UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133436777_133436906del | CA2692369326 | ADAMTS13 | c.1309-52_1386del c.1216-52_1293del c.565-52_642del c.*113-52_*190del n.974-2589_974-2460del c.*593-52_*670del n.993-2589_993-2460del c.919-52_996del c.325-52_402del c.319-52_396del c.-27-52_51del c.95-52_172del c.687-8086_687-7957del (n.687-8086_687-7957del) c.1297-52_1374del n.2534-52_2611del n.995-2589_995-2460del | gnomAD v4 |
| 9 | g.133436777_133436928del | CA2692369329 | ADAMTS13 | c.1309-52_1408del c.1216-52_1315del c.565-52_664del c.*113-52_*212del n.974-2589_974-2438del c.*593-52_*692del n.993-2589_993-2438del c.919-52_1018del c.325-52_424del c.319-52_418del c.-27-52_73del c.95-52_194del c.687-8086_687-7935del (n.687-8086_687-7935del) c.1297-52_1396del n.2534-52_2633del n.995-2589_995-2438del | gnomAD v4 |
| 9 | g.133436825_133436906del | CA2692370883 | ADAMTS13 | c.1309-4_1386del c.1216-4_1293del c.565-4_642del c.*113-4_*190del n.974-2541_974-2460del c.*593-4_*670del n.993-2541_993-2460del c.919-4_996del c.325-4_402del c.319-4_396del c.-27-4_51del c.95-4_172del c.687-8038_687-7957del (n.687-8038_687-7957del) c.1297-4_1374del n.2534-4_2611del n.995-2541_995-2460del | gnomAD v4 |
| 9 | g.133436830_133436848del | CA2692370906 | ADAMTS13 | c.1310_1328del (p.Ala437GlyfsTer?) c.1217_1235del (p.Ala406GlyfsTer?) c.566_584del (p.Ala189GlyfsTer?) c.*114_*132del (n.*114_*132del) n.974-2536_974-2518del c.*594_*612del (n.*594_*612del) n.993-2536_993-2518del c.920_938del (p.Ala307GlyfsTer?) c.326_344del (p.Ala109GlyfsTer?) c.320_338del (p.Ala107GlyfsTer?) c.-26_-8del (n.-26_-8del) c.96_114del (p.Leu33GlufsTer?) c.687-8033_687-8015del (n.687-8033_687-8015del) c.1298_1316del (p.Ala433GlyfsTer?) n.2535_2553del n.995-2536_995-2518del | gnomAD v4 |
| 9 | g.133436830_133436906del | CA2692370907 | ADAMTS13 | c.1310_1386del (p.Ala437GlyfsTer?) c.1217_1293del (p.Ala406GlyfsTer?) c.566_642del (p.Ala189GlyfsTer?) c.*114_*190del (n.*114_*190del) n.974-2536_974-2460del c.*594_*670del (n.*594_*670del) n.993-2536_993-2460del c.920_996del (p.Ala307GlyfsTer?) c.326_402del (p.Ala109GlyfsTer?) c.320_396del (p.Ala107GlyfsTer?) c.-26_51del c.96_172del (p.Leu33AlafsTer?) c.687-8033_687-7957del (n.687-8033_687-7957del) c.1298_1374del (p.Ala433GlyfsTer?) n.2535_2611del n.995-2536_995-2460del | gnomAD v4 |
