WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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_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.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.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 |
| 9 | g.133436853_133436874del | CA2573050850 | ADAMTS13 | c.1333_1354del (p.Phe445GlyfsTer?) c.1240_1261del (p.Phe414GlyfsTer?) c.589_610del (p.Phe197GlyfsTer?) c.*137_*158del (n.*137_*158del) n.974-2513_974-2492del c.*617_*638del (n.*617_*638del) n.993-2513_993-2492del c.943_964del (p.Phe315GlyfsTer?) c.349_370del (p.Phe117GlyfsTer?) c.343_364del (p.Phe115GlyfsTer?) c.-3_19del c.119_140del (p.Val40GlyfsTer?) c.687-8010_687-7989del (n.687-8010_687-7989del) c.1321_1342del (p.Phe441GlyfsTer?) n.2558_2579del n.995-2513_995-2492del | gnomAD v4 |
| 9 | g.133436865C>A | CA375391552 | ADAMTS13 | c.1345C>A (p.Gln449Lys) c.1252C>A (p.Gln418Lys) c.601C>A (p.Gln201Lys) c.*149C>A (n.*149C>A) n.974-2501C>A c.*629C>A (n.*629C>A) n.993-2501C>A c.955C>A (p.Gln319Lys) c.361C>A (p.Gln121Lys) c.355C>A (p.Gln119Lys) c.10C>A (p.Gln4Lys) c.131C>A (p.Thr44Lys) c.687-7998C>A (n.687-7998C>A) c.1333C>A (p.Gln445Lys) n.2570C>A n.995-2501C>A | gnomAD v4 |
| 9 | g.133436865C= | CA1882673126 | ADAMTS13 | c.1345C= (p.Gln449=) c.1252C= (p.Gln418=) c.601C= (p.Gln201=) c.*149C= (n.*149C=) n.974-2501C= c.*629C= (n.*629C=) n.993-2501C= c.955C= (p.Gln319=) c.361C= (p.Gln121=) c.355C= (p.Gln119=) c.10C= (p.Gln4=) c.131C= (p.Thr44=) c.687-7998C= (n.687-7998C=) c.1333C= (p.Gln445=) n.2570C= n.995-2501C= | |
| 9 | g.133436865C>G | CA375391554 | ADAMTS13 | c.1345C>G (p.Gln449Glu) c.1252C>G (p.Gln418Glu) c.601C>G (p.Gln201Glu) c.*149C>G (n.*149C>G) n.974-2501C>G c.*629C>G (n.*629C>G) n.993-2501C>G c.955C>G (p.Gln319Glu) c.361C>G (p.Gln121Glu) c.355C>G (p.Gln119Glu) c.10C>G (p.Gln4Glu) c.131C>G (p.Thr44Arg) c.687-7998C>G (n.687-7998C>G) c.1333C>G (p.Gln445Glu) n.2570C>G n.995-2501C>G | dbSNP gnomAD v4 |
| 9 | g.133436865C>T | CA117772 | ADAMTS13 | c.1345C>T (p.Gln449Ter) c.1252C>T (p.Gln418Ter) c.601C>T (p.Gln201Ter) c.*149C>T (n.*149C>T) n.974-2501C>T c.*629C>T (n.*629C>T) n.993-2501C>T c.955C>T (p.Gln319Ter) c.361C>T (p.Gln121Ter) c.355C>T (p.Gln119Ter) c.10C>T (p.Gln4Ter) c.131C>T (p.Thr44Ile) c.687-7998C>T (n.687-7998C>T) c.1333C>T (p.Gln445Ter) n.2570C>T n.995-2501C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436866A= | CA1882673127 | ADAMTS13 | c.1346A= (p.Gln449=) c.1253A= (p.Gln418=) c.602A= (p.Gln201=) c.*150A= (n.*150A=) n.974-2500A= c.*630A= (n.*630A=) n.993-2500A= c.956A= (p.Gln319=) c.362A= (p.Gln121=) c.356A= (p.Gln119=) c.11A= (p.Gln4=) c.132A= (p.Thr44=) c.687-7997A= (n.687-7997A=) c.1334A= (p.Gln445=) n.2571A= n.995-2500A= | |
