SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.113149342_113149345del | CA2830665552 | F10 | c.1292_1295del (p.Tyr431SerfsTer2) c.*283_*286del (n.*283_*286del) c.1160_1163del (p.Tyr387SerfsTer2) | |
| 13 | g.113149343_113149344delinsCT | CA2120140512 | F10 | c.1293_1294delinsCT (p.Tyr431=) c.*284_*285delinsCT (n.*284_*285delinsCT) c.1161_1162delinsCT (p.Tyr387=) | |
| 13 | g.113149344T>A | CA388794138 | F10 | c.1294T>A (p.Phe432Ile) c.*285T>A (n.*285T>A) c.1162T>A (p.Phe388Ile) | |
| 13 | g.113149344T>C | CA388794139 | F10 | c.1294T>C (p.Phe432Leu) c.*285T>C (n.*285T>C) c.1162T>C (p.Phe388Leu) | |
| 13 | g.113149344T>G | CA388794141 | F10 | c.1294T>G (p.Phe432Val) c.*285T>G (n.*285T>G) c.1162T>G (p.Phe388Val) | |
| 13 | g.113149345del | CA2120140517 | F10 | c.1295del (p.Phe432SerfsTer2) c.*286del (n.*286del) c.1163del (p.Phe388SerfsTer2) | dbSNP |
| 13 | g.113149345T>A | CA388794145 | F10 | c.1295T>A (p.Phe432Tyr) c.*286T>A (n.*286T>A) c.1163T>A (p.Phe388Tyr) | |
| 13 | g.113149345T>C | CA388794144 | F10 | c.1295T>C (p.Phe432Ser) c.*286T>C (n.*286T>C) c.1163T>C (p.Phe388Ser) | |
| 13 | g.113149345T>G | CA388794143 | F10 | c.1295T>G (p.Phe432Cys) c.*286T>G (n.*286T>G) c.1163T>G (p.Phe388Cys) | |
| 13 | g.113149346C>A | CA388794147 | F10 | c.1296C>A (p.Phe432Leu) c.*287C>A (n.*287C>A) c.1164C>A (p.Phe388Leu) | |
| 13 | g.113149346C= | CA2120140525 | F10 | c.1296C= (p.Phe432=) c.*287C= (n.*287C=) c.1164C= (p.Phe388=) | |
| 13 | g.113149346C>G | CA7060724 | F10 | c.1296C>G (p.Phe432Leu) c.*287C>G (n.*287C>G) c.1164C>G (p.Phe388Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149346C>T | CA7060723 | F10 | c.1296C>T (p.Phe432=) c.*287C>T (n.*287C>T) c.1164C>T (p.Phe388=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149347G>A | CA7060725 | F10 | c.1297G>A (p.Val433Met) c.*288G>A (n.*288G>A) c.1165G>A (p.Val389Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113149347G>C | CA388794150 | F10 | c.1297G>C (p.Val433Leu) c.*288G>C (n.*288G>C) c.1165G>C (p.Val389Leu) | |
| 13 | g.113149347G= | CA2120140528 | F10 | c.1297G= (p.Val433=) c.*288G= (n.*288G=) c.1165G= (p.Val389=) | |
| 13 | g.113149347G>T | CA388794152 | F10 | c.1297G>T (p.Val433Leu) c.*288G>T (n.*288G>T) c.1165G>T (p.Val389Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149348T>A | CA388794157 | F10 | c.1298T>A (p.Val433Glu) c.*289T>A (n.*289T>A) c.1166T>A (p.Val389Glu) | |
| 13 | g.113149348T>C | CA388794155 | F10 | c.1298T>C (p.Val433Ala) c.*289T>C (n.*289T>C) c.1166T>C (p.Val389Ala) | gnomAD v4 |
| 13 | g.113149348T>G | CA388794154 | F10 | c.1298T>G (p.Val433Gly) c.*289T>G (n.*289T>G) c.1166T>G (p.Val389Gly) | |
| 13 | g.113149349G>A | CA485424162 | F10 | c.1299G>A (p.Val433=) c.*290G>A (n.*290G>A) c.1167G>A (p.Val389=) | |
| 13 | g.113149349G>C | CA485424163 | F10 | c.1299G>C (p.Val433=) c.*290G>C (n.*290G>C) c.1167G>C (p.Val389=) | |
| 13 | g.113149349G>T | CA485424164 | F10 | c.1299G>T (p.Val433=) c.*290G>T (n.*290G>T) c.1167G>T (p.Val389=) | |
| 13 | g.113149350A>C | CA388794158 | F10 | c.1300A>C (p.Thr434Pro) c.*291A>C (n.*291A>C) c.1168A>C (p.Thr390Pro) | |
| 13 | g.113149350A>G | CA388794162 | F10 | c.1300A>G (p.Thr434Ala) c.*291A>G (n.*291A>G) c.1168A>G (p.Thr390Ala) | |
| 13 | g.113149350A>T | CA388794160 | F10 | c.1300A>T (p.Thr434Ser) c.*291A>T (n.*291A>T) c.1168A>T (p.Thr390Ser) | |
| 13 | g.113149351C>A | CA388794164 | F10 | c.1301C>A (p.Thr434Lys) c.*292C>A (n.*292C>A) c.1169C>A (p.Thr390Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149351C= | CA2120140531 | F10 | c.1301C= (p.Thr434=) c.*292C= (n.*292C=) c.1169C= (p.Thr390=) | |
| 13 | g.113149351C>G | CA388794167 | F10 | c.1301C>G (p.Thr434Arg) c.*292C>G (n.*292C>G) c.1169C>G (p.Thr390Arg) | |
| 13 | g.113149351C>T | CA388794166 | F10 | c.1301C>T (p.Thr434Ile) c.*292C>T (n.*292C>T) c.1169C>T (p.Thr390Ile) | |
| 13 | g.113149352A>C | CA485424166 | F10 | c.1302A>C (p.Thr434=) c.*293A>C (n.*293A>C) c.1170A>C (p.Thr390=) | |
| 13 | g.113149352A>G | CA485424167 | F10 | c.1302A>G (p.Thr434=) c.*293A>G (n.*293A>G) c.1170A>G (p.Thr390=) | |
| 13 | g.113149352A>T | CA485424168 | F10 | c.1302A>T (p.Thr434=) c.*293A>T (n.*293A>T) c.1170A>T (p.Thr390=) | |
| 13 | g.113149353G>A | CA388794169 | F10 | c.1303G>A (p.Gly435Ser) c.*294G>A (n.*294G>A) c.1171G>A (p.Gly391Ser) | |
| 13 | g.113149353G>C | CA388794171 | F10 | c.1303G>C (p.Gly435Arg) c.*294G>C (n.*294G>C) c.1171G>C (p.Gly391Arg) | |
| 13 | g.113149353G>T | CA388794172 | F10 | c.1303G>T (p.Gly435Cys) c.*294G>T (n.*294G>T) c.1171G>T (p.Gly391Cys) | |
| 13 | g.113149354G>A | CA388794174 | F10 | c.1304G>A (p.Gly435Asp) c.*295G>A (n.*295G>A) c.1172G>A (p.Gly391Asp) | |
| 13 | g.113149354G>C | CA388794176 | F10 | c.1304G>C (p.Gly435Ala) c.*295G>C (n.*295G>C) c.1172G>C (p.Gly391Ala) | |
| 13 | g.113149354G>T | CA388794178 | F10 | c.1304G>T (p.Gly435Val) c.*295G>T (n.*295G>T) c.1172G>T (p.Gly391Val) | |
| 13 | g.113149355C>A | CA485424170 | F10 | c.1305C>A (p.Gly435=) c.*296C>A (n.*296C>A) c.1173C>A (p.Gly391=) | |
| 13 | g.113149355C= | CA2120140532 | F10 | c.1305C= (p.Gly435=) c.*296C= (n.*296C=) c.1173C= (p.Gly391=) | |
| 13 | g.113149355C>G | CA485424171 | F10 | c.1305C>G (p.Gly435=) c.*296C>G (n.*296C>G) c.1173C>G (p.Gly391=) | gnomAD v4 |
| 13 | g.113149355C>T | CA7060726 | F10 | c.1305C>T (p.Gly435=) c.*296C>T (n.*296C>T) c.1173C>T (p.Gly391=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113149356A>C | CA388794181 | F10 | c.1306A>C (p.Ile436Leu) c.*297A>C (n.*297A>C) c.1174A>C (p.Ile392Leu) | gnomAD v4 |
| 13 | g.113149356A>G | CA388794183 | F10 | c.1306A>G (p.Ile436Val) c.*297A>G (n.*297A>G) c.1174A>G (p.Ile392Val) | |
| 13 | g.113149356A>T | CA388794185 | F10 | c.1306A>T (p.Ile436Phe) c.*297A>T (n.*297A>T) c.1174A>T (p.Ile392Phe) | |
| 13 | g.113149357T>A | CA388794190 | F10 | c.1307T>A (p.Ile436Asn) c.*298T>A (n.*298T>A) c.1175T>A (p.Ile392Asn) | |
| 13 | g.113149357T>C | CA388794188 | F10 | c.1307T>C (p.Ile436Thr) c.*298T>C (n.*298T>C) c.1175T>C (p.Ile392Thr) | |
| 13 | g.113149357T>G | CA388794187 | F10 | c.1307T>G (p.Ile436Ser) c.*298T>G (n.*298T>G) c.1175T>G (p.Ile392Ser) | |
| 13 | g.113149358C>A | CA485424175 | F10 | c.1308C>A (p.Ile436=) c.*299C>A (n.*299C>A) c.1176C>A (p.Ile392=) | |
| 13 | g.113149358C= | CA2120140536 | F10 | c.1308C= (p.Ile436=) c.*299C= (n.*299C=) c.1176C= (p.Ile392=) | |
| 13 | g.113149358C>G | CA388794192 | F10 | c.1308C>G (p.Ile436Met) c.*299C>G (n.*299C>G) c.1176C>G (p.Ile392Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149358C>T | CA7060727 | F10 | c.1308C>T (p.Ile436=) c.*299C>T (n.*299C>T) c.1176C>T (p.Ile392=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149359G>A | CA7060728 | F10 | c.1309G>A (p.Val437Ile) c.*300G>A (n.*300G>A) c.1177G>A (p.Val393Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149359G>C | CA388794195 | F10 | c.1309G>C (p.Val437Leu) c.*300G>C (n.*300G>C) c.1177G>C (p.Val393Leu) | COSMIC |
| 13 | g.113149359G= | CA2120140540 | F10 | c.1309G= (p.Val437=) c.*300G= (n.*300G=) c.1177G= (p.Val393=) | |
| 13 | g.113149359G>T | CA388794197 | F10 | c.1309G>T (p.Val437Phe) c.*300G>T (n.*300G>T) c.1177G>T (p.Val393Phe) | |
