (p.Glu337ArgfsTer?) | |
13 | g.113149191G>A | CA388793298 | F10 | c.1141G>A (p.Glu381Lys) c.*132G>A (n.*132G>A) c.1009G>A (p.Glu337Lys) | |
13 | g.113149191G>C | CA388793300 | F10 | c.1141G>C (p.Glu381Gln) c.*132G>C (n.*132G>C) c.1009G>C (p.Glu337Gln) | gnomAD v4 |
13 | g.113149191G>T | CA388793301 | F10 | c.1141G>T (p.Glu381Ter) c.*132G>T (n.*132G>T) c.1009G>T (p.Glu337Ter) | |
13 | g.113149192A= | CA2120140296 | F10 | c.1142A= (p.Glu381=) c.*133A= (n.*133A=) c.1010A= (p.Glu337=) | |
13 | g.113149192A>C | CA388793305 | F10 | c.1142A>C (p.Glu381Ala) c.*133A>C (n.*133A>C) c.1010A>C (p.Glu337Ala) | |
13 | g.113149192A>G | CA388793307 | F10 | c.1142A>G (p.Glu381Gly) c.*133A>G (n.*133A>G) c.1010A>G (p.Glu337Gly) | |
13 | g.113149192A>T | CA388793310 | F10 | c.1142A>T (p.Glu381Val) c.*133A>T (n.*133A>T) c.1010A>T (p.Glu337Val) | dbSNP gnomAD v4 |
13 | g.113149193G>A | CA485424176 | F10 | c.1143G>A (p.Glu381=) c.*134G>A (n.*134G>A) c.1011G>A (p.Glu337=) | |
13 | g.113149193G>C | CA388793313 | F10 | c.1143G>C (p.Glu381Asp) c.*134G>C (n.*134G>C) c.1011G>C (p.Glu337Asp) | |
13 | g.113149193G>T | CA388793316 | F10 | c.1143G>T (p.Glu381Asp) c.*134G>T (n.*134G>T) c.1011G>T (p.Glu337Asp) | |
13 | g.113149194G>A | CA388793319 | F10 | c.1144G>A (p.Val382Met) c.*135G>A (n.*135G>A) c.1012G>A (p.Val338Met) | |
13 | g.113149194G>C | CA388793321 | F10 | c.1144G>C (p.Val382Leu) c.*135G>C (n.*135G>C) c.1012G>C (p.Val338Leu) | |
13 | g.113149194G>T | CA388793323 | F10 | c.1144G>T (p.Val382Leu) c.*135G>T (n.*135G>T) c.1012G>T (p.Val338Leu) | gnomAD v4 |
13 | g.113149195T>A | CA388793332 | F10 | c.1145T>A (p.Val382Glu) c.*136T>A (n.*136T>A) c.1013T>A (p.Val338Glu) | |
13 | g.113149195T>C | CA388793329 | F10 | c.1145T>C (p.Val382Ala) c.*136T>C (n.*136T>C) c.1013T>C (p.Val338Ala) | dbSNP gnomAD v4 |
13 | g.113149195T>G | CA388793326 | F10 | c.1145T>G (p.Val382Gly) c.*136T>G (n.*136T>G) c.1013T>G (p.Val338Gly) | dbSNP |
13 | g.113149195T= | CA2120140298 | F10 | c.1145T= (p.Val382=) c.*136T= (n.*136T=) c.1013T= (p.Val338=) | |
13 | g.113149196G>A | CA485424181 | F10 | c.1146G>A (p.Val382=) c.*137G>A (n.*137G>A) c.1014G>A (p.Val338=) | |
13 | g.113149196G>C | CA485424182 | F10 | c.1146G>C (p.Val382=) c.*137G>C (n.*137G>C) c.1014G>C (p.Val338=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149196G= | CA2120140300 | F10 | c.1146G= (p.Val382=) c.*137G= (n.*137G=) c.1014G= (p.Val338=) | |
13 | g.113149196G>T | CA485424183 | F10 | c.1146G>T (p.Val382=) c.*137G>T (n.*137G>T) c.1014G>T (p.Val338=) | |
13 | g.113149197C>A | CA388793340 | F10 | c.1147C>A (p.Pro383Thr) c.*138C>A (n.*138C>A) c.1015C>A (p.Pro339Thr) | |
13 | g.113149197C= | CA2120140302 | F10 | c.1147C= (p.Pro383=) c.*138C= (n.*138C=) c.1015C= (p.Pro339=) | |
13 | g.113149197C>G | CA388793335 | F10 | c.1147C>G (p.Pro383Ala) c.*138C>G (n.*138C>G) c.1015C>G (p.Pro339Ala) | |
13 | g.113149197C>T | CA256478706 | F10 | c.1147C>T (p.Pro383Ser) c.*138C>T (n.*138C>T) c.1015C>T (p.Pro339Ser) | ClinVar dbSNP gnomAD v4 |
13 | g.113149198C>A | CA388793344 | F10 | c.1148C>A (p.Pro383His) c.*139C>A (n.*139C>A) c.1016C>A (p.Pro339His) | |
13 | g.113149198C>G | CA388793347 | F10 | c.1148C>G (p.Pro383Arg) c.*139C>G (n.*139C>G) c.1016C>G (p.Pro339Arg) | |
13 | g.113149198C>T | CA388793346 | F10 | c.1148C>T (p.Pro383Leu) c.*139C>T (n.*139C>T) c.1016C>T (p.Pro339Leu) | |
13 | g.113149199C>A | CA485424185 | F10 | c.1149C>A (p.Pro383=) c.*140C>A (n.*140C>A) c.1017C>A (p.Pro339=) | |
13 | g.113149199C>G | CA485424186 | F10 | c.1149C>G (p.Pro383=) c.*140C>G (n.*140C>G) c.1017C>G (p.Pro339=) | |
13 | g.113149199C>T | CA485424187 | F10 | c.1149C>T (p.Pro383=) c.*140C>T (n.*140C>T) c.1017C>T (p.Pro339=) | |
13 | g.113149200T>A | CA388793349 | F10 | c.1150T>A (p.Tyr384Asn) c.*141T>A (n.*141T>A) c.1018T>A (p.Tyr340Asn) | |
13 | g.113149200T>C | CA388793352 | F10 | c.1150T>C (p.Tyr384His) c.*141T>C (n.*141T>C) c.1018T>C (p.Tyr340His) | |
13 | g.113149200T>G | CA388793355 | F10 | c.1150T>G (p.Tyr384Asp) c.*141T>G (n.*141T>G) c.1018T>G (p.Tyr340Asp) | |
13 | g.113149200_113149217delinsTACGTGGACCGCAACAGC | CA2120140304 | F10 | c.1150_1167delinsTACGTGGACCGCAACAGC (p.Tyr384=) c.*141_*158delinsTACGTGGACCGCAACAGC (n.*141_*158delinsTACGTGGACCGCAACAGC) c.1018_1035delinsTACGTGGACCGCAACAGC (p.Tyr340=) | |
13 | g.113149201A= | CA2120140307 | F10 | c.1151A= (p.Tyr384=) c.*142A= (n.*142A=) c.1019A= (p.Tyr340=) | |
13 | g.113149201A>C | CA388793357 | F10 | c.1151A>C (p.Tyr384Ser) c.*142A>C (n.*142A>C) c.1019A>C (p.Tyr340Ser) | |
13 | g.113149201A>G | CA7060694 | F10 | c.1151A>G (p.Tyr384Cys) c.*142A>G (n.*142A>G) c.1019A>G (p.Tyr340Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149201A>T | CA388793359 | F10 | c.1151A>T (p.Tyr384Phe) c.*142A>T (n.*142A>T) c.1019A>T (p.Tyr340Phe) | gnomAD v4 |