| 9 | g.133436866A>C | CA375391558 | ADAMTS13 | c.1346A>C (p.Gln449Pro) c.1253A>C (p.Gln418Pro) c.602A>C (p.Gln201Pro) c.*150A>C (n.*150A>C) n.974-2500A>C c.*630A>C (n.*630A>C) n.993-2500A>C c.956A>C (p.Gln319Pro) c.362A>C (p.Gln121Pro) c.356A>C (p.Gln119Pro) c.11A>C (p.Gln4Pro) c.132A>C (p.Thr44=) c.687-7997A>C (n.687-7997A>C) c.1334A>C (p.Gln445Pro) n.2571A>C n.995-2500A>C | |
| 9 | g.133436866A>G | CA375391559 | ADAMTS13 | c.1346A>G (p.Gln449Arg) c.1253A>G (p.Gln418Arg) c.602A>G (p.Gln201Arg) c.*150A>G (n.*150A>G) n.974-2500A>G c.*630A>G (n.*630A>G) n.993-2500A>G c.956A>G (p.Gln319Arg) c.362A>G (p.Gln121Arg) c.356A>G (p.Gln119Arg) c.11A>G (p.Gln4Arg) c.132A>G (p.Thr44=) c.687-7997A>G (n.687-7997A>G) c.1334A>G (p.Gln445Arg) n.2571A>G n.995-2500A>G | dbSNP |
| 9 | g.133436866A>T | CA375391561 | ADAMTS13 | c.1346A>T (p.Gln449Leu) c.1253A>T (p.Gln418Leu) c.602A>T (p.Gln201Leu) c.*150A>T (n.*150A>T) n.974-2500A>T c.*630A>T (n.*630A>T) n.993-2500A>T c.956A>T (p.Gln319Leu) c.362A>T (p.Gln121Leu) c.356A>T (p.Gln119Leu) c.11A>T (p.Gln4Leu) c.132A>T (p.Thr44=) c.687-7997A>T (n.687-7997A>T) c.1334A>T (p.Gln445Leu) n.2571A>T n.995-2500A>T | |
| 9 | g.133436867G>A | CA860755510 | ADAMTS13 | c.1347G>A (p.Gln449=) c.1254G>A (p.Gln418=) c.603G>A (p.Gln201=) c.*151G>A (n.*151G>A) n.974-2499G>A c.*631G>A (n.*631G>A) n.993-2499G>A c.957G>A (p.Gln319=) c.363G>A (p.Gln121=) c.357G>A (p.Gln119=) c.12G>A (p.Gln4=) c.133G>A (p.Val45Met) c.687-7996G>A (n.687-7996G>A) c.1335G>A (p.Gln445=) n.2572G>A n.995-2499G>A | dbSNP gnomAD v4 |
| 9 | g.133436867G>C | CA375391563 | ADAMTS13 | c.1347G>C (p.Gln449His) c.1254G>C (p.Gln418His) c.603G>C (p.Gln201His) c.*151G>C (n.*151G>C) n.974-2499G>C c.*631G>C (n.*631G>C) n.993-2499G>C c.957G>C (p.Gln319His) c.363G>C (p.Gln121His) c.357G>C (p.Gln119His) c.12G>C (p.Gln4His) c.133G>C (p.Val45Leu) c.687-7996G>C (n.687-7996G>C) c.1335G>C (p.Gln445His) n.2572G>C n.995-2499G>C | |
| 9 | g.133436867G= | CA1882673128 | ADAMTS13 | c.1347G= (p.Gln449=) c.1254G= (p.Gln418=) c.603G= (p.Gln201=) c.*151G= (n.*151G=) n.974-2499G= c.*631G= (n.*631G=) n.993-2499G= c.957G= (p.Gln319=) c.363G= (p.Gln121=) c.357G= (p.Gln119=) c.12G= (p.Gln4=) c.133G= (p.Val45=) c.687-7996G= (n.687-7996G=) c.1335G= (p.Gln445=) n.2572G= n.995-2499G= | |
