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_133436835del | CA2523463605 | ADAMTS13 | c.1310_1315del (p.Ala437_Cys438del) c.1217_1222del (p.Ala406_Cys407del) c.566_571del (p.Ala189_Cys190del) c.*114_*119del (n.*114_*119del) n.974-2536_974-2531del c.*594_*599del (n.*594_*599del) n.993-2536_993-2531del c.920_925del (p.Ala307_Cys308del) c.326_331del (p.Ala109_Cys110del) c.320_325del (p.Ala107_Cys108del) c.-26_-21del (n.-26_-21del) c.96_101del (p.Leu33_Arg34del) c.687-8033_687-8028del (n.687-8033_687-8028del) c.1298_1303del (p.Ala433_Cys434del) n.2535_2540del n.995-2536_995-2531del | |
9 | g.133436830C>A | CA375391424 | ADAMTS13 | c.1310C>A (p.Ala437Asp) c.1217C>A (p.Ala406Asp) c.566C>A (p.Ala189Asp) c.*114C>A (n.*114C>A) n.974-2536C>A c.*594C>A (n.*594C>A) n.993-2536C>A c.920C>A (p.Ala307Asp) c.326C>A (p.Ala109Asp) c.320C>A (p.Ala107Asp) c.-26C>A (n.-26C>A) c.96C>A (p.Gly32=) c.687-8033C>A (n.687-8033C>A) c.1298C>A (p.Ala433Asp) n.2535C>A n.995-2536C>A | dbSNP gnomAD v4 |
9 | g.133436830C= | CA1882673104 | ADAMTS13 | c.1310C= (p.Ala437=) c.1217C= (p.Ala406=) c.566C= (p.Ala189=) c.*114C= (n.*114C=) n.974-2536C= c.*594C= (n.*594C=) n.993-2536C= c.920C= (p.Ala307=) c.326C= (p.Ala109=) c.320C= (p.Ala107=) c.-26C= (n.-26C=) c.96C= (p.Gly32=) c.687-8033C= (n.687-8033C=) c.1298C= (p.Ala433=) n.2535C= n.995-2536C= | |
9 | g.133436830C>G | CA375391425 | ADAMTS13 | c.1310C>G (p.Ala437Gly) c.1217C>G (p.Ala406Gly) c.566C>G (p.Ala189Gly) c.*114C>G (n.*114C>G) n.974-2536C>G c.*594C>G (n.*594C>G) n.993-2536C>G c.920C>G (p.Ala307Gly) c.326C>G (p.Ala109Gly) c.320C>G (p.Ala107Gly) c.-26C>G (n.-26C>G) c.96C>G (p.Gly32=) c.687-8033C>G (n.687-8033C>G) c.1298C>G (p.Ala433Gly) n.2535C>G n.995-2536C>G | |
9 | g.133436830C>T | CA375391426 | ADAMTS13 | c.1310C>T (p.Ala437Val) c.1217C>T (p.Ala406Val) c.566C>T (p.Ala189Val) c.*114C>T (n.*114C>T) n.974-2536C>T c.*594C>T (n.*594C>T) n.993-2536C>T c.920C>T (p.Ala307Val) c.326C>T (p.Ala109Val) c.320C>T (p.Ala107Val) c.-26C>T (n.-26C>T) c.96C>T (p.Gly32=) c.687-8033C>T (n.687-8033C>T) c.1298C>T (p.Ala433Val) n.2535C>T n.995-2536C>T | gnomAD v4 |
9 | g.133436830_133436832del | CA2692370903 | ADAMTS13 | c.1310_1312del (p.Ala437_Cys438delinsGly) c.1217_1219del (p.Ala406_Cys407delinsGly) c.566_568del (p.Ala189_Cys190delinsGly) c.*114_*116del (n.*114_*116del) n.974-2536_974-2534del c.*594_*596del (n.*594_*596del) n.993-2536_993-2534del c.920_922del (p.Ala307_Cys308delinsGly) c.326_328del (p.Ala109_Cys110delinsGly) c.320_322del (p.Ala107_Cys108delinsGly) c.-26_-24del (n.-26_-24del) c.96_98del (p.Leu33del) c.687-8033_687-8031del (n.687-8033_687-8031del) c.1298_1300del (p.Ala433_Cys434delinsGly) n.2535_2537del n.995-2536_995-2534del | 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.133436831C>A | CA2692370917 | ADAMTS13 | c.1311C>A (p.Ala437=) c.1218C>A (p.Ala406=) c.567C>A (p.Ala189=) c.*115C>A (n.*115C>A) n.974-2535C>A c.*595C>A (n.*595C>A) n.993-2535C>A c.921C>A (p.Ala307=) c.327C>A (p.Ala109=) c.321C>A (p.Ala107=) c.-25C>A (n.-25C>A) c.97C>A (p.Leu33Met) c.687-8032C>A (n.687-8032C>A) c.1299C>A (p.Ala433=) n.2536C>A n.995-2535C>A | gnomAD v4 |
9 | g.133436831C>T | CA2692370915 | ADAMTS13 | c.1311C>T (p.Ala437=) c.1218C>T (p.Ala406=) c.567C>T (p.Ala189=) c.*115C>T (n.*115C>T) n.974-2535C>T c.*595C>T (n.*595C>T) n.993-2535C>T c.921C>T (p.Ala307=) c.327C>T (p.Ala109=) c.321C>T (p.Ala107=) c.-25C>T (n.-25C>T) c.97C>T (p.Leu33=) c.687-8032C>T (n.687-8032C>T) c.1299C>T (p.Ala433=) n.2536C>T n.995-2535C>T | gnomAD v4 |
9 | g.133436832_133436842dup | CA2692370913 | ADAMTS13 | c.1312_1322dup (p.Gln442AlafsTer?) c.1219_1229dup (p.Gln411AlafsTer?) c.568_578dup (p.Gln194AlafsTer?) c.*116_*126dup (n.*116_*126dup) n.974-2534_974-2524dup c.*596_*606dup (n.*596_*606dup) n.993-2534_993-2524dup c.922_932dup (p.Gln312AlafsTer?) c.328_338dup (p.Gln114AlafsTer?) c.322_332dup (p.Gln112AlafsTer?) c.-24_-14dup (n.-24_-14dup) c.98_108dup (p.Pro37CysfsTer?) c.687-8031_687-8021dup (n.687-8031_687-8021dup) c.1300_1310dup (p.Gln438AlafsTer?) n.2537_2547dup n.995-2534_995-2524dup | gnomAD v4 |
9 | g.133436832T>A | CA375391427 | ADAMTS13 | c.1312T>A (p.Cys438Ser) c.1219T>A (p.Cys407Ser) c.568T>A (p.Cys190Ser) c.*116T>A (n.*116T>A) n.974-2534T>A c.*596T>A (n.*596T>A) n.993-2534T>A c.922T>A (p.Cys308Ser) c.328T>A (p.Cys110Ser) c.322T>A (p.Cys108Ser) c.-24T>A (n.-24T>A) c.98T>A (p.Leu33Gln) c.687-8031T>A (n.687-8031T>A) c.1300T>A (p.Cys434Ser) n.2537T>A n.995-2534T>A | |
9 | g.133436832T>C | CA375391428 | ADAMTS13 | c.1312T>C (p.Cys438Arg) c.1219T>C (p.Cys407Arg) c.568T>C (p.Cys190Arg) c.*116T>C (n.*116T>C) n.974-2534T>C c.*596T>C (n.*596T>C) n.993-2534T>C c.922T>C (p.Cys308Arg) c.328T>C (p.Cys110Arg) c.322T>C (p.Cys108Arg) c.-24T>C (n.-24T>C) c.98T>C (p.Leu33Pro) c.687-8031T>C (n.687-8031T>C) c.1300T>C (p.Cys434Arg) n.2537T>C n.995-2534T>C | dbSNP gnomAD v4 |
9 | g.133436832T>G | CA375391429 | ADAMTS13 | c.1312T>G (p.Cys438Gly) c.1219T>G (p.Cys407Gly) c.568T>G (p.Cys190Gly) c.*116T>G (n.*116T>G) n.974-2534T>G c.*596T>G (n.*596T>G) n.993-2534T>G c.922T>G (p.Cys308Gly) c.328T>G (p.Cys110Gly) c.322T>G (p.Cys108Gly) c.-24T>G (n.-24T>G) c.98T>G (p.Leu33Arg) c.687-8031T>G (n.687-8031T>G) c.1300T>G (p.Cys434Gly) n.2537T>G n.995-2534T>G | |
9 | g.133436832T= | CA1882673105 | ADAMTS13 | c.1312T= (p.Cys438=) c.1219T= (p.Cys407=) c.568T= (p.Cys190=) c.*116T= (n.*116T=) n.974-2534T= c.*596T= (n.*596T=) n.993-2534T= c.922T= (p.Cys308=) c.328T= (p.Cys110=) c.322T= (p.Cys108=) c.-24T= (n.-24T=) c.98T= (p.Leu33=) c.687-8031T= (n.687-8031T=) c.1300T= (p.Cys434=) n.2537T= n.995-2534T= | |
9 | g.133436833G>A | CA375391430 | ADAMTS13 | c.1313G>A (p.Cys438Tyr) c.1220G>A (p.Cys407Tyr) c.569G>A (p.Cys190Tyr) c.*117G>A (n.*117G>A) n.974-2533G>A c.*597G>A (n.*597G>A) n.993-2533G>A c.923G>A (p.Cys308Tyr) c.329G>A (p.Cys110Tyr) c.323G>A (p.Cys108Tyr) c.-23G>A (n.-23G>A) c.99G>A (p.Leu33=) c.687-8030G>A (n.687-8030G>A) c.1301G>A (p.Cys434Tyr) n.2538G>A n.995-2533G>A | gnomAD v4 |
9 | g.133436833G>C | CA375391432 | ADAMTS13 | c.1313G>C (p.Cys438Ser) c.1220G>C (p.Cys407Ser) c.569G>C (p.Cys190Ser) c.*117G>C (n.*117G>C) n.974-2533G>C c.*597G>C (n.*597G>C) n.993-2533G>C c.923G>C (p.Cys308Ser) c.329G>C (p.Cys110Ser) c.323G>C (p.Cys108Ser) c.-23G>C (n.-23G>C) c.99G>C (p.Leu33=) c.687-8030G>C (n.687-8030G>C) c.1301G>C (p.Cys434Ser) n.2538G>C n.995-2533G>C | gnomAD v4 |
9 | g.133436833G= | CA1882673106 | ADAMTS13 | c.1313G= (p.Cys438=) c.1220G= (p.Cys407=) c.569G= (p.Cys190=) c.*117G= (n.*117G=) n.974-2533G= c.*597G= (n.*597G=) n.993-2533G= c.923G= (p.Cys308=) c.329G= (p.Cys110=) c.323G= (p.Cys108=) c.-23G= (n.-23G=) c.99G= (p.Leu33=) c.687-8030G= (n.687-8030G=) c.1301G= (p.Cys434=) n.2538G= n.995-2533G= | |
9 | g.133436833G>T | CA375391431 | ADAMTS13 | c.1313G>T (p.Cys438Phe) c.1220G>T (p.Cys407Phe) c.569G>T (p.Cys190Phe) c.*117G>T (n.*117G>T) n.974-2533G>T c.*597G>T (n.*597G>T) n.993-2533G>T c.923G>T (p.Cys308Phe) c.329G>T (p.Cys110Phe) c.323G>T (p.Cys108Phe) c.-23G>T (n.-23G>T) c.99G>T (p.Leu33=) c.687-8030G>T (n.687-8030G>T) c.1301G>T (p.Cys434Phe) n.2538G>T n.995-2533G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436834_133436835del | CA2692370926 | ADAMTS13 | c.1314_1315del (p.Cys438Ter) c.1221_1222del (p.Cys407Ter) c.570_571del (p.Cys190Ter) c.*118_*119del (n.*118_*119del) n.974-2532_974-2531del c.*598_*599del (n.*598_*599del) n.993-2532_993-2531del c.924_925del (p.Cys308Ter) c.330_331del (p.Cys110Ter) c.324_325del (p.Cys108Ter) c.-22_-21del (n.-22_-21del) c.100_101del (p.Glu35ArgfsTer?) c.687-8029_687-8028del (n.687-8029_687-8028del) c.1302_1303del (p.Cys434Ter) n.2539_2540del n.995-2532_995-2531del | gnomAD v4 |
9 | g.133436834C>A | CA375391433 | ADAMTS13 | c.1314C>A (p.Cys438Ter) c.1221C>A (p.Cys407Ter) c.570C>A (p.Cys190Ter) c.*118C>A (n.*118C>A) n.974-2532C>A c.*598C>A (n.*598C>A) n.993-2532C>A c.924C>A (p.Cys308Ter) c.330C>A (p.Cys110Ter) c.324C>A (p.Cys108Ter) c.-22C>A (n.-22C>A) c.100C>A (p.Arg34=) c.687-8029C>A (n.687-8029C>A) c.1302C>A (p.Cys434Ter) n.2539C>A n.995-2532C>A | gnomAD v4 |
9 | g.133436834C= | CA1882673107 | ADAMTS13 | c.1314C= (p.Cys438=) c.1221C= (p.Cys407=) c.570C= (p.Cys190=) c.*118C= (n.*118C=) n.974-2532C= c.*598C= (n.*598C=) n.993-2532C= c.924C= (p.Cys308=) c.330C= (p.Cys110=) c.324C= (p.Cys108=) c.-22C= (n.-22C=) c.100C= (p.Arg34=) c.687-8029C= (n.687-8029C=) c.1302C= (p.Cys434=) n.2539C= n.995-2532C= | |