| 13 | g.113149360T>A | CA388794199 | F10 | c.1310T>A (p.Val437Asp) c.*301T>A (n.*301T>A) c.1178T>A (p.Val393Asp) | |
| 13 | g.113149360T>C | CA388794201 | F10 | c.1310T>C (p.Val437Ala) c.*301T>C (n.*301T>C) c.1178T>C (p.Val393Ala) | |
| 13 | g.113149360T>G | CA388794202 | F10 | c.1310T>G (p.Val437Gly) c.*301T>G (n.*301T>G) c.1178T>G (p.Val393Gly) | |
| 13 | g.113149361C>A | CA485424178 | F10 | c.1311C>A (p.Val437=) c.*302C>A (n.*302C>A) c.1179C>A (p.Val393=) | |
| 13 | g.113149361C>G | CA485424179 | F10 | c.1311C>G (p.Val437=) c.*302C>G (n.*302C>G) c.1179C>G (p.Val393=) | |
| 13 | g.113149361C>T | CA485424180 | F10 | c.1311C>T (p.Val437=) c.*302C>T (n.*302C>T) c.1179C>T (p.Val393=) | |
| 13 | g.113149362A>C | CA388794204 | F10 | c.1312A>C (p.Ser438Arg) c.*303A>C (n.*303A>C) c.1180A>C (p.Ser394Arg) | |
| 13 | g.113149362A>G | CA388794206 | F10 | c.1312A>G (p.Ser438Gly) c.*303A>G (n.*303A>G) c.1180A>G (p.Ser394Gly) | |
| 13 | g.113149362A>T | CA388794208 | F10 | c.1312A>T (p.Ser438Cys) c.*303A>T (n.*303A>T) c.1180A>T (p.Ser394Cys) | |
| 13 | g.113149362_113149363insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG | CA2623810135 | F10 | c.1312_1313insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (p.Ser438ThrfsTer41) c.*303_*304insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (n.*303_*304insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG) c.1180_1181insCAGCTTCATCATCACCCAGAACATGTTCTGTGCCG (p.Ser394ThrfsTer41) | gnomAD v4 |
| 13 | g.113149363G>A | CA388794212 | F10 | c.1313G>A (p.Ser438Asn) c.*304G>A (n.*304G>A) c.1181G>A (p.Ser394Asn) | |
| 13 | g.113149363G>C | CA388794213 | F10 | c.1313G>C (p.Ser438Thr) c.*304G>C (n.*304G>C) c.1181G>C (p.Ser394Thr) | |
| 13 | g.113149363G>T | CA388794211 | F10 | c.1313G>T (p.Ser438Ile) c.*304G>T (n.*304G>T) c.1181G>T (p.Ser394Ile) | |
| 13 | g.113149364C>A | CA388794216 | F10 | c.1314C>A (p.Ser438Arg) c.*305C>A (n.*305C>A) c.1182C>A (p.Ser394Arg) | |
| 13 | g.113149364C>G | CA388794218 | F10 | c.1314C>G (p.Ser438Arg) c.*305C>G (n.*305C>G) c.1182C>G (p.Ser394Arg) | |
| 13 | g.113149364C>T | CA485424184 | F10 | c.1314C>T (p.Ser438=) c.*305C>T (n.*305C>T) c.1182C>T (p.Ser394=) | |
| 13 | g.113149365T>A | CA388794219 | F10 | c.1315T>A (p.Trp439Arg) c.*306T>A (n.*306T>A) c.1183T>A (p.Trp395Arg) | |
| 13 | g.113149365T>C | CA388794221 | F10 | c.1315T>C (p.Trp439Arg) c.*306T>C (n.*306T>C) c.1183T>C (p.Trp395Arg) | |
| 13 | g.113149365T>G | CA388794223 | F10 | c.1315T>G (p.Trp439Gly) c.*306T>G (n.*306T>G) c.1183T>G (p.Trp395Gly) | |
| 13 | g.113149366G>A | CA388794225 | F10 | c.1316G>A (p.Trp439Ter) c.*307G>A (n.*307G>A) c.1184G>A (p.Trp395Ter) | |
| 13 | g.113149366G>C | CA388794226 | F10 | c.1316G>C (p.Trp439Ser) c.*307G>C (n.*307G>C) c.1184G>C (p.Trp395Ser) | |
| 13 | g.113149366G>T | CA388794227 | F10 | c.1316G>T (p.Trp439Leu) c.*307G>T (n.*307G>T) c.1184G>T (p.Trp395Leu) | |
| 13 | g.113149366_113149367insT | CA2623810140 | F10 | c.1316_1317insT (p.Trp439CysfsTer8) c.*307_*308insT (n.*307_*308insT) c.1184_1185insT (p.Trp395CysfsTer8) | gnomAD v4 |
| 13 | g.113149367G>A | CA388794228 | F10 | c.1317G>A (p.Trp439Ter) c.*308G>A (n.*308G>A) c.1185G>A (p.Trp395Ter) | |
| 13 | g.113149367G>C | CA388794229 | F10 | c.1317G>C (p.Trp439Cys) c.*308G>C (n.*308G>C) c.1185G>C (p.Trp395Cys) | |
| 13 | g.113149367G= | CA2120140545 | F10 | c.1317G= (p.Trp439=) c.*308G= (n.*308G=) c.1185G= (p.Trp395=) | |
| 13 | g.113149367G>T | CA388794230 | F10 | c.1317G>T (p.Trp439Cys) c.*308G>T (n.*308G>T) c.1185G>T (p.Trp395Cys) | |
| 13 | g.113149367_113149376del | CA2623810142 | F10 | c.1317_1326del (p.Trp439CysfsTer25) c.*308_*317del (n.*308_*317del) c.1185_1194del (p.Trp395CysfsTer25) | gnomAD v4 |
| 13 | g.113149367_113149368insTTTTTTTTTTTTAA | CA612868374 | F10 | c.1317_1318insTTTTTTTTTTTTAA (p.Gly440PhefsTer32) c.*308_*309insTTTTTTTTTTTTAA (n.*308_*309insTTTTTTTTTTTTAA) c.1185_1186insTTTTTTTTTTTTAA (p.Gly396PhefsTer32) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149368G>A | CA388794233 | F10 | c.1318G>A (p.Gly440Arg) c.*309G>A (n.*309G>A) c.1186G>A (p.Gly396Arg) | |
| 13 | g.113149368G>C | CA388794235 | F10 | c.1318G>C (p.Gly440Arg) c.*309G>C (n.*309G>C) c.1186G>C (p.Gly396Arg) | |
| 13 | g.113149368G= | CA2120140549 | F10 | c.1318G= (p.Gly440=) c.*309G= (n.*309G=) c.1186G= (p.Gly396=) | |
| 13 | g.113149368G>T | CA388794231 | F10 | c.1318G>T (p.Gly440Ter) c.*309G>T (n.*309G>T) c.1186G>T (p.Gly396Ter) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149368_113149376del | CA2800665256 | F10 | c.1318_1326del (p.Gly440_Gly442del) c.*309_*317del (n.*309_*317del) c.1186_1194del (p.Gly396_Gly398del) | |
| 13 | g.113149368_113149369insTTTTTTTTTTAAT | CA2623810168 | F10 | c.1318_1319insTTTTTTTTTTAAT (p.Gly440ValfsTer11) c.*309_*310insTTTTTTTTTTAAT (n.*309_*310insTTTTTTTTTTAAT) c.1186_1187insTTTTTTTTTTAAT (p.Gly396ValfsTer11) | gnomAD v4 |
| 13 | g.113149368_113149369insTATTTTTTTTTAAT | CA2800665263 | F10 | c.1318_1319insTATTTTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTATTTTTTTTTAAT (n.*309_*310insTATTTTTTTTTAAT) c.1186_1187insTATTTTTTTTTAAT (p.Gly396ValfsTer32) | |
| 13 | g.113149368_113149369insTTGTTTTTTTTAAT | CA2623810166 | F10 | c.1318_1319insTTGTTTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTTGTTTTTTTTAAT (n.*309_*310insTTGTTTTTTTTAAT) c.1186_1187insTTGTTTTTTTTAAT (p.Gly396ValfsTer32) | gnomAD v4 |
| 13 | g.113149368_113149369insTTTTGTTTTTTAAT | CA2800665265 | F10 | c.1318_1319insTTTTGTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTTTTGTTTTTTAAT (n.*309_*310insTTTTGTTTTTTAAT) c.1186_1187insTTTTGTTTTTTAAT (p.Gly396ValfsTer32) | |
| 13 | g.113149368_113149369insTTTTTTTTTTTAAT | CA612868376 | F10 | c.1318_1319insTTTTTTTTTTTAAT (p.Gly440ValfsTer32) c.*309_*310insTTTTTTTTTTTAAT (n.*309_*310insTTTTTTTTTTTAAT) c.1186_1187insTTTTTTTTTTTAAT (p.Gly396ValfsTer32) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113149368_113149369insTTTTTTTTTTTACT | CA2623810171 | F10 | c.1318_1319insTTTTTTTTTTTACT (p.Gly440ValfsTer32) c.*309_*310insTTTTTTTTTTTACT (n.*309_*310insTTTTTTTTTTTACT) c.1186_1187insTTTTTTTTTTTACT (p.Gly396ValfsTer32) | gnomAD v4 |
| 13 | g.113149369G>A | CA388794236 | F10 | c.1319G>A (p.Gly440Glu) c.*310G>A (n.*310G>A) c.1187G>A (p.Gly396Glu) | gnomAD v4 |
| 13 | g.113149369G>C | CA388794238 | F10 | c.1319G>C (p.Gly440Ala) c.*310G>C (n.*310G>C) c.1187G>C (p.Gly396Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113149369G= | CA2120140555 | F10 | c.1319G= (p.Gly440=) c.*310G= (n.*310G=) c.1187G= (p.Gly396=) | |
| 13 | g.113149369G>T | CA388794240 | F10 | c.1319G>T (p.Gly440Val) c.*310G>T (n.*310G>T) c.1187G>T (p.Gly396Val) | |
| 13 | g.113149369_113149370insTTTTTTTTTTAATG | CA612868375 | F10 | c.1319_1320insTTTTTTTTTTAATG (p.Glu441PhefsTer31) c.*310_*311insTTTTTTTTTTAATG (n.*310_*311insTTTTTTTTTTAATG) c.1187_1188insTTTTTTTTTTAATG (p.Glu397PhefsTer31) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149369_113149370insTTTTTTTTTTTAATG | CA2800665264 | F10 | c.1319_1320insTTTTTTTTTTTAATG (p.Gly441PhefsTer4) c.*310_*311insTTTTTTTTTTTAATG (n.*310_*311insTTTTTTTTTTTAATG) c.1187_1188insTTTTTTTTTTTAATG (p.Gly397PhefsTer4) | |