| 9 | g.133436830_133436928del | CA2692370909 | ADAMTS13 | c.1310_1408del (p.Ala437_Trp470delinsGly) c.1217_1315del (p.Ala406_Trp439delinsGly) c.566_664del (p.Ala189_Trp222delinsGly) c.*114_*212del (n.*114_*212del) n.974-2536_974-2438del c.*594_*692del (n.*594_*692del) n.993-2536_993-2438del c.920_1018del (p.Ala307_Trp340delinsGly) c.326_424del (p.Ala109_Trp142delinsGly) c.320_418del (p.Ala107_Trp140delinsGly) c.-26_73del c.96_194del (p.Leu33_Leu65del) c.687-8033_687-7935del (n.687-8033_687-7935del) c.1298_1396del (p.Ala433_Trp466delinsGly) n.2535_2633del n.995-2536_995-2438del | gnomAD v4 |
| 9 | g.133436838_133436845del | CA2692370959 | ADAMTS13 | c.1318_1325del (p.Lys440AlafsTer?) c.1225_1232del (p.Lys409AlafsTer?) c.574_581del (p.Lys192AlafsTer?) c.*122_*129del (n.*122_*129del) n.974-2528_974-2521del c.*602_*609del (n.*602_*609del) n.993-2528_993-2521del c.928_935del (p.Lys310AlafsTer?) c.334_341del (p.Lys112AlafsTer?) c.328_335del (p.Lys110AlafsTer?) c.-18_-11del (n.-18_-11del) c.104_111del (p.Glu35GlyfsTer?) c.687-8025_687-8018del (n.687-8025_687-8018del) c.1306_1313del (p.Lys436AlafsTer?) n.2543_2550del n.995-2528_995-2521del | gnomAD v4 |
| 9 | g.133436838_133436848del | CA2562871574 | ADAMTS13 | c.1318_1328del (p.Lys440GlyfsTer?) c.1225_1235del (p.Lys409GlyfsTer?) c.574_584del (p.Lys192GlyfsTer?) c.*122_*132del (n.*122_*132del) n.974-2528_974-2518del c.*602_*612del (n.*602_*612del) n.993-2528_993-2518del c.928_938del (p.Lys310GlyfsTer?) c.334_344del (p.Lys112GlyfsTer?) c.328_338del (p.Lys110GlyfsTer?) c.-18_-8del (n.-18_-8del) c.104_114del (p.Glu35GlyfsTer?) c.687-8025_687-8015del (n.687-8025_687-8015del) c.1306_1316del (p.Lys436GlyfsTer?) n.2543_2553del n.995-2528_995-2518del | gnomAD v4 |
| 9 | g.133436841_133436845del | CA2786169599 | ADAMTS13 | c.1321_1325del (p.Thr441AlafsTer?) c.1228_1232del (p.Thr410AlafsTer?) c.577_581del (p.Thr193AlafsTer?) c.*125_*129del (n.*125_*129del) n.974-2525_974-2521del c.*605_*609del (n.*605_*609del) n.993-2525_993-2521del c.931_935del (p.Thr311AlafsTer?) c.337_341del (p.Thr113AlafsTer?) c.331_335del (p.Thr111AlafsTer?) c.-15_-11del (n.-15_-11del) c.107_111del (p.Asp36GlyfsTer?) c.687-8022_687-8018del (n.687-8022_687-8018del) c.1309_1313del (p.Thr437AlafsTer?) n.2546_2550del n.995-2525_995-2521del | |
| 9 | g.133436844del | CA2692370971 | ADAMTS13 | c.1324del (p.Gln442SerfsTer?) c.1231del (p.Gln411SerfsTer?) c.580del (p.Gln194SerfsTer?) c.*128del (n.*128del) n.974-2522del c.*608del (n.*608del) n.993-2522del c.934del (p.Gln312SerfsTer?) c.340del (p.Gln114SerfsTer?) c.334del (p.Gln112SerfsTer?) c.-12del (n.-12del) c.110del (p.Pro37GlnfsTer?) c.687-8019del (n.687-8019del) c.1312del (p.Gln438SerfsTer?) n.2549del n.995-2522del | gnomAD v4 |