9 | g.133436834C>G | CA375391434 | ADAMTS13 | c.1314C>G (p.Cys438Trp) c.1221C>G (p.Cys407Trp) c.570C>G (p.Cys190Trp) c.*118C>G (n.*118C>G) n.974-2532C>G c.*598C>G (n.*598C>G) n.993-2532C>G c.924C>G (p.Cys308Trp) c.330C>G (p.Cys110Trp) c.324C>G (p.Cys108Trp) c.-22C>G (n.-22C>G) c.100C>G (p.Arg34Gly) c.687-8029C>G (n.687-8029C>G) c.1302C>G (p.Cys434Trp) n.2539C>G n.995-2532C>G | gnomAD v4 |
9 | g.133436834C>T | CA200929528 | ADAMTS13 | c.1314C>T (p.Cys438=) c.1221C>T (p.Cys407=) c.570C>T (p.Cys190=) c.*118C>T (n.*118C>T) n.974-2532C>T c.*598C>T (n.*598C>T) n.993-2532C>T c.924C>T (p.Cys308=) c.330C>T (p.Cys110=) c.324C>T (p.Cys108=) c.-22C>T (n.-22C>T) c.100C>T (p.Arg34Ter) c.687-8029C>T (n.687-8029C>T) c.1302C>T (p.Cys434=) n.2539C>T n.995-2532C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436835G>A | CA200929534 | ADAMTS13 | c.1315G>A (p.Glu439Lys) c.1222G>A (p.Glu408Lys) c.571G>A (p.Glu191Lys) c.*119G>A (n.*119G>A) n.974-2531G>A c.*599G>A (n.*599G>A) n.993-2531G>A c.925G>A (p.Glu309Lys) c.331G>A (p.Glu111Lys) c.325G>A (p.Glu109Lys) c.-21G>A (n.-21G>A) c.101G>A (p.Arg34Gln) c.687-8028G>A (n.687-8028G>A) c.1303G>A (p.Glu435Lys) n.2540G>A n.995-2531G>A | dbSNP gnomAD v4 |
9 | g.133436835G>C | CA375391435 | ADAMTS13 | c.1315G>C (p.Glu439Gln) c.1222G>C (p.Glu408Gln) c.571G>C (p.Glu191Gln) c.*119G>C (n.*119G>C) n.974-2531G>C c.*599G>C (n.*599G>C) n.993-2531G>C c.925G>C (p.Glu309Gln) c.331G>C (p.Glu111Gln) c.325G>C (p.Glu109Gln) c.-21G>C (n.-21G>C) c.101G>C (p.Arg34Pro) c.687-8028G>C (n.687-8028G>C) c.1303G>C (p.Glu435Gln) n.2540G>C n.995-2531G>C | |
9 | g.133436835G= | CA1882673108 | ADAMTS13 | c.1315G= (p.Glu439=) c.1222G= (p.Glu408=) c.571G= (p.Glu191=) c.*119G= (n.*119G=) n.974-2531G= c.*599G= (n.*599G=) n.993-2531G= c.925G= (p.Glu309=) c.331G= (p.Glu111=) c.325G= (p.Glu109=) c.-21G= (n.-21G=) c.101G= (p.Arg34=) c.687-8028G= (n.687-8028G=) c.1303G= (p.Glu435=) n.2540G= n.995-2531G= | |
9 | g.133436835G>T | CA375391436 | ADAMTS13 | c.1315G>T (p.Glu439Ter) c.1222G>T (p.Glu408Ter) c.571G>T (p.Glu191Ter) c.*119G>T (n.*119G>T) n.974-2531G>T c.*599G>T (n.*599G>T) n.993-2531G>T c.925G>T (p.Glu309Ter) c.331G>T (p.Glu111Ter) c.325G>T (p.Glu109Ter) c.-21G>T (n.-21G>T) c.101G>T (p.Arg34Leu) c.687-8028G>T (n.687-8028G>T) c.1303G>T (p.Glu435Ter) n.2540G>T n.995-2531G>T | ClinVar dbSNP gnomAD v4 |
9 | g.133436836A>C | CA375391437 | ADAMTS13 | c.1316A>C (p.Glu439Ala) c.1223A>C (p.Glu408Ala) c.572A>C (p.Glu191Ala) c.*120A>C (n.*120A>C) n.974-2530A>C c.*600A>C (n.*600A>C) n.993-2530A>C c.926A>C (p.Glu309Ala) c.332A>C (p.Glu111Ala) c.326A>C (p.Glu109Ala) c.-20A>C (n.-20A>C) c.102A>C (p.Arg34=) c.687-8027A>C (n.687-8027A>C) c.1304A>C (p.Glu435Ala) n.2541A>C n.995-2530A>C | |
9 | g.133436836A>G | CA375391438 | ADAMTS13 | c.1316A>G (p.Glu439Gly) c.1223A>G (p.Glu408Gly) c.572A>G (p.Glu191Gly) c.*120A>G (n.*120A>G) n.974-2530A>G c.*600A>G (n.*600A>G) n.993-2530A>G c.926A>G (p.Glu309Gly) c.332A>G (p.Glu111Gly) c.326A>G (p.Glu109Gly) c.-20A>G (n.-20A>G) c.102A>G (p.Arg34=) c.687-8027A>G (n.687-8027A>G) c.1304A>G (p.Glu435Gly) n.2541A>G n.995-2530A>G | gnomAD v4 |
9 | g.133436836A>T | CA375391439 | ADAMTS13 | c.1316A>T (p.Glu439Val) c.1223A>T (p.Glu408Val) c.572A>T (p.Glu191Val) c.*120A>T (n.*120A>T) n.974-2530A>T c.*600A>T (n.*600A>T) n.993-2530A>T c.926A>T (p.Glu309Val) c.332A>T (p.Glu111Val) c.326A>T (p.Glu109Val) c.-20A>T (n.-20A>T) c.102A>T (p.Arg34=) c.687-8027A>T (n.687-8027A>T) c.1304A>T (p.Glu435Val) n.2541A>T n.995-2530A>T | gnomAD v4 |
9 | g.133436837G>A | CA2692370956 | ADAMTS13 | c.1317G>A (p.Glu439=) c.1224G>A (p.Glu408=) c.573G>A (p.Glu191=) c.*121G>A (n.*121G>A) n.974-2529G>A c.*601G>A (n.*601G>A) n.993-2529G>A c.927G>A (p.Glu309=) c.333G>A (p.Glu111=) c.327G>A (p.Glu109=) c.-19G>A (n.-19G>A) c.103G>A (p.Glu35Lys) c.687-8026G>A (n.687-8026G>A) c.1305G>A (p.Glu435=) n.2542G>A n.995-2529G>A | gnomAD v4 |
9 | g.133436837G>C | CA375391440 | ADAMTS13 | c.1317G>C (p.Glu439Asp) c.1224G>C (p.Glu408Asp) c.573G>C (p.Glu191Asp) c.*121G>C (n.*121G>C) n.974-2529G>C c.*601G>C (n.*601G>C) n.993-2529G>C c.927G>C (p.Glu309Asp) c.333G>C (p.Glu111Asp) c.327G>C (p.Glu109Asp) c.-19G>C (n.-19G>C) c.103G>C (p.Glu35Gln) c.687-8026G>C (n.687-8026G>C) c.1305G>C (p.Glu435Asp) n.2542G>C n.995-2529G>C | |
9 | g.133436837G>T | CA375391441 | ADAMTS13 | c.1317G>T (p.Glu439Asp) c.1224G>T (p.Glu408Asp) c.573G>T (p.Glu191Asp) c.*121G>T (n.*121G>T) n.974-2529G>T c.*601G>T (n.*601G>T) n.993-2529G>T c.927G>T (p.Glu309Asp) c.333G>T (p.Glu111Asp) c.327G>T (p.Glu109Asp) c.-19G>T (n.-19G>T) c.103G>T (p.Glu35Ter) c.687-8026G>T (n.687-8026G>T) c.1305G>T (p.Glu435Asp) n.2542G>T n.995-2529G>T | gnomAD v4 |
9 | g.133436838A>C | CA375391442 | ADAMTS13 | c.1318A>C (p.Lys440Gln) c.1225A>C (p.Lys409Gln) c.574A>C (p.Lys192Gln) c.*122A>C (n.*122A>C) n.974-2528A>C c.*602A>C (n.*602A>C) n.993-2528A>C c.928A>C (p.Lys310Gln) c.334A>C (p.Lys112Gln) c.328A>C (p.Lys110Gln) c.-18A>C (n.-18A>C) c.104A>C (p.Glu35Ala) c.687-8025A>C (n.687-8025A>C) c.1306A>C (p.Lys436Gln) n.2543A>C n.995-2528A>C | |
9 | g.133436838A>G | CA375391445 | ADAMTS13 | c.1318A>G (p.Lys440Glu) c.1225A>G (p.Lys409Glu) c.574A>G (p.Lys192Glu) c.*122A>G (n.*122A>G) n.974-2528A>G c.*602A>G (n.*602A>G) n.993-2528A>G c.928A>G (p.Lys310Glu) c.334A>G (p.Lys112Glu) c.328A>G (p.Lys110Glu) c.-18A>G (n.-18A>G) c.104A>G (p.Glu35Gly) c.687-8025A>G (n.687-8025A>G) c.1306A>G (p.Lys436Glu) n.2543A>G n.995-2528A>G | |
9 | g.133436838A>T | CA375391444 | ADAMTS13 | c.1318A>T (p.Lys440Ter) c.1225A>T (p.Lys409Ter) c.574A>T (p.Lys192Ter) c.*122A>T (n.*122A>T) n.974-2528A>T c.*602A>T (n.*602A>T) n.993-2528A>T c.928A>T (p.Lys310Ter) c.334A>T (p.Lys112Ter) c.328A>T (p.Lys110Ter) c.-18A>T (n.-18A>T) c.104A>T (p.Glu35Val) c.687-8025A>T (n.687-8025A>T) c.1306A>T (p.Lys436Ter) n.2543A>T n.995-2528A>T | |
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.133436839A>C | CA375391446 | ADAMTS13 | c.1319A>C (p.Lys440Thr) c.1226A>C (p.Lys409Thr) c.575A>C (p.Lys192Thr) c.*123A>C (n.*123A>C) n.974-2527A>C c.*603A>C (n.*603A>C) n.993-2527A>C c.929A>C (p.Lys310Thr) c.335A>C (p.Lys112Thr) c.329A>C (p.Lys110Thr) c.-17A>C (n.-17A>C) c.105A>C (p.Glu35Asp) c.687-8024A>C (n.687-8024A>C) c.1307A>C (p.Lys436Thr) n.2544A>C n.995-2527A>C | |
9 | g.133436839A>G | CA375391448 | ADAMTS13 | c.1319A>G (p.Lys440Arg) c.1226A>G (p.Lys409Arg) c.575A>G (p.Lys192Arg) c.*123A>G (n.*123A>G) n.974-2527A>G c.*603A>G (n.*603A>G) n.993-2527A>G c.929A>G (p.Lys310Arg) c.335A>G (p.Lys112Arg) c.329A>G (p.Lys110Arg) c.-17A>G (n.-17A>G) c.105A>G (p.Glu35=) c.687-8024A>G (n.687-8024A>G) c.1307A>G (p.Lys436Arg) n.2544A>G n.995-2527A>G | |
9 | g.133436839A>T | CA375391447 | ADAMTS13 | c.1319A>T (p.Lys440Met) c.1226A>T (p.Lys409Met) c.575A>T (p.Lys192Met) c.*123A>T (n.*123A>T) n.974-2527A>T c.*603A>T (n.*603A>T) n.993-2527A>T c.929A>T (p.Lys310Met) c.335A>T (p.Lys112Met) c.329A>T (p.Lys110Met) c.-17A>T (n.-17A>T) c.105A>T (p.Glu35Asp) c.687-8024A>T (n.687-8024A>T) c.1307A>T (p.Lys436Met) n.2544A>T n.995-2527A>T | |
9 | g.133436840G>A | CA2692370964 | ADAMTS13 | c.1320G>A (p.Lys440=) c.1227G>A (p.Lys409=) c.576G>A (p.Lys192=) c.*124G>A (n.*124G>A) n.974-2526G>A c.*604G>A (n.*604G>A) n.993-2526G>A c.930G>A (p.Lys310=) c.336G>A (p.Lys112=) c.330G>A (p.Lys110=) c.-16G>A (n.-16G>A) c.106G>A (p.Asp36Asn) c.687-8023G>A (n.687-8023G>A) c.1308G>A (p.Lys436=) n.2545G>A n.995-2526G>A | gnomAD v4 |
9 | g.133436840G>C | CA375391449 | ADAMTS13 | c.1320G>C (p.Lys440Asn) c.1227G>C (p.Lys409Asn) c.576G>C (p.Lys192Asn) c.*124G>C (n.*124G>C) n.974-2526G>C c.*604G>C (n.*604G>C) n.993-2526G>C c.930G>C (p.Lys310Asn) c.336G>C (p.Lys112Asn) c.330G>C (p.Lys110Asn) c.-16G>C (n.-16G>C) c.106G>C (p.Asp36His) c.687-8023G>C (n.687-8023G>C) c.1308G>C (p.Lys436Asn) n.2545G>C n.995-2526G>C | |
9 | g.133436840G= | CA1882673109 | ADAMTS13 | c.1320G= (p.Lys440=) c.1227G= (p.Lys409=) c.576G= (p.Lys192=) c.*124G= (n.*124G=) n.974-2526G= c.*604G= (n.*604G=) n.993-2526G= c.930G= (p.Lys310=) c.336G= (p.Lys112=) c.330G= (p.Lys110=) c.-16G= (n.-16G=) c.106G= (p.Asp36=) c.687-8023G= (n.687-8023G=) c.1308G= (p.Lys436=) n.2545G= n.995-2526G= | |
9 | g.133436840G>T | CA375391450 | ADAMTS13 | c.1320G>T (p.Lys440Asn) c.1227G>T (p.Lys409Asn) c.576G>T (p.Lys192Asn) c.*124G>T (n.*124G>T) n.974-2526G>T c.*604G>T (n.*604G>T) n.993-2526G>T c.930G>T (p.Lys310Asn) c.336G>T (p.Lys112Asn) c.330G>T (p.Lys110Asn) c.-16G>T (n.-16G>T) c.106G>T (p.Asp36Tyr) c.687-8023G>T (n.687-8023G>T) c.1308G>T (p.Lys436Asn) n.2545G>T n.995-2526G>T | ClinVar dbSNP gnomAD v4 |