| 9 | g.133436867G>T | CA375391565 | ADAMTS13 | c.1347G>T (p.Gln449His) c.1254G>T (p.Gln418His) c.603G>T (p.Gln201His) c.*151G>T (n.*151G>T) n.974-2499G>T c.*631G>T (n.*631G>T) n.993-2499G>T c.957G>T (p.Gln319His) c.363G>T (p.Gln121His) c.357G>T (p.Gln119His) c.12G>T (p.Gln4His) c.133G>T (p.Val45Leu) c.687-7996G>T (n.687-7996G>T) c.1335G>T (p.Gln445His) n.2572G>T n.995-2499G>T | |
| 9 | g.133436868T>A | CA375391567 | ADAMTS13 | c.1348T>A (p.Cys450Ser) c.1255T>A (p.Cys419Ser) c.604T>A (p.Cys202Ser) c.*152T>A (n.*152T>A) n.974-2498T>A c.*632T>A (n.*632T>A) n.993-2498T>A c.958T>A (p.Cys320Ser) c.364T>A (p.Cys122Ser) c.358T>A (p.Cys120Ser) c.13T>A (p.Cys5Ser) c.134T>A (p.Val45Glu) c.687-7995T>A (n.687-7995T>A) c.1336T>A (p.Cys446Ser) n.2573T>A n.995-2498T>A | gnomAD v4 |
| 9 | g.133436868T>C | CA200929618 | ADAMTS13 | c.1348T>C (p.Cys450Arg) c.1255T>C (p.Cys419Arg) c.604T>C (p.Cys202Arg) c.*152T>C (n.*152T>C) n.974-2498T>C c.*632T>C (n.*632T>C) n.993-2498T>C c.958T>C (p.Cys320Arg) c.364T>C (p.Cys122Arg) c.358T>C (p.Cys120Arg) c.13T>C (p.Cys5Arg) c.134T>C (p.Val45Ala) c.687-7995T>C (n.687-7995T>C) c.1336T>C (p.Cys446Arg) n.2573T>C n.995-2498T>C | dbSNP gnomAD v4 |
| 9 | g.133436868T>G | CA375391571 | ADAMTS13 | c.1348T>G (p.Cys450Gly) c.1255T>G (p.Cys419Gly) c.604T>G (p.Cys202Gly) c.*152T>G (n.*152T>G) n.974-2498T>G c.*632T>G (n.*632T>G) n.993-2498T>G c.958T>G (p.Cys320Gly) c.364T>G (p.Cys122Gly) c.358T>G (p.Cys120Gly) c.13T>G (p.Cys5Gly) c.134T>G (p.Val45Gly) c.687-7995T>G (n.687-7995T>G) c.1336T>G (p.Cys446Gly) n.2573T>G n.995-2498T>G | gnomAD v4 |
| 9 | g.133436868T= | CA1882673129 | ADAMTS13 | c.1348T= (p.Cys450=) c.1255T= (p.Cys419=) c.604T= (p.Cys202=) c.*152T= (n.*152T=) n.974-2498T= c.*632T= (n.*632T=) n.993-2498T= c.958T= (p.Cys320=) c.364T= (p.Cys122=) c.358T= (p.Cys120=) c.13T= (p.Cys5=) c.134T= (p.Val45=) c.687-7995T= (n.687-7995T=) c.1336T= (p.Cys446=) n.2573T= n.995-2498T= | |
| 9 | g.133436869G>A | CA375391577 | ADAMTS13 | c.1349G>A (p.Cys450Tyr) c.1256G>A (p.Cys419Tyr) c.605G>A (p.Cys202Tyr) c.*153G>A (n.*153G>A) n.974-2497G>A c.*633G>A (n.*633G>A) n.993-2497G>A c.959G>A (p.Cys320Tyr) c.365G>A (p.Cys122Tyr) c.359G>A (p.Cys120Tyr) c.14G>A (p.Cys5Tyr) c.135G>A (p.Val45=) c.687-7994G>A (n.687-7994G>A) c.1337G>A (p.Cys446Tyr) n.2574G>A n.995-2497G>A | |