| 9 | g.133436843C>A | CA2692370978 | ADAMTS13 | c.1323C>A (p.Thr441=) c.1230C>A (p.Thr410=) c.579C>A (p.Thr193=) c.*127C>A (n.*127C>A) n.974-2523C>A c.*607C>A (n.*607C>A) n.993-2523C>A c.933C>A (p.Thr311=) c.339C>A (p.Thr113=) c.333C>A (p.Thr111=) c.-13C>A (n.-13C>A) c.109C>A (p.Pro37Thr) c.687-8020C>A (n.687-8020C>A) c.1311C>A (p.Thr437=) n.2548C>A n.995-2523C>A | gnomAD v4 |
| 9 | g.133436843C= | CA1882673111 | ADAMTS13 | c.1323C= (p.Thr441=) c.1230C= (p.Thr410=) c.579C= (p.Thr193=) c.*127C= (n.*127C=) n.974-2523C= c.*607C= (n.*607C=) n.993-2523C= c.933C= (p.Thr311=) c.339C= (p.Thr113=) c.333C= (p.Thr111=) c.-13C= (n.-13C=) c.109C= (p.Pro37=) c.687-8020C= (n.687-8020C=) c.1311C= (p.Thr437=) n.2548C= n.995-2523C= | |
| 9 | g.133436843C>G | CA1882673112 | ADAMTS13 | c.1323C>G (p.Thr441=) c.1230C>G (p.Thr410=) c.579C>G (p.Thr193=) c.*127C>G (n.*127C>G) n.974-2523C>G c.*607C>G (n.*607C>G) n.993-2523C>G c.933C>G (p.Thr311=) c.339C>G (p.Thr113=) c.333C>G (p.Thr111=) c.-13C>G (n.-13C>G) c.109C>G (p.Pro37Ala) c.687-8020C>G (n.687-8020C>G) c.1311C>G (p.Thr437=) n.2548C>G n.995-2523C>G | dbSNP |
| 9 | g.133436843C>T | CA860755470 | ADAMTS13 | c.1323C>T (p.Thr441=) c.1230C>T (p.Thr410=) c.579C>T (p.Thr193=) c.*127C>T (n.*127C>T) n.974-2523C>T c.*607C>T (n.*607C>T) n.993-2523C>T c.933C>T (p.Thr311=) c.339C>T (p.Thr113=) c.333C>T (p.Thr111=) c.-13C>T (n.-13C>T) c.109C>T (p.Pro37Ser) c.687-8020C>T (n.687-8020C>T) c.1311C>T (p.Thr437=) n.2548C>T n.995-2523C>T | dbSNP gnomAD v4 |
| 9 | g.133436844C>A | CA375391457 | ADAMTS13 | c.1324C>A (p.Gln442Lys) c.1231C>A (p.Gln411Lys) c.580C>A (p.Gln194Lys) c.*128C>A (n.*128C>A) n.974-2522C>A c.*608C>A (n.*608C>A) n.993-2522C>A c.934C>A (p.Gln312Lys) c.340C>A (p.Gln114Lys) c.334C>A (p.Gln112Lys) c.-12C>A (n.-12C>A) c.110C>A (p.Pro37Gln) c.687-8019C>A (n.687-8019C>A) c.1312C>A (p.Gln438Lys) n.2549C>A n.995-2522C>A | gnomAD v4 |
| 9 | g.133436844C>G | CA375391458 | ADAMTS13 | c.1324C>G (p.Gln442Glu) c.1231C>G (p.Gln411Glu) c.580C>G (p.Gln194Glu) c.*128C>G (n.*128C>G) n.974-2522C>G c.*608C>G (n.*608C>G) n.993-2522C>G c.934C>G (p.Gln312Glu) c.340C>G (p.Gln114Glu) c.334C>G (p.Gln112Glu) c.-12C>G (n.-12C>G) c.110C>G (p.Pro37Arg) c.687-8019C>G (n.687-8019C>G) c.1312C>G (p.Gln438Glu) n.2549C>G n.995-2522C>G | |
| 9 | g.133436844C>T | CA375391460 | ADAMTS13 | c.1324C>T (p.Gln442Ter) c.1231C>T (p.Gln411Ter) c.580C>T (p.Gln194Ter) c.*128C>T (n.*128C>T) n.974-2522C>T c.*608C>T (n.*608C>T) n.993-2522C>T c.934C>T (p.Gln312Ter) c.340C>T (p.Gln114Ter) c.334C>T (p.Gln112Ter) c.-12C>T (n.-12C>T) c.110C>T (p.Pro37Leu) c.687-8019C>T (n.687-8019C>T) c.1312C>T (p.Gln438Ter) n.2549C>T n.995-2522C>T | |