9 | g.133436841A>C | CA375391451 | ADAMTS13 | c.1321A>C (p.Thr441Pro) c.1228A>C (p.Thr410Pro) c.577A>C (p.Thr193Pro) c.*125A>C (n.*125A>C) n.974-2525A>C c.*605A>C (n.*605A>C) n.993-2525A>C c.931A>C (p.Thr311Pro) c.337A>C (p.Thr113Pro) c.331A>C (p.Thr111Pro) c.-15A>C (n.-15A>C) c.107A>C (p.Asp36Ala) c.687-8022A>C (n.687-8022A>C) c.1309A>C (p.Thr437Pro) n.2546A>C n.995-2525A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436841A>G | CA375391452 | ADAMTS13 | c.1321A>G (p.Thr441Ala) c.1228A>G (p.Thr410Ala) c.577A>G (p.Thr193Ala) c.*125A>G (n.*125A>G) n.974-2525A>G c.*605A>G (n.*605A>G) n.993-2525A>G c.931A>G (p.Thr311Ala) c.337A>G (p.Thr113Ala) c.331A>G (p.Thr111Ala) c.-15A>G (n.-15A>G) c.107A>G (p.Asp36Gly) c.687-8022A>G (n.687-8022A>G) c.1309A>G (p.Thr437Ala) n.2546A>G n.995-2525A>G | gnomAD v4 |
9 | g.133436841A>T | CA375391453 | ADAMTS13 | c.1321A>T (p.Thr441Ser) c.1228A>T (p.Thr410Ser) c.577A>T (p.Thr193Ser) c.*125A>T (n.*125A>T) n.974-2525A>T c.*605A>T (n.*605A>T) n.993-2525A>T c.931A>T (p.Thr311Ser) c.337A>T (p.Thr113Ser) c.331A>T (p.Thr111Ser) c.-15A>T (n.-15A>T) c.107A>T (p.Asp36Val) c.687-8022A>T (n.687-8022A>T) c.1309A>T (p.Thr437Ser) n.2546A>T n.995-2525A>T | 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.133436842C>A | CA375391454 | ADAMTS13 | c.1322C>A (p.Thr441Asn) c.1229C>A (p.Thr410Asn) c.578C>A (p.Thr193Asn) c.*126C>A (n.*126C>A) n.974-2524C>A c.*606C>A (n.*606C>A) n.993-2524C>A c.932C>A (p.Thr311Asn) c.338C>A (p.Thr113Asn) c.332C>A (p.Thr111Asn) c.-14C>A (n.-14C>A) c.108C>A (p.Asp36Glu) c.687-8021C>A (n.687-8021C>A) c.1310C>A (p.Thr437Asn) n.2547C>A n.995-2524C>A | gnomAD v4 |
9 | g.133436842C= | CA1882673110 | ADAMTS13 | c.1322C= (p.Thr441=) c.1229C= (p.Thr410=) c.578C= (p.Thr193=) c.*126C= (n.*126C=) n.974-2524C= c.*606C= (n.*606C=) n.993-2524C= c.932C= (p.Thr311=) c.338C= (p.Thr113=) c.332C= (p.Thr111=) c.-14C= (n.-14C=) c.108C= (p.Asp36=) c.687-8021C= (n.687-8021C=) c.1310C= (p.Thr437=) n.2547C= n.995-2524C= | |
9 | g.133436842C>G | CA200929543 | ADAMTS13 | c.1322C>G (p.Thr441Ser) c.1229C>G (p.Thr410Ser) c.578C>G (p.Thr193Ser) c.*126C>G (n.*126C>G) n.974-2524C>G c.*606C>G (n.*606C>G) n.993-2524C>G c.932C>G (p.Thr311Ser) c.338C>G (p.Thr113Ser) c.332C>G (p.Thr111Ser) c.-14C>G (n.-14C>G) c.108C>G (p.Asp36Glu) c.687-8021C>G (n.687-8021C>G) c.1310C>G (p.Thr437Ser) n.2547C>G n.995-2524C>G | dbSNP gnomAD v4 |
9 | g.133436842C>T | CA375391455 | ADAMTS13 | c.1322C>T (p.Thr441Ile) c.1229C>T (p.Thr410Ile) c.578C>T (p.Thr193Ile) c.*126C>T (n.*126C>T) n.974-2524C>T c.*606C>T (n.*606C>T) n.993-2524C>T c.932C>T (p.Thr311Ile) c.338C>T (p.Thr113Ile) c.332C>T (p.Thr111Ile) c.-14C>T (n.-14C>T) c.108C>T (p.Asp36=) c.687-8021C>T (n.687-8021C>T) c.1310C>T (p.Thr437Ile) n.2547C>T n.995-2524C>T | gnomAD v4 |
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 |
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.133436854T>A | CA375391501 | ADAMTS13 | c.1334T>A (p.Phe445Tyr) c.1241T>A (p.Phe414Tyr) c.590T>A (p.Phe197Tyr) c.*138T>A (n.*138T>A) n.974-2512T>A c.*618T>A (n.*618T>A) n.993-2512T>A c.944T>A (p.Phe315Tyr) c.350T>A (p.Phe117Tyr) c.344T>A (p.Phe115Tyr) c.-2T>A (n.-2T>A) c.120T>A (p.Val40=) c.687-8009T>A (n.687-8009T>A) c.1322T>A (p.Phe441Tyr) n.2559T>A n.995-2512T>A | |
9 | g.133436854T>C | CA375391503 | ADAMTS13 | c.1334T>C (p.Phe445Ser) c.1241T>C (p.Phe414Ser) c.590T>C (p.Phe197Ser) c.*138T>C (n.*138T>C) n.974-2512T>C c.*618T>C (n.*618T>C) n.993-2512T>C c.944T>C (p.Phe315Ser) c.350T>C (p.Phe117Ser) c.344T>C (p.Phe115Ser) c.-2T>C (n.-2T>C) c.120T>C (p.Val40=) c.687-8009T>C (n.687-8009T>C) c.1322T>C (p.Phe441Ser) n.2559T>C n.995-2512T>C | |
9 | g.133436854T>G | CA375391505 | ADAMTS13 | c.1334T>G (p.Phe445Cys) c.1241T>G (p.Phe414Cys) c.590T>G (p.Phe197Cys) c.*138T>G (n.*138T>G) n.974-2512T>G c.*618T>G (n.*618T>G) n.993-2512T>G c.944T>G (p.Phe315Cys) c.350T>G (p.Phe117Cys) c.344T>G (p.Phe115Cys) c.-2T>G (n.-2T>G) c.120T>G (p.Val40=) c.687-8009T>G (n.687-8009T>G) c.1322T>G (p.Phe441Cys) n.2559T>G n.995-2512T>G | |
9 | g.133436855del | CA2580079949 | ADAMTS13 | c.1335del (p.Phe445LeufsTer?) c.1242del (p.Phe414LeufsTer?) c.591del (p.Phe197LeufsTer?) c.*139del (n.*139del) n.974-2511del c.*619del (n.*619del) n.993-2511del c.945del (p.Phe315LeufsTer?) c.351del (p.Phe117LeufsTer?) c.345del (p.Phe115LeufsTer?) c.-1del (n.-1del) c.121del (p.His41MetfsTer?) c.687-8008del (n.687-8008del) c.1323del (p.Phe441LeufsTer?) n.2560del n.995-2511del | ClinVar gnomAD v4 |
9 | g.133436855C>A | CA375391510 | ADAMTS13 | c.1335C>A (p.Phe445Leu) c.1242C>A (p.Phe414Leu) c.591C>A (p.Phe197Leu) c.*139C>A (n.*139C>A) n.974-2511C>A c.*619C>A (n.*619C>A) n.993-2511C>A c.945C>A (p.Phe315Leu) c.351C>A (p.Phe117Leu) c.345C>A (p.Phe115Leu) c.-1C>A (n.-1C>A) c.121C>A (p.His41Asn) c.687-8008C>A (n.687-8008C>A) c.1323C>A (p.Phe441Leu) n.2560C>A n.995-2511C>A | gnomAD v4 |
9 | g.133436855C= | CA1882673118 | ADAMTS13 | c.1335C= (p.Phe445=) c.1242C= (p.Phe414=) c.591C= (p.Phe197=) c.*139C= (n.*139C=) n.974-2511C= c.*619C= (n.*619C=) n.993-2511C= c.945C= (p.Phe315=) c.351C= (p.Phe117=) c.345C= (p.Phe115=) c.-1C= (n.-1C=) c.121C= (p.His41=) c.687-8008C= (n.687-8008C=) c.1323C= (p.Phe441=) n.2560C= n.995-2511C= | |
9 | g.133436855C>G | CA375391509 | ADAMTS13 | c.1335C>G (p.Phe445Leu) c.1242C>G (p.Phe414Leu) c.591C>G (p.Phe197Leu) c.*139C>G (n.*139C>G) n.974-2511C>G c.*619C>G (n.*619C>G) n.993-2511C>G c.945C>G (p.Phe315Leu) c.351C>G (p.Phe117Leu) c.345C>G (p.Phe115Leu) c.-1C>G (n.-1C>G) c.121C>G (p.His41Asp) c.687-8008C>G (n.687-8008C>G) c.1323C>G (p.Phe441Leu) n.2560C>G n.995-2511C>G | gnomAD v4 |
9 | g.133436855C>T | CA200929574 | ADAMTS13 | c.1335C>T (p.Phe445=) c.1242C>T (p.Phe414=) c.591C>T (p.Phe197=) c.*139C>T (n.*139C>T) n.974-2511C>T c.*619C>T (n.*619C>T) n.993-2511C>T c.945C>T (p.Phe315=) c.351C>T (p.Phe117=) c.345C>T (p.Phe115=) c.-1C>T (n.-1C>T) c.121C>T (p.His41Tyr) c.687-8008C>T (n.687-8008C>T) c.1323C>T (p.Phe441=) n.2560C>T n.995-2511C>T | dbSNP gnomAD v4 |
9 | g.133436855_133436856del | CA2499219751 | ADAMTS13 | c.1335_1336del (p.Met446ValfsTer?) c.1242_1243del (p.Met415ValfsTer?) c.591_592del (p.Met198ValfsTer?) c.*139_*140del (n.*139_*140del) n.974-2511_974-2510del c.*619_*620del (n.*619_*620del) n.993-2511_993-2510del c.945_946del (p.Met316ValfsTer?) c.351_352del (p.Met118ValfsTer?) c.345_346del (p.Met116ValfsTer?) c.-1_1del c.121_122del (p.His41CysfsTer?) c.687-8008_687-8007del (n.687-8008_687-8007del) c.1323_1324del (p.Met442ValfsTer?) n.2560_2561del n.995-2511_995-2510del | ClinVar dbSNP |
9 | g.133436856A= | CA1882673119 | ADAMTS13 | c.1336A= (p.Met446=) c.1243A= (p.Met415=) c.592A= (p.Met198=) c.*140A= (n.*140A=) n.974-2510A= c.*620A= (n.*620A=) n.993-2510A= c.946A= (p.Met316=) c.352A= (p.Met118=) c.346A= (p.Met116=) c.1A= (p.Met1=) c.122A= (p.His41=) c.687-8007A= (n.687-8007A=) c.1324A= (p.Met442=) n.2561A= n.995-2510A= | |
9 | g.133436856A>C | CA375391512 | ADAMTS13 | c.1336A>C (p.Met446Leu) c.1243A>C (p.Met415Leu) c.592A>C (p.Met198Leu) c.*140A>C (n.*140A>C) n.974-2510A>C c.*620A>C (n.*620A>C) n.993-2510A>C c.946A>C (p.Met316Leu) c.352A>C (p.Met118Leu) c.346A>C (p.Met116Leu) c.1A>C (p.Met1Leu) c.122A>C (p.His41Pro) c.687-8007A>C (n.687-8007A>C) c.1324A>C (p.Met442Leu) n.2561A>C n.995-2510A>C | gnomAD v4 |
9 | g.133436856A>G | CA200929586 | ADAMTS13 | c.1336A>G (p.Met446Val) c.1243A>G (p.Met415Val) c.592A>G (p.Met198Val) c.*140A>G (n.*140A>G) n.974-2510A>G c.*620A>G (n.*620A>G) n.993-2510A>G c.946A>G (p.Met316Val) c.352A>G (p.Met118Val) c.346A>G (p.Met116Val) c.1A>G (p.Met1Val) c.122A>G (p.His41Arg) c.687-8007A>G (n.687-8007A>G) c.1324A>G (p.Met442Val) n.2561A>G n.995-2510A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436856A>T | CA375391515 | ADAMTS13 | c.1336A>T (p.Met446Leu) c.1243A>T (p.Met415Leu) c.592A>T (p.Met198Leu) c.*140A>T (n.*140A>T) n.974-2510A>T c.*620A>T (n.*620A>T) n.993-2510A>T c.946A>T (p.Met316Leu) c.352A>T (p.Met118Leu) c.346A>T (p.Met116Leu) c.1A>T (p.Met1Leu) c.122A>T (p.His41Leu) c.687-8007A>T (n.687-8007A>T) c.1324A>T (p.Met442Leu) n.2561A>T n.995-2510A>T | |
9 | g.133436857T>A | CA375391517 | ADAMTS13 | c.1337T>A (p.Met446Lys) c.1244T>A (p.Met415Lys) c.593T>A (p.Met198Lys) c.*141T>A (n.*141T>A) n.974-2509T>A c.*621T>A (n.*621T>A) n.993-2509T>A c.947T>A (p.Met316Lys) c.353T>A (p.Met118Lys) c.347T>A (p.Met116Lys) c.2T>A (p.Met1Lys) c.123T>A (p.His41Gln) c.687-8006T>A (n.687-8006T>A) c.1325T>A (p.Met442Lys) n.2562T>A n.995-2509T>A | gnomAD v4 |