| 13 | g.113149369_113149370insTTTTTTTTTTAATC | CA2800665266 | F10 | c.1319_1320insTTTTTTTTTTAATC (p.Glu441PhefsTer31) c.*310_*311insTTTTTTTTTTAATC (n.*310_*311insTTTTTTTTTTAATC) c.1187_1188insTTTTTTTTTTAATC (p.Glu397PhefsTer31) | |
| 13 | g.113149370A>C | CA485424188 | F10 | c.1320A>C (p.Gly440=) c.*311A>C (n.*311A>C) c.1188A>C (p.Gly396=) | |
| 13 | g.113149370A>G | CA485424191 | F10 | c.1320A>G (p.Gly440=) c.*311A>G (n.*311A>G) c.1188A>G (p.Gly396=) | |
| 13 | g.113149370A>T | CA485424189 | F10 | c.1320A>T (p.Gly440=) c.*311A>T (n.*311A>T) c.1188A>T (p.Gly396=) | |
| 13 | g.113149370_113149376del | CA2623810182 | F10 | c.1320_1326del (p.Glu441ValfsTer24) c.*311_*317del (n.*311_*317del) c.1188_1194del (p.Glu397ValfsTer24) | gnomAD v4 |
| 13 | g.113149370_113149371insTTTTTTTTTAAT | CA2800665269 | F10 | c.1320_1321insTTTTTTTTTAAT (p.Gly440_Glu441insPhePhePheAsn) c.*311_*312insTTTTTTTTTAAT (n.*311_*312insTTTTTTTTTAAT) c.1188_1189insTTTTTTTTTAAT (p.Gly396_Glu397insPhePhePheAsn) | |
| 13 | g.113149371G>A | CA388794242 | F10 | c.1321G>A (p.Glu441Lys) c.*312G>A (n.*312G>A) c.1189G>A (p.Glu397Lys) | ClinVar dbSNP |
| 13 | g.113149371G>C | CA388794243 | F10 | c.1321G>C (p.Glu441Gln) c.*312G>C (n.*312G>C) c.1189G>C (p.Glu397Gln) | |
| 13 | g.113149371G= | CA2120140562 | F10 | c.1321G= (p.Glu441=) c.*312G= (n.*312G=) c.1189G= (p.Glu397=) | |
| 13 | g.113149371G>T | CA388794245 | F10 | c.1321G>T (p.Glu441Ter) c.*312G>T (n.*312G>T) c.1189G>T (p.Glu397Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149372A>C | CA388794247 | F10 | c.1322A>C (p.Glu441Ala) c.*313A>C (n.*313A>C) c.1190A>C (p.Glu397Ala) | |
| 13 | g.113149372A>G | CA388794251 | F10 | c.1322A>G (p.Glu441Gly) c.*313A>G (n.*313A>G) c.1190A>G (p.Glu397Gly) | |
| 13 | g.113149372A>T | CA388794249 | F10 | c.1322A>T (p.Glu441Val) c.*313A>T (n.*313A>T) c.1190A>T (p.Glu397Val) | |
| 13 | g.113149372_113149376delinsAGGGC | CA2120140568 | F10 | c.1322_1326delinsAGGGC (p.Glu441=) c.*313_*317delinsAGGGC (n.*313_*317delinsAGGGC) c.1190_1194delinsAGGGC (p.Glu397=) | |
| 13 | g.113149373G>A | CA485424195 | F10 | c.1323G>A (p.Glu441=) c.*314G>A (n.*314G>A) c.1191G>A (p.Glu397=) | dbSNP gnomAD v4 |
| 13 | g.113149373G>C | CA388794253 | F10 | c.1323G>C (p.Glu441Asp) c.*314G>C (n.*314G>C) c.1191G>C (p.Glu397Asp) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149373G= | CA2120140578 | F10 | c.1323G= (p.Glu441=) c.*314G= (n.*314G=) c.1191G= (p.Glu397=) | |
| 13 | g.113149373G>T | CA388794254 | F10 | c.1323G>T (p.Glu441Asp) c.*314G>T (n.*314G>T) c.1191G>T (p.Glu397Asp) | |
| 13 | g.113149373_113149375del | CA2800665271 | F10 | c.1323_1325del (p.Glu441_Gly442delinsAsp) c.*314_*316del (n.*314_*316del) c.1191_1193del (p.Glu397_Gly398delinsAsp) | |
| 13 | g.113149375del | CA2623810190 | F10 | c.1325del (p.Gly442AlafsTer25) c.*316del (n.*316del) c.1193del (p.Gly398AlafsTer25) | gnomAD v4 |
| 13 | g.113149373_113149376del | CA612868378 | F10 | c.1323_1326del (p.Glu441AspfsTer25) c.*314_*317del (n.*314_*317del) c.1191_1194del (p.Glu397AspfsTer25) | dbSNP gnomAD v2 |
| 13 | g.113149373_113149376delinsGGGC | CA2120140572 | F10 | c.1323_1326delinsGGGC (p.Glu441=) c.*314_*317delinsGGGC (n.*314_*317delinsGGGC) c.1191_1194delinsGGGC (p.Glu397=) | |
| 13 | g.113149373_113149384del | CA612868377 | F10 | c.1323_1334del (p.Glu441_Arg445delinsAsp) c.*314_*325del (n.*314_*325del) c.1191_1202del (p.Glu397_Arg401delinsAsp) | gnomAD v2 gnomAD v4 |
| 13 | g.113149373_113149374insTTTTTTAATCATAC | CA960419792 | F10 | c.1323_1324insTTTTTTAATCATAC (p.Gly442PhefsTer30) c.*314_*315insTTTTTTAATCATAC (n.*314_*315insTTTTTTAATCATAC) c.1191_1192insTTTTTTAATCATAC (p.Gly398PhefsTer30) | gnomAD v3 gnomAD v4 |
| 13 | g.113149374G>A | CA388794257 | F10 | c.1324G>A (p.Gly442Ser) c.*315G>A (n.*315G>A) c.1192G>A (p.Gly398Ser) | gnomAD v4 |
| 13 | g.113149374G>C | CA388794258 | F10 | c.1324G>C (p.Gly442Arg) c.*315G>C (n.*315G>C) c.1192G>C (p.Gly398Arg) | |
| 13 | g.113149374G= | CA2120140580 | F10 | c.1324G= (p.Gly442=) c.*315G= (n.*315G=) c.1192G= (p.Gly398=) | |
| 13 | g.113149374G>T | CA388794259 | F10 | c.1324G>T (p.Gly442Cys) c.*315G>T (n.*315G>T) c.1192G>T (p.Gly398Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149374_113149376del | CA612868379 | F10 | c.1324_1326del (p.Gly442del) c.*315_*317del (n.*315_*317del) c.1192_1194del (p.Gly398del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149375G>A | CA388794263 | F10 | c.1325G>A (p.Gly442Asp) c.*316G>A (n.*316G>A) c.1193G>A (p.Gly398Asp) | ClinVar dbSNP gnomAD v4 |
| 13 | g.113149375G>C | CA388794264 | F10 | c.1325G>C (p.Gly442Ala) c.*316G>C (n.*316G>C) c.1193G>C (p.Gly398Ala) | |
| 13 | g.113149375G= | CA2120140585 | F10 | c.1325G= (p.Gly442=) c.*316G= (n.*316G=) c.1193G= (p.Gly398=) | |
| 13 | g.113149375G>T | CA388794261 | F10 | c.1325G>T (p.Gly442Val) c.*316G>T (n.*316G>T) c.1193G>T (p.Gly398Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149375_113149376del | CA960419801 | F10 | c.1325_1326del (p.Gly442ValfsTer4) c.*316_*317del (n.*316_*317del) c.1193_1194del (p.Gly398ValfsTer4) | gnomAD v3 gnomAD v4 |
| 13 | g.113149376del | CA2623810225 | F10 | c.1326del (p.Cys443ValfsTer24) c.*317del (n.*317del) c.1194del (p.Cys399ValfsTer24) | gnomAD v4 |
| 13 | g.113149376C>A | CA485424198 | F10 | c.1326C>A (p.Gly442=) c.*317C>A (n.*317C>A) c.1194C>A (p.Gly398=) | |
| 13 | g.113149376C= | CA2120140595 | F10 | c.1326C= (p.Gly442=) c.*317C= (n.*317C=) c.1194C= (p.Gly398=) | |
| 13 | g.113149376C>G | CA7060729 | F10 | c.1326C>G (p.Gly442=) c.*317C>G (n.*317C>G) c.1194C>G (p.Gly398=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149376C>T | CA485424200 | F10 | c.1326C>T (p.Gly442=) c.*317C>T (n.*317C>T) c.1194C>T (p.Gly398=) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149377T>A | CA388794268 | F10 | c.1327T>A (p.Cys443Ser) c.*318T>A (n.*318T>A) c.1195T>A (p.Cys399Ser) | |
| 13 | g.113149377T>C | CA388794269 | F10 | c.1327T>C (p.Cys443Arg) c.*318T>C (n.*318T>C) c.1195T>C (p.Cys399Arg) | |
| 13 | g.113149377T>G | CA388794271 | F10 | c.1327T>G (p.Cys443Gly) c.*318T>G (n.*318T>G) c.1195T>G (p.Cys399Gly) | |
| 13 | g.113149377_113149378insTTT | CA2800665279 | F10 | c.1327_1328insTTT (p.Gly442_Cys443insPhe) c.*318_*319insTTT (n.*318_*319insTTT) c.1195_1196insTTT (p.Gly398_Cys399insPhe) | |
| 13 | g.113149377_113149379del | CA612868380 | F10 | c.1327_1329del (p.Cys443del) c.*318_*320del (n.*318_*320del) c.1195_1197del (p.Cys399del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149378del | CA960419809 | F10 | c.1328del (p.Cys443LeufsTer24) c.*319del (n.*319del) c.1196del (p.Cys399LeufsTer24) | gnomAD v3 gnomAD v4 |
| 13 | g.113149378G>A | CA388794273 | F10 | c.1328G>A (p.Cys443Tyr) c.*319G>A (n.*319G>A) c.1196G>A (p.Cys399Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149378G>C | CA388794274 | F10 | c.1328G>C (p.Cys443Ser) c.*319G>C (n.*319G>C) c.1196G>C (p.Cys399Ser) | gnomAD v4 |
| 13 | g.113149378G= | CA2120140602 | F10 | c.1328G= (p.Cys443=) c.*319G= (n.*319G=) c.1196G= (p.Cys399=) | |