| 9 | g.133436845A>C | CA375391466 | ADAMTS13 | c.1325A>C (p.Gln442Pro) c.1232A>C (p.Gln411Pro) c.581A>C (p.Gln194Pro) c.*129A>C (n.*129A>C) n.974-2521A>C c.*609A>C (n.*609A>C) n.993-2521A>C c.935A>C (p.Gln312Pro) c.341A>C (p.Gln114Pro) c.335A>C (p.Gln112Pro) c.-11A>C (n.-11A>C) c.111A>C (p.Pro37=) c.687-8018A>C (n.687-8018A>C) c.1313A>C (p.Gln438Pro) n.2550A>C n.995-2521A>C | |
| 9 | g.133436845A>G | CA375391465 | ADAMTS13 | c.1325A>G (p.Gln442Arg) c.1232A>G (p.Gln411Arg) c.581A>G (p.Gln194Arg) c.*129A>G (n.*129A>G) n.974-2521A>G c.*609A>G (n.*609A>G) n.993-2521A>G c.935A>G (p.Gln312Arg) c.341A>G (p.Gln114Arg) c.335A>G (p.Gln112Arg) c.-11A>G (n.-11A>G) c.111A>G (p.Pro37=) c.687-8018A>G (n.687-8018A>G) c.1313A>G (p.Gln438Arg) n.2550A>G n.995-2521A>G | gnomAD v4 |
| 9 | g.133436845A>T | CA375391463 | ADAMTS13 | c.1325A>T (p.Gln442Leu) c.1232A>T (p.Gln411Leu) c.581A>T (p.Gln194Leu) c.*129A>T (n.*129A>T) n.974-2521A>T c.*609A>T (n.*609A>T) n.993-2521A>T c.935A>T (p.Gln312Leu) c.341A>T (p.Gln114Leu) c.335A>T (p.Gln112Leu) c.-11A>T (n.-11A>T) c.111A>T (p.Pro37=) c.687-8018A>T (n.687-8018A>T) c.1313A>T (p.Gln438Leu) n.2550A>T n.995-2521A>T | |
| 9 | g.133436846G>A | CA2692370988 | ADAMTS13 | c.1326G>A (p.Gln442=) c.1233G>A (p.Gln411=) c.582G>A (p.Gln194=) c.*130G>A (n.*130G>A) n.974-2520G>A c.*610G>A (n.*610G>A) n.993-2520G>A c.936G>A (p.Gln312=) c.342G>A (p.Gln114=) c.336G>A (p.Gln112=) c.-10G>A (n.-10G>A) c.112G>A (p.Ala38Thr) c.687-8017G>A (n.687-8017G>A) c.1314G>A (p.Gln438=) n.2551G>A n.995-2520G>A | gnomAD v4 |
| 9 | g.133436846G>C | CA375391469 | ADAMTS13 | c.1326G>C (p.Gln442His) c.1233G>C (p.Gln411His) c.582G>C (p.Gln194His) c.*130G>C (n.*130G>C) n.974-2520G>C c.*610G>C (n.*610G>C) n.993-2520G>C c.936G>C (p.Gln312His) c.342G>C (p.Gln114His) c.336G>C (p.Gln112His) c.-10G>C (n.-10G>C) c.112G>C (p.Ala38Pro) c.687-8017G>C (n.687-8017G>C) c.1314G>C (p.Gln438His) n.2551G>C n.995-2520G>C | dbSNP |
| 9 | g.133436846G= | CA1882673113 | ADAMTS13 | c.1326G= (p.Gln442=) c.1233G= (p.Gln411=) c.582G= (p.Gln194=) c.*130G= (n.*130G=) n.974-2520G= c.*610G= (n.*610G=) n.993-2520G= c.936G= (p.Gln312=) c.342G= (p.Gln114=) c.336G= (p.Gln112=) c.-10G= (n.-10G=) c.112G= (p.Ala38=) c.687-8017G= (n.687-8017G=) c.1314G= (p.Gln438=) n.2551G= n.995-2520G= | |
| 9 | g.133436846G>T | CA375391471 | ADAMTS13 | c.1326G>T (p.Gln442His) c.1233G>T (p.Gln411His) c.582G>T (p.Gln194His) c.*130G>T (n.*130G>T) n.974-2520G>T c.*610G>T (n.*610G>T) n.993-2520G>T c.936G>T (p.Gln312His) c.342G>T (p.Gln114His) c.336G>T (p.Gln112His) c.-10G>T (n.-10G>T) c.112G>T (p.Ala38Ser) c.687-8017G>T (n.687-8017G>T) c.1314G>T (p.Gln438His) n.2551G>T n.995-2520G>T | gnomAD v4 |