9 | g.133436857T>C | CA375391519 | ADAMTS13 | c.1337T>C (p.Met446Thr) c.1244T>C (p.Met415Thr) c.593T>C (p.Met198Thr) c.*141T>C (n.*141T>C) n.974-2509T>C c.*621T>C (n.*621T>C) n.993-2509T>C c.947T>C (p.Met316Thr) c.353T>C (p.Met118Thr) c.347T>C (p.Met116Thr) c.2T>C (p.Met1Thr) c.123T>C (p.His41=) c.687-8006T>C (n.687-8006T>C) c.1325T>C (p.Met442Thr) n.2562T>C n.995-2509T>C | dbSNP gnomAD v4 |
9 | g.133436857T>G | CA375391521 | ADAMTS13 | c.1337T>G (p.Met446Arg) c.1244T>G (p.Met415Arg) c.593T>G (p.Met198Arg) c.*141T>G (n.*141T>G) n.974-2509T>G c.*621T>G (n.*621T>G) n.993-2509T>G c.947T>G (p.Met316Arg) c.353T>G (p.Met118Arg) c.347T>G (p.Met116Arg) c.2T>G (p.Met1Arg) c.123T>G (p.His41Gln) c.687-8006T>G (n.687-8006T>G) c.1325T>G (p.Met442Arg) n.2562T>G n.995-2509T>G | |
9 | g.133436857T= | CA1882673120 | ADAMTS13 | c.1337T= (p.Met446=) c.1244T= (p.Met415=) c.593T= (p.Met198=) c.*141T= (n.*141T=) n.974-2509T= c.*621T= (n.*621T=) n.993-2509T= c.947T= (p.Met316=) c.353T= (p.Met118=) c.347T= (p.Met116=) c.2T= (p.Met1=) c.123T= (p.His41=) c.687-8006T= (n.687-8006T=) c.1325T= (p.Met442=) n.2562T= n.995-2509T= | |
9 | g.133436858G>A | CA200929591 | ADAMTS13 | c.1338G>A (p.Met446Ile) c.1245G>A (p.Met415Ile) c.594G>A (p.Met198Ile) c.*142G>A (n.*142G>A) n.974-2508G>A c.*622G>A (n.*622G>A) n.993-2508G>A c.948G>A (p.Met316Ile) c.354G>A (p.Met118Ile) c.348G>A (p.Met116Ile) c.3G>A (p.Met1Ile) c.124G>A (p.Val42Ile) c.687-8005G>A (n.687-8005G>A) c.1326G>A (p.Met442Ile) n.2563G>A n.995-2508G>A | dbSNP gnomAD v4 |
9 | g.133436858G>C | CA375391523 | ADAMTS13 | c.1338G>C (p.Met446Ile) c.1245G>C (p.Met415Ile) c.594G>C (p.Met198Ile) c.*142G>C (n.*142G>C) n.974-2508G>C c.*622G>C (n.*622G>C) n.993-2508G>C c.948G>C (p.Met316Ile) c.354G>C (p.Met118Ile) c.348G>C (p.Met116Ile) c.3G>C (p.Met1Ile) c.124G>C (p.Val42Leu) c.687-8005G>C (n.687-8005G>C) c.1326G>C (p.Met442Ile) n.2563G>C n.995-2508G>C | gnomAD v4 |
9 | g.133436858G= | CA1882673121 | ADAMTS13 | c.1338G= (p.Met446=) c.1245G= (p.Met415=) c.594G= (p.Met198=) c.*142G= (n.*142G=) n.974-2508G= c.*622G= (n.*622G=) n.993-2508G= c.948G= (p.Met316=) c.354G= (p.Met118=) c.348G= (p.Met116=) c.3G= (p.Met1=) c.124G= (p.Val42=) c.687-8005G= (n.687-8005G=) c.1326G= (p.Met442=) n.2563G= n.995-2508G= | |
9 | g.133436858G>T | CA200929592 | ADAMTS13 | c.1338G>T (p.Met446Ile) c.1245G>T (p.Met415Ile) c.594G>T (p.Met198Ile) c.*142G>T (n.*142G>T) n.974-2508G>T c.*622G>T (n.*622G>T) n.993-2508G>T c.948G>T (p.Met316Ile) c.354G>T (p.Met118Ile) c.348G>T (p.Met116Ile) c.3G>T (p.Met1Ile) c.124G>T (p.Val42Phe) c.687-8005G>T (n.687-8005G>T) c.1326G>T (p.Met442Ile) n.2563G>T n.995-2508G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436859T>A | CA375391525 | ADAMTS13 | c.1339T>A (p.Ser447Thr) c.1246T>A (p.Ser416Thr) c.595T>A (p.Ser199Thr) c.*143T>A (n.*143T>A) n.974-2507T>A c.*623T>A (n.*623T>A) n.993-2507T>A c.949T>A (p.Ser317Thr) c.355T>A (p.Ser119Thr) c.349T>A (p.Ser117Thr) c.4T>A (p.Ser2Thr) c.125T>A (p.Val42Asp) c.687-8004T>A (n.687-8004T>A) c.1327T>A (p.Ser443Thr) n.2564T>A n.995-2507T>A | gnomAD v4 |
9 | g.133436859T>C | CA375391527 | ADAMTS13 | c.1339T>C (p.Ser447Pro) c.1246T>C (p.Ser416Pro) c.595T>C (p.Ser199Pro) c.*143T>C (n.*143T>C) n.974-2507T>C c.*623T>C (n.*623T>C) n.993-2507T>C c.949T>C (p.Ser317Pro) c.355T>C (p.Ser119Pro) c.349T>C (p.Ser117Pro) c.4T>C (p.Ser2Pro) c.125T>C (p.Val42Ala) c.687-8004T>C (n.687-8004T>C) c.1327T>C (p.Ser443Pro) n.2564T>C n.995-2507T>C | gnomAD v4 |
9 | g.133436859T>G | CA375391529 | ADAMTS13 | c.1339T>G (p.Ser447Ala) c.1246T>G (p.Ser416Ala) c.595T>G (p.Ser199Ala) c.*143T>G (n.*143T>G) n.974-2507T>G c.*623T>G (n.*623T>G) n.993-2507T>G c.949T>G (p.Ser317Ala) c.355T>G (p.Ser119Ala) c.349T>G (p.Ser117Ala) c.4T>G (p.Ser2Ala) c.125T>G (p.Val42Gly) c.687-8004T>G (n.687-8004T>G) c.1327T>G (p.Ser443Ala) n.2564T>G n.995-2507T>G | |
9 | g.133436860C>A | CA375391531 | ADAMTS13 | c.1340C>A (p.Ser447Ter) c.1247C>A (p.Ser416Ter) c.596C>A (p.Ser199Ter) c.*144C>A (n.*144C>A) n.974-2506C>A c.*624C>A (n.*624C>A) n.993-2506C>A c.950C>A (p.Ser317Ter) c.356C>A (p.Ser119Ter) c.350C>A (p.Ser117Ter) c.5C>A (p.Ser2Ter) c.126C>A (p.Val42=) c.687-8003C>A (n.687-8003C>A) c.1328C>A (p.Ser443Ter) n.2565C>A n.995-2506C>A | gnomAD v4 |
9 | g.133436860C= | CA1882673122 | ADAMTS13 | c.1340C= (p.Ser447=) c.1247C= (p.Ser416=) c.596C= (p.Ser199=) c.*144C= (n.*144C=) n.974-2506C= c.*624C= (n.*624C=) n.993-2506C= c.950C= (p.Ser317=) c.356C= (p.Ser119=) c.350C= (p.Ser117=) c.5C= (p.Ser2=) c.126C= (p.Val42=) c.687-8003C= (n.687-8003C=) c.1328C= (p.Ser443=) n.2565C= n.995-2506C= | |
9 | g.133436860C>G | CA375391532 | ADAMTS13 | c.1340C>G (p.Ser447Trp) c.1247C>G (p.Ser416Trp) c.596C>G (p.Ser199Trp) c.*144C>G (n.*144C>G) n.974-2506C>G c.*624C>G (n.*624C>G) n.993-2506C>G c.950C>G (p.Ser317Trp) c.356C>G (p.Ser119Trp) c.350C>G (p.Ser117Trp) c.5C>G (p.Ser2Trp) c.126C>G (p.Val42=) c.687-8003C>G (n.687-8003C>G) c.1328C>G (p.Ser443Trp) n.2565C>G n.995-2506C>G | |
9 | g.133436860C>T | CA200929593 | ADAMTS13 | c.1340C>T (p.Ser447Leu) c.1247C>T (p.Ser416Leu) c.596C>T (p.Ser199Leu) c.*144C>T (n.*144C>T) n.974-2506C>T c.*624C>T (n.*624C>T) n.993-2506C>T c.950C>T (p.Ser317Leu) c.356C>T (p.Ser119Leu) c.350C>T (p.Ser117Leu) c.5C>T (p.Ser2Leu) c.126C>T (p.Val42=) c.687-8003C>T (n.687-8003C>T) c.1328C>T (p.Ser443Leu) n.2565C>T n.995-2506C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436861G>A | CA10632751 | ADAMTS13 | c.1341G>A (p.Ser447=) c.1248G>A (p.Ser416=) c.597G>A (p.Ser199=) c.*145G>A (n.*145G>A) n.974-2505G>A c.*625G>A (n.*625G>A) n.993-2505G>A c.951G>A (p.Ser317=) c.357G>A (p.Ser119=) c.351G>A (p.Ser117=) c.6G>A (p.Ser2=) c.127G>A (p.Ala43Thr) c.687-8002G>A (n.687-8002G>A) c.1329G>A (p.Ser443=) n.2566G>A n.995-2505G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436861G>C | CA200929597 | ADAMTS13 | c.1341G>C (p.Ser447=) c.1248G>C (p.Ser416=) c.597G>C (p.Ser199=) c.*145G>C (n.*145G>C) n.974-2505G>C c.*625G>C (n.*625G>C) n.993-2505G>C c.951G>C (p.Ser317=) c.357G>C (p.Ser119=) c.351G>C (p.Ser117=) c.6G>C (p.Ser2=) c.127G>C (p.Ala43Pro) c.687-8002G>C (n.687-8002G>C) c.1329G>C (p.Ser443=) n.2566G>C n.995-2505G>C | dbSNP gnomAD v4 |
9 | g.133436861G= | CA1882673123 | ADAMTS13 | c.1341G= (p.Ser447=) c.1248G= (p.Ser416=) c.597G= (p.Ser199=) c.*145G= (n.*145G=) n.974-2505G= c.*625G= (n.*625G=) n.993-2505G= c.951G= (p.Ser317=) c.357G= (p.Ser119=) c.351G= (p.Ser117=) c.6G= (p.Ser2=) c.127G= (p.Ala43=) c.687-8002G= (n.687-8002G=) c.1329G= (p.Ser443=) n.2566G= n.995-2505G= | |
9 | g.133436861G>T | CA860755494 | ADAMTS13 | c.1341G>T (p.Ser447=) c.1248G>T (p.Ser416=) c.597G>T (p.Ser199=) c.*145G>T (n.*145G>T) n.974-2505G>T c.*625G>T (n.*625G>T) n.993-2505G>T c.951G>T (p.Ser317=) c.357G>T (p.Ser119=) c.351G>T (p.Ser117=) c.6G>T (p.Ser2=) c.127G>T (p.Ala43Ser) c.687-8002G>T (n.687-8002G>T) c.1329G>T (p.Ser443=) n.2566G>T n.995-2505G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436862del | CA2692371084 | ADAMTS13 | c.1342del (p.Gln448AsnfsTer?) c.1249del (p.Gln417AsnfsTer?) c.598del (p.Gln200AsnfsTer?) c.*146del (n.*146del) n.974-2504del c.*626del (n.*626del) n.993-2504del c.952del (p.Gln318AsnfsTer?) c.358del (p.Gln120AsnfsTer?) c.352del (p.Gln118AsnfsTer?) c.7del (p.Gln3AsnfsTer?) c.128del (p.Ala43GlufsTer?) c.687-8001del (n.687-8001del) c.1330del (p.Gln444AsnfsTer?) n.2567del n.995-2504del | gnomAD v4 |
9 | g.133436862C>A | CA375391537 | ADAMTS13 | c.1342C>A (p.Gln448Lys) c.1249C>A (p.Gln417Lys) c.598C>A (p.Gln200Lys) c.*146C>A (n.*146C>A) n.974-2504C>A c.*626C>A (n.*626C>A) n.993-2504C>A c.952C>A (p.Gln318Lys) c.358C>A (p.Gln120Lys) c.352C>A (p.Gln118Lys) c.7C>A (p.Gln3Lys) c.128C>A (p.Ala43Glu) c.687-8001C>A (n.687-8001C>A) c.1330C>A (p.Gln444Lys) n.2567C>A n.995-2504C>A | dbSNP gnomAD v4 |
9 | g.133436862C= | CA1882673124 | ADAMTS13 | c.1342C= (p.Gln448=) c.1249C= (p.Gln417=) c.598C= (p.Gln200=) c.*146C= (n.*146C=) n.974-2504C= c.*626C= (n.*626C=) n.993-2504C= c.952C= (p.Gln318=) c.358C= (p.Gln120=) c.352C= (p.Gln118=) c.7C= (p.Gln3=) c.128C= (p.Ala43=) c.687-8001C= (n.687-8001C=) c.1330C= (p.Gln444=) n.2567C= n.995-2504C= | |
9 | g.133436862C>G | CA358426 | ADAMTS13 | c.1342C>G (p.Gln448Glu) c.1249C>G (p.Gln417Glu) c.598C>G (p.Gln200Glu) c.*146C>G (n.*146C>G) n.974-2504C>G c.*626C>G (n.*626C>G) n.993-2504C>G c.952C>G (p.Gln318Glu) c.358C>G (p.Gln120Glu) c.352C>G (p.Gln118Glu) c.7C>G (p.Gln3Glu) c.128C>G (p.Ala43Gly) c.687-8001C>G (n.687-8001C>G) c.1330C>G (p.Gln444Glu) n.2567C>G n.995-2504C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