| 13 | g.113149378G>T | CA388794276 | F10 | c.1328G>T (p.Cys443Phe) c.*319G>T (n.*319G>T) c.1196G>T (p.Cys399Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149380_113149385del | CA2623810233 | F10 | c.1330_1335del (p.Ala444_Arg445del) c.*321_*326del (n.*321_*326del) c.1198_1203del (p.Ala400_Arg401del) | gnomAD v4 |
| 13 | g.113149379T>A | CA388794278 | F10 | c.1329T>A (p.Cys443Ter) c.*320T>A (n.*320T>A) c.1197T>A (p.Cys399Ter) | |
| 13 | g.113149379T>C | CA485424735 | F10 | c.1329T>C (p.Cys443=) c.*320T>C (n.*320T>C) c.1197T>C (p.Cys399=) | |
| 13 | g.113149379T>G | CA388794280 | F10 | c.1329T>G (p.Cys443Trp) c.*320T>G (n.*320T>G) c.1197T>G (p.Cys399Trp) | |
| 13 | g.113149379_113149383del | CA2623810235 | F10 | c.1329_1333del (p.Cys443TrpfsTer2) c.*320_*324del (n.*320_*324del) c.1197_1201del (p.Cys399TrpfsTer2) | gnomAD v4 |
| 13 | g.113149379_113149384delinsTGCCCG | CA2120140609 | F10 | c.1329_1334delinsTGCCCG (p.Cys443=) c.*320_*325delinsTGCCCG (n.*320_*325delinsTGCCCG) c.1197_1202delinsTGCCCG (p.Cys399=) | |
| 13 | g.113149380G>A | CA388794281 | F10 | c.1330G>A (p.Ala444Thr) c.*321G>A (n.*321G>A) c.1198G>A (p.Ala400Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149380G>C | CA388794282 | F10 | c.1330G>C (p.Ala444Pro) c.*321G>C (n.*321G>C) c.1198G>C (p.Ala400Pro) | |
| 13 | g.113149380G= | CA2120140615 | F10 | c.1330G= (p.Ala444=) c.*321G= (n.*321G=) c.1198G= (p.Ala400=) | |
| 13 | g.113149380G>T | CA388794283 | F10 | c.1330G>T (p.Ala444Ser) c.*321G>T (n.*321G>T) c.1198G>T (p.Ala400Ser) | |
| 13 | g.113149380_113149382del | CA2623810242 | F10 | c.1330_1332del (p.Ala444del) c.*321_*323del (n.*321_*323del) c.1198_1200del (p.Ala400del) | gnomAD v4 |
| 13 | g.113149380_113149384del | CA612868383 | F10 | c.1330_1334del (p.Ala444Ter) c.*321_*325del (n.*321_*325del) c.1198_1202del (p.Ala400Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149381_113149384del | CA612868384 | F10 | c.1331_1334del (p.Ala444ValfsTer22) c.*322_*325del (n.*322_*325del) c.1199_1202del (p.Ala400ValfsTer22) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149381_113149391del | CA612868382 | F10 | c.1331_1341del (p.Ala444GlufsTer?) c.*322_*332del (n.*322_*332del) c.1199_1209del (p.Ala400GlufsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149381C>A | CA388794285 | F10 | c.1331C>A (p.Ala444Asp) c.*322C>A (n.*322C>A) c.1199C>A (p.Ala400Asp) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149381C= | CA2120140622 | F10 | c.1331C= (p.Ala444=) c.*322C= (n.*322C=) c.1199C= (p.Ala400=) | |
| 13 | g.113149381C>G | CA388794287 | F10 | c.1331C>G (p.Ala444Gly) c.*322C>G (n.*322C>G) c.1199C>G (p.Ala400Gly) | |
| 13 | g.113149381C>T | CA388794288 | F10 | c.1331C>T (p.Ala444Val) c.*322C>T (n.*322C>T) c.1199C>T (p.Ala400Val) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149381_113149383del | CA2800665283 | F10 | c.1331_1333del (p.Ala444_Arg445delinsGly) c.*322_*324del (n.*322_*324del) c.1199_1201del (p.Ala400_Arg401delinsGly) | |
| 13 | g.113149382C>A | CA485424753 | F10 | c.1332C>A (p.Ala444=) c.*323C>A (n.*323C>A) c.1200C>A (p.Ala400=) | |
| 13 | g.113149382C>G | CA485424755 | F10 | c.1332C>G (p.Ala444=) c.*323C>G (n.*323C>G) c.1200C>G (p.Ala400=) | gnomAD v4 |
| 13 | g.113149382C>T | CA485424757 | F10 | c.1332C>T (p.Ala444=) c.*323C>T (n.*323C>T) c.1200C>T (p.Ala400=) | |
| 13 | g.113149382_113149384del | CA612868385 | F10 | c.1332_1334del (p.Arg445del) c.*323_*325del (n.*323_*325del) c.1200_1202del (p.Arg401del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149383C>A | CA388794290 | F10 | c.1333C>A (p.Arg445Ser) c.*324C>A (n.*324C>A) c.1201C>A (p.Arg401Ser) | gnomAD v4 |
| 13 | g.113149383C= | CA2120140628 | F10 | c.1333C= (p.Arg445=) c.*324C= (n.*324C=) c.1201C= (p.Arg401=) | |
| 13 | g.113149383C>G | CA388794291 | F10 | c.1333C>G (p.Arg445Gly) c.*324C>G (n.*324C>G) c.1201C>G (p.Arg401Gly) | gnomAD v4 |
| 13 | g.113149383C>T | CA7060730 | F10 | c.1333C>T (p.Arg445Cys) c.*324C>T (n.*324C>T) c.1201C>T (p.Arg401Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149384G>A | CA388794293 | F10 | c.1334G>A (p.Arg445His) c.*325G>A (n.*325G>A) c.1202G>A (p.Arg401His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149384G>C | CA388794295 | F10 | c.1334G>C (p.Arg445Pro) c.*325G>C (n.*325G>C) c.1202G>C (p.Arg401Pro) | |
| 13 | g.113149384G= | CA2120140635 | F10 | c.1334G= (p.Arg445=) c.*325G= (n.*325G=) c.1202G= (p.Arg401=) | |
| 13 | g.113149384G>T | CA388794296 | F10 | c.1334G>T (p.Arg445Leu) c.*325G>T (n.*325G>T) c.1202G>T (p.Arg401Leu) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149384_113149395del | CA612868386 | F10 | c.1334_1345del (p.Arg445_Tyr449delinsHis) c.*325_*336del (n.*325_*336del) c.1202_1213del (p.Arg401_Tyr405delinsHis) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149384_113149385insATGA | CA2800665289 | F10 | c.1334_1335insATGA (p.Lys446Ter) c.*325_*326insATGA (n.*325_*326insATGA) c.1202_1203insATGA (p.Lys402Ter) | |
| 13 | g.113149385T>A | CA485424774 | F10 | c.1335T>A (p.Arg445=) c.*326T>A (n.*326T>A) c.1203T>A (p.Arg401=) | |
| 13 | g.113149385T>C | CA485424778 | F10 | c.1335T>C (p.Arg445=) c.*326T>C (n.*326T>C) c.1203T>C (p.Arg401=) | dbSNP |
| 13 | g.113149385T>G | CA485424779 | F10 | c.1335T>G (p.Arg445=) c.*326T>G (n.*326T>G) c.1203T>G (p.Arg401=) | gnomAD v4 |
| 13 | g.113149385T= | CA2120140641 | F10 | c.1335T= (p.Arg445=) c.*326T= (n.*326T=) c.1203T= (p.Arg401=) | |
| 13 | g.113149385_113149386insTT | CA612868387 | F10 | c.1335_1336insTT (p.Lys446LeufsTer22) c.*326_*327insTT (n.*326_*327insTT) c.1203_1204insTT (p.Lys402LeufsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149385_113149386insTTT | CA612868388 | F10 | c.1335_1336insTTT (p.Arg445_Lys446insPhe) c.*326_*327insTTT (n.*326_*327insTTT) c.1203_1204insTTT (p.Arg401_Lys402insPhe) | gnomAD v2 |
| 13 | g.113149385_113149386insTTTTT | CA2623810275 | F10 | c.1335_1336insTTTTT (p.Lys446PhefsTer23) c.*326_*327insTTTTT (n.*326_*327insTTTTT) c.1203_1204insTTTTT (p.Lys402PhefsTer23) | gnomAD v4 |
| 13 | g.113149385_113149386insTGTTTT | CA2800665290 | F10 | c.1335_1336insTGTTTT (p.Arg445_Lys446insCysPhe) c.*326_*327insTGTTTT (n.*326_*327insTGTTTT) c.1203_1204insTGTTTT (p.Arg401_Lys402insCysPhe) | |
| 13 | g.113149385_113149386insTTTTTTTTT | CA612868389 | F10 | c.1335_1336insTTTTTTTTT (p.Arg445_Lys446insPhePhePhe) c.*326_*327insTTTTTTTTT (n.*326_*327insTTTTTTTTT) c.1203_1204insTTTTTTTTT (p.Arg401_Lys402insPhePhePhe) | gnomAD v2 |
| 13 | g.113149385_113149390delinsTAAGGG | CA2120140639 | F10 | c.1335_1340delinsTAAGGG (p.Arg445=) c.*326_*331delinsTAAGGG (n.*326_*331delinsTAAGGG) c.1203_1208delinsTAAGGG (p.Arg401=) | |
| 13 | g.113149386A>C | CA388794299 | F10 | c.1336A>C (p.Lys446Gln) c.*327A>C (n.*327A>C) c.1204A>C (p.Lys402Gln) | |
| 13 | g.113149386A>G | CA388794301 | F10 | c.1336A>G (p.Lys446Glu) c.*327A>G (n.*327A>G) c.1204A>G (p.Lys402Glu) | |
| 13 | g.113149386A>T | CA388794303 | F10 | c.1336A>T (p.Lys446Ter) c.*327A>T (n.*327A>T) c.1204A>T (p.Lys402Ter) | |