| 9 | g.133436847C>A | CA200929547 | ADAMTS13 | c.1327C>A (p.Leu443Met) c.1234C>A (p.Leu412Met) c.583C>A (p.Leu195Met) c.*131C>A (n.*131C>A) n.974-2519C>A c.*611C>A (n.*611C>A) n.993-2519C>A c.937C>A (p.Leu313Met) c.343C>A (p.Leu115Met) c.337C>A (p.Leu113Met) c.-9C>A (n.-9C>A) c.113C>A (p.Ala38Asp) c.687-8016C>A (n.687-8016C>A) c.1315C>A (p.Leu439Met) n.2552C>A n.995-2519C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436847C= | CA1882673114 | ADAMTS13 | c.1327C= (p.Leu443=) c.1234C= (p.Leu412=) c.583C= (p.Leu195=) c.*131C= (n.*131C=) n.974-2519C= c.*611C= (n.*611C=) n.993-2519C= c.937C= (p.Leu313=) c.343C= (p.Leu115=) c.337C= (p.Leu113=) c.-9C= (n.-9C=) c.113C= (p.Ala38=) c.687-8016C= (n.687-8016C=) c.1315C= (p.Leu439=) n.2552C= n.995-2519C= | |
| 9 | g.133436847C>G | CA375391474 | ADAMTS13 | c.1327C>G (p.Leu443Val) c.1234C>G (p.Leu412Val) c.583C>G (p.Leu195Val) c.*131C>G (n.*131C>G) n.974-2519C>G c.*611C>G (n.*611C>G) n.993-2519C>G c.937C>G (p.Leu313Val) c.343C>G (p.Leu115Val) c.337C>G (p.Leu113Val) c.-9C>G (n.-9C>G) c.113C>G (p.Ala38Gly) c.687-8016C>G (n.687-8016C>G) c.1315C>G (p.Leu439Val) n.2552C>G n.995-2519C>G | gnomAD v4 |
| 9 | g.133436847C>T | CA2692370998 | ADAMTS13 | c.1327C>T (p.Leu443=) c.1234C>T (p.Leu412=) c.583C>T (p.Leu195=) c.*131C>T (n.*131C>T) n.974-2519C>T c.*611C>T (n.*611C>T) n.993-2519C>T c.937C>T (p.Leu313=) c.343C>T (p.Leu115=) c.337C>T (p.Leu113=) c.-9C>T (n.-9C>T) c.113C>T (p.Ala38Val) c.687-8016C>T (n.687-8016C>T) c.1315C>T (p.Leu439=) n.2552C>T n.995-2519C>T | gnomAD v4 |
| 9 | g.133436848T>A | CA375391476 | ADAMTS13 | c.1328T>A (p.Leu443Gln) c.1235T>A (p.Leu412Gln) c.584T>A (p.Leu195Gln) c.*132T>A (n.*132T>A) n.974-2518T>A c.*612T>A (n.*612T>A) n.993-2518T>A c.938T>A (p.Leu313Gln) c.344T>A (p.Leu115Gln) c.338T>A (p.Leu113Gln) c.-8T>A (n.-8T>A) c.114T>A (p.Ala38=) c.687-8015T>A (n.687-8015T>A) c.1316T>A (p.Leu439Gln) n.2553T>A n.995-2518T>A | |
| 9 | g.133436848T>C | CA375391478 | ADAMTS13 | c.1328T>C (p.Leu443Pro) c.1235T>C (p.Leu412Pro) c.584T>C (p.Leu195Pro) c.*132T>C (n.*132T>C) n.974-2518T>C c.*612T>C (n.*612T>C) n.993-2518T>C c.938T>C (p.Leu313Pro) c.344T>C (p.Leu115Pro) c.338T>C (p.Leu113Pro) c.-8T>C (n.-8T>C) c.114T>C (p.Ala38=) c.687-8015T>C (n.687-8015T>C) c.1316T>C (p.Leu439Pro) n.2553T>C n.995-2518T>C | gnomAD v4 |
| 9 | g.133436848T>G | CA375391480 | ADAMTS13 | c.1328T>G (p.Leu443Arg) c.1235T>G (p.Leu412Arg) c.584T>G (p.Leu195Arg) c.*132T>G (n.*132T>G) n.974-2518T>G c.*612T>G (n.*612T>G) n.993-2518T>G c.938T>G (p.Leu313Arg) c.344T>G (p.Leu115Arg) c.338T>G (p.Leu113Arg) c.-8T>G (n.-8T>G) c.114T>G (p.Ala38=) c.687-8015T>G (n.687-8015T>G) c.1316T>G (p.Leu439Arg) n.2553T>G n.995-2518T>G | gnomAD v4 |