9 | g.[133436862C>G;133437836G>A] | CA645372491 | ADAMTS13 | c.[1342C>G;1523G>A] (p.[Gln448Glu;Cys508Tyr]) c.[1249C>G;1430G>A] (p.[Gln417Glu;Cys477Tyr]) c.[598C>G;779G>A] (p.[Gln200Glu;Cys260Tyr]) c.[*146C>G;*327G>A] (n.[*146C>G;*327G>A]) n.[974-2504C>G;974-1530G>A] c.[*626C>G;*807G>A] (n.[*626C>G;*807G>A]) n.[993-2504C>G;993-1530G>A] c.[952C>G;1133G>A] (p.[Gln318Glu;Cys378Tyr]) c.[358C>G;539G>A] (p.[Gln120Glu;Cys180Tyr]) c.[352C>G;533G>A] (p.[Gln118Glu;Cys178Tyr]) c.[7C>G;188G>A] (p.[Gln3Glu;Cys63Tyr]) c.[128C>G;309G>A] (p.[Ala43Gly;Val103=]) c.[687-8001C>G;687-7027G>A] (n.[687-8001C>G;687-7027G>A]) c.[1330C>G;1511G>A] (p.[Gln444Glu;Cys504Tyr]) n.[2567C>G;2748G>A] n.[995-2504C>G;995-1530G>A] | |
9 | g.133436862C>T | CA375391540 | ADAMTS13 | c.1342C>T (p.Gln448Ter) c.1249C>T (p.Gln417Ter) c.598C>T (p.Gln200Ter) c.*146C>T (n.*146C>T) n.974-2504C>T c.*626C>T (n.*626C>T) n.993-2504C>T c.952C>T (p.Gln318Ter) c.358C>T (p.Gln120Ter) c.352C>T (p.Gln118Ter) c.7C>T (p.Gln3Ter) c.128C>T (p.Ala43Val) c.687-8001C>T (n.687-8001C>T) c.1330C>T (p.Gln444Ter) n.2567C>T n.995-2504C>T | gnomAD v4 |
9 | g.133436863A= | CA1882673125 | ADAMTS13 | c.1343A= (p.Gln448=) c.1250A= (p.Gln417=) c.599A= (p.Gln200=) c.*147A= (n.*147A=) n.974-2503A= c.*627A= (n.*627A=) n.993-2503A= c.953A= (p.Gln318=) c.359A= (p.Gln120=) c.353A= (p.Gln118=) c.8A= (p.Gln3=) c.129A= (p.Ala43=) c.687-8000A= (n.687-8000A=) c.1331A= (p.Gln444=) n.2568A= n.995-2503A= | |
9 | g.133436863A>C | CA375391542 | ADAMTS13 | c.1343A>C (p.Gln448Pro) c.1250A>C (p.Gln417Pro) c.599A>C (p.Gln200Pro) c.*147A>C (n.*147A>C) n.974-2503A>C c.*627A>C (n.*627A>C) n.993-2503A>C c.953A>C (p.Gln318Pro) c.359A>C (p.Gln120Pro) c.353A>C (p.Gln118Pro) c.8A>C (p.Gln3Pro) c.129A>C (p.Ala43=) c.687-8000A>C (n.687-8000A>C) c.1331A>C (p.Gln444Pro) n.2568A>C n.995-2503A>C | dbSNP |
9 | g.133436863A>G | CA375391546 | ADAMTS13 | c.1343A>G (p.Gln448Arg) c.1250A>G (p.Gln417Arg) c.599A>G (p.Gln200Arg) c.*147A>G (n.*147A>G) n.974-2503A>G c.*627A>G (n.*627A>G) n.993-2503A>G c.953A>G (p.Gln318Arg) c.359A>G (p.Gln120Arg) c.353A>G (p.Gln118Arg) c.8A>G (p.Gln3Arg) c.129A>G (p.Ala43=) c.687-8000A>G (n.687-8000A>G) c.1331A>G (p.Gln444Arg) n.2568A>G n.995-2503A>G | gnomAD v4 |
9 | g.133436863A>T | CA375391544 | ADAMTS13 | c.1343A>T (p.Gln448Leu) c.1250A>T (p.Gln417Leu) c.599A>T (p.Gln200Leu) c.*147A>T (n.*147A>T) n.974-2503A>T c.*627A>T (n.*627A>T) n.993-2503A>T c.953A>T (p.Gln318Leu) c.359A>T (p.Gln120Leu) c.353A>T (p.Gln118Leu) c.8A>T (p.Gln3Leu) c.129A>T (p.Ala43=) c.687-8000A>T (n.687-8000A>T) c.1331A>T (p.Gln444Leu) n.2568A>T n.995-2503A>T | |
9 | g.133436864A>C | CA375391548 | ADAMTS13 | c.1344A>C (p.Gln448His) c.1251A>C (p.Gln417His) c.600A>C (p.Gln200His) c.*148A>C (n.*148A>C) n.974-2502A>C c.*628A>C (n.*628A>C) n.993-2502A>C c.954A>C (p.Gln318His) c.360A>C (p.Gln120His) c.354A>C (p.Gln118His) c.9A>C (p.Gln3His) c.130A>C (p.Thr44Pro) c.687-7999A>C (n.687-7999A>C) c.1332A>C (p.Gln444His) n.2569A>C n.995-2502A>C | |
9 | g.133436864A>T | CA375391550 | ADAMTS13 | c.1344A>T (p.Gln448His) c.1251A>T (p.Gln417His) c.600A>T (p.Gln200His) c.*148A>T (n.*148A>T) n.974-2502A>T c.*628A>T (n.*628A>T) n.993-2502A>T c.954A>T (p.Gln318His) c.360A>T (p.Gln120His) c.354A>T (p.Gln118His) c.9A>T (p.Gln3His) c.130A>T (p.Thr44Ser) c.687-7999A>T (n.687-7999A>T) c.1332A>T (p.Gln444His) n.2569A>T n.995-2502A>T | |
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 |
9 | g.133436876G>C | CA375391606 | ADAMTS13 | c.1356G>C (p.Arg452Ser) c.1263G>C (p.Arg421Ser) c.612G>C (p.Arg204Ser) c.*160G>C (n.*160G>C) n.974-2490G>C c.*640G>C (n.*640G>C) n.993-2490G>C c.966G>C (p.Arg322Ser) c.372G>C (p.Arg124Ser) c.366G>C (p.Arg122Ser) c.21G>C (p.Arg7Ser) c.142G>C (p.Asp48His) c.687-7987G>C (n.687-7987G>C) c.1344G>C (p.Arg448Ser) n.2581G>C n.995-2490G>C | |
9 | g.133436876G= | CA1882673134 | ADAMTS13 | c.1356G= (p.Arg452=) c.1263G= (p.Arg421=) c.612G= (p.Arg204=) c.*160G= (n.*160G=) n.974-2490G= c.*640G= (n.*640G=) n.993-2490G= c.966G= (p.Arg322=) c.372G= (p.Arg124=) c.366G= (p.Arg122=) c.21G= (p.Arg7=) c.142G= (p.Asp48=) c.687-7987G= (n.687-7987G=) c.1344G= (p.Arg448=) n.2581G= n.995-2490G= | |
9 | g.133436876G>T | CA375391608 | ADAMTS13 | c.1356G>T (p.Arg452Ser) c.1263G>T (p.Arg421Ser) c.612G>T (p.Arg204Ser) c.*160G>T (n.*160G>T) n.974-2490G>T c.*640G>T (n.*640G>T) n.993-2490G>T c.966G>T (p.Arg322Ser) c.372G>T (p.Arg124Ser) c.366G>T (p.Arg122Ser) c.21G>T (p.Arg7Ser) c.142G>T (p.Asp48Tyr) c.687-7987G>T (n.687-7987G>T) c.1344G>T (p.Arg448Ser) n.2581G>T n.995-2490G>T | gnomAD v4 |
9 | g.133436877A>C | CA375391610 | ADAMTS13 | c.1357A>C (p.Thr453Pro) c.1264A>C (p.Thr422Pro) c.613A>C (p.Thr205Pro) c.*161A>C (n.*161A>C) n.974-2489A>C c.*641A>C (n.*641A>C) n.993-2489A>C c.967A>C (p.Thr323Pro) c.373A>C (p.Thr125Pro) c.367A>C (p.Thr123Pro) c.22A>C (p.Thr8Pro) c.143A>C (p.Asp48Ala) c.687-7986A>C (n.687-7986A>C) c.1345A>C (p.Thr449Pro) n.2582A>C n.995-2489A>C | |
9 | g.133436877A>G | CA375391613 | ADAMTS13 | c.1357A>G (p.Thr453Ala) c.1264A>G (p.Thr422Ala) c.613A>G (p.Thr205Ala) c.*161A>G (n.*161A>G) n.974-2489A>G c.*641A>G (n.*641A>G) n.993-2489A>G c.967A>G (p.Thr323Ala) c.373A>G (p.Thr125Ala) c.367A>G (p.Thr123Ala) c.22A>G (p.Thr8Ala) c.143A>G (p.Asp48Gly) c.687-7986A>G (n.687-7986A>G) c.1345A>G (p.Thr449Ala) n.2582A>G n.995-2489A>G | gnomAD v4 |
9 | g.133436877A>T | CA375391614 | ADAMTS13 | c.1357A>T (p.Thr453Ser) c.1264A>T (p.Thr422Ser) c.613A>T (p.Thr205Ser) c.*161A>T (n.*161A>T) n.974-2489A>T c.*641A>T (n.*641A>T) n.993-2489A>T c.967A>T (p.Thr323Ser) c.373A>T (p.Thr125Ser) c.367A>T (p.Thr123Ser) c.22A>T (p.Thr8Ser) c.143A>T (p.Asp48Val) c.687-7986A>T (n.687-7986A>T) c.1345A>T (p.Thr449Ser) n.2582A>T n.995-2489A>T | gnomAD v4 |
9 | g.133436877_133436879del | CA2692371145 | ADAMTS13 | c.1357_1359del (p.Thr453del) c.1264_1266del (p.Thr422del) c.613_615del (p.Thr205del) c.*161_*163del (n.*161_*163del) n.974-2489_974-2487del c.*641_*643del (n.*641_*643del) n.993-2489_993-2487del c.967_969del (p.Thr323del) c.373_375del (p.Thr125del) c.367_369del (p.Thr123del) c.22_24del (p.Thr8del) c.143_145del (p.Asp48_Arg49delinsGly) c.687-7986_687-7984del (n.687-7986_687-7984del) c.1345_1347del (p.Thr449del) n.2582_2584del n.995-2489_995-2487del | gnomAD v4 |
9 | g.133436877_133436882del | CA2692371147 | ADAMTS13 | c.1357_1362del (p.Thr453_Asp454del) c.1264_1269del (p.Thr422_Asp423del) c.613_618del (p.Thr205_Asp206del) c.*161_*166del (n.*161_*166del) n.974-2489_974-2484del c.*641_*646del (n.*641_*646del) n.993-2489_993-2484del c.967_972del (p.Thr323_Asp324del) c.373_378del (p.Thr125_Asp126del) c.367_372del (p.Thr123_Asp124del) c.22_27del (p.Thr8_Asp9del) c.143_148del (p.Asp48_Arg50delinsGly) c.687-7986_687-7981del (n.687-7986_687-7981del) c.1345_1350del (p.Thr449_Asp450del) n.2582_2587del n.995-2489_995-2484del | gnomAD v4 |
9 | g.133436878C>A | CA375391617 | ADAMTS13 | c.1358C>A (p.Thr453Asn) c.1265C>A (p.Thr422Asn) c.614C>A (p.Thr205Asn) c.*162C>A (n.*162C>A) n.974-2488C>A c.*642C>A (n.*642C>A) n.993-2488C>A c.968C>A (p.Thr323Asn) c.374C>A (p.Thr125Asn) c.368C>A (p.Thr123Asn) c.23C>A (p.Thr8Asn) c.144C>A (p.Asp48Glu) c.687-7985C>A (n.687-7985C>A) c.1346C>A (p.Thr449Asn) n.2583C>A n.995-2488C>A | |
9 | g.133436878C>G | CA375391619 | ADAMTS13 | c.1358C>G (p.Thr453Ser) c.1265C>G (p.Thr422Ser) c.614C>G (p.Thr205Ser) c.*162C>G (n.*162C>G) n.974-2488C>G c.*642C>G (n.*642C>G) n.993-2488C>G c.968C>G (p.Thr323Ser) c.374C>G (p.Thr125Ser) c.368C>G (p.Thr123Ser) c.23C>G (p.Thr8Ser) c.144C>G (p.Asp48Glu) c.687-7985C>G (n.687-7985C>G) c.1346C>G (p.Thr449Ser) n.2583C>G n.995-2488C>G | |
9 | g.133436878C>T | CA375391620 | ADAMTS13 | c.1358C>T (p.Thr453Ile) c.1265C>T (p.Thr422Ile) c.614C>T (p.Thr205Ile) c.*162C>T (n.*162C>T) n.974-2488C>T c.*642C>T (n.*642C>T) n.993-2488C>T c.968C>T (p.Thr323Ile) c.374C>T (p.Thr125Ile) c.368C>T (p.Thr123Ile) c.23C>T (p.Thr8Ile) c.144C>T (p.Asp48=) c.687-7985C>T (n.687-7985C>T) c.1346C>T (p.Thr449Ile) n.2583C>T n.995-2488C>T | gnomAD v4 |
9 | g.133436879C>A | CA2692371157 | ADAMTS13 | c.1359C>A (p.Thr453=) c.1266C>A (p.Thr422=) c.615C>A (p.Thr205=) c.*163C>A (n.*163C>A) n.974-2487C>A c.*643C>A (n.*643C>A) n.993-2487C>A c.969C>A (p.Thr323=) c.375C>A (p.Thr125=) c.369C>A (p.Thr123=) c.24C>A (p.Thr8=) c.145C>A (p.Arg49=) c.687-7984C>A (n.687-7984C>A) c.1347C>A (p.Thr449=) n.2584C>A n.995-2487C>A | gnomAD v4 |
9 | g.133436879C= | CA1882673135 | ADAMTS13 | c.1359C= (p.Thr453=) c.1266C= (p.Thr422=) c.615C= (p.Thr205=) c.*163C= (n.*163C=) n.974-2487C= c.*643C= (n.*643C=) n.993-2487C= c.969C= (p.Thr323=) c.375C= (p.Thr125=) c.369C= (p.Thr123=) c.24C= (p.Thr8=) c.145C= (p.Arg49=) c.687-7984C= (n.687-7984C=) c.1347C= (p.Thr449=) n.2584C= n.995-2487C= | |