13 | g.113149201_113149217del | CA612868319 | F10 | c.1151_1167del (p.Tyr384LeufsTer?) c.*142_*158del (n.*142_*158del) c.1019_1035del (p.Tyr340LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149202C>A | CA388793365 | F10 | c.1152C>A (p.Tyr384Ter) c.*143C>A (n.*143C>A) c.1020C>A (p.Tyr340Ter) | dbSNP gnomAD v2 |
13 | g.113149202C= | CA2120140309 | F10 | c.1152C= (p.Tyr384=) c.*143C= (n.*143C=) c.1020C= (p.Tyr340=) | |
13 | g.113149202C>G | CA388793363 | F10 | c.1152C>G (p.Tyr384Ter) c.*143C>G (n.*143C>G) c.1020C>G (p.Tyr340Ter) | |
13 | g.113149202C>T | CA7060695 | F10 | c.1152C>T (p.Tyr384=) c.*143C>T (n.*143C>T) c.1020C>T (p.Tyr340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149202_113149218del | CA658795160 | F10 | c.1152_1168del (p.Tyr384Ter) c.*143_*159del (n.*143_*159del) c.1020_1036del (p.Tyr340Ter) | |
13 | g.113149203G>A | CA7060696 | F10 | c.1153G>A (p.Val385Met) c.*144G>A (n.*144G>A) c.1021G>A (p.Val341Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149203G>C | CA388793369 | F10 | c.1153G>C (p.Val385Leu) c.*144G>C (n.*144G>C) c.1021G>C (p.Val341Leu) | |
13 | g.113149203G= | CA2120140312 | F10 | c.1153G= (p.Val385=) c.*144G= (n.*144G=) c.1021G= (p.Val341=) | |
13 | g.113149203G>T | CA388793370 | F10 | c.1153G>T (p.Val385Leu) c.*144G>T (n.*144G>T) c.1021G>T (p.Val341Leu) | |
13 | g.113149204T>A | CA388793372 | F10 | c.1154T>A (p.Val385Glu) c.*145T>A (n.*145T>A) c.1022T>A (p.Val341Glu) | |
13 | g.113149204T>C | CA388793373 | F10 | c.1154T>C (p.Val385Ala) c.*145T>C (n.*145T>C) c.1022T>C (p.Val341Ala) | |
13 | g.113149204T>G | CA388793375 | F10 | c.1154T>G (p.Val385Gly) c.*145T>G (n.*145T>G) c.1022T>G (p.Val341Gly) | |
13 | g.113149205G>A | CA485424194 | F10 | c.1155G>A (p.Val385=) c.*146G>A (n.*146G>A) c.1023G>A (p.Val341=) | |
13 | g.113149205G>C | CA485424192 | F10 | c.1155G>C (p.Val385=) c.*146G>C (n.*146G>C) c.1023G>C (p.Val341=) | |
13 | g.113149205G>T | CA485424193 | F10 | c.1155G>T (p.Val385=) c.*146G>T (n.*146G>T) c.1023G>T (p.Val341=) | |
13 | g.113149206G>A | CA388793376 | F10 | c.1156G>A (p.Asp386Asn) c.*147G>A (n.*147G>A) c.1024G>A (p.Asp342Asn) | |
13 | g.113149206G>C | CA388793382 | F10 | c.1156G>C (p.Asp386His) c.*147G>C (n.*147G>C) c.1024G>C (p.Asp342His) | |
13 | g.113149206G>T | CA388793378 | F10 | c.1156G>T (p.Asp386Tyr) c.*147G>T (n.*147G>T) c.1024G>T (p.Asp342Tyr) | |
13 | g.113149207A>C | CA388793388 | F10 | c.1157A>C (p.Asp386Ala) c.*148A>C (n.*148A>C) c.1025A>C (p.Asp342Ala) | gnomAD v4 |
13 | g.113149207A>G | CA388793390 | F10 | c.1157A>G (p.Asp386Gly) c.*148A>G (n.*148A>G) c.1025A>G (p.Asp342Gly) | |
13 | g.113149207A>T | CA388793393 | F10 | c.1157A>T (p.Asp386Val) c.*148A>T (n.*148A>T) c.1025A>T (p.Asp342Val) | |
13 | g.113149208C>A | CA388793395 | F10 | c.1158C>A (p.Asp386Glu) c.*149C>A (n.*149C>A) c.1026C>A (p.Asp342Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149208C= | CA2120140315 | F10 | c.1158C= (p.Asp386=) c.*149C= (n.*149C=) c.1026C= (p.Asp342=) | |
13 | g.113149208C>G | CA388793397 | F10 | c.1158C>G (p.Asp386Glu) c.*149C>G (n.*149C>G) c.1026C>G (p.Asp342Glu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149208C>T | CA485424196 | F10 | c.1158C>T (p.Asp386=) c.*149C>T (n.*149C>T) c.1026C>T (p.Asp342=) | gnomAD v4 |
13 | g.113149209C>A | CA388793399 | F10 | c.1159C>A (p.Arg387Ser) c.*150C>A (n.*150C>A) c.1027C>A (p.Arg343Ser) | |
13 | g.113149209C= | CA2120140319 | F10 | c.1159C= (p.Arg387=) c.*150C= (n.*150C=) c.1027C= (p.Arg343=) | |
13 | g.113149209C>G | CA388793401 | F10 | c.1159C>G (p.Arg387Gly) c.*150C>G (n.*150C>G) c.1027C>G (p.Arg343Gly) | gnomAD v4 |
13 | g.113149209C>T | CA7060697 | F10 | c.1159C>T (p.Arg387Cys) c.*150C>T (n.*150C>T) c.1027C>T (p.Arg343Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149210G>A | CA388793403 | F10 | c.1160G>A (p.Arg387His) c.*151G>A (n.*151G>A) c.1028G>A (p.Arg343His) | dbSNP gnomAD v4 COSMIC |
13 | g.113149210G>C | CA388793404 | F10 | c.1160G>C (p.Arg387Pro) c.*151G>C (n.*151G>C) c.1028G>C (p.Arg343Pro) | |
13 | g.113149210G= | CA2120140323 | F10 | c.1160G= (p.Arg387=) c.*151G= (n.*151G=) c.1028G= (p.Arg343=) | |
13 | g.113149210G>T | CA388793407 | F10 | c.1160G>T (p.Arg387Leu) c.*151G>T (n.*151G>T) c.1028G>T (p.Arg343Leu) | |
13 | g.113149211C>A | CA485424199 | F10 | c.1161C>A (p.Arg387=) c.*152C>A (n.*152C>A) c.1029C>A (p.Arg343=) | |
13 | g.113149211C>G | CA485424201 | F10 | c.1161C>G (p.Arg387=) c.*152C>G (n.*152C>G) c.1029C>G (p.Arg343=) | |
13 | g.113149211C>T | CA485424202 | F10 | c.1161C>T (p.Arg387=) c.*152C>T (n.*152C>T) c.1029C>T (p.Arg343=) | |