| 9 | g.133436849G>A | CA2692371003 | ADAMTS13 | c.1329G>A (p.Leu443=) c.1236G>A (p.Leu412=) c.585G>A (p.Leu195=) c.*133G>A (n.*133G>A) n.974-2517G>A c.*613G>A (n.*613G>A) n.993-2517G>A c.939G>A (p.Leu313=) c.345G>A (p.Leu115=) c.339G>A (p.Leu113=) c.-7G>A (n.-7G>A) c.115G>A (p.Gly39Arg) c.687-8014G>A (n.687-8014G>A) c.1317G>A (p.Leu439=) n.2554G>A n.995-2517G>A | gnomAD v4 |
| 9 | g.133436849G>T | CA2692371005 | ADAMTS13 | c.1329G>T (p.Leu443=) c.1236G>T (p.Leu412=) c.585G>T (p.Leu195=) c.*133G>T (n.*133G>T) n.974-2517G>T c.*613G>T (n.*613G>T) n.993-2517G>T c.939G>T (p.Leu313=) c.345G>T (p.Leu115=) c.339G>T (p.Leu113=) c.-7G>T (n.-7G>T) c.115G>T (p.Gly39Ter) c.687-8014G>T (n.687-8014G>T) c.1317G>T (p.Leu439=) n.2554G>T n.995-2517G>T | gnomAD v4 |
| 9 | g.133436850G>A | CA375391482 | ADAMTS13 | c.1330G>A (p.Glu444Lys) c.1237G>A (p.Glu413Lys) c.586G>A (p.Glu196Lys) c.*134G>A (n.*134G>A) n.974-2516G>A c.*614G>A (n.*614G>A) n.993-2516G>A c.940G>A (p.Glu314Lys) c.346G>A (p.Glu116Lys) c.340G>A (p.Glu114Lys) c.-6G>A (n.-6G>A) c.116G>A (p.Gly39Glu) c.687-8013G>A (n.687-8013G>A) c.1318G>A (p.Glu440Lys) n.2555G>A n.995-2516G>A | dbSNP gnomAD v4 |
| 9 | g.133436850G>C | CA375391484 | ADAMTS13 | c.1330G>C (p.Glu444Gln) c.1237G>C (p.Glu413Gln) c.586G>C (p.Glu196Gln) c.*134G>C (n.*134G>C) n.974-2516G>C c.*614G>C (n.*614G>C) n.993-2516G>C c.940G>C (p.Glu314Gln) c.346G>C (p.Glu116Gln) c.340G>C (p.Glu114Gln) c.-6G>C (n.-6G>C) c.116G>C (p.Gly39Ala) c.687-8013G>C (n.687-8013G>C) c.1318G>C (p.Glu440Gln) n.2555G>C n.995-2516G>C | gnomAD v4 |
| 9 | g.133436850G= | CA1882673115 | ADAMTS13 | c.1330G= (p.Glu444=) c.1237G= (p.Glu413=) c.586G= (p.Glu196=) c.*134G= (n.*134G=) n.974-2516G= c.*614G= (n.*614G=) n.993-2516G= c.940G= (p.Glu314=) c.346G= (p.Glu116=) c.340G= (p.Glu114=) c.-6G= (n.-6G=) c.116G= (p.Gly39=) c.687-8013G= (n.687-8013G=) c.1318G= (p.Glu440=) n.2555G= n.995-2516G= | |
| 9 | g.133436850G>T | CA200929553 | ADAMTS13 | c.1330G>T (p.Glu444Ter) c.1237G>T (p.Glu413Ter) c.586G>T (p.Glu196Ter) c.*134G>T (n.*134G>T) n.974-2516G>T c.*614G>T (n.*614G>T) n.993-2516G>T c.940G>T (p.Glu314Ter) c.346G>T (p.Glu116Ter) c.340G>T (p.Glu114Ter) c.-6G>T (n.-6G>T) c.116G>T (p.Gly39Val) c.687-8013G>T (n.687-8013G>T) c.1318G>T (p.Glu440Ter) n.2555G>T n.995-2516G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436851_133436852del | CA2692371009 | ADAMTS13 | c.1331_1332del (p.Glu444ValfsTer?) c.1238_1239del (p.Glu413ValfsTer?) c.587_588del (p.Glu196ValfsTer?) c.*135_*136del (n.*135_*136del) n.974-2515_974-2514del c.*615_*616del (n.*615_*616del) n.993-2515_993-2514del c.941_942del (p.Glu314ValfsTer?) c.347_348del (p.Glu116ValfsTer?) c.341_342del (p.Glu114ValfsTer?) c.-5_-4del (n.-5_-4del) c.117_118del (p.Val40SerfsTer?) c.687-8012_687-8011del (n.687-8012_687-8011del) c.1319_1320del (p.Glu440ValfsTer?) n.2556_2557del n.995-2515_995-2514del | gnomAD v4 |