9 | g.133436879C>T | CA10632754 | ADAMTS13 | c.1359C>T (p.Thr453=) c.1266C>T (p.Thr422=) c.615C>T (p.Thr205=) c.*163C>T (n.*163C>T) n.974-2487C>T c.*643C>T (n.*643C>T) n.993-2487C>T c.969C>T (p.Thr323=) c.375C>T (p.Thr125=) c.369C>T (p.Thr123=) c.24C>T (p.Thr8=) c.145C>T (p.Arg49Ter) c.687-7984C>T (n.687-7984C>T) c.1347C>T (p.Thr449=) n.2584C>T n.995-2487C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436880G>A | CA200929628 | ADAMTS13 | c.1360G>A (p.Asp454Asn) c.1267G>A (p.Asp423Asn) c.616G>A (p.Asp206Asn) c.*164G>A (n.*164G>A) n.974-2486G>A c.*644G>A (n.*644G>A) n.993-2486G>A c.970G>A (p.Asp324Asn) c.376G>A (p.Asp126Asn) c.370G>A (p.Asp124Asn) c.25G>A (p.Asp9Asn) c.146G>A (p.Arg49Gln) c.687-7983G>A (n.687-7983G>A) c.1348G>A (p.Asp450Asn) n.2585G>A n.995-2486G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436880G>C | CA200929631 | ADAMTS13 | c.1360G>C (p.Asp454His) c.1267G>C (p.Asp423His) c.616G>C (p.Asp206His) c.*164G>C (n.*164G>C) n.974-2486G>C c.*644G>C (n.*644G>C) n.993-2486G>C c.970G>C (p.Asp324His) c.376G>C (p.Asp126His) c.370G>C (p.Asp124His) c.25G>C (p.Asp9His) c.146G>C (p.Arg49Pro) c.687-7983G>C (n.687-7983G>C) c.1348G>C (p.Asp450His) n.2585G>C n.995-2486G>C | dbSNP gnomAD v4 |
9 | g.133436880G= | CA1882673136 | ADAMTS13 | c.1360G= (p.Asp454=) c.1267G= (p.Asp423=) c.616G= (p.Asp206=) c.*164G= (n.*164G=) n.974-2486G= c.*644G= (n.*644G=) n.993-2486G= c.970G= (p.Asp324=) c.376G= (p.Asp126=) c.370G= (p.Asp124=) c.25G= (p.Asp9=) c.146G= (p.Arg49=) c.687-7983G= (n.687-7983G=) c.1348G= (p.Asp450=) n.2585G= n.995-2486G= | |
9 | g.133436880G>T | CA375391625 | ADAMTS13 | c.1360G>T (p.Asp454Tyr) c.1267G>T (p.Asp423Tyr) c.616G>T (p.Asp206Tyr) c.*164G>T (n.*164G>T) n.974-2486G>T c.*644G>T (n.*644G>T) n.993-2486G>T c.970G>T (p.Asp324Tyr) c.376G>T (p.Asp126Tyr) c.370G>T (p.Asp124Tyr) c.25G>T (p.Asp9Tyr) c.146G>T (p.Arg49Leu) c.687-7983G>T (n.687-7983G>T) c.1348G>T (p.Asp450Tyr) n.2585G>T n.995-2486G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436881del | CA2692371165 | ADAMTS13 | c.1361del (p.Asp454AlafsTer?) c.1268del (p.Asp423AlafsTer?) c.617del (p.Asp206AlafsTer?) c.*165del (n.*165del) n.974-2485del c.*645del (n.*645del) n.993-2485del c.971del (p.Asp324AlafsTer?) c.377del (p.Asp126AlafsTer?) c.371del (p.Asp124AlafsTer?) c.26del (p.Asp9AlafsTer?) c.147del (p.Arg50GlyfsTer?) c.687-7982del (n.687-7982del) c.1349del (p.Asp450AlafsTer?) n.2586del n.995-2485del | gnomAD v4 |
9 | g.133436881A>C | CA375391631 | ADAMTS13 | c.1361A>C (p.Asp454Ala) c.1268A>C (p.Asp423Ala) c.617A>C (p.Asp206Ala) c.*165A>C (n.*165A>C) n.974-2485A>C c.*645A>C (n.*645A>C) n.993-2485A>C c.971A>C (p.Asp324Ala) c.377A>C (p.Asp126Ala) c.371A>C (p.Asp124Ala) c.26A>C (p.Asp9Ala) c.147A>C (p.Arg49=) c.687-7982A>C (n.687-7982A>C) c.1349A>C (p.Asp450Ala) n.2586A>C n.995-2485A>C | |
9 | g.133436881A>G | CA375391628 | ADAMTS13 | c.1361A>G (p.Asp454Gly) c.1268A>G (p.Asp423Gly) c.617A>G (p.Asp206Gly) c.*165A>G (n.*165A>G) n.974-2485A>G c.*645A>G (n.*645A>G) n.993-2485A>G c.971A>G (p.Asp324Gly) c.377A>G (p.Asp126Gly) c.371A>G (p.Asp124Gly) c.26A>G (p.Asp9Gly) c.147A>G (p.Arg49=) c.687-7982A>G (n.687-7982A>G) c.1349A>G (p.Asp450Gly) n.2586A>G n.995-2485A>G | gnomAD v4 |
9 | g.133436881A>T | CA375391627 | ADAMTS13 | c.1361A>T (p.Asp454Val) c.1268A>T (p.Asp423Val) c.617A>T (p.Asp206Val) c.*165A>T (n.*165A>T) n.974-2485A>T c.*645A>T (n.*645A>T) n.993-2485A>T c.971A>T (p.Asp324Val) c.377A>T (p.Asp126Val) c.371A>T (p.Asp124Val) c.26A>T (p.Asp9Val) c.147A>T (p.Arg49=) c.687-7982A>T (n.687-7982A>T) c.1349A>T (p.Asp450Val) n.2586A>T n.995-2485A>T | |
9 | g.133436882C>A | CA375391633 | ADAMTS13 | c.1362C>A (p.Asp454Glu) c.1269C>A (p.Asp423Glu) c.618C>A (p.Asp206Glu) c.*166C>A (n.*166C>A) n.974-2484C>A c.*646C>A (n.*646C>A) n.993-2484C>A c.972C>A (p.Asp324Glu) c.378C>A (p.Asp126Glu) c.372C>A (p.Asp124Glu) c.27C>A (p.Asp9Glu) c.148C>A (p.Arg50=) c.687-7981C>A (n.687-7981C>A) c.1350C>A (p.Asp450Glu) n.2587C>A n.995-2484C>A | dbSNP gnomAD v4 |
9 | g.133436882C= | CA1882673137 | ADAMTS13 | c.1362C= (p.Asp454=) c.1269C= (p.Asp423=) c.618C= (p.Asp206=) c.*166C= (n.*166C=) n.974-2484C= c.*646C= (n.*646C=) n.993-2484C= c.972C= (p.Asp324=) c.378C= (p.Asp126=) c.372C= (p.Asp124=) c.27C= (p.Asp9=) c.148C= (p.Arg50=) c.687-7981C= (n.687-7981C=) c.1350C= (p.Asp450=) n.2587C= n.995-2484C= | |
9 | g.133436882C>G | CA375391635 | ADAMTS13 | c.1362C>G (p.Asp454Glu) c.1269C>G (p.Asp423Glu) c.618C>G (p.Asp206Glu) c.*166C>G (n.*166C>G) n.974-2484C>G c.*646C>G (n.*646C>G) n.993-2484C>G c.972C>G (p.Asp324Glu) c.378C>G (p.Asp126Glu) c.372C>G (p.Asp124Glu) c.27C>G (p.Asp9Glu) c.148C>G (p.Arg50Gly) c.687-7981C>G (n.687-7981C>G) c.1350C>G (p.Asp450Glu) n.2587C>G n.995-2484C>G | gnomAD v4 |
9 | g.133436882C>T | CA200929639 | ADAMTS13 | c.1362C>T (p.Asp454=) c.1269C>T (p.Asp423=) c.618C>T (p.Asp206=) c.*166C>T (n.*166C>T) n.974-2484C>T c.*646C>T (n.*646C>T) n.993-2484C>T c.972C>T (p.Asp324=) c.378C>T (p.Asp126=) c.372C>T (p.Asp124=) c.27C>T (p.Asp9=) c.148C>T (p.Arg50Trp) c.687-7981C>T (n.687-7981C>T) c.1350C>T (p.Asp450=) n.2587C>T n.995-2484C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436883G>A | CA200929645 | ADAMTS13 | c.1363G>A (p.Gly455Ser) c.1270G>A (p.Gly424Ser) c.619G>A (p.Gly207Ser) c.*167G>A (n.*167G>A) n.974-2483G>A c.*647G>A (n.*647G>A) n.993-2483G>A c.973G>A (p.Gly325Ser) c.379G>A (p.Gly127Ser) c.373G>A (p.Gly125Ser) c.28G>A (p.Gly10Ser) c.149G>A (p.Arg50Gln) c.687-7980G>A (n.687-7980G>A) c.1351G>A (p.Gly451Ser) n.2588G>A n.995-2483G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436883G>C | CA200929651 | ADAMTS13 | c.1363G>C (p.Gly455Arg) c.1270G>C (p.Gly424Arg) c.619G>C (p.Gly207Arg) c.*167G>C (n.*167G>C) n.974-2483G>C c.*647G>C (n.*647G>C) n.993-2483G>C c.973G>C (p.Gly325Arg) c.379G>C (p.Gly127Arg) c.373G>C (p.Gly125Arg) c.28G>C (p.Gly10Arg) c.149G>C (p.Arg50Pro) c.687-7980G>C (n.687-7980G>C) c.1351G>C (p.Gly451Arg) n.2588G>C n.995-2483G>C | dbSNP gnomAD v4 |
9 | g.133436883G= | CA1882673138 | ADAMTS13 | c.1363G= (p.Gly455=) c.1270G= (p.Gly424=) c.619G= (p.Gly207=) c.*167G= (n.*167G=) n.974-2483G= c.*647G= (n.*647G=) n.993-2483G= c.973G= (p.Gly325=) c.379G= (p.Gly127=) c.373G= (p.Gly125=) c.28G= (p.Gly10=) c.149G= (p.Arg50=) c.687-7980G= (n.687-7980G=) c.1351G= (p.Gly451=) n.2588G= n.995-2483G= | |
9 | g.133436883G>T | CA375391641 | ADAMTS13 | c.1363G>T (p.Gly455Cys) c.1270G>T (p.Gly424Cys) c.619G>T (p.Gly207Cys) c.*167G>T (n.*167G>T) n.974-2483G>T c.*647G>T (n.*647G>T) n.993-2483G>T c.973G>T (p.Gly325Cys) c.379G>T (p.Gly127Cys) c.373G>T (p.Gly125Cys) c.28G>T (p.Gly10Cys) c.149G>T (p.Arg50Leu) c.687-7980G>T (n.687-7980G>T) c.1351G>T (p.Gly451Cys) n.2588G>T n.995-2483G>T | dbSNP gnomAD v4 COSMIC |
9 | g.133436884G>A | CA375391643 | ADAMTS13 | c.1364G>A (p.Gly455Asp) c.1271G>A (p.Gly424Asp) c.620G>A (p.Gly207Asp) c.*168G>A (n.*168G>A) n.974-2482G>A c.*648G>A (n.*648G>A) n.993-2482G>A c.974G>A (p.Gly325Asp) c.380G>A (p.Gly127Asp) c.374G>A (p.Gly125Asp) c.29G>A (p.Gly10Asp) c.150G>A (p.Arg50=) c.687-7979G>A (n.687-7979G>A) c.1352G>A (p.Gly451Asp) n.2589G>A n.995-2482G>A | gnomAD v4 |
9 | g.133436884G>C | CA375391644 | ADAMTS13 | c.1364G>C (p.Gly455Ala) c.1271G>C (p.Gly424Ala) c.620G>C (p.Gly207Ala) c.*168G>C (n.*168G>C) n.974-2482G>C c.*648G>C (n.*648G>C) n.993-2482G>C c.974G>C (p.Gly325Ala) c.380G>C (p.Gly127Ala) c.374G>C (p.Gly125Ala) c.29G>C (p.Gly10Ala) c.150G>C (p.Arg50=) c.687-7979G>C (n.687-7979G>C) c.1352G>C (p.Gly451Ala) n.2589G>C n.995-2482G>C | |
9 | g.133436884G>T | CA375391646 | ADAMTS13 | c.1364G>T (p.Gly455Val) c.1271G>T (p.Gly424Val) c.620G>T (p.Gly207Val) c.*168G>T (n.*168G>T) n.974-2482G>T c.*648G>T (n.*648G>T) n.993-2482G>T c.974G>T (p.Gly325Val) c.380G>T (p.Gly127Val) c.374G>T (p.Gly125Val) c.29G>T (p.Gly10Val) c.150G>T (p.Arg50=) c.687-7979G>T (n.687-7979G>T) c.1352G>T (p.Gly451Val) n.2589G>T n.995-2482G>T | gnomAD v4 |
9 | g.133436885C>A | CA2692371208 | ADAMTS13 | c.1365C>A (p.Gly455=) c.1272C>A (p.Gly424=) c.621C>A (p.Gly207=) c.*169C>A (n.*169C>A) n.974-2481C>A c.*649C>A (n.*649C>A) n.993-2481C>A c.975C>A (p.Gly325=) c.381C>A (p.Gly127=) c.375C>A (p.Gly125=) c.30C>A (p.Gly10=) c.151C>A (p.Pro51Thr) c.687-7978C>A (n.687-7978C>A) c.1353C>A (p.Gly451=) n.2590C>A n.995-2481C>A | gnomAD v4 |
9 | g.133436885C>T | CA2692371212 | ADAMTS13 | c.1365C>T (p.Gly455=) c.1272C>T (p.Gly424=) c.621C>T (p.Gly207=) c.*169C>T (n.*169C>T) n.974-2481C>T c.*649C>T (n.*649C>T) n.993-2481C>T c.975C>T (p.Gly325=) c.381C>T (p.Gly127=) c.375C>T (p.Gly125=) c.30C>T (p.Gly10=) c.151C>T (p.Pro51Ser) c.687-7978C>T (n.687-7978C>T) c.1353C>T (p.Gly451=) n.2590C>T n.995-2481C>T | gnomAD v4 |