13 | g.113149212A>C | CA388793411 | F10 | c.1162A>C (p.Asn388His) c.*153A>C (n.*153A>C) c.1030A>C (p.Asn344His) | |
13 | g.113149212A>G | CA388793414 | F10 | c.1162A>G (p.Asn388Asp) c.*153A>G (n.*153A>G) c.1030A>G (p.Asn344Asp) | |
13 | g.113149212A>T | CA388793412 | F10 | c.1162A>T (p.Asn388Tyr) c.*153A>T (n.*153A>T) c.1030A>T (p.Asn344Tyr) | |
13 | g.113149213A= | CA2120140325 | F10 | c.1163A= (p.Asn388=) c.*154A= (n.*154A=) c.1031A= (p.Asn344=) | |
13 | g.113149213A>C | CA388793415 | F10 | c.1163A>C (p.Asn388Thr) c.*154A>C (n.*154A>C) c.1031A>C (p.Asn344Thr) | |
13 | g.113149213A>G | CA7060698 | F10 | c.1163A>G (p.Asn388Ser) c.*154A>G (n.*154A>G) c.1031A>G (p.Asn344Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149213A>T | CA388793418 | F10 | c.1163A>T (p.Asn388Ile) c.*154A>T (n.*154A>T) c.1031A>T (p.Asn344Ile) | |
13 | g.113149214C>A | CA7060699 | F10 | c.1164C>A (p.Asn388Lys) c.*155C>A (n.*155C>A) c.1032C>A (p.Asn344Lys) | dbSNP ExAC gnomAD v2 |
13 | g.113149214C= | CA2120140327 | F10 | c.1164C= (p.Asn388=) c.*155C= (n.*155C=) c.1032C= (p.Asn344=) | |
13 | g.113149214C>G | CA388793420 | F10 | c.1164C>G (p.Asn388Lys) c.*155C>G (n.*155C>G) c.1032C>G (p.Asn344Lys) | |
13 | g.113149214C>T | CA485424203 | F10 | c.1164C>T (p.Asn388=) c.*155C>T (n.*155C>T) c.1032C>T (p.Asn344=) | gnomAD v4 |
13 | g.113149215A= | CA2120140329 | F10 | c.1165A= (p.Ser389=) c.*156A= (n.*156A=) c.1033A= (p.Ser345=) | |
13 | g.113149215A>C | CA256478712 | F10 | c.1165A>C (p.Ser389Arg) c.*156A>C (n.*156A>C) c.1033A>C (p.Ser345Arg) | dbSNP |
13 | g.113149215A>G | CA388793423 | F10 | c.1165A>G (p.Ser389Gly) c.*156A>G (n.*156A>G) c.1033A>G (p.Ser345Gly) | |
13 | g.113149215A>T | CA388793425 | F10 | c.1165A>T (p.Ser389Cys) c.*156A>T (n.*156A>T) c.1033A>T (p.Ser345Cys) | |
13 | g.113149216G>A | CA388793428 | F10 | c.1166G>A (p.Ser389Asn) c.*157G>A (n.*157G>A) c.1034G>A (p.Ser345Asn) | |
13 | g.113149216G>C | CA388793429 | F10 | c.1166G>C (p.Ser389Thr) c.*157G>C (n.*157G>C) c.1034G>C (p.Ser345Thr) | gnomAD v4 |
13 | g.113149216G>T | CA388793432 | F10 | c.1166G>T (p.Ser389Ile) c.*157G>T (n.*157G>T) c.1034G>T (p.Ser345Ile) | |
13 | g.113149217C>A | CA388793434 | F10 | c.1167C>A (p.Ser389Arg) c.*158C>A (n.*158C>A) c.1035C>A (p.Ser345Arg) | |
13 | g.113149217C>G | CA388793435 | F10 | c.1167C>G (p.Ser389Arg) c.*158C>G (n.*158C>G) c.1035C>G (p.Ser345Arg) | |
13 | g.113149217C>T | CA485424205 | F10 | c.1167C>T (p.Ser389=) c.*158C>T (n.*158C>T) c.1035C>T (p.Ser345=) | |
13 | g.113149218T>A | CA388793438 | F10 | c.1168T>A (p.Cys390Ser) c.*159T>A (n.*159T>A) c.1036T>A (p.Cys346Ser) | |
13 | g.113149218T>C | CA388793442 | F10 | c.1168T>C (p.Cys390Arg) c.*159T>C (n.*159T>C) c.1036T>C (p.Cys346Arg) | |
13 | g.113149218T>G | CA388793440 | F10 | c.1168T>G (p.Cys390Gly) c.*159T>G (n.*159T>G) c.1036T>G (p.Cys346Gly) | |
13 | g.113149219G>A | CA388793444 | F10 | c.1169G>A (p.Cys390Tyr) c.*160G>A (n.*160G>A) c.1037G>A (p.Cys346Tyr) | gnomAD v4 |
13 | g.113149219G>C | CA388793446 | F10 | c.1169G>C (p.Cys390Ser) c.*160G>C (n.*160G>C) c.1037G>C (p.Cys346Ser) | gnomAD v4 |
13 | g.113149219G= | CA2120140333 | F10 | c.1169G= (p.Cys390=) c.*160G= (n.*160G=) c.1037G= (p.Cys346=) | |
13 | g.113149219G>T | CA7060700 | F10 | c.1169G>T (p.Cys390Phe) c.*160G>T (n.*160G>T) c.1037G>T (p.Cys346Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149220C>A | CA388793451 | F10 | c.1170C>A (p.Cys390Ter) c.*161C>A (n.*161C>A) c.1038C>A (p.Cys346Ter) | |
13 | g.113149220C>G | CA388793456 | F10 | c.1170C>G (p.Cys390Trp) c.*161C>G (n.*161C>G) c.1038C>G (p.Cys346Trp) | |
13 | g.113149220C>T | CA485424208 | F10 | c.1170C>T (p.Cys390=) c.*161C>T (n.*161C>T) c.1038C>T (p.Cys346=) | |
13 | g.113149221A>C | CA388793458 | F10 | c.1171A>C (p.Lys391Gln) c.*162A>C (n.*162A>C) c.1039A>C (p.Lys347Gln) | |
13 | g.113149221A>G | CA388793461 | F10 | c.1171A>G (p.Lys391Glu) c.*162A>G (n.*162A>G) c.1039A>G (p.Lys347Glu) | |
13 | g.113149221A>T | CA388793462 | F10 | c.1171A>T (p.Lys391Ter) c.*162A>T (n.*162A>T) c.1039A>T (p.Lys347Ter) | |
13 | g.113149222A>C | CA388793465 | F10 | c.1172A>C (p.Lys391Thr) c.*163A>C (n.*163A>C) c.1040A>C (p.Lys347Thr) | |
13 | g.113149222A>G | CA388793468 | F10 | c.1172A>G (p.Lys391Arg) c.*163A>G (n.*163A>G) c.1040A>G (p.Lys347Arg) | |
13 | g.113149222A>T | CA388793471 | F10 | c.1172A>T (p.Lys391Met) c.*163A>T (n.*163A>T) c.1040A>T (p.Lys347Met) | |
13 | g.113149223G>A | CA485424210 | F10 | c.1173G>A (p.Lys391=) c.*164G>A (n.*164G>A) c.1041G>A (p.Lys347=) | |
13 | g.113149223G>C | CA388793476 | F10 | c.1173G>C (p.Lys391Asn) c.*164G>C (n.*164G>C) c.1041G>C (p.Lys347Asn) | |
13 | g.113149223G>T | CA388793474 | F10 | c.1173G>T (p.Lys391Asn) c.*164G>T (n.*164G>T) c.1041G>T (p.Lys347Asn) | |