| 9 | g.133436869G>C | CA375391574 | ADAMTS13 | c.1349G>C (p.Cys450Ser) c.1256G>C (p.Cys419Ser) c.605G>C (p.Cys202Ser) c.*153G>C (n.*153G>C) n.974-2497G>C c.*633G>C (n.*633G>C) n.993-2497G>C c.959G>C (p.Cys320Ser) c.365G>C (p.Cys122Ser) c.359G>C (p.Cys120Ser) c.14G>C (p.Cys5Ser) c.135G>C (p.Val45=) c.687-7994G>C (n.687-7994G>C) c.1337G>C (p.Cys446Ser) n.2574G>C n.995-2497G>C | |
| 9 | g.133436869G>T | CA375391575 | ADAMTS13 | c.1349G>T (p.Cys450Phe) c.1256G>T (p.Cys419Phe) c.605G>T (p.Cys202Phe) c.*153G>T (n.*153G>T) n.974-2497G>T c.*633G>T (n.*633G>T) n.993-2497G>T c.959G>T (p.Cys320Phe) c.365G>T (p.Cys122Phe) c.359G>T (p.Cys120Phe) c.14G>T (p.Cys5Phe) c.135G>T (p.Val45=) c.687-7994G>T (n.687-7994G>T) c.1337G>T (p.Cys446Phe) n.2574G>T n.995-2497G>T | gnomAD v4 |
| 9 | g.133436870del | CA2692371117 | ADAMTS13 | c.1350del (p.Cys450TrpfsTer?) c.1257del (p.Cys419TrpfsTer?) c.606del (p.Cys202TrpfsTer?) c.*154del (n.*154del) n.974-2496del c.*634del (n.*634del) n.993-2496del c.960del (p.Cys320TrpfsTer?) c.366del (p.Cys122TrpfsTer?) c.360del (p.Cys120TrpfsTer?) c.15del (p.Cys5TrpfsTer?) c.136del (p.Arg46AlafsTer?) c.687-7993del (n.687-7993del) c.1338del (p.Cys446TrpfsTer?) n.2575del n.995-2496del | gnomAD v4 |
| 9 | g.133436870C>A | CA375391580 | ADAMTS13 | c.1350C>A (p.Cys450Ter) c.1257C>A (p.Cys419Ter) c.606C>A (p.Cys202Ter) c.*154C>A (n.*154C>A) n.974-2496C>A c.*634C>A (n.*634C>A) n.993-2496C>A c.960C>A (p.Cys320Ter) c.366C>A (p.Cys122Ter) c.360C>A (p.Cys120Ter) c.15C>A (p.Cys5Ter) c.136C>A (p.Arg46Ser) c.687-7993C>A (n.687-7993C>A) c.1338C>A (p.Cys446Ter) n.2575C>A n.995-2496C>A | gnomAD v4 |
| 9 | g.133436870C= | CA1882673130 | ADAMTS13 | c.1350C= (p.Cys450=) c.1257C= (p.Cys419=) c.606C= (p.Cys202=) c.*154C= (n.*154C=) n.974-2496C= c.*634C= (n.*634C=) n.993-2496C= c.960C= (p.Cys320=) c.366C= (p.Cys122=) c.360C= (p.Cys120=) c.15C= (p.Cys5=) c.136C= (p.Arg46=) c.687-7993C= (n.687-7993C=) c.1338C= (p.Cys446=) n.2575C= n.995-2496C= | |
| 9 | g.133436870C>G | CA375391581 | ADAMTS13 | c.1350C>G (p.Cys450Trp) c.1257C>G (p.Cys419Trp) c.606C>G (p.Cys202Trp) c.*154C>G (n.*154C>G) n.974-2496C>G c.*634C>G (n.*634C>G) n.993-2496C>G c.960C>G (p.Cys320Trp) c.366C>G (p.Cys122Trp) c.360C>G (p.Cys120Trp) c.15C>G (p.Cys5Trp) c.136C>G (p.Arg46Gly) c.687-7993C>G (n.687-7993C>G) c.1338C>G (p.Cys446Trp) n.2575C>G n.995-2496C>G | gnomAD v4 |