9 | g.133436885_133436887del | CA2692371193 | ADAMTS13 | c.1365_1367del (p.Gln456del) c.1272_1274del (p.Gln425del) c.621_623del (p.Gln208del) c.*169_*171del (n.*169_*171del) n.974-2481_974-2479del c.*649_*651del (n.*649_*651del) n.993-2481_993-2479del c.975_977del (p.Gln326del) c.381_383del (p.Gln128del) c.375_377del (p.Gln126del) c.30_32del (p.Gln11del) c.151_153del (p.Pro51del) c.687-7978_687-7976del (n.687-7978_687-7976del) c.1353_1355del (p.Gln452del) n.2590_2592del n.995-2481_995-2479del | gnomAD v4 |
9 | g.133436885_133436890del | CA2692371195 | ADAMTS13 | c.1365_1370del (p.Gln456_Pro457del) c.1272_1277del (p.Gln425_Pro426del) c.621_626del (p.Gln208_Pro209del) c.*169_*174del (n.*169_*174del) n.974-2481_974-2476del c.*649_*654del (n.*649_*654del) n.993-2481_993-2476del c.975_980del (p.Gln326_Pro327del) c.381_386del (p.Gln128_Pro129del) c.375_380del (p.Gln126_Pro127del) c.30_35del (p.Gln11_Pro12del) c.151_156del (p.Pro51_Ala52del) c.687-7978_687-7973del (n.687-7978_687-7973del) c.1353_1358del (p.Gln452_Pro453del) n.2590_2595del n.995-2481_995-2476del | gnomAD v4 |
9 | g.133436885_133436893del | CA2692371198 | ADAMTS13 | c.1365_1373del (p.Gln456_Leu458del) c.1272_1280del (p.Gln425_Leu427del) c.621_629del (p.Gln208_Leu210del) c.*169_*177del (n.*169_*177del) n.974-2481_974-2473del c.*649_*657del (n.*649_*657del) n.993-2481_993-2473del c.975_983del (p.Gln326_Leu328del) c.381_389del (p.Gln128_Leu130del) c.375_383del (p.Gln126_Leu128del) c.30_38del (p.Gln11_Leu13del) c.151_159del (p.Pro51_Ala53del) c.687-7978_687-7970del (n.687-7978_687-7970del) c.1353_1361del (p.Gln452_Leu454del) n.2590_2598del n.995-2481_995-2473del | gnomAD v4 |
9 | g.133436885_133436906del | CA2573050851 | ADAMTS13 | c.1365_1386del (p.Gln456AlafsTer?) c.1272_1293del (p.Gln425AlafsTer?) c.621_642del (p.Gln208AlafsTer?) c.*169_*190del (n.*169_*190del) n.974-2481_974-2460del c.*649_*670del (n.*649_*670del) n.993-2481_993-2460del c.975_996del (p.Gln326AlafsTer?) c.381_402del (p.Gln128AlafsTer?) c.375_396del (p.Gln126AlafsTer?) c.30_51del (p.Gln11AlafsTer?) c.151_172del (p.Pro51GlyfsTer?) c.687-7978_687-7957del (n.687-7978_687-7957del) c.1353_1374del (p.Gln452AlafsTer?) n.2590_2611del n.995-2481_995-2460del | gnomAD v4 |
9 | g.133436885_133436928del | CA2692371206 | ADAMTS13 | c.1365_1408del (p.Gln456GlyfsTer?) c.1272_1315del (p.Gln425GlyfsTer?) c.621_664del (p.Gln208GlyfsTer?) c.*169_*212del (n.*169_*212del) n.974-2481_974-2438del c.*649_*692del (n.*649_*692del) n.993-2481_993-2438del c.975_1018del (p.Gln326GlyfsTer?) c.381_424del (p.Gln128GlyfsTer?) c.375_418del (p.Gln126GlyfsTer?) c.30_73del (p.Gln11GlyfsTer?) c.151_194del (p.Pro51GlyfsTer27) c.687-7978_687-7935del (n.687-7978_687-7935del) c.1353_1396del (p.Gln452GlyfsTer?) n.2590_2633del n.995-2481_995-2438del | gnomAD v4 |
9 | g.133436886C>A | CA375391648 | ADAMTS13 | c.1366C>A (p.Gln456Lys) c.1273C>A (p.Gln425Lys) c.622C>A (p.Gln208Lys) c.*170C>A (n.*170C>A) n.974-2480C>A c.*650C>A (n.*650C>A) n.993-2480C>A c.976C>A (p.Gln326Lys) c.382C>A (p.Gln128Lys) c.376C>A (p.Gln126Lys) c.31C>A (p.Gln11Lys) c.152C>A (p.Pro51Gln) c.687-7977C>A (n.687-7977C>A) c.1354C>A (p.Gln452Lys) n.2591C>A n.995-2480C>A | gnomAD v4 |
9 | g.133436886C= | CA1882673139 | ADAMTS13 | c.1366C= (p.Gln456=) c.1273C= (p.Gln425=) c.622C= (p.Gln208=) c.*170C= (n.*170C=) n.974-2480C= c.*650C= (n.*650C=) n.993-2480C= c.976C= (p.Gln326=) c.382C= (p.Gln128=) c.376C= (p.Gln126=) c.31C= (p.Gln11=) c.152C= (p.Pro51=) c.687-7977C= (n.687-7977C=) c.1354C= (p.Gln452=) n.2591C= n.995-2480C= | |
9 | g.133436886C>G | CA200929654 | ADAMTS13 | c.1366C>G (p.Gln456Glu) c.1273C>G (p.Gln425Glu) c.622C>G (p.Gln208Glu) c.*170C>G (n.*170C>G) n.974-2480C>G c.*650C>G (n.*650C>G) n.993-2480C>G c.976C>G (p.Gln326Glu) c.382C>G (p.Gln128Glu) c.376C>G (p.Gln126Glu) c.31C>G (p.Gln11Glu) c.152C>G (p.Pro51Arg) c.687-7977C>G (n.687-7977C>G) c.1354C>G (p.Gln452Glu) n.2591C>G n.995-2480C>G | ClinVar dbSNP gnomAD v4 |
9 | g.133436886C>T | CA375391651 | ADAMTS13 | c.1366C>T (p.Gln456Ter) c.1273C>T (p.Gln425Ter) c.622C>T (p.Gln208Ter) c.*170C>T (n.*170C>T) n.974-2480C>T c.*650C>T (n.*650C>T) n.993-2480C>T c.976C>T (p.Gln326Ter) c.382C>T (p.Gln128Ter) c.376C>T (p.Gln126Ter) c.31C>T (p.Gln11Ter) c.152C>T (p.Pro51Leu) c.687-7977C>T (n.687-7977C>T) c.1354C>T (p.Gln452Ter) n.2591C>T n.995-2480C>T | gnomAD v4 |
9 | g.133436887A>C | CA375391653 | ADAMTS13 | c.1367A>C (p.Gln456Pro) c.1274A>C (p.Gln425Pro) c.623A>C (p.Gln208Pro) c.*171A>C (n.*171A>C) n.974-2479A>C c.*651A>C (n.*651A>C) n.993-2479A>C c.977A>C (p.Gln326Pro) c.383A>C (p.Gln128Pro) c.377A>C (p.Gln126Pro) c.32A>C (p.Gln11Pro) c.153A>C (p.Pro51=) c.687-7976A>C (n.687-7976A>C) c.1355A>C (p.Gln452Pro) n.2592A>C n.995-2479A>C | |
9 | g.133436887A>G | CA375391656 | ADAMTS13 | c.1367A>G (p.Gln456Arg) c.1274A>G (p.Gln425Arg) c.623A>G (p.Gln208Arg) c.*171A>G (n.*171A>G) n.974-2479A>G c.*651A>G (n.*651A>G) n.993-2479A>G c.977A>G (p.Gln326Arg) c.383A>G (p.Gln128Arg) c.377A>G (p.Gln126Arg) c.32A>G (p.Gln11Arg) c.153A>G (p.Pro51=) c.687-7976A>G (n.687-7976A>G) c.1355A>G (p.Gln452Arg) n.2592A>G n.995-2479A>G | gnomAD v4 |
9 | g.133436887A>T | CA375391654 | ADAMTS13 | c.1367A>T (p.Gln456Leu) c.1274A>T (p.Gln425Leu) c.623A>T (p.Gln208Leu) c.*171A>T (n.*171A>T) n.974-2479A>T c.*651A>T (n.*651A>T) n.993-2479A>T c.977A>T (p.Gln326Leu) c.383A>T (p.Gln128Leu) c.377A>T (p.Gln126Leu) c.32A>T (p.Gln11Leu) c.153A>T (p.Pro51=) c.687-7976A>T (n.687-7976A>T) c.1355A>T (p.Gln452Leu) n.2592A>T n.995-2479A>T | |
9 | g.133436888G>A | CA2692371238 | ADAMTS13 | c.1368G>A (p.Gln456=) c.1275G>A (p.Gln425=) c.624G>A (p.Gln208=) c.*172G>A (n.*172G>A) n.974-2478G>A c.*652G>A (n.*652G>A) n.993-2478G>A c.978G>A (p.Gln326=) c.384G>A (p.Gln128=) c.378G>A (p.Gln126=) c.33G>A (p.Gln11=) c.154G>A (p.Ala52Thr) c.687-7975G>A (n.687-7975G>A) c.1356G>A (p.Gln452=) n.2593G>A n.995-2478G>A | gnomAD v4 |
9 | g.133436888G>C | CA375391658 | ADAMTS13 | c.1368G>C (p.Gln456His) c.1275G>C (p.Gln425His) c.624G>C (p.Gln208His) c.*172G>C (n.*172G>C) n.974-2478G>C c.*652G>C (n.*652G>C) n.993-2478G>C c.978G>C (p.Gln326His) c.384G>C (p.Gln128His) c.378G>C (p.Gln126His) c.33G>C (p.Gln11His) c.154G>C (p.Ala52Pro) c.687-7975G>C (n.687-7975G>C) c.1356G>C (p.Gln452His) n.2593G>C n.995-2478G>C | |
9 | g.133436888G= | CA1882673140 | ADAMTS13 | c.1368G= (p.Gln456=) c.1275G= (p.Gln425=) c.624G= (p.Gln208=) c.*172G= (n.*172G=) n.974-2478G= c.*652G= (n.*652G=) n.993-2478G= c.978G= (p.Gln326=) c.384G= (p.Gln128=) c.378G= (p.Gln126=) c.33G= (p.Gln11=) c.154G= (p.Ala52=) c.687-7975G= (n.687-7975G=) c.1356G= (p.Gln452=) n.2593G= n.995-2478G= | |
9 | g.133436888G>T | CA10587032 | ADAMTS13 | c.1368G>T (p.Gln456His) c.1275G>T (p.Gln425His) c.624G>T (p.Gln208His) c.*172G>T (n.*172G>T) n.974-2478G>T c.*652G>T (n.*652G>T) n.993-2478G>T c.978G>T (p.Gln326His) c.384G>T (p.Gln128His) c.378G>T (p.Gln126His) c.33G>T (p.Gln11His) c.154G>T (p.Ala52Ser) c.687-7975G>T (n.687-7975G>T) c.1356G>T (p.Gln452His) n.2593G>T n.995-2478G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436889C>A | CA375391661 | ADAMTS13 | c.1369C>A (p.Pro457Thr) c.1276C>A (p.Pro426Thr) c.625C>A (p.Pro209Thr) c.*173C>A (n.*173C>A) n.974-2477C>A c.*653C>A (n.*653C>A) n.993-2477C>A c.979C>A (p.Pro327Thr) c.385C>A (p.Pro129Thr) c.379C>A (p.Pro127Thr) c.34C>A (p.Pro12Thr) c.155C>A (p.Ala52Asp) c.687-7974C>A (n.687-7974C>A) c.1357C>A (p.Pro453Thr) n.2594C>A n.995-2477C>A | gnomAD v4 |
9 | g.133436889C>G | CA375391665 | ADAMTS13 | c.1369C>G (p.Pro457Ala) c.1276C>G (p.Pro426Ala) c.625C>G (p.Pro209Ala) c.*173C>G (n.*173C>G) n.974-2477C>G c.*653C>G (n.*653C>G) n.993-2477C>G c.979C>G (p.Pro327Ala) c.385C>G (p.Pro129Ala) c.379C>G (p.Pro127Ala) c.34C>G (p.Pro12Ala) c.155C>G (p.Ala52Gly) c.687-7974C>G (n.687-7974C>G) c.1357C>G (p.Pro453Ala) n.2594C>G n.995-2477C>G | gnomAD v4 |
9 | g.133436889C>T | CA375391663 | ADAMTS13 | c.1369C>T (p.Pro457Ser) c.1276C>T (p.Pro426Ser) c.625C>T (p.Pro209Ser) c.*173C>T (n.*173C>T) n.974-2477C>T c.*653C>T (n.*653C>T) n.993-2477C>T c.979C>T (p.Pro327Ser) c.385C>T (p.Pro129Ser) c.379C>T (p.Pro127Ser) c.34C>T (p.Pro12Ser) c.155C>T (p.Ala52Val) c.687-7974C>T (n.687-7974C>T) c.1357C>T (p.Pro453Ser) n.2594C>T n.995-2477C>T | gnomAD v4 |
9 | g.133436890C>A | CA375391668 | ADAMTS13 | c.1370C>A (p.Pro457Gln) c.1277C>A (p.Pro426Gln) c.626C>A (p.Pro209Gln) c.*174C>A (n.*174C>A) n.974-2476C>A c.*654C>A (n.*654C>A) n.993-2476C>A c.980C>A (p.Pro327Gln) c.386C>A (p.Pro129Gln) c.380C>A (p.Pro127Gln) c.35C>A (p.Pro12Gln) c.156C>A (p.Ala52=) c.687-7973C>A (n.687-7973C>A) c.1358C>A (p.Pro453Gln) n.2595C>A n.995-2476C>A | gnomAD v4 |