| 13 | g.113149386_113149390del | CA612868390 | F10 | c.1336_1340del (p.Lys446GlufsTer?) c.*327_*331del (n.*327_*331del) c.1204_1208del (p.Lys402GlufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149387A>C | CA388794305 | F10 | c.1337A>C (p.Lys446Thr) c.*328A>C (n.*328A>C) c.1205A>C (p.Lys402Thr) | gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.113149387A>G | CA388794307 | F10 | c.1337A>G (p.Lys446Arg) c.*328A>G (n.*328A>G) c.1205A>G (p.Lys402Arg) | |
| 13 | g.113149387A>T | CA388794308 | F10 | c.1337A>T (p.Lys446Met) c.*328A>T (n.*328A>T) c.1205A>T (p.Lys402Met) | gnomAD v4 |
| 13 | g.113149387_113149389delinsAGG | CA2120140645 | F10 | c.1337_1339delinsAGG (p.Lys446=) c.*328_*330delinsAGG (n.*328_*330delinsAGG) c.1205_1207delinsAGG (p.Lys402=) | |
| 13 | g.113149387_113149388insTCATAC | CA2800665298 | F10 | c.1337_1338insTCATAC (p.Lys446delinsAsnHisThr) c.*328_*329insTCATAC (n.*328_*329insTCATAC) c.1205_1206insTCATAC (p.Lys402delinsAsnHisThr) | |
| 13 | g.113149387_113149388insTGATAC | CA2623810294 | F10 | c.1337_1338insTGATAC (p.Lys446delinsAsnAspThr) c.*328_*329insTGATAC (n.*328_*329insTGATAC) c.1205_1206insTGATAC (p.Lys402delinsAsnAspThr) | gnomAD v4 |
| 13 | g.113149388G>A | CA7060731 | F10 | c.1338G>A (p.Lys446=) c.*329G>A (n.*329G>A) c.1206G>A (p.Lys402=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149388G>C | CA388794311 | F10 | c.1338G>C (p.Lys446Asn) c.*329G>C (n.*329G>C) c.1206G>C (p.Lys402Asn) | |
| 13 | g.113149388G= | CA2120140649 | F10 | c.1338G= (p.Lys446=) c.*329G= (n.*329G=) c.1206G= (p.Lys402=) | |
| 13 | g.113149388G>T | CA388794313 | F10 | c.1338G>T (p.Lys446Asn) c.*329G>T (n.*329G>T) c.1206G>T (p.Lys402Asn) | gnomAD v4 |
| 13 | g.113149390_113149391del | CA612868391 | F10 | c.1340_1341del (p.Gly447GlufsTer?) c.*331_*332del (n.*331_*332del) c.1208_1209del (p.Gly403GlufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149389G>A | CA7060732 | F10 | c.1339G>A (p.Gly447Arg) c.*330G>A (n.*330G>A) c.1207G>A (p.Gly403Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.113149389G>C | CA388794317 | F10 | c.1339G>C (p.Gly447Arg) c.*330G>C (n.*330G>C) c.1207G>C (p.Gly403Arg) | |
| 13 | g.113149389G= | CA2120140650 | F10 | c.1339G= (p.Gly447=) c.*330G= (n.*330G=) c.1207G= (p.Gly403=) | |
| 13 | g.113149389G>T | CA388794315 | F10 | c.1339G>T (p.Gly447Trp) c.*330G>T (n.*330G>T) c.1207G>T (p.Gly403Trp) | |
| 13 | g.113149390G>A | CA388794319 | F10 | c.1340G>A (p.Gly447Glu) c.*331G>A (n.*331G>A) c.1208G>A (p.Gly403Glu) | |
| 13 | g.113149390G>C | CA388794320 | F10 | c.1340G>C (p.Gly447Ala) c.*331G>C (n.*331G>C) c.1208G>C (p.Gly403Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149390G= | CA2120140653 | F10 | c.1340G= (p.Gly447=) c.*331G= (n.*331G=) c.1208G= (p.Gly403=) | |
| 13 | g.113149390G>T | CA388794322 | F10 | c.1340G>T (p.Gly447Val) c.*331G>T (n.*331G>T) c.1208G>T (p.Gly403Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149391_113149394del | CA2623810313 | F10 | c.1341_1344del (p.Lys448ThrfsTer18) c.*332_*335del (n.*332_*335del) c.1209_1212del (p.Lys404ThrfsTer18) | gnomAD v4 |
| 13 | g.113149391G>A | CA256478746 | F10 | c.1341G>A (p.Gly447=) c.*332G>A (n.*332G>A) c.1209G>A (p.Gly403=) | dbSNP |
| 13 | g.113149391G>C | CA485424819 | F10 | c.1341G>C (p.Gly447=) c.*332G>C (n.*332G>C) c.1209G>C (p.Gly403=) | |
| 13 | g.113149391G= | CA2120140658 | F10 | c.1341G= (p.Gly447=) c.*332G= (n.*332G=) c.1209G= (p.Gly403=) | |
| 13 | g.113149391G>T | CA485424823 | F10 | c.1341G>T (p.Gly447=) c.*332G>T (n.*332G>T) c.1209G>T (p.Gly403=) | |
| 13 | g.113149392A>C | CA388794324 | F10 | c.1342A>C (p.Lys448Gln) c.*333A>C (n.*333A>C) c.1210A>C (p.Lys404Gln) | |
| 13 | g.113149392A>G | CA388794326 | F10 | c.1342A>G (p.Lys448Glu) c.*333A>G (n.*333A>G) c.1210A>G (p.Lys404Glu) | |
| 13 | g.113149392A>T | CA388794327 | F10 | c.1342A>T (p.Lys448Ter) c.*333A>T (n.*333A>T) c.1210A>T (p.Lys404Ter) | |
| 13 | g.113149392_113149394delinsAAG | CA2120140661 | F10 | c.1342_1344delinsAAG (p.Lys448=) c.*333_*335delinsAAG (n.*333_*335delinsAAG) c.1210_1212delinsAAG (p.Lys404=) | |
| 13 | g.113149392_113149393insCC | CA612868393 | F10 | c.1342_1343insCC (p.Lys448ThrfsTer20) c.*333_*334insCC (n.*333_*334insCC) c.1210_1211insCC (p.Lys404ThrfsTer20) | gnomAD v2 gnomAD v4 |
| 13 | g.113149393A>C | CA388794332 | F10 | c.1343A>C (p.Lys448Thr) c.*334A>C (n.*334A>C) c.1211A>C (p.Lys404Thr) | gnomAD v4 |
| 13 | g.113149393A>G | CA388794329 | F10 | c.1343A>G (p.Lys448Arg) c.*334A>G (n.*334A>G) c.1211A>G (p.Lys404Arg) | |
| 13 | g.113149393A>T | CA388794331 | F10 | c.1343A>T (p.Lys448Met) c.*334A>T (n.*334A>T) c.1211A>T (p.Lys404Met) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149393_113149394del | CA612868392 | F10 | c.1343_1344del (p.Lys448IlefsTer?) c.*334_*335del (n.*334_*335del) c.1211_1212del (p.Lys404IlefsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149394G>A | CA485424838 | F10 | c.1344G>A (p.Lys448=) c.*335G>A (n.*335G>A) c.1212G>A (p.Lys404=) | |
| 13 | g.113149394G>C | CA388794334 | F10 | c.1344G>C (p.Lys448Asn) c.*335G>C (n.*335G>C) c.1212G>C (p.Lys404Asn) | gnomAD v4 |
| 13 | g.113149394G= | CA2120140667 | F10 | c.1344G= (p.Lys448=) c.*335G= (n.*335G=) c.1212G= (p.Lys404=) | |
| 13 | g.113149394G>T | CA388794336 | F10 | c.1344G>T (p.Lys448Asn) c.*335G>T (n.*335G>T) c.1212G>T (p.Lys404Asn) | |
| 13 | g.113149394_113149395del | CA612868394 | F10 | c.1344_1345del (p.Tyr449ArgfsTer?) c.*335_*336del (n.*335_*336del) c.1212_1213del (p.Tyr405ArgfsTer?) | gnomAD v2 gnomAD v4 |
| 13 | g.113149394_113149395insA | CA612868395 | F10 | c.1344_1345insA (p.Tyr449IlefsTer?) c.*335_*336insA (n.*335_*336insA) c.1212_1213insA (p.Tyr405IlefsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149395T>A | CA388794338 | F10 | c.1345T>A (p.Tyr449Asn) c.*336T>A (n.*336T>A) c.1213T>A (p.Tyr405Asn) | gnomAD v4 |
| 13 | g.113149395T>C | CA388794339 | F10 | c.1345T>C (p.Tyr449His) c.*336T>C (n.*336T>C) c.1213T>C (p.Tyr405His) | |
| 13 | g.113149395T>G | CA388794342 | F10 | c.1345T>G (p.Tyr449Asp) c.*336T>G (n.*336T>G) c.1213T>G (p.Tyr405Asp) | |
| 13 | g.113149396A= | CA2120140669 | F10 | c.1346A= (p.Tyr449=) c.*337A= (n.*337A=) c.1214A= (p.Tyr405=) | |
| 13 | g.113149396A>C | CA388794344 | F10 | c.1346A>C (p.Tyr449Ser) c.*337A>C (n.*337A>C) c.1214A>C (p.Tyr405Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113149396A>G | CA388794347 | F10 | c.1346A>G (p.Tyr449Cys) c.*337A>G (n.*337A>G) c.1214A>G (p.Tyr405Cys) | |
| 13 | g.113149396A>T | CA388794345 | F10 | c.1346A>T (p.Tyr449Phe) c.*337A>T (n.*337A>T) c.1214A>T (p.Tyr405Phe) | |
| 13 | g.113149397C>A | CA388794349 | F10 | c.1347C>A (p.Tyr449Ter) c.*338C>A (n.*338C>A) c.1215C>A (p.Tyr405Ter) | |
| 13 | g.113149397C= | CA2120140673 | F10 | c.1347C= (p.Tyr449=) c.*338C= (n.*338C=) c.1215C= (p.Tyr405=) | |
| 13 | g.113149397C>G | CA388794351 | F10 | c.1347C>G (p.Tyr449Ter) c.*338C>G (n.*338C>G) c.1215C>G (p.Tyr405Ter) | |
| 13 | g.113149397C>T | CA485424857 | F10 | c.1347C>T (p.Tyr449=) c.*338C>T (n.*338C>T) c.1215C>T (p.Tyr405=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149397dup | CA612868396 | F10 | c.1347dup (p.Gly450ArgfsTer?) c.*338dup (n.*338dup) c.1215dup (p.Gly406ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149398G>A | CA388794353 | F10 | c.1348G>A (p.Gly450Arg) c.*339G>A (n.*339G>A) c.1216G>A (p.Gly406Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.113149398G>C | CA388794355 | F10 | c.1348G>C (p.Gly450Arg) c.*339G>C (n.*339G>C) c.1216G>C (p.Gly406Arg) | |