| 9 | g.133436870C>T | CA200929622 | ADAMTS13 | c.1350C>T (p.Cys450=) c.1257C>T (p.Cys419=) c.606C>T (p.Cys202=) c.*154C>T (n.*154C>T) n.974-2496C>T c.*634C>T (n.*634C>T) n.993-2496C>T c.960C>T (p.Cys320=) c.366C>T (p.Cys122=) c.360C>T (p.Cys120=) c.15C>T (p.Cys5=) c.136C>T (p.Arg46Cys) c.687-7993C>T (n.687-7993C>T) c.1338C>T (p.Cys446=) n.2575C>T n.995-2496C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436871G>A | CA200929626 | ADAMTS13 | c.1351G>A (p.Ala451Thr) c.1258G>A (p.Ala420Thr) c.607G>A (p.Ala203Thr) c.*155G>A (n.*155G>A) n.974-2495G>A c.*635G>A (n.*635G>A) n.993-2495G>A c.961G>A (p.Ala321Thr) c.367G>A (p.Ala123Thr) c.361G>A (p.Ala121Thr) c.16G>A (p.Ala6Thr) c.137G>A (p.Arg46His) c.687-7992G>A (n.687-7992G>A) c.1339G>A (p.Ala447Thr) n.2576G>A n.995-2495G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436871G>C | CA375391586 | ADAMTS13 | c.1351G>C (p.Ala451Pro) c.1258G>C (p.Ala420Pro) c.607G>C (p.Ala203Pro) c.*155G>C (n.*155G>C) n.974-2495G>C c.*635G>C (n.*635G>C) n.993-2495G>C c.961G>C (p.Ala321Pro) c.367G>C (p.Ala123Pro) c.361G>C (p.Ala121Pro) c.16G>C (p.Ala6Pro) c.137G>C (p.Arg46Pro) c.687-7992G>C (n.687-7992G>C) c.1339G>C (p.Ala447Pro) n.2576G>C n.995-2495G>C | gnomAD v4 |
| 9 | g.133436871G= | CA1882673131 | ADAMTS13 | c.1351G= (p.Ala451=) c.1258G= (p.Ala420=) c.607G= (p.Ala203=) c.*155G= (n.*155G=) n.974-2495G= c.*635G= (n.*635G=) n.993-2495G= c.961G= (p.Ala321=) c.367G= (p.Ala123=) c.361G= (p.Ala121=) c.16G= (p.Ala6=) c.137G= (p.Arg46=) c.687-7992G= (n.687-7992G=) c.1339G= (p.Ala447=) n.2576G= n.995-2495G= | |
| 9 | g.133436871G>T | CA375391589 | ADAMTS13 | c.1351G>T (p.Ala451Ser) c.1258G>T (p.Ala420Ser) c.607G>T (p.Ala203Ser) c.*155G>T (n.*155G>T) n.974-2495G>T c.*635G>T (n.*635G>T) n.993-2495G>T c.961G>T (p.Ala321Ser) c.367G>T (p.Ala123Ser) c.361G>T (p.Ala121Ser) c.16G>T (p.Ala6Ser) c.137G>T (p.Arg46Leu) c.687-7992G>T (n.687-7992G>T) c.1339G>T (p.Ala447Ser) n.2576G>T n.995-2495G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133436871_133436877dup | CA2692371123 | ADAMTS13 | c.1351_1357dup (p.Thr453SerfsTer?) c.1258_1264dup (p.Thr422SerfsTer?) c.607_613dup (p.Thr205SerfsTer?) c.*155_*161dup (n.*155_*161dup) n.974-2495_974-2489dup c.*635_*641dup (n.*635_*641dup) n.993-2495_993-2489dup c.961_967dup (p.Thr323SerfsTer?) c.367_373dup (p.Thr125SerfsTer?) c.361_367dup (p.Thr123SerfsTer?) c.16_22dup (p.Thr8SerfsTer?) c.137_143dup (p.Asp48GlufsTer?) c.687-7992_687-7986dup (n.687-7992_687-7986dup) c.1339_1345dup (p.Thr449SerfsTer?) n.2576_2582dup n.995-2495_995-2489dup | gnomAD v4 |
| 9 | g.133436872C>A | CA375391591 | ADAMTS13 | c.1352C>A (p.Ala451Asp) c.1259C>A (p.Ala420Asp) c.608C>A (p.Ala203Asp) c.*156C>A (n.*156C>A) n.974-2494C>A c.*636C>A (n.*636C>A) n.993-2494C>A c.962C>A (p.Ala321Asp) c.368C>A (p.Ala123Asp) c.362C>A (p.Ala121Asp) c.17C>A (p.Ala6Asp) c.138C>A (p.Arg46=) c.687-7991C>A (n.687-7991C>A) c.1340C>A (p.Ala447Asp) n.2577C>A n.995-2494C>A | |