| 9 | g.133436851A= | CA1882673116 | ADAMTS13 | c.1331A= (p.Glu444=) c.1238A= (p.Glu413=) c.587A= (p.Glu196=) c.*135A= (n.*135A=) n.974-2515A= c.*615A= (n.*615A=) n.993-2515A= c.941A= (p.Glu314=) c.347A= (p.Glu116=) c.341A= (p.Glu114=) c.-5A= (n.-5A=) c.117A= (p.Gly39=) c.687-8012A= (n.687-8012A=) c.1319A= (p.Glu440=) n.2556A= n.995-2515A= | |
| 9 | g.133436851A>C | CA375391485 | ADAMTS13 | c.1331A>C (p.Glu444Ala) c.1238A>C (p.Glu413Ala) c.587A>C (p.Glu196Ala) c.*135A>C (n.*135A>C) n.974-2515A>C c.*615A>C (n.*615A>C) n.993-2515A>C c.941A>C (p.Glu314Ala) c.347A>C (p.Glu116Ala) c.341A>C (p.Glu114Ala) c.-5A>C (n.-5A>C) c.117A>C (p.Gly39=) c.687-8012A>C (n.687-8012A>C) c.1319A>C (p.Glu440Ala) n.2556A>C n.995-2515A>C | |
| 9 | g.133436851A>G | CA375391488 | ADAMTS13 | c.1331A>G (p.Glu444Gly) c.1238A>G (p.Glu413Gly) c.587A>G (p.Glu196Gly) c.*135A>G (n.*135A>G) n.974-2515A>G c.*615A>G (n.*615A>G) n.993-2515A>G c.941A>G (p.Glu314Gly) c.347A>G (p.Glu116Gly) c.341A>G (p.Glu114Gly) c.-5A>G (n.-5A>G) c.117A>G (p.Gly39=) c.687-8012A>G (n.687-8012A>G) c.1319A>G (p.Glu440Gly) n.2556A>G n.995-2515A>G | gnomAD v4 |
| 9 | g.133436851A>T | CA375391489 | ADAMTS13 | c.1331A>T (p.Glu444Val) c.1238A>T (p.Glu413Val) c.587A>T (p.Glu196Val) c.*135A>T (n.*135A>T) n.974-2515A>T c.*615A>T (n.*615A>T) n.993-2515A>T c.941A>T (p.Glu314Val) c.347A>T (p.Glu116Val) c.341A>T (p.Glu114Val) c.-5A>T (n.-5A>T) c.117A>T (p.Gly39=) c.687-8012A>T (n.687-8012A>T) c.1319A>T (p.Glu440Val) n.2556A>T n.995-2515A>T | dbSNP gnomAD v4 |
| 9 | g.133436851_133436874del | CA2692371013 | ADAMTS13 | c.1331_1354del (p.Glu444_Arg452delinsGly) c.1238_1261del (p.Glu413_Arg421delinsGly) c.587_610del (p.Glu196_Arg204delinsGly) c.*135_*158del (n.*135_*158del) n.974-2515_974-2492del c.*615_*638del (n.*615_*638del) n.993-2515_993-2492del c.941_964del (p.Glu314_Arg322delinsGly) c.347_370del (p.Glu116_Arg124delinsGly) c.341_364del (p.Glu114_Arg122delinsGly) c.-5_19del c.117_140del (p.Val40_Gln47del) c.687-8012_687-7989del (n.687-8012_687-7989del) c.1319_1342del (p.Glu440_Arg448delinsGly) n.2556_2579del n.995-2515_995-2492del | gnomAD v4 |
| 9 | g.133436852G>C | CA375391494 | ADAMTS13 | c.1332G>C (p.Glu444Asp) c.1239G>C (p.Glu413Asp) c.588G>C (p.Glu196Asp) c.*136G>C (n.*136G>C) n.974-2514G>C c.*616G>C (n.*616G>C) n.993-2514G>C c.942G>C (p.Glu314Asp) c.348G>C (p.Glu116Asp) c.342G>C (p.Glu114Asp) c.-4G>C (n.-4G>C) c.118G>C (p.Val40Leu) c.687-8011G>C (n.687-8011G>C) c.1320G>C (p.Glu440Asp) n.2557G>C n.995-2514G>C | |