13 | g.113149224C>A | CA388793479 | F10 | c.1174C>A (p.Leu392Met) c.*165C>A (n.*165C>A) c.1042C>A (p.Leu348Met) | |
13 | g.113149224C>G | CA388793481 | F10 | c.1174C>G (p.Leu392Val) c.*165C>G (n.*165C>G) c.1042C>G (p.Leu348Val) | |
13 | g.113149224C>T | CA485424211 | F10 | c.1174C>T (p.Leu392=) c.*165C>T (n.*165C>T) c.1042C>T (p.Leu348=) | |
13 | g.113149225T>A | CA388793484 | F10 | c.1175T>A (p.Leu392Gln) c.*166T>A (n.*166T>A) c.1043T>A (p.Leu348Gln) | |
13 | g.113149225T>C | CA388793487 | F10 | c.1175T>C (p.Leu392Pro) c.*166T>C (n.*166T>C) c.1043T>C (p.Leu348Pro) | |
13 | g.113149225T>G | CA388793489 | F10 | c.1175T>G (p.Leu392Arg) c.*166T>G (n.*166T>G) c.1043T>G (p.Leu348Arg) | |
13 | g.113149226G>A | CA485424221 | F10 | c.1176G>A (p.Leu392=) c.*167G>A (n.*167G>A) c.1044G>A (p.Leu348=) | |
13 | g.113149226G>C | CA485424224 | F10 | c.1176G>C (p.Leu392=) c.*167G>C (n.*167G>C) c.1044G>C (p.Leu348=) | |
13 | g.113149226G>T | CA485424226 | F10 | c.1176G>T (p.Leu392=) c.*167G>T (n.*167G>T) c.1044G>T (p.Leu348=) | |
13 | g.113149227T>A | CA388793495 | F10 | c.1177T>A (p.Ser393Thr) c.*168T>A (n.*168T>A) c.1045T>A (p.Ser349Thr) | |
13 | g.113149227T>C | CA388793493 | F10 | c.1177T>C (p.Ser393Pro) c.*168T>C (n.*168T>C) c.1045T>C (p.Ser349Pro) | |
13 | g.113149227T>G | CA388793491 | F10 | c.1177T>G (p.Ser393Ala) c.*168T>G (n.*168T>G) c.1045T>G (p.Ser349Ala) | |
13 | g.113149228C>A | CA388793498 | F10 | c.1178C>A (p.Ser393Tyr) c.*169C>A (n.*169C>A) c.1046C>A (p.Ser349Tyr) | |
13 | g.113149228C>G | CA388793499 | F10 | c.1178C>G (p.Ser393Cys) c.*169C>G (n.*169C>G) c.1046C>G (p.Ser349Cys) | |
13 | g.113149228C>T | CA388793501 | F10 | c.1178C>T (p.Ser393Phe) c.*169C>T (n.*169C>T) c.1046C>T (p.Ser349Phe) | |
13 | g.113149229C>A | CA485424242 | F10 | c.1179C>A (p.Ser393=) c.*170C>A (n.*170C>A) c.1047C>A (p.Ser349=) | |
13 | g.113149229C>G | CA485424244 | F10 | c.1179C>G (p.Ser393=) c.*170C>G (n.*170C>G) c.1047C>G (p.Ser349=) | |
13 | g.113149229C>T | CA485424247 | F10 | c.1179C>T (p.Ser393=) c.*170C>T (n.*170C>T) c.1047C>T (p.Ser349=) | |
13 | g.113149230A>C | CA388793505 | F10 | c.1180A>C (p.Ser394Arg) c.*171A>C (n.*171A>C) c.1048A>C (p.Ser350Arg) | gnomAD v4 |
13 | g.113149230A>G | CA388793507 | F10 | c.1180A>G (p.Ser394Gly) c.*171A>G (n.*171A>G) c.1048A>G (p.Ser350Gly) | |
13 | g.113149230A>T | CA388793508 | F10 | c.1180A>T (p.Ser394Cys) c.*171A>T (n.*171A>T) c.1048A>T (p.Ser350Cys) | |
13 | g.113149231G>A | CA388793516 | F10 | c.1181G>A (p.Ser394Asn) c.*172G>A (n.*172G>A) c.1049G>A (p.Ser350Asn) | |
13 | g.113149231G>C | CA388793512 | F10 | c.1181G>C (p.Ser394Thr) c.*172G>C (n.*172G>C) c.1049G>C (p.Ser350Thr) | |
13 | g.113149231G>T | CA388793515 | F10 | c.1181G>T (p.Ser394Ile) c.*172G>T (n.*172G>T) c.1049G>T (p.Ser350Ile) | |
13 | g.113149232C>A | CA388793519 | F10 | c.1182C>A (p.Ser394Arg) c.*173C>A (n.*173C>A) c.1050C>A (p.Ser350Arg) | |
13 | g.113149232C>G | CA388793522 | F10 | c.1182C>G (p.Ser394Arg) c.*173C>G (n.*173C>G) c.1050C>G (p.Ser350Arg) | |
13 | g.113149232C>T | CA485424264 | F10 | c.1182C>T (p.Ser394=) c.*173C>T (n.*173C>T) c.1050C>T (p.Ser350=) | |
13 | g.113149233A>C | CA388793523 | F10 | c.1183A>C (p.Ser395Arg) c.*174A>C (n.*174A>C) c.1051A>C (p.Ser351Arg) | |
13 | g.113149233A>G | CA388793524 | F10 | c.1183A>G (p.Ser395Gly) c.*174A>G (n.*174A>G) c.1051A>G (p.Ser351Gly) | |
13 | g.113149233A>T | CA388793525 | F10 | c.1183A>T (p.Ser395Cys) c.*174A>T (n.*174A>T) c.1051A>T (p.Ser351Cys) | |
13 | g.113149234G>A | CA388793527 | F10 | c.1184G>A (p.Ser395Asn) c.*175G>A (n.*175G>A) c.1052G>A (p.Ser351Asn) | |
13 | g.113149234G>C | CA388793530 | F10 | c.1184G>C (p.Ser395Thr) c.*175G>C (n.*175G>C) c.1052G>C (p.Ser351Thr) | |
13 | g.113149234G>T | CA388793532 | F10 | c.1184G>T (p.Ser395Ile) c.*175G>T (n.*175G>T) c.1052G>T (p.Ser351Ile) | |
13 | g.113149235C>A | CA388793534 | F10 | c.1185C>A (p.Ser395Arg) c.*176C>A (n.*176C>A) c.1053C>A (p.Ser351Arg) | |
13 | g.113149235C>G | CA388793537 | F10 | c.1185C>G (p.Ser395Arg) c.*176C>G (n.*176C>G) c.1053C>G (p.Ser351Arg) | |
13 | g.113149235C>T | CA485424282 | F10 | c.1185C>T (p.Ser395=) c.*176C>T (n.*176C>T) c.1053C>T (p.Ser351=) | gnomAD v4 |
13 | g.113149236T>A | CA388793539 | F10 | c.1186T>A (p.Phe396Ile) c.*177T>A (n.*177T>A) c.1054T>A (p.Phe352Ile) | |
13 | g.113149236T>C | CA388793540 | F10 | c.1186T>C (p.Phe396Leu) c.*177T>C (n.*177T>C) c.1054T>C (p.Phe352Leu) | |
13 | g.113149236T>G | CA388793542 | F10 | c.1186T>G (p.Phe396Val) c.*177T>G (n.*177T>G) c.1054T>G (p.Phe352Val) | |
13 | g.113149237T>A | CA388793552 | F10 | c.1187T>A (p.Phe396Tyr) c.*178T>A (n.*178T>A) c.1055T>A (p.Phe352Tyr) | |
13 | g.113149237T>C | CA388793547 | F10 | c.1187T>C (p.Phe396Ser) c.*178T>C (n.*178T>C) c.1055T>C (p.Phe352Ser) | |