| 9 | g.133436872C>G | CA375391593 | ADAMTS13 | c.1352C>G (p.Ala451Gly) c.1259C>G (p.Ala420Gly) c.608C>G (p.Ala203Gly) c.*156C>G (n.*156C>G) n.974-2494C>G c.*636C>G (n.*636C>G) n.993-2494C>G c.962C>G (p.Ala321Gly) c.368C>G (p.Ala123Gly) c.362C>G (p.Ala121Gly) c.17C>G (p.Ala6Gly) c.138C>G (p.Arg46=) c.687-7991C>G (n.687-7991C>G) c.1340C>G (p.Ala447Gly) n.2577C>G n.995-2494C>G | |
| 9 | g.133436872C>T | CA375391594 | ADAMTS13 | c.1352C>T (p.Ala451Val) c.1259C>T (p.Ala420Val) c.608C>T (p.Ala203Val) c.*156C>T (n.*156C>T) n.974-2494C>T c.*636C>T (n.*636C>T) n.993-2494C>T c.962C>T (p.Ala321Val) c.368C>T (p.Ala123Val) c.362C>T (p.Ala121Val) c.17C>T (p.Ala6Val) c.138C>T (p.Arg46=) c.687-7991C>T (n.687-7991C>T) c.1340C>T (p.Ala447Val) n.2577C>T n.995-2494C>T | |
| 9 | g.133436872_133436874del | CA2692371127 | ADAMTS13 | c.1352_1354del (p.Ala451_Arg452delinsGly) c.1259_1261del (p.Ala420_Arg421delinsGly) c.608_610del (p.Ala203_Arg204delinsGly) c.*156_*158del (n.*156_*158del) n.974-2494_974-2492del c.*636_*638del (n.*636_*638del) n.993-2494_993-2492del c.962_964del (p.Ala321_Arg322delinsGly) c.368_370del (p.Ala123_Arg124delinsGly) c.362_364del (p.Ala121_Arg122delinsGly) c.17_19del (p.Ala6_Arg7delinsGly) c.138_140del (p.Gln47del) c.687-7991_687-7989del (n.687-7991_687-7989del) c.1340_1342del (p.Ala447_Arg448delinsGly) n.2577_2579del n.995-2494_995-2492del | gnomAD v4 |
| 9 | g.133436873C>A | CA2692371129 | ADAMTS13 | c.1353C>A (p.Ala451=) c.1260C>A (p.Ala420=) c.609C>A (p.Ala203=) c.*157C>A (n.*157C>A) n.974-2493C>A c.*637C>A (n.*637C>A) n.993-2493C>A c.963C>A (p.Ala321=) c.369C>A (p.Ala123=) c.363C>A (p.Ala121=) c.18C>A (p.Ala6=) c.139C>A (p.Gln47Lys) c.687-7990C>A (n.687-7990C>A) c.1341C>A (p.Ala447=) n.2578C>A n.995-2493C>A | gnomAD v4 |
| 9 | g.133436874A= | CA1882673132 | ADAMTS13 | c.1354A= (p.Arg452=) c.1261A= (p.Arg421=) c.610A= (p.Arg204=) c.*158A= (n.*158A=) n.974-2492A= c.*638A= (n.*638A=) n.993-2492A= c.964A= (p.Arg322=) c.370A= (p.Arg124=) c.364A= (p.Arg122=) c.19A= (p.Arg7=) c.140A= (p.Gln47=) c.687-7989A= (n.687-7989A=) c.1342A= (p.Arg448=) n.2579A= n.995-2492A= | |
| 9 | g.133436874A>G | CA375391596 | ADAMTS13 | c.1354A>G (p.Arg452Gly) c.1261A>G (p.Arg421Gly) c.610A>G (p.Arg204Gly) c.*158A>G (n.*158A>G) n.974-2492A>G c.*638A>G (n.*638A>G) n.993-2492A>G c.964A>G (p.Arg322Gly) c.370A>G (p.Arg124Gly) c.364A>G (p.Arg122Gly) c.19A>G (p.Arg7Gly) c.140A>G (p.Gln47Arg) c.687-7989A>G (n.687-7989A>G) c.1342A>G (p.Arg448Gly) n.2579A>G n.995-2492A>G | dbSNP gnomAD v4 |