| 9 | g.133436852G>T | CA375391492 | ADAMTS13 | c.1332G>T (p.Glu444Asp) c.1239G>T (p.Glu413Asp) c.588G>T (p.Glu196Asp) c.*136G>T (n.*136G>T) n.974-2514G>T c.*616G>T (n.*616G>T) n.993-2514G>T c.942G>T (p.Glu314Asp) c.348G>T (p.Glu116Asp) c.342G>T (p.Glu114Asp) c.-4G>T (n.-4G>T) c.118G>T (p.Val40Phe) c.687-8011G>T (n.687-8011G>T) c.1320G>T (p.Glu440Asp) n.2557G>T n.995-2514G>T | gnomAD v4 |
| 9 | g.133436853T>A | CA375391496 | ADAMTS13 | c.1333T>A (p.Phe445Ile) c.1240T>A (p.Phe414Ile) c.589T>A (p.Phe197Ile) c.*137T>A (n.*137T>A) n.974-2513T>A c.*617T>A (n.*617T>A) n.993-2513T>A c.943T>A (p.Phe315Ile) c.349T>A (p.Phe117Ile) c.343T>A (p.Phe115Ile) c.-3T>A (n.-3T>A) c.119T>A (p.Val40Asp) c.687-8010T>A (n.687-8010T>A) c.1321T>A (p.Phe441Ile) n.2558T>A n.995-2513T>A | |
| 9 | g.133436853T>C | CA375391498 | ADAMTS13 | c.1333T>C (p.Phe445Leu) c.1240T>C (p.Phe414Leu) c.589T>C (p.Phe197Leu) c.*137T>C (n.*137T>C) n.974-2513T>C c.*617T>C (n.*617T>C) n.993-2513T>C c.943T>C (p.Phe315Leu) c.349T>C (p.Phe117Leu) c.343T>C (p.Phe115Leu) c.-3T>C (n.-3T>C) c.119T>C (p.Val40Ala) c.687-8010T>C (n.687-8010T>C) c.1321T>C (p.Phe441Leu) n.2558T>C n.995-2513T>C | dbSNP gnomAD v4 |
| 9 | g.133436853T>G | CA200929558 | ADAMTS13 | c.1333T>G (p.Phe445Val) c.1240T>G (p.Phe414Val) c.589T>G (p.Phe197Val) c.*137T>G (n.*137T>G) n.974-2513T>G c.*617T>G (n.*617T>G) n.993-2513T>G c.943T>G (p.Phe315Val) c.349T>G (p.Phe117Val) c.343T>G (p.Phe115Val) c.-3T>G (n.-3T>G) c.119T>G (p.Val40Gly) c.687-8010T>G (n.687-8010T>G) c.1321T>G (p.Phe441Val) n.2558T>G n.995-2513T>G | dbSNP gnomAD v4 |
| 9 | g.133436853T= | CA1882673117 | ADAMTS13 | c.1333T= (p.Phe445=) c.1240T= (p.Phe414=) c.589T= (p.Phe197=) c.*137T= (n.*137T=) n.974-2513T= c.*617T= (n.*617T=) n.993-2513T= c.943T= (p.Phe315=) c.349T= (p.Phe117=) c.343T= (p.Phe115=) c.-3T= (n.-3T=) c.119T= (p.Val40=) c.687-8010T= (n.687-8010T=) c.1321T= (p.Phe441=) n.2558T= n.995-2513T= | |
| 9 | g.133436853_133436866del | CA2692371023 | ADAMTS13 | c.1333_1346del (p.Phe445ValfsTer?) c.1240_1253del (p.Phe414ValfsTer?) c.589_602del (p.Phe197ValfsTer?) c.*137_*150del (n.*137_*150del) n.974-2513_974-2500del c.*617_*630del (n.*617_*630del) n.993-2513_993-2500del c.943_956del (p.Phe315ValfsTer?) c.349_362del (p.Phe117ValfsTer?) c.343_356del (p.Phe115ValfsTer?) c.-3_11del c.119_132del (p.Val40GlyfsTer?) c.687-8010_687-7997del (n.687-8010_687-7997del) c.1321_1334del (p.Phe441ValfsTer?) n.2558_2571del n.995-2513_995-2500del | gnomAD v4 |