| 13 | g.113149398G= | CA2120140680 | F10 | c.1348G= (p.Gly450=) c.*339G= (n.*339G=) c.1216G= (p.Gly406=) | |
| 13 | g.113149398G>T | CA388794356 | F10 | c.1348G>T (p.Gly450Trp) c.*339G>T (n.*339G>T) c.1216G>T (p.Gly406Trp) | |
| 13 | g.113149399G>A | CA388794357 | F10 | c.1349G>A (p.Gly450Glu) c.*340G>A (n.*340G>A) c.1217G>A (p.Gly406Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149399G>C | CA388794358 | F10 | c.1349G>C (p.Gly450Ala) c.*340G>C (n.*340G>C) c.1217G>C (p.Gly406Ala) | |
| 13 | g.113149399G= | CA2120140688 | F10 | c.1349G= (p.Gly450=) c.*340G= (n.*340G=) c.1217G= (p.Gly406=) | |
| 13 | g.113149399G>T | CA388794359 | F10 | c.1349G>T (p.Gly450Val) c.*340G>T (n.*340G>T) c.1217G>T (p.Gly406Val) | dbSNP gnomAD v2 |
| 13 | g.113149399_113149400insCGAACACCGA | CA2623810349 | F10 | c.1349_1350insCGAACACCGA (p.Ile451GlufsTer?) c.*340_*341insCGAACACCGA (n.*340_*341insCGAACACCGA) c.1217_1218insCGAACACCGA (p.Ile407GlufsTer?) | gnomAD v4 |
| 13 | g.113149399_113149400insCGACCACCGA | CA612868397 | F10 | c.1349_1350insCGACCACCGA (p.Ile451AspfsTer?) c.*340_*341insCGACCACCGA (n.*340_*341insCGACCACCGA) c.1217_1218insCGACCACCGA (p.Ile407AspfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149399_113149400insCGACCTCCGA | CA2623810347 | F10 | c.1349_1350insCGACCTCCGA (p.Ile451AspfsTer?) c.*340_*341insCGACCTCCGA (n.*340_*341insCGACCTCCGA) c.1217_1218insCGACCTCCGA (p.Ile407AspfsTer?) | gnomAD v4 |
| 13 | g.113149399_113149400insCGACGACCGA | CA2800665312 | F10 | c.1349_1350insCGACGACCGA (p.Ile451AspfsTer?) c.*340_*341insCGACGACCGA (n.*340_*341insCGACGACCGA) c.1217_1218insCGACGACCGA (p.Ile407AspfsTer?) | |
| 13 | g.113149400G>A | CA7060733 | F10 | c.1350G>A (p.Gly450=) c.*341G>A (n.*341G>A) c.1218G>A (p.Gly406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149400G>C | CA485424862 | F10 | c.1350G>C (p.Gly450=) c.*341G>C (n.*341G>C) c.1218G>C (p.Gly406=) | gnomAD v4 |
| 13 | g.113149400G= | CA2120140693 | F10 | c.1350G= (p.Gly450=) c.*341G= (n.*341G=) c.1218G= (p.Gly406=) | |
| 13 | g.113149400G>T | CA485424864 | F10 | c.1350G>T (p.Gly450=) c.*341G>T (n.*341G>T) c.1218G>T (p.Gly406=) | |
| 13 | g.113149401A= | CA2120140696 | F10 | c.1351A= (p.Ile451=) c.*342A= (n.*342A=) c.1219A= (p.Ile407=) | |
| 13 | g.113149401A>C | CA7060734 | F10 | c.1351A>C (p.Ile451Leu) c.*342A>C (n.*342A>C) c.1219A>C (p.Ile407Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149401A>G | CA388794363 | F10 | c.1351A>G (p.Ile451Val) c.*342A>G (n.*342A>G) c.1219A>G (p.Ile407Val) | |
| 13 | g.113149401A>T | CA388794364 | F10 | c.1351A>T (p.Ile451Phe) c.*342A>T (n.*342A>T) c.1219A>T (p.Ile407Phe) | |
| 13 | g.113149402T>A | CA388794369 | F10 | c.1352T>A (p.Ile451Asn) c.*343T>A (n.*343T>A) c.1220T>A (p.Ile407Asn) | |
| 13 | g.113149402T>C | CA388794370 | F10 | c.1352T>C (p.Ile451Thr) c.*343T>C (n.*343T>C) c.1220T>C (p.Ile407Thr) | |
| 13 | g.113149402T>G | CA388794367 | F10 | c.1352T>G (p.Ile451Ser) c.*343T>G (n.*343T>G) c.1220T>G (p.Ile407Ser) | |
| 13 | g.113149403C>A | CA485424878 | F10 | c.1353C>A (p.Ile451=) c.*344C>A (n.*344C>A) c.1221C>A (p.Ile407=) | |
| 13 | g.113149403C>G | CA388794372 | F10 | c.1353C>G (p.Ile451Met) c.*344C>G (n.*344C>G) c.1221C>G (p.Ile407Met) | |
| 13 | g.113149403C>T | CA485424882 | F10 | c.1353C>T (p.Ile451=) c.*344C>T (n.*344C>T) c.1221C>T (p.Ile407=) | |
| 13 | g.113149404T>A | CA388794375 | F10 | c.1354T>A (p.Tyr452Asn) c.*345T>A (n.*345T>A) c.1222T>A (p.Tyr408Asn) | |
| 13 | g.113149404T>C | CA388794374 | F10 | c.1354T>C (p.Tyr452His) c.*345T>C (n.*345T>C) c.1222T>C (p.Tyr408His) | |
| 13 | g.113149404T>G | CA388794377 | F10 | c.1354T>G (p.Tyr452Asp) c.*345T>G (n.*345T>G) c.1222T>G (p.Tyr408Asp) | |
| 13 | g.113149404_113149418delinsTACACCAAGGTCACC | CA2120140698 | F10 | c.1354_1368delinsTACACCAAGGTCACC (p.Tyr452=) c.*345_*359delinsTACACCAAGGTCACC (n.*345_*359delinsTACACCAAGGTCACC) c.1222_1236delinsTACACCAAGGTCACC (p.Tyr408=) | |
| 13 | g.113149405A>C | CA388794378 | F10 | c.1355A>C (p.Tyr452Ser) c.*346A>C (n.*346A>C) c.1223A>C (p.Tyr408Ser) | |
| 13 | g.113149405A>G | CA388794382 | F10 | c.1355A>G (p.Tyr452Cys) c.*346A>G (n.*346A>G) c.1223A>G (p.Tyr408Cys) | |
| 13 | g.113149405A>T | CA388794380 | F10 | c.1355A>T (p.Tyr452Phe) c.*346A>T (n.*346A>T) c.1223A>T (p.Tyr408Phe) | |
| 13 | g.113149405_113149418del | CA2120140701 | F10 | c.1355_1368del (p.Tyr452CysfsTer?) c.*346_*359del (n.*346_*359del) c.1223_1236del (p.Tyr408CysfsTer?) | dbSNP |
| 13 | g.113149406C>A | CA388794384 | F10 | c.1356C>A (p.Tyr452Ter) c.*347C>A (n.*347C>A) c.1224C>A (p.Tyr408Ter) | |
| 13 | g.113149406C>G | CA388794385 | F10 | c.1356C>G (p.Tyr452Ter) c.*347C>G (n.*347C>G) c.1224C>G (p.Tyr408Ter) | |
| 13 | g.113149406C>T | CA485424900 | F10 | c.1356C>T (p.Tyr452=) c.*347C>T (n.*347C>T) c.1224C>T (p.Tyr408=) | gnomAD v4 |
| 13 | g.113149407A>C | CA388794387 | F10 | c.1357A>C (p.Thr453Pro) c.*348A>C (n.*348A>C) c.1225A>C (p.Thr409Pro) | |
| 13 | g.113149407A>G | CA388794388 | F10 | c.1357A>G (p.Thr453Ala) c.*348A>G (n.*348A>G) c.1225A>G (p.Thr409Ala) | |
| 13 | g.113149407A>T | CA388794389 | F10 | c.1357A>T (p.Thr453Ser) c.*348A>T (n.*348A>T) c.1225A>T (p.Thr409Ser) | |
| 13 | g.113149408C>A | CA388794391 | F10 | c.1358C>A (p.Thr453Asn) c.*349C>A (n.*349C>A) c.1226C>A (p.Thr409Asn) | |
| 13 | g.113149408C= | CA2120140705 | F10 | c.1358C= (p.Thr453=) c.*349C= (n.*349C=) c.1226C= (p.Thr409=) | |
| 13 | g.113149408C>G | CA256478749 | F10 | c.1358C>G (p.Thr453Ser) c.*349C>G (n.*349C>G) c.1226C>G (p.Thr409Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149408C>T | CA388794393 | F10 | c.1358C>T (p.Thr453Ile) c.*349C>T (n.*349C>T) c.1226C>T (p.Thr409Ile) | dbSNP |
| 13 | g.113149409C>A | CA485424917 | F10 | c.1359C>A (p.Thr453=) c.*350C>A (n.*350C>A) c.1227C>A (p.Thr409=) | |
| 13 | g.113149409C= | CA2120140708 | F10 | c.1359C= (p.Thr453=) c.*350C= (n.*350C=) c.1227C= (p.Thr409=) | |
| 13 | g.113149409C>G | CA485424919 | F10 | c.1359C>G (p.Thr453=) c.*350C>G (n.*350C>G) c.1227C>G (p.Thr409=) | gnomAD v4 |
| 13 | g.113149409C>T | CA485424922 | F10 | c.1359C>T (p.Thr453=) c.*350C>T (n.*350C>T) c.1227C>T (p.Thr409=) | dbSNP |
| 13 | g.113149410A= | CA2120140713 | F10 | c.1360A= (p.Lys454=) c.*351A= (n.*351A=) c.1228A= (p.Lys410=) | |
| 13 | g.113149410A>C | CA388794394 | F10 | c.1360A>C (p.Lys454Gln) c.*351A>C (n.*351A>C) c.1228A>C (p.Lys410Gln) | |
| 13 | g.113149410A>G | CA388794395 | F10 | c.1360A>G (p.Lys454Glu) c.*351A>G (n.*351A>G) c.1228A>G (p.Lys410Glu) | gnomAD v4 |
| 13 | g.113149410A>T | CA388794396 | F10 | c.1360A>T (p.Lys454Ter) c.*351A>T (n.*351A>T) c.1228A>T (p.Lys410Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149411A>C | CA388794397 | F10 | c.1361A>C (p.Lys454Thr) c.*352A>C (n.*352A>C) c.1229A>C (p.Lys410Thr) | |
| 13 | g.113149411A>G | CA388794398 | F10 | c.1361A>G (p.Lys454Arg) c.*352A>G (n.*352A>G) c.1229A>G (p.Lys410Arg) | |