| 9 | g.133436874A>T | CA375391597 | ADAMTS13 | c.1354A>T (p.Arg452Trp) c.1261A>T (p.Arg421Trp) c.610A>T (p.Arg204Trp) c.*158A>T (n.*158A>T) n.974-2492A>T c.*638A>T (n.*638A>T) n.993-2492A>T c.964A>T (p.Arg322Trp) c.370A>T (p.Arg124Trp) c.364A>T (p.Arg122Trp) c.19A>T (p.Arg7Trp) c.140A>T (p.Gln47Leu) c.687-7989A>T (n.687-7989A>T) c.1342A>T (p.Arg448Trp) n.2579A>T n.995-2492A>T | |
| 9 | g.133436875G>A | CA375391601 | ADAMTS13 | c.1355G>A (p.Arg452Lys) c.1262G>A (p.Arg421Lys) c.611G>A (p.Arg204Lys) c.*159G>A (n.*159G>A) n.974-2491G>A c.*639G>A (n.*639G>A) n.993-2491G>A c.965G>A (p.Arg322Lys) c.371G>A (p.Arg124Lys) c.365G>A (p.Arg122Lys) c.20G>A (p.Arg7Lys) c.141G>A (p.Gln47=) c.687-7988G>A (n.687-7988G>A) c.1343G>A (p.Arg448Lys) n.2580G>A n.995-2491G>A | dbSNP gnomAD v4 |
| 9 | g.133436875G>C | CA375391603 | ADAMTS13 | c.1355G>C (p.Arg452Thr) c.1262G>C (p.Arg421Thr) c.611G>C (p.Arg204Thr) c.*159G>C (n.*159G>C) n.974-2491G>C c.*639G>C (n.*639G>C) n.993-2491G>C c.965G>C (p.Arg322Thr) c.371G>C (p.Arg124Thr) c.365G>C (p.Arg122Thr) c.20G>C (p.Arg7Thr) c.141G>C (p.Gln47His) c.687-7988G>C (n.687-7988G>C) c.1343G>C (p.Arg448Thr) n.2580G>C n.995-2491G>C | |
| 9 | g.133436875G= | CA1882673133 | ADAMTS13 | c.1355G= (p.Arg452=) c.1262G= (p.Arg421=) c.611G= (p.Arg204=) c.*159G= (n.*159G=) n.974-2491G= c.*639G= (n.*639G=) n.993-2491G= c.965G= (p.Arg322=) c.371G= (p.Arg124=) c.365G= (p.Arg122=) c.20G= (p.Arg7=) c.141G= (p.Gln47=) c.687-7988G= (n.687-7988G=) c.1343G= (p.Arg448=) n.2580G= n.995-2491G= | |
| 9 | g.133436875G>T | CA375391599 | ADAMTS13 | c.1355G>T (p.Arg452Met) c.1262G>T (p.Arg421Met) c.611G>T (p.Arg204Met) c.*159G>T (n.*159G>T) n.974-2491G>T c.*639G>T (n.*639G>T) n.993-2491G>T c.965G>T (p.Arg322Met) c.371G>T (p.Arg124Met) c.365G>T (p.Arg122Met) c.20G>T (p.Arg7Met) c.141G>T (p.Gln47His) c.687-7988G>T (n.687-7988G>T) c.1343G>T (p.Arg448Met) n.2580G>T n.995-2491G>T | gnomAD v4 |
| 9 | g.133436876G>A | CA200929627 | ADAMTS13 | c.1356G>A (p.Arg452=) c.1263G>A (p.Arg421=) c.612G>A (p.Arg204=) c.*160G>A (n.*160G>A) n.974-2490G>A c.*640G>A (n.*640G>A) n.993-2490G>A c.966G>A (p.Arg322=) c.372G>A (p.Arg124=) c.366G>A (p.Arg122=) c.21G>A (p.Arg7=) c.142G>A (p.Asp48Asn) c.687-7987G>A (n.687-7987G>A) c.1344G>A (p.Arg448=) n.2581G>A n.995-2490G>A | ClinVar dbSNP gnomAD v4 COSMIC |