13 | g.113149237T>G | CA388793550 | F10 | c.1187T>G (p.Phe396Cys) c.*178T>G (n.*178T>G) c.1055T>G (p.Phe352Cys) | |
13 | g.113149238C>A | CA388793553 | F10 | c.1188C>A (p.Phe396Leu) c.*179C>A (n.*179C>A) c.1056C>A (p.Phe352Leu) | |
13 | g.113149238C>G | CA388793554 | F10 | c.1188C>G (p.Phe396Leu) c.*179C>G (n.*179C>G) c.1056C>G (p.Phe352Leu) | |
13 | g.113149238C>T | CA485424302 | F10 | c.1188C>T (p.Phe396=) c.*179C>T (n.*179C>T) c.1056C>T (p.Phe352=) | |
13 | g.113149239A= | CA2120140336 | F10 | c.1189A= (p.Ile397=) c.*180A= (n.*180A=) c.1057A= (p.Ile353=) | |
13 | g.113149239A>C | CA388793557 | F10 | c.1189A>C (p.Ile397Leu) c.*180A>C (n.*180A>C) c.1057A>C (p.Ile353Leu) | |
13 | g.113149239A>G | CA256478714 | F10 | c.1189A>G (p.Ile397Val) c.*180A>G (n.*180A>G) c.1057A>G (p.Ile353Val) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149239A>T | CA388793561 | F10 | c.1189A>T (p.Ile397Phe) c.*180A>T (n.*180A>T) c.1057A>T (p.Ile353Phe) | |
13 | g.113149240T>A | CA388793564 | F10 | c.1190T>A (p.Ile397Asn) c.*181T>A (n.*181T>A) c.1058T>A (p.Ile353Asn) | |
13 | g.113149240T>C | CA388793567 | F10 | c.1190T>C (p.Ile397Thr) c.*181T>C (n.*181T>C) c.1058T>C (p.Ile353Thr) | |
13 | g.113149240T>G | CA388793570 | F10 | c.1190T>G (p.Ile397Ser) c.*181T>G (n.*181T>G) c.1058T>G (p.Ile353Ser) | |
13 | g.113149241C>A | CA485424316 | F10 | c.1191C>A (p.Ile397=) c.*182C>A (n.*182C>A) c.1059C>A (p.Ile353=) | |
13 | g.113149241C>G | CA388793572 | F10 | c.1191C>G (p.Ile397Met) c.*182C>G (n.*182C>G) c.1059C>G (p.Ile353Met) | |
13 | g.113149241C>T | CA485424320 | F10 | c.1191C>T (p.Ile397=) c.*182C>T (n.*182C>T) c.1059C>T (p.Ile353=) | |
13 | g.113149242A= | CA2120140338 | F10 | c.1192A= (p.Ile398=) c.*183A= (n.*183A=) c.1060A= (p.Ile354=) | |
13 | g.113149242A>C | CA388793575 | F10 | c.1192A>C (p.Ile398Leu) c.*183A>C (n.*183A>C) c.1060A>C (p.Ile354Leu) | |
13 | g.113149242A>G | CA388793576 | F10 | c.1192A>G (p.Ile398Val) c.*183A>G (n.*183A>G) c.1060A>G (p.Ile354Val) | dbSNP |
13 | g.113149242A>T | CA388793578 | F10 | c.1192A>T (p.Ile398Phe) c.*183A>T (n.*183A>T) c.1060A>T (p.Ile354Phe) | |
13 | g.113149243T>A | CA388793584 | F10 | c.1193T>A (p.Ile398Asn) c.*184T>A (n.*184T>A) c.1061T>A (p.Ile354Asn) | |
13 | g.113149243T>C | CA388793583 | F10 | c.1193T>C (p.Ile398Thr) c.*184T>C (n.*184T>C) c.1061T>C (p.Ile354Thr) | gnomAD v4 |
13 | g.113149243T>G | CA388793580 | F10 | c.1193T>G (p.Ile398Ser) c.*184T>G (n.*184T>G) c.1061T>G (p.Ile354Ser) | |
13 | g.113149244C>A | CA485424336 | F10 | c.1194C>A (p.Ile398=) c.*185C>A (n.*185C>A) c.1062C>A (p.Ile354=) | |
13 | g.113149244C>G | CA388793587 | F10 | c.1194C>G (p.Ile398Met) c.*185C>G (n.*185C>G) c.1062C>G (p.Ile354Met) | |
13 | g.113149244C>T | CA485424338 | F10 | c.1194C>T (p.Ile398=) c.*185C>T (n.*185C>T) c.1062C>T (p.Ile354=) | gnomAD v4 |
13 | g.113149245A>C | CA388793591 | F10 | c.1195A>C (p.Thr399Pro) c.*186A>C (n.*186A>C) c.1063A>C (p.Thr355Pro) | |
13 | g.113149245A>G | CA388793593 | F10 | c.1195A>G (p.Thr399Ala) c.*186A>G (n.*186A>G) c.1063A>G (p.Thr355Ala) | |
13 | g.113149245A>T | CA388793595 | F10 | c.1195A>T (p.Thr399Ser) c.*186A>T (n.*186A>T) c.1063A>T (p.Thr355Ser) | |
13 | g.113149246C>A | CA388793599 | F10 | c.1196C>A (p.Thr399Asn) c.*187C>A (n.*187C>A) c.1064C>A (p.Thr355Asn) | |
13 | g.113149246C= | CA2120140341 | F10 | c.1196C= (p.Thr399=) c.*187C= (n.*187C=) c.1064C= (p.Thr355=) | |
13 | g.113149246C>G | CA388793600 | F10 | c.1196C>G (p.Thr399Ser) c.*187C>G (n.*187C>G) c.1064C>G (p.Thr355Ser) | |
13 | g.113149246C>T | CA388793601 | F10 | c.1196C>T (p.Thr399Ile) c.*187C>T (n.*187C>T) c.1064C>T (p.Thr355Ile) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149247C>A | CA485424353 | F10 | c.1197C>A (p.Thr399=) c.*188C>A (n.*188C>A) c.1065C>A (p.Thr355=) | |
13 | g.113149247C>G | CA485424356 | F10 | c.1197C>G (p.Thr399=) c.*188C>G (n.*188C>G) c.1065C>G (p.Thr355=) | |
13 | g.113149247C>T | CA485424358 | F10 | c.1197C>T (p.Thr399=) c.*188C>T (n.*188C>T) c.1065C>T (p.Thr355=) | COSMIC |
13 | g.113149248C>A | CA388793603 | F10 | c.1198C>A (p.Gln400Lys) c.*189C>A (n.*189C>A) c.1066C>A (p.Gln356Lys) | |
13 | g.113149248C>G | CA388793605 | F10 | c.1198C>G (p.Gln400Glu) c.*189C>G (n.*189C>G) c.1066C>G (p.Gln356Glu) | |
13 | g.113149248C>T | CA388793608 | F10 | c.1198C>T (p.Gln400Ter) c.*189C>T (n.*189C>T) c.1066C>T (p.Gln356Ter) | |
13 | g.113149249A= | CA2120140342 | F10 | c.1199A= (p.Gln400=) c.*190A= (n.*190A=) c.1067A= (p.Gln356=) | |
13 | g.113149249A>C | CA388793611 | F10 | c.1199A>C (p.Gln400Pro) c.*190A>C (n.*190A>C) c.1067A>C (p.Gln356Pro) | dbSNP |
13 | g.113149249A>G | CA388793612 | F10 | c.1199A>G (p.Gln400Arg) c.*190A>G (n.*190A>G) c.1067A>G (p.Gln356Arg) | |