| 13 | g.113149411A>T | CA388794399 | F10 | c.1361A>T (p.Lys454Met) c.*352A>T (n.*352A>T) c.1229A>T (p.Lys410Met) | |
| 13 | g.113149411_113149412insCACACCCAACACA | CA2800665314 | F10 | c.1361_1362insCACACCCAACACA (p.Lys454AsnfsTer?) c.*352_*353insCACACCCAACACA (n.*352_*353insCACACCCAACACA) c.1229_1230insCACACCCAACACA (p.Lys410AsnfsTer?) | |
| 13 | g.113149412G>A | CA485424940 | F10 | c.1362G>A (p.Lys454=) c.*353G>A (n.*353G>A) c.1230G>A (p.Lys410=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149412G>C | CA388794403 | F10 | c.1362G>C (p.Lys454Asn) c.*353G>C (n.*353G>C) c.1230G>C (p.Lys410Asn) | gnomAD v4 |
| 13 | g.113149412G= | CA2120140716 | F10 | c.1362G= (p.Lys454=) c.*353G= (n.*353G=) c.1230G= (p.Lys410=) | |
| 13 | g.113149412G>T | CA388794401 | F10 | c.1362G>T (p.Lys454Asn) c.*353G>T (n.*353G>T) c.1230G>T (p.Lys410Asn) | |
| 13 | g.113149413G>A | CA388794404 | F10 | c.1363G>A (p.Val455Ile) c.*354G>A (n.*354G>A) c.1231G>A (p.Val411Ile) | dbSNP |
| 13 | g.113149413G>C | CA388794406 | F10 | c.1363G>C (p.Val455Leu) c.*354G>C (n.*354G>C) c.1231G>C (p.Val411Leu) | |
| 13 | g.113149413G= | CA2120140720 | F10 | c.1363G= (p.Val455=) c.*354G= (n.*354G=) c.1231G= (p.Val411=) | |
| 13 | g.113149413G>T | CA388794408 | F10 | c.1363G>T (p.Val455Phe) c.*354G>T (n.*354G>T) c.1231G>T (p.Val411Phe) | |
| 13 | g.113149414T>A | CA388794410 | F10 | c.1364T>A (p.Val455Asp) c.*355T>A (n.*355T>A) c.1232T>A (p.Val411Asp) | |
| 13 | g.113149414T>C | CA388794411 | F10 | c.1364T>C (p.Val455Ala) c.*355T>C (n.*355T>C) c.1232T>C (p.Val411Ala) | dbSNP gnomAD v4 |
| 13 | g.113149414T>G | CA388794413 | F10 | c.1364T>G (p.Val455Gly) c.*355T>G (n.*355T>G) c.1232T>G (p.Val411Gly) | |
| 13 | g.113149414T= | CA2120140724 | F10 | c.1364T= (p.Val455=) c.*355T= (n.*355T=) c.1232T= (p.Val411=) | |
| 13 | g.113149415C>A | CA485424962 | F10 | c.1365C>A (p.Val455=) c.*356C>A (n.*356C>A) c.1233C>A (p.Val411=) | |
| 13 | g.113149415C>G | CA485424964 | F10 | c.1365C>G (p.Val455=) c.*356C>G (n.*356C>G) c.1233C>G (p.Val411=) | |
| 13 | g.113149415C>T | CA485424968 | F10 | c.1365C>T (p.Val455=) c.*356C>T (n.*356C>T) c.1233C>T (p.Val411=) | gnomAD v4 |
| 13 | g.113149416A>C | CA388794415 | F10 | c.1366A>C (p.Thr456Pro) c.*357A>C (n.*357A>C) c.1234A>C (p.Thr412Pro) | |
| 13 | g.113149416A>G | CA388794417 | F10 | c.1366A>G (p.Thr456Ala) c.*357A>G (n.*357A>G) c.1234A>G (p.Thr412Ala) | |
| 13 | g.113149416A>T | CA388794418 | F10 | c.1366A>T (p.Thr456Ser) c.*357A>T (n.*357A>T) c.1234A>T (p.Thr412Ser) | |
| 13 | g.113149417C>A | CA388794420 | F10 | c.1367C>A (p.Thr456Asn) c.*358C>A (n.*358C>A) c.1235C>A (p.Thr412Asn) | |
| 13 | g.113149417C= | CA2120140730 | F10 | c.1367C= (p.Thr456=) c.*358C= (n.*358C=) c.1235C= (p.Thr412=) | |
| 13 | g.113149417C>G | CA388794422 | F10 | c.1367C>G (p.Thr456Ser) c.*358C>G (n.*358C>G) c.1235C>G (p.Thr412Ser) | |
| 13 | g.113149417C>T | CA388794423 | F10 | c.1367C>T (p.Thr456Ile) c.*358C>T (n.*358C>T) c.1235C>T (p.Thr412Ile) | dbSNP |
| 13 | g.113149418C>A | CA485424985 | F10 | c.1368C>A (p.Thr456=) c.*359C>A (n.*359C>A) c.1236C>A (p.Thr412=) | |
| 13 | g.113149418C= | CA2120140736 | F10 | c.1368C= (p.Thr456=) c.*359C= (n.*359C=) c.1236C= (p.Thr412=) | |
| 13 | g.113149418C>G | CA485424989 | F10 | c.1368C>G (p.Thr456=) c.*359C>G (n.*359C>G) c.1236C>G (p.Thr412=) | gnomAD v4 |
| 13 | g.113149418C>T | CA7060735 | F10 | c.1368C>T (p.Thr456=) c.*359C>T (n.*359C>T) c.1236C>T (p.Thr412=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149419G>A | CA7060736 | F10 | c.1369G>A (p.Ala457Thr) c.*360G>A (n.*360G>A) c.1237G>A (p.Ala413Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149419G>C | CA388794424 | F10 | c.1369G>C (p.Ala457Pro) c.*360G>C (n.*360G>C) c.1237G>C (p.Ala413Pro) | |
| 13 | g.113149419G= | CA2120140738 | F10 | c.1369G= (p.Ala457=) c.*360G= (n.*360G=) c.1237G= (p.Ala413=) | |
| 13 | g.113149419G>T | CA388794426 | F10 | c.1369G>T (p.Ala457Ser) c.*360G>T (n.*360G>T) c.1237G>T (p.Ala413Ser) | dbSNP |
| 13 | g.113149420C>A | CA388794428 | F10 | c.1370C>A (p.Ala457Asp) c.*361C>A (n.*361C>A) c.1238C>A (p.Ala413Asp) | |
| 13 | g.113149420C>G | CA388794430 | F10 | c.1370C>G (p.Ala457Gly) c.*361C>G (n.*361C>G) c.1238C>G (p.Ala413Gly) | |
| 13 | g.113149420C>T | CA388794431 | F10 | c.1370C>T (p.Ala457Val) c.*361C>T (n.*361C>T) c.1238C>T (p.Ala413Val) | gnomAD v4 |
| 13 | g.113149421C>A | CA485425005 | F10 | c.1371C>A (p.Ala457=) c.*362C>A (n.*362C>A) c.1239C>A (p.Ala413=) | |
| 13 | g.113149421C= | CA2120140741 | F10 | c.1371C= (p.Ala457=) c.*362C= (n.*362C=) c.1239C= (p.Ala413=) | |
| 13 | g.113149421C>G | CA485425007 | F10 | c.1371C>G (p.Ala457=) c.*362C>G (n.*362C>G) c.1239C>G (p.Ala413=) | |
| 13 | g.113149421C>T | CA485425010 | F10 | c.1371C>T (p.Ala457=) c.*362C>T (n.*362C>T) c.1239C>T (p.Ala413=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149422T>A | CA388794434 | F10 | c.1372T>A (p.Phe458Ile) c.*363T>A (n.*363T>A) c.1240T>A (p.Phe414Ile) | |
| 13 | g.113149422T>C | CA388794436 | F10 | c.1372T>C (p.Phe458Leu) c.*363T>C (n.*363T>C) c.1240T>C (p.Phe414Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149422T>G | CA388794437 | F10 | c.1372T>G (p.Phe458Val) c.*363T>G (n.*363T>G) c.1240T>G (p.Phe414Val) | |
| 13 | g.113149422T= | CA2120140744 | F10 | c.1372T= (p.Phe458=) c.*363T= (n.*363T=) c.1240T= (p.Phe414=) | |
| 13 | g.113149423T>A | CA388794442 | F10 | c.1373T>A (p.Phe458Tyr) c.*364T>A (n.*364T>A) c.1241T>A (p.Phe414Tyr) | |
| 13 | g.113149423T>C | CA388794439 | F10 | c.1373T>C (p.Phe458Ser) c.*364T>C (n.*364T>C) c.1241T>C (p.Phe414Ser) | |
| 13 | g.113149423T>G | CA388794441 | F10 | c.1373T>G (p.Phe458Cys) c.*364T>G (n.*364T>G) c.1241T>G (p.Phe414Cys) | |
| 13 | g.113149424C>A | CA388794444 | F10 | c.1374C>A (p.Phe458Leu) c.*365C>A (n.*365C>A) c.1242C>A (p.Phe414Leu) | |
| 13 | g.113149424C>G | CA388794446 | F10 | c.1374C>G (p.Phe458Leu) c.*365C>G (n.*365C>G) c.1242C>G (p.Phe414Leu) | |
| 13 | g.113149424C>T | CA485425036 | F10 | c.1374C>T (p.Phe458=) c.*365C>T (n.*365C>T) c.1242C>T (p.Phe414=) | COSMIC |
| 13 | g.113149425C>A | CA388794448 | F10 | c.1375C>A (p.Leu459Ile) c.*366C>A (n.*366C>A) c.1243C>A (p.Leu415Ile) | |
| 13 | g.113149425C= | CA2120140747 | F10 | c.1375C= (p.Leu459=) c.*366C= (n.*366C=) c.1243C= (p.Leu415=) | |
| 13 | g.113149425C>G | CA388794449 | F10 | c.1375C>G (p.Leu459Val) c.*366C>G (n.*366C>G) c.1243C>G (p.Leu415Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.113149425C>T | CA388794451 | F10 | c.1375C>T (p.Leu459Phe) c.*366C>T (n.*366C>T) c.1243C>T (p.Leu415Phe) | |
| 13 | g.113149426T>A | CA388794454 | F10 | c.1376T>A (p.Leu459His) c.*367T>A (n.*367T>A) c.1244T>A (p.Leu415His) | |
| 13 | g.113149426T>C | CA388794457 | F10 | c.1376T>C (p.Leu459Pro) c.*367T>C (n.*367T>C) c.1244T>C (p.Leu415Pro) | |
| 13 | g.113149426T>G | CA388794455 | F10 | c.1376T>G (p.Leu459Arg) c.*367T>G (n.*367T>G) c.1244T>G (p.Leu415Arg) | |
| 13 | g.113149427C>A | CA485425054 | F10 | c.1377C>A (p.Leu459=) c.*368C>A (n.*368C>A) c.1245C>A (p.Leu415=) | |
| 13 | g.113149427C= | CA2120140752 | F10 | c.1377C= (p.Leu459=) c.*368C= (n.*368C=) c.1245C= (p.Leu415=) | |