13 | g.113149249A>T | CA388793615 | F10 | c.1199A>T (p.Gln400Leu) c.*190A>T (n.*190A>T) c.1067A>T (p.Gln356Leu) | |
13 | g.113149249_113149250insC | CA2800665322 | F10 | c.1199_1200insC (p.Gln400HisfsTer?) c.*190_*191insC (n.*190_*191insC) c.1067_1068insC (p.Gln356HisfsTer?) | |
13 | g.113149250G>A | CA7060701 | F10 | c.1200G>A (p.Gln400=) c.*191G>A (n.*191G>A) c.1068G>A (p.Gln356=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149250G>C | CA388793622 | F10 | c.1200G>C (p.Gln400His) c.*191G>C (n.*191G>C) c.1068G>C (p.Gln356His) | gnomAD v4 |
13 | g.113149250G= | CA2120140344 | F10 | c.1200G= (p.Gln400=) c.*191G= (n.*191G=) c.1068G= (p.Gln356=) | |
13 | g.113149250G>T | CA388793618 | F10 | c.1200G>T (p.Gln400His) c.*191G>T (n.*191G>T) c.1068G>T (p.Gln356His) | |
13 | g.113149251A>C | CA388793623 | F10 | c.1201A>C (p.Asn401His) c.*192A>C (n.*192A>C) c.1069A>C (p.Asn357His) | |
13 | g.113149251A>G | CA388793627 | F10 | c.1201A>G (p.Asn401Asp) c.*192A>G (n.*192A>G) c.1069A>G (p.Asn357Asp) | |
13 | g.113149251A>T | CA388793624 | F10 | c.1201A>T (p.Asn401Tyr) c.*192A>T (n.*192A>T) c.1069A>T (p.Asn357Tyr) | |
13 | g.113149252A>C | CA388793629 | F10 | c.1202A>C (p.Asn401Thr) c.*193A>C (n.*193A>C) c.1070A>C (p.Asn357Thr) | |
13 | g.113149252A>G | CA388793633 | F10 | c.1202A>G (p.Asn401Ser) c.*193A>G (n.*193A>G) c.1070A>G (p.Asn357Ser) | |
13 | g.113149252A>T | CA388793631 | F10 | c.1202A>T (p.Asn401Ile) c.*193A>T (n.*193A>T) c.1070A>T (p.Asn357Ile) | |
13 | g.113149252_113149253insACACACCCAACA | CA2800665324 | F10 | c.1202_1203insACACACCCAACA (p.Asn401delinsLysHisThrGlnHis) c.*193_*194insACACACCCAACA (n.*193_*194insACACACCCAACA) c.1070_1071insACACACCCAACA (p.Asn357delinsLysHisThrGlnHis) | |
13 | g.113149253C>A | CA388793635 | F10 | c.1203C>A (p.Asn401Lys) c.*194C>A (n.*194C>A) c.1071C>A (p.Asn357Lys) | |
13 | g.113149253C= | CA2120140347 | F10 | c.1203C= (p.Asn401=) c.*194C= (n.*194C=) c.1071C= (p.Asn357=) | |
13 | g.113149253C>G | CA388793637 | F10 | c.1203C>G (p.Asn401Lys) c.*194C>G (n.*194C>G) c.1071C>G (p.Asn357Lys) | |
13 | g.113149253C>T | CA256478716 | F10 | c.1203C>T (p.Asn401=) c.*194C>T (n.*194C>T) c.1071C>T (p.Asn357=) | dbSNP gnomAD v4 |
13 | g.113149254A= | CA2120140349 | F10 | c.1204A= (p.Met402=) c.*195A= (n.*195A=) c.1072A= (p.Met358=) | |
13 | g.113149254A>C | CA388793639 | F10 | c.1204A>C (p.Met402Leu) c.*195A>C (n.*195A>C) c.1072A>C (p.Met358Leu) | |
13 | g.113149254A>G | CA7060702 | F10 | c.1204A>G (p.Met402Val) c.*195A>G (n.*195A>G) c.1072A>G (p.Met358Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149254A>T | CA388793642 | F10 | c.1204A>T (p.Met402Leu) c.*195A>T (n.*195A>T) c.1072A>T (p.Met358Leu) | |
13 | g.113149255T>A | CA388793645 | F10 | c.1205T>A (p.Met402Lys) c.*196T>A (n.*196T>A) c.1073T>A (p.Met358Lys) | |
13 | g.113149255T>C | CA388793647 | F10 | c.1205T>C (p.Met402Thr) c.*196T>C (n.*196T>C) c.1073T>C (p.Met358Thr) | |
13 | g.113149255T>G | CA388793650 | F10 | c.1205T>G (p.Met402Arg) c.*196T>G (n.*196T>G) c.1073T>G (p.Met358Arg) | |
13 | g.113149256G>A | CA388793654 | F10 | c.1206G>A (p.Met402Ile) c.*197G>A (n.*197G>A) c.1074G>A (p.Met358Ile) | COSMIC |
13 | g.113149256G>C | CA388793657 | F10 | c.1206G>C (p.Met402Ile) c.*197G>C (n.*197G>C) c.1074G>C (p.Met358Ile) | |
13 | g.113149256G>T | CA388793659 | F10 | c.1206G>T (p.Met402Ile) c.*197G>T (n.*197G>T) c.1074G>T (p.Met358Ile) | |
13 | g.113149257T>A | CA388793664 | F10 | c.1207T>A (p.Phe403Ile) c.*198T>A (n.*198T>A) c.1075T>A (p.Phe359Ile) | |
13 | g.113149257T>C | CA388793667 | F10 | c.1207T>C (p.Phe403Leu) c.*198T>C (n.*198T>C) c.1075T>C (p.Phe359Leu) | |
13 | g.113149257T>G | CA388793665 | F10 | c.1207T>G (p.Phe403Val) c.*198T>G (n.*198T>G) c.1075T>G (p.Phe359Val) | |
13 | g.113149258T>A | CA388793670 | F10 | c.1208T>A (p.Phe403Tyr) c.*199T>A (n.*199T>A) c.1076T>A (p.Phe359Tyr) | |
13 | g.113149258T>C | CA388793673 | F10 | c.1208T>C (p.Phe403Ser) c.*199T>C (n.*199T>C) c.1076T>C (p.Phe359Ser) | |
13 | g.113149258T>G | CA388793675 | F10 | c.1208T>G (p.Phe403Cys) c.*199T>G (n.*199T>G) c.1076T>G (p.Phe359Cys) | |
13 | g.113149259C>A | CA388793678 | F10 | c.1209C>A (p.Phe403Leu) c.*200C>A (n.*200C>A) c.1077C>A (p.Phe359Leu) | |
13 | g.113149259C= | CA2120140351 | F10 | c.1209C= (p.Phe403=) c.*200C= (n.*200C=) c.1077C= (p.Phe359=) | |
13 | g.113149259C>G | CA388793679 | F10 | c.1209C>G (p.Phe403Leu) c.*200C>G (n.*200C>G) c.1077C>G (p.Phe359Leu) | |
13 | g.113149259C>T | CA7060703 | F10 | c.1209C>T (p.Phe403=) c.*200C>T (n.*200C>T) c.1077C>T (p.Phe359=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149260T>A | CA388793683 | F10 | c.1210T>A (p.Cys404Ser) c.*201T>A (n.*201T>A) c.1078T>A (p.Cys360Ser) | |
13 | g.113149260T>C | CA388793686 | F10 | c.1210T>C (p.Cys404Arg) c.*201T>C (n.*201T>C) c.1078T>C (p.Cys360Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.113149260T>G | CA388793689 | F10 | c.1210T>G (p.Cys404Gly) c.*201T>G (n.*201T>G) c.1078T>G (p.Cys360Gly) | |
13 | g.113149260T= | CA2120140354 | F10 | c.1210T= (p.Cys404=) c.*201T= (n.*201T=) c.1078T= (p.Cys360=) | |
13 | g.113149261G>A | CA388793694 | F10 | c.1211G>A (p.Cys404Tyr) c.*202G>A (n.*202G>A) c.1079G>A (p.Cys360Tyr) | |
13 | g.113149261G>C | CA388793697 | F10 | c.1211G>C (p.Cys404Ser) c.*202G>C (n.*202G>C) c.1079G>C (p.Cys360Ser) | |
13 | g.113149261G= | CA2120140359 | F10 | c.1211G= (p.Cys404=) c.*202G= (n.*202G=) c.1079G= (p.Cys360=) | |
13 | g.113149261G>T | CA388793691 | F10 | c.1211G>T (p.Cys404Phe) c.*202G>T (n.*202G>T) c.1079G>T (p.Cys360Phe) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149262T>A | CA388793700 | F10 | c.1212T>A (p.Cys404Ter) c.*203T>A (n.*203T>A) c.1080T>A (p.Cys360Ter) | |
13 | g.113149262T>C | CA485424085 | F10 | c.1212T>C (p.Cys404=) c.*203T>C (n.*203T>C) c.1080T>C (p.Cys360=) | |
13 | g.113149262T>G | CA388793701 | F10 | c.1212T>G (p.Cys404Trp) c.*203T>G (n.*203T>G) c.1080T>G (p.Cys360Trp) | |
13 | g.113149263G>A | CA388793705 | F10 | c.1213G>A (p.Ala405Thr) c.*204G>A (n.*204G>A) c.1081G>A (p.Ala361Thr) | gnomAD v4 |
13 | g.113149263G>C | CA388793707 | F10 | c.1213G>C (p.Ala405Pro) c.*204G>C (n.*204G>C) c.1081G>C (p.Ala361Pro) | |
13 | g.113149263G>T | CA388793710 | F10 | c.1213G>T (p.Ala405Ser) c.*204G>T (n.*204G>T) c.1081G>T (p.Ala361Ser) | |
13 | g.113149264C>A | CA388793712 | F10 | c.1214C>A (p.Ala405Asp) c.*205C>A (n.*205C>A) c.1082C>A (p.Ala361Asp) | |
13 | g.113149264C>G | CA388793715 | F10 | c.1214C>G (p.Ala405Gly) c.*205C>G (n.*205C>G) c.1082C>G (p.Ala361Gly) | |
13 | g.113149264C>T | CA388793718 | F10 | c.1214C>T (p.Ala405Val) c.*205C>T (n.*205C>T) c.1082C>T (p.Ala361Val) | |
13 | g.113149265C>A | CA485424087 | F10 | c.1215C>A (p.Ala405=) c.*206C>A (n.*206C>A) c.1083C>A (p.Ala361=) | |
13 | g.113149265C= | CA2120140363 | F10 | c.1215C= (p.Ala405=) c.*206C= (n.*206C=) c.1083C= (p.Ala361=) | |
13 | g.113149265C>G | CA485424086 | F10 | c.1215C>G (p.Ala405=) c.*206C>G (n.*206C>G) c.1083C>G (p.Ala361=) | dbSNP |
13 | g.113149265C>T | CA7060704 | F10 | c.1215C>T (p.Ala405=) c.*206C>T (n.*206C>T) c.1083C>T (p.Ala361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149266G>A | CA7060705 | F10 | c.1216G>A (p.Gly406Ser) c.*207G>A (n.*207G>A) c.1084G>A (p.Gly362Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149266G>C | CA256478720 | F10 | c.1216G>C (p.Gly406Arg) c.*207G>C (n.*207G>C) c.1084G>C (p.Gly362Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149266G= | CA2120140367 | F10 | c.1216G= (p.Gly406=) c.*207G= (n.*207G=) c.1084G= (p.Gly362=) | |
13 | g.113149266G>T | CA388793723 | F10 | c.1216G>T (p.Gly406Cys) c.*207G>T (n.*207G>T) c.1084G>T (p.Gly362Cys) | gnomAD v4 |
13 | g.113149267G>A | CA388793731 | F10 | c.1217G>A (p.Gly406Asp) c.*208G>A (n.*208G>A) c.1085G>A (p.Gly362Asp) | |
13 | g.113149267G>C | CA388793726 | F10 | c.1217G>C (p.Gly406Ala) c.*208G>C (n.*208G>C) c.1085G>C (p.Gly362Ala) | |
13 | g.113149267G>T | CA388793728 | F10 | c.1217G>T (p.Gly406Val) c.*208G>T (n.*208G>T) c.1085G>T (p.Gly362Val) | |
13 | g.113149268C>A | CA485424088 | F10 | c.1218C>A (p.Gly406=) c.*209C>A (n.*209C>A) c.1086C>A (p.Gly362=) | |
13 | g.113149268C>G | CA485424089 | F10 | c.1218C>G (p.Gly406=) c.*209C>G (n.*209C>G) c.1086C>G (p.Gly362=) | |
13 | g.113149268C>T | CA485424090 | F10 | c.1218C>T (p.Gly406=) c.*209C>T (n.*209C>T) c.1086C>T (p.Gly362=) | |
13 | g.113149269T>A | CA388793733 | F10 | c.1219T>A (p.Tyr407Asn) c.*210T>A (n.*210T>A) c.1087T>A (p.Tyr363Asn) | |
13 | g.113149269T>C | CA388793734 | F10 | c.1219T>C (p.Tyr407His) c.*210T>C (n.*210T>C) c.1087T>C (p.Tyr363His) | |
13 | g.113149269T>G | CA388793738 | F10 | c.1219T>G (p.Tyr407Asp) c.*210T>G (n.*210T>G) c.1087T>G (p.Tyr363Asp) | |
13 | g.113149270A>C | CA388793741 | F10 | c.1220A>C (p.Tyr407Ser) c.*211A>C (n.*211A>C) c.1088A>C (p.Tyr363Ser) | |
13 | g.113149270A>G | CA388793744 | F10 | c.1220A>G (p.Tyr407Cys) c.*211A>G (n.*211A>G) c.1088A>G (p.Tyr363Cys) | |
13 | g.113149270A>T | CA388793745 | F10 | c.1220A>T (p.Tyr407Phe) c.*211A>T (n.*211A>T) c.1088A>T (p.Tyr363Phe) | |
13 | g.113149272_113149274del | CA915940388 | F10 | c.1222_1224del (p.Asp408del) c.*213_*215del (n.*213_*215del) c.1090_1092del (p.Asp364del) | |
13 | g.113149271C>A | CA388793748 | F10 | c.1221C>A (p.Tyr407Ter) c.*212C>A (n.*212C>A) c.1089C>A (p.Tyr363Ter) | |
13 | g.113149271C= | CA2120140370 | F10 | c.1221C= (p.Tyr407=) c.*212C= (n.*212C=) c.1089C= (p.Tyr363=) | |