| 13 | g.113149427C>G | CA485425056 | F10 | c.1377C>G (p.Leu459=) c.*368C>G (n.*368C>G) c.1245C>G (p.Leu415=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.113149427C>T | CA485425058 | F10 | c.1377C>T (p.Leu459=) c.*368C>T (n.*368C>T) c.1245C>T (p.Leu415=) | |
| 13 | g.113149428A>C | CA388794459 | F10 | c.1378A>C (p.Lys460Gln) c.*369A>C (n.*369A>C) c.1246A>C (p.Lys416Gln) | gnomAD v4 |
| 13 | g.113149428A>G | CA388794461 | F10 | c.1378A>G (p.Lys460Glu) c.*369A>G (n.*369A>G) c.1246A>G (p.Lys416Glu) | |
| 13 | g.113149428A>T | CA388794462 | F10 | c.1378A>T (p.Lys460Ter) c.*369A>T (n.*369A>T) c.1246A>T (p.Lys416Ter) | |
| 13 | g.113149429A>C | CA388794464 | F10 | c.1379A>C (p.Lys460Thr) c.*370A>C (n.*370A>C) c.1247A>C (p.Lys416Thr) | |
| 13 | g.113149429A>G | CA388794465 | F10 | c.1379A>G (p.Lys460Arg) c.*370A>G (n.*370A>G) c.1247A>G (p.Lys416Arg) | |
| 13 | g.113149429A>T | CA388794467 | F10 | c.1379A>T (p.Lys460Met) c.*370A>T (n.*370A>T) c.1247A>T (p.Lys416Met) | |
| 13 | g.113149429_113149430insACACACCCAACACA | CA2800665316 | F10 | c.1379_1380insACACACCCAACACA (p.Trp461HisfsTer11) c.*370_*371insACACACCCAACACA (n.*370_*371insACACACCCAACACA) c.1247_1248insACACACCCAACACA (p.Trp417HisfsTer11) | |
| 13 | g.113149430G>A | CA485425074 | F10 | c.1380G>A (p.Lys460=) c.*371G>A (n.*371G>A) c.1248G>A (p.Lys416=) | |
| 13 | g.113149430G>C | CA388794468 | F10 | c.1380G>C (p.Lys460Asn) c.*371G>C (n.*371G>C) c.1248G>C (p.Lys416Asn) | |
| 13 | g.113149430G>T | CA388794470 | F10 | c.1380G>T (p.Lys460Asn) c.*371G>T (n.*371G>T) c.1248G>T (p.Lys416Asn) | |
| 13 | g.113149431T>A | CA388794472 | F10 | c.1381T>A (p.Trp461Arg) c.*372T>A (n.*372T>A) c.1249T>A (p.Trp417Arg) | |
| 13 | g.113149431T>C | CA388794474 | F10 | c.1381T>C (p.Trp461Arg) c.*372T>C (n.*372T>C) c.1249T>C (p.Trp417Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.113149431T>G | CA388794475 | F10 | c.1381T>G (p.Trp461Gly) c.*372T>G (n.*372T>G) c.1249T>G (p.Trp417Gly) | |
| 13 | g.113149431T= | CA2120140757 | F10 | c.1381T= (p.Trp461=) c.*372T= (n.*372T=) c.1249T= (p.Trp417=) | |
| 13 | g.113149432G>A | CA388794477 | F10 | c.1382G>A (p.Trp461Ter) c.*373G>A (n.*373G>A) c.1250G>A (p.Trp417Ter) | |
| 13 | g.113149432G>C | CA388794481 | F10 | c.1382G>C (p.Trp461Ser) c.*373G>C (n.*373G>C) c.1250G>C (p.Trp417Ser) | |
| 13 | g.113149432G>T | CA388794479 | F10 | c.1382G>T (p.Trp461Leu) c.*373G>T (n.*373G>T) c.1250G>T (p.Trp417Leu) | |
| 13 | g.113149433G>A | CA388794483 | F10 | c.1383G>A (p.Trp461Ter) c.*374G>A (n.*374G>A) c.1251G>A (p.Trp417Ter) | |
| 13 | g.113149433G>C | CA388794486 | F10 | c.1383G>C (p.Trp461Cys) c.*374G>C (n.*374G>C) c.1251G>C (p.Trp417Cys) | gnomAD v4 |
| 13 | g.113149433G>T | CA388794485 | F10 | c.1383G>T (p.Trp461Cys) c.*374G>T (n.*374G>T) c.1251G>T (p.Trp417Cys) | gnomAD v4 |
| 13 | g.113149434A>C | CA388794488 | F10 | c.1384A>C (p.Ile462Leu) c.*375A>C (n.*375A>C) c.1252A>C (p.Ile418Leu) | |
| 13 | g.113149434A>G | CA388794489 | F10 | c.1384A>G (p.Ile462Val) c.*375A>G (n.*375A>G) c.1252A>G (p.Ile418Val) | |
| 13 | g.113149434A>T | CA388794490 | F10 | c.1384A>T (p.Ile462Phe) c.*375A>T (n.*375A>T) c.1252A>T (p.Ile418Phe) | |
| 13 | g.113149435T>A | CA388794492 | F10 | c.1385T>A (p.Ile462Asn) c.*376T>A (n.*376T>A) c.1253T>A (p.Ile418Asn) | |
| 13 | g.113149435T>C | CA388794493 | F10 | c.1385T>C (p.Ile462Thr) c.*376T>C (n.*376T>C) c.1253T>C (p.Ile418Thr) | |
| 13 | g.113149435T>G | CA388794495 | F10 | c.1385T>G (p.Ile462Ser) c.*376T>G (n.*376T>G) c.1253T>G (p.Ile418Ser) | |
| 13 | g.113149436C>A | CA485425111 | F10 | c.1386C>A (p.Ile462=) c.*377C>A (n.*377C>A) c.1254C>A (p.Ile418=) | |
| 13 | g.113149436C= | CA2120140760 | F10 | c.1386C= (p.Ile462=) c.*377C= (n.*377C=) c.1254C= (p.Ile418=) | |
| 13 | g.113149436C>G | CA388794497 | F10 | c.1386C>G (p.Ile462Met) c.*377C>G (n.*377C>G) c.1254C>G (p.Ile418Met) | |
| 13 | g.113149436C>T | CA7060737 | F10 | c.1386C>T (p.Ile462=) c.*377C>T (n.*377C>T) c.1254C>T (p.Ile418=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.113149437G>A | CA388794500 | F10 | c.1387G>A (p.Asp463Asn) c.*378G>A (n.*378G>A) c.1255G>A (p.Asp419Asn) | dbSNP gnomAD v4 COSMIC |
| 13 | g.113149437G>C | CA388794502 | F10 | c.1387G>C (p.Asp463His) c.*378G>C (n.*378G>C) c.1255G>C (p.Asp419His) | ClinVar dbSNP |
| 13 | g.113149437G= | CA2120140763 | F10 | c.1387G= (p.Asp463=) c.*378G= (n.*378G=) c.1255G= (p.Asp419=) | |
| 13 | g.113149437G>T | CA388794504 | F10 | c.1387G>T (p.Asp463Tyr) c.*378G>T (n.*378G>T) c.1255G>T (p.Asp419Tyr) | gnomAD v4 |
| 13 | g.113149438A>C | CA388794506 | F10 | c.1388A>C (p.Asp463Ala) c.*379A>C (n.*379A>C) c.1256A>C (p.Asp419Ala) | |
| 13 | g.113149438A>G | CA388794509 | F10 | c.1388A>G (p.Asp463Gly) c.*379A>G (n.*379A>G) c.1256A>G (p.Asp419Gly) | |
| 13 | g.113149438A>T | CA388794507 | F10 | c.1388A>T (p.Asp463Val) c.*379A>T (n.*379A>T) c.1256A>T (p.Asp419Val) | gnomAD v4 |
| 13 | g.113149439C>A | CA388794510 | F10 | c.1389C>A (p.Asp463Glu) c.*380C>A (n.*380C>A) c.1257C>A (p.Asp419Glu) | COSMIC |
| 13 | g.113149439C>G | CA388794511 | F10 | c.1389C>G (p.Asp463Glu) c.*380C>G (n.*380C>G) c.1257C>G (p.Asp419Glu) | |
| 13 | g.113149439C>T | CA485425138 | F10 | c.1389C>T (p.Asp463=) c.*380C>T (n.*380C>T) c.1257C>T (p.Asp419=) | |
| 13 | g.113149440A>C | CA485425141 | F10 | c.1390A>C (p.Arg464=) c.*381A>C (n.*381A>C) c.1258A>C (p.Arg420=) | |
| 13 | g.113149440A>G | CA388794513 | F10 | c.1390A>G (p.Arg464Gly) c.*381A>G (n.*381A>G) c.1258A>G (p.Arg420Gly) | |
| 13 | g.113149440A>T | CA388794515 | F10 | c.1390A>T (p.Arg464Trp) c.*381A>T (n.*381A>T) c.1258A>T (p.Arg420Trp) | |
| 13 | g.113149441G>A | CA388794516 | F10 | c.1391G>A (p.Arg464Lys) c.*382G>A (n.*382G>A) c.1259G>A (p.Arg420Lys) | |
| 13 | g.113149441G>C | CA388794518 | F10 | c.1391G>C (p.Arg464Thr) c.*382G>C (n.*382G>C) c.1259G>C (p.Arg420Thr) | |
| 13 | g.113149441G>T | CA388794520 | F10 | c.1391G>T (p.Arg464Met) c.*382G>T (n.*382G>T) c.1259G>T (p.Arg420Met) | |
| 13 | g.113149442G>A | CA485425156 | F10 | c.1392G>A (p.Arg464=) c.*383G>A (n.*383G>A) c.1260G>A (p.Arg420=) | |
| 13 | g.113149442G>C | CA388794521 | F10 | c.1392G>C (p.Arg464Ser) c.*383G>C (n.*383G>C) c.1260G>C (p.Arg420Ser) | |
| 13 | g.113149442G>T | CA388794522 | F10 | c.1392G>T (p.Arg464Ser) c.*383G>T (n.*383G>T) c.1260G>T (p.Arg420Ser) | |
| 13 | g.113149443T>A | CA388794526 | F10 | c.1393T>A (p.Ser465Thr) c.*384T>A (n.*384T>A) c.1261T>A (p.Ser421Thr) | |
| 13 | g.113149443T>C | CA7060738 | F10 | c.1393T>C (p.Ser465Pro) c.*384T>C (n.*384T>C) c.1261T>C (p.Ser421Pro) | dbSNP ExAC gnomAD v2 |
| 13 | g.113149443T>G | CA388794525 | F10 | c.1393T>G (p.Ser465Ala) c.*384T>G (n.*384T>G) c.1261T>G (p.Ser421Ala) | |
| 13 | g.113149443T= | CA2120140768 | F10 | c.1393T= (p.Ser465=) c.*384T= (n.*384T=) c.1261T= (p.Ser421=) | |
| 13 | g.113149444C>A | CA388794528 | F10 | c.1394C>A (p.Ser465Tyr) c.*385C>A (n.*385C>A) c.1262C>A (p.Ser421Tyr) | |
| 13 | g.113149444C>G | CA388794529 | F10 | c.1394C>G (p.Ser465Cys) c.*385C>G (n.*385C>G) c.1262C>G (p.Ser421Cys) | |
| 13 | g.113149444C>T | CA388794531 | F10 | c.1394C>T (p.Ser465Phe) c.*385C>T (n.*385C>T) c.1262C>T (p.Ser421Phe) |