13 | g.113149271C>G | CA388793750 | F10 | c.1221C>G (p.Tyr407Ter) c.*212C>G (n.*212C>G) c.1089C>G (p.Tyr363Ter) | |
13 | g.113149271C>T | CA7060706 | F10 | c.1221C>T (p.Tyr407=) c.*212C>T (n.*212C>T) c.1089C>T (p.Tyr363=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149272G>A | CA7060707 | F10 | c.1222G>A (p.Asp408Asn) c.*213G>A (n.*213G>A) c.1090G>A (p.Asp364Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149272G>C | CA388793757 | F10 | c.1222G>C (p.Asp408His) c.*213G>C (n.*213G>C) c.1090G>C (p.Asp364His) | gnomAD v4 |
13 | g.113149272G= | CA2120140375 | F10 | c.1222G= (p.Asp408=) c.*213G= (n.*213G=) c.1090G= (p.Asp364=) | |
13 | g.113149272G>T | CA388793760 | F10 | c.1222G>T (p.Asp408Tyr) c.*213G>T (n.*213G>T) c.1090G>T (p.Asp364Tyr) | |
13 | g.113149273A= | CA2120140381 | F10 | c.1223A= (p.Asp408=) c.*214A= (n.*214A=) c.1091A= (p.Asp364=) | |
13 | g.113149273A>C | CA388793764 | F10 | c.1223A>C (p.Asp408Ala) c.*214A>C (n.*214A>C) c.1091A>C (p.Asp364Ala) | |
13 | g.113149273A>G | CA388793765 | F10 | c.1223A>G (p.Asp408Gly) c.*214A>G (n.*214A>G) c.1091A>G (p.Asp364Gly) | |
13 | g.113149273A>T | CA388793762 | F10 | c.1223A>T (p.Asp408Val) c.*214A>T (n.*214A>T) c.1091A>T (p.Asp364Val) | dbSNP gnomAD v4 |
13 | g.113149274C>A | CA388793771 | F10 | c.1224C>A (p.Asp408Glu) c.*215C>A (n.*215C>A) c.1092C>A (p.Asp364Glu) | |
13 | g.113149274C= | CA2120140384 | F10 | c.1224C= (p.Asp408=) c.*215C= (n.*215C=) c.1092C= (p.Asp364=) | |
13 | g.113149274C>G | CA388793768 | F10 | c.1224C>G (p.Asp408Glu) c.*215C>G (n.*215C>G) c.1092C>G (p.Asp364Glu) | dbSNP |
13 | g.113149274C>T | CA485424091 | F10 | c.1224C>T (p.Asp408=) c.*215C>T (n.*215C>T) c.1092C>T (p.Asp364=) | |
13 | g.113149275A= | CA2120140387 | F10 | c.1225A= (p.Thr409=) c.*216A= (n.*216A=) c.1093A= (p.Thr365=) | |
13 | g.113149275A>C | CA388793775 | F10 | c.1225A>C (p.Thr409Pro) c.*216A>C (n.*216A>C) c.1093A>C (p.Thr365Pro) | |
13 | g.113149275A>G | CA388793776 | F10 | c.1225A>G (p.Thr409Ala) c.*216A>G (n.*216A>G) c.1093A>G (p.Thr365Ala) | dbSNP |
13 | g.113149275A>T | CA388793779 | F10 | c.1225A>T (p.Thr409Ser) c.*216A>T (n.*216A>T) c.1093A>T (p.Thr365Ser) | |
13 | g.113149276C>A | CA388793781 | F10 | c.1226C>A (p.Thr409Asn) c.*217C>A (n.*217C>A) c.1094C>A (p.Thr365Asn) | |
13 | g.113149276C= | CA2120140391 | F10 | c.1226C= (p.Thr409=) c.*217C= (n.*217C=) c.1094C= (p.Thr365=) | |
13 | g.113149276C>G | CA388793784 | F10 | c.1226C>G (p.Thr409Ser) c.*217C>G (n.*217C>G) c.1094C>G (p.Thr365Ser) | |
13 | g.113149276C>T | CA7060708 | F10 | c.1226C>T (p.Thr409Ile) c.*217C>T (n.*217C>T) c.1094C>T (p.Thr365Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149277C>A | CA7060709 | F10 | c.1227C>A (p.Thr409=) c.*218C>A (n.*218C>A) c.1095C>A (p.Thr365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149277C= | CA2120140396 | F10 | c.1227C= (p.Thr409=) c.*218C= (n.*218C=) c.1095C= (p.Thr365=) | |
13 | g.113149277C>G | CA485424093 | F10 | c.1227C>G (p.Thr409=) c.*218C>G (n.*218C>G) c.1095C>G (p.Thr365=) | |
13 | g.113149277C>T | CA485424092 | F10 | c.1227C>T (p.Thr409=) c.*218C>T (n.*218C>T) c.1095C>T (p.Thr365=) | |
13 | g.113149278A= | CA2120140399 | F10 | c.1228A= (p.Lys410=) c.*219A= (n.*219A=) c.1096A= (p.Lys366=) | |
13 | g.113149278A>C | CA388793789 | F10 | c.1228A>C (p.Lys410Gln) c.*219A>C (n.*219A>C) c.1096A>C (p.Lys366Gln) | ClinVar |
13 | g.113149278A>G | CA388793792 | F10 | c.1228A>G (p.Lys410Glu) c.*219A>G (n.*219A>G) c.1096A>G (p.Lys366Glu) | |
13 | g.113149278A>T | CA388793794 | F10 | c.1228A>T (p.Lys410Ter) c.*219A>T (n.*219A>T) c.1096A>T (p.Lys366Ter) | dbSNP gnomAD v4 |
13 | g.113149279A>C | CA388793798 | F10 | c.1229A>C (p.Lys410Thr) c.*220A>C (n.*220A>C) c.1097A>C (p.Lys366Thr) | |
13 | g.113149279A>G | CA388793800 | F10 | c.1229A>G (p.Lys410Arg) c.*220A>G (n.*220A>G) c.1097A>G (p.Lys366Arg) | |
13 | g.113149279A>T | CA388793801 | F10 | c.1229A>T (p.Lys410Met) c.*220A>T (n.*220A>T) c.1097A>T (p.Lys366Met) | |
13 | g.113149279_113149280insACACACCCAAC | CA2800665343 | F10 | c.1229_1230insACACACCCAAC (p.Gln411HisfsTer27) c.*220_*221insACACACCCAAC (n.*220_*221insACACACCCAAC) c.1097_1098insACACACCCAAC (p.Gln367HisfsTer27) | |
13 | g.113149280G>A | CA485424094 | F10 | c.1230G>A (p.Lys410=) c.*221G>A (n.*221G>A) c.1098G>A (p.Lys366=) | |
13 | g.113149280G>C | CA388793805 | F10 | c.1230G>C (p.Lys410Asn) c.*221G>C (n.*221G>C) c.1098G>C (p.Lys366Asn) | |
13 | g.113149280G>T | CA388793807 | F10 | c.1230G>T (p.Lys410Asn) c.*221G>T (n.*221G>T) c.1098G>T (p.Lys366Asn) | |
13 | g.113149281_113149284dup | CA2575514505 | F10 | c.1231_1234dup (p.Glu412AlafsTer?) c.*222_*225dup (n.*222_*225dup) c.1099_1102dup (p.Glu368AlafsTer?) |