9 | g.133436890C= | CA1882673141 | ADAMTS13 | c.1370C= (p.Pro457=) c.1277C= (p.Pro426=) c.626C= (p.Pro209=) c.*174C= (n.*174C=) n.974-2476C= c.*654C= (n.*654C=) n.993-2476C= c.980C= (p.Pro327=) c.386C= (p.Pro129=) c.380C= (p.Pro127=) c.35C= (p.Pro12=) c.156C= (p.Ala52=) c.687-7973C= (n.687-7973C=) c.1358C= (p.Pro453=) n.2595C= n.995-2476C= | |
9 | g.133436890C>G | CA375391670 | ADAMTS13 | c.1370C>G (p.Pro457Arg) c.1277C>G (p.Pro426Arg) c.626C>G (p.Pro209Arg) c.*174C>G (n.*174C>G) n.974-2476C>G c.*654C>G (n.*654C>G) n.993-2476C>G c.980C>G (p.Pro327Arg) c.386C>G (p.Pro129Arg) c.380C>G (p.Pro127Arg) c.35C>G (p.Pro12Arg) c.156C>G (p.Ala52=) c.687-7973C>G (n.687-7973C>G) c.1358C>G (p.Pro453Arg) n.2595C>G n.995-2476C>G | gnomAD v4 |
9 | g.133436890C>T | CA10626723 | ADAMTS13 | c.1370C>T (p.Pro457Leu) c.1277C>T (p.Pro426Leu) c.626C>T (p.Pro209Leu) c.*174C>T (n.*174C>T) n.974-2476C>T c.*654C>T (n.*654C>T) n.993-2476C>T c.980C>T (p.Pro327Leu) c.386C>T (p.Pro129Leu) c.380C>T (p.Pro127Leu) c.35C>T (p.Pro12Leu) c.156C>T (p.Ala52=) c.687-7973C>T (n.687-7973C>T) c.1358C>T (p.Pro453Leu) n.2595C>T n.995-2476C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436891G>A | CA200929655 | ADAMTS13 | c.1371G>A (p.Pro457=) c.1278G>A (p.Pro426=) c.627G>A (p.Pro209=) c.*175G>A (n.*175G>A) n.974-2475G>A c.*655G>A (n.*655G>A) n.993-2475G>A c.981G>A (p.Pro327=) c.387G>A (p.Pro129=) c.381G>A (p.Pro127=) c.36G>A (p.Pro12=) c.157G>A (p.Ala53Thr) c.687-7972G>A (n.687-7972G>A) c.1359G>A (p.Pro453=) n.2596G>A n.995-2475G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436891G= | CA1882673142 | ADAMTS13 | c.1371G= (p.Pro457=) c.1278G= (p.Pro426=) c.627G= (p.Pro209=) c.*175G= (n.*175G=) n.974-2475G= c.*655G= (n.*655G=) n.993-2475G= c.981G= (p.Pro327=) c.387G= (p.Pro129=) c.381G= (p.Pro127=) c.36G= (p.Pro12=) c.157G= (p.Ala53=) c.687-7972G= (n.687-7972G=) c.1359G= (p.Pro453=) n.2596G= n.995-2475G= | |
9 | g.133436891G>T | CA2692371269 | ADAMTS13 | c.1371G>T (p.Pro457=) c.1278G>T (p.Pro426=) c.627G>T (p.Pro209=) c.*175G>T (n.*175G>T) n.974-2475G>T c.*655G>T (n.*655G>T) n.993-2475G>T c.981G>T (p.Pro327=) c.387G>T (p.Pro129=) c.381G>T (p.Pro127=) c.36G>T (p.Pro12=) c.157G>T (p.Ala53Ser) c.687-7972G>T (n.687-7972G>T) c.1359G>T (p.Pro453=) n.2596G>T n.995-2475G>T | gnomAD v4 |
9 | g.133436892C>A | CA375391675 | ADAMTS13 | c.1372C>A (p.Leu458Met) c.1279C>A (p.Leu427Met) c.628C>A (p.Leu210Met) c.*176C>A (n.*176C>A) n.974-2474C>A c.*656C>A (n.*656C>A) n.993-2474C>A c.982C>A (p.Leu328Met) c.388C>A (p.Leu130Met) c.382C>A (p.Leu128Met) c.37C>A (p.Leu13Met) c.158C>A (p.Ala53Asp) c.687-7971C>A (n.687-7971C>A) c.1360C>A (p.Leu454Met) n.2597C>A n.995-2474C>A | dbSNP gnomAD v4 |
9 | g.133436892C= | CA1882673143 | ADAMTS13 | c.1372C= (p.Leu458=) c.1279C= (p.Leu427=) c.628C= (p.Leu210=) c.*176C= (n.*176C=) n.974-2474C= c.*656C= (n.*656C=) n.993-2474C= c.982C= (p.Leu328=) c.388C= (p.Leu130=) c.382C= (p.Leu128=) c.37C= (p.Leu13=) c.158C= (p.Ala53=) c.687-7971C= (n.687-7971C=) c.1360C= (p.Leu454=) n.2597C= n.995-2474C= | |
9 | g.133436892C>G | CA375391673 | ADAMTS13 | c.1372C>G (p.Leu458Val) c.1279C>G (p.Leu427Val) c.628C>G (p.Leu210Val) c.*176C>G (n.*176C>G) n.974-2474C>G c.*656C>G (n.*656C>G) n.993-2474C>G c.982C>G (p.Leu328Val) c.388C>G (p.Leu130Val) c.382C>G (p.Leu128Val) c.37C>G (p.Leu13Val) c.158C>G (p.Ala53Gly) c.687-7971C>G (n.687-7971C>G) c.1360C>G (p.Leu454Val) n.2597C>G n.995-2474C>G | gnomAD v4 |
9 | g.133436892C>T | CA2692371277 | ADAMTS13 | c.1372C>T (p.Leu458=) c.1279C>T (p.Leu427=) c.628C>T (p.Leu210=) c.*176C>T (n.*176C>T) n.974-2474C>T c.*656C>T (n.*656C>T) n.993-2474C>T c.982C>T (p.Leu328=) c.388C>T (p.Leu130=) c.382C>T (p.Leu128=) c.37C>T (p.Leu13=) c.158C>T (p.Ala53Val) c.687-7971C>T (n.687-7971C>T) c.1360C>T (p.Leu454=) n.2597C>T n.995-2474C>T | gnomAD v4 |
9 | g.133436893T>A | CA375391678 | ADAMTS13 | c.1373T>A (p.Leu458Gln) c.1280T>A (p.Leu427Gln) c.629T>A (p.Leu210Gln) c.*177T>A (n.*177T>A) n.974-2473T>A c.*657T>A (n.*657T>A) n.993-2473T>A c.983T>A (p.Leu328Gln) c.389T>A (p.Leu130Gln) c.383T>A (p.Leu128Gln) c.38T>A (p.Leu13Gln) c.159T>A (p.Ala53=) c.687-7970T>A (n.687-7970T>A) c.1361T>A (p.Leu454Gln) n.2598T>A n.995-2473T>A | gnomAD v4 |
9 | g.133436893T>C | CA375391677 | ADAMTS13 | c.1373T>C (p.Leu458Pro) c.1280T>C (p.Leu427Pro) c.629T>C (p.Leu210Pro) c.*177T>C (n.*177T>C) n.974-2473T>C c.*657T>C (n.*657T>C) n.993-2473T>C c.983T>C (p.Leu328Pro) c.389T>C (p.Leu130Pro) c.383T>C (p.Leu128Pro) c.38T>C (p.Leu13Pro) c.159T>C (p.Ala53=) c.687-7970T>C (n.687-7970T>C) c.1361T>C (p.Leu454Pro) n.2598T>C n.995-2473T>C | gnomAD v4 |
9 | g.133436893T>G | CA375391680 | ADAMTS13 | c.1373T>G (p.Leu458Arg) c.1280T>G (p.Leu427Arg) c.629T>G (p.Leu210Arg) c.*177T>G (n.*177T>G) n.974-2473T>G c.*657T>G (n.*657T>G) n.993-2473T>G c.983T>G (p.Leu328Arg) c.389T>G (p.Leu130Arg) c.383T>G (p.Leu128Arg) c.38T>G (p.Leu13Arg) c.159T>G (p.Ala53=) c.687-7970T>G (n.687-7970T>G) c.1361T>G (p.Leu454Arg) n.2598T>G n.995-2473T>G | gnomAD v4 |
9 | g.133436894G>A | CA2692371282 | ADAMTS13 | c.1374G>A (p.Leu458=) c.1281G>A (p.Leu427=) c.630G>A (p.Leu210=) c.*178G>A (n.*178G>A) n.974-2472G>A c.*658G>A (n.*658G>A) n.993-2472G>A c.984G>A (p.Leu328=) c.390G>A (p.Leu130=) c.384G>A (p.Leu128=) c.39G>A (p.Leu13=) c.160G>A (p.Ala54Thr) c.687-7969G>A (n.687-7969G>A) c.1362G>A (p.Leu454=) n.2599G>A n.995-2472G>A | gnomAD v4 |
9 | g.133436895C>A | CA375391683 | ADAMTS13 | c.1375C>A (p.Arg459Ser) c.1282C>A (p.Arg428Ser) c.631C>A (p.Arg211Ser) c.*179C>A (n.*179C>A) n.974-2471C>A c.*659C>A (n.*659C>A) n.993-2471C>A c.985C>A (p.Arg329Ser) c.391C>A (p.Arg131Ser) c.385C>A (p.Arg129Ser) c.40C>A (p.Arg14Ser) c.161C>A (p.Ala54Glu) c.687-7968C>A (n.687-7968C>A) c.1363C>A (p.Arg455Ser) n.2600C>A n.995-2471C>A | gnomAD v4 |
9 | g.133436895C= | CA1882673144 | ADAMTS13 | c.1375C= (p.Arg459=) c.1282C= (p.Arg428=) c.631C= (p.Arg211=) c.*179C= (n.*179C=) n.974-2471C= c.*659C= (n.*659C=) n.993-2471C= c.985C= (p.Arg329=) c.391C= (p.Arg131=) c.385C= (p.Arg129=) c.40C= (p.Arg14=) c.161C= (p.Ala54=) c.687-7968C= (n.687-7968C=) c.1363C= (p.Arg455=) n.2600C= n.995-2471C= | |
9 | g.133436895C>G | CA200929658 | ADAMTS13 | c.1375C>G (p.Arg459Gly) c.1282C>G (p.Arg428Gly) c.631C>G (p.Arg211Gly) c.*179C>G (n.*179C>G) n.974-2471C>G c.*659C>G (n.*659C>G) n.993-2471C>G c.985C>G (p.Arg329Gly) c.391C>G (p.Arg131Gly) c.385C>G (p.Arg129Gly) c.40C>G (p.Arg14Gly) c.161C>G (p.Ala54Gly) c.687-7968C>G (n.687-7968C>G) c.1363C>G (p.Arg455Gly) n.2600C>G n.995-2471C>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436895C>T | CA375391684 | ADAMTS13 | c.1375C>T (p.Arg459Cys) c.1282C>T (p.Arg428Cys) c.631C>T (p.Arg211Cys) c.*179C>T (n.*179C>T) n.974-2471C>T c.*659C>T (n.*659C>T) n.993-2471C>T c.985C>T (p.Arg329Cys) c.391C>T (p.Arg131Cys) c.385C>T (p.Arg129Cys) c.40C>T (p.Arg14Cys) c.161C>T (p.Ala54Val) c.687-7968C>T (n.687-7968C>T) c.1363C>T (p.Arg455Cys) n.2600C>T n.995-2471C>T | dbSNP gnomAD v4 |
9 | g.133436896G>A | CA200929663 | ADAMTS13 | c.1376G>A (p.Arg459His) c.1283G>A (p.Arg428His) c.632G>A (p.Arg211His) c.*180G>A (n.*180G>A) n.974-2470G>A c.*660G>A (n.*660G>A) n.993-2470G>A c.986G>A (p.Arg329His) c.392G>A (p.Arg131His) c.386G>A (p.Arg129His) c.41G>A (p.Arg14His) c.162G>A (p.Ala54=) c.687-7967G>A (n.687-7967G>A) c.1364G>A (p.Arg455His) n.2601G>A n.995-2470G>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436896G>C | CA375391687 | ADAMTS13 | c.1376G>C (p.Arg459Pro) c.1283G>C (p.Arg428Pro) c.632G>C (p.Arg211Pro) c.*180G>C (n.*180G>C) n.974-2470G>C c.*660G>C (n.*660G>C) n.993-2470G>C c.986G>C (p.Arg329Pro) c.392G>C (p.Arg131Pro) c.386G>C (p.Arg129Pro) c.41G>C (p.Arg14Pro) c.162G>C (p.Ala54=) c.687-7967G>C (n.687-7967G>C) c.1364G>C (p.Arg455Pro) n.2601G>C n.995-2470G>C | dbSNP gnomAD v4 |
9 | g.133436896G= | CA1882673145 | ADAMTS13 | c.1376G= (p.Arg459=) c.1283G= (p.Arg428=) c.632G= (p.Arg211=) c.*180G= (n.*180G=) n.974-2470G= c.*660G= (n.*660G=) n.993-2470G= c.986G= (p.Arg329=) c.392G= (p.Arg131=) c.386G= (p.Arg129=) c.41G= (p.Arg14=) c.162G= (p.Ala54=) c.687-7967G= (n.687-7967G=) c.1364G= (p.Arg455=) n.2601G= n.995-2470G= | |
9 | g.133436896G>T | CA200929664 | ADAMTS13 | c.1376G>T (p.Arg459Leu) c.1283G>T (p.Arg428Leu) c.632G>T (p.Arg211Leu) c.*180G>T (n.*180G>T) n.974-2470G>T c.*660G>T (n.*660G>T) n.993-2470G>T c.986G>T (p.Arg329Leu) c.392G>T (p.Arg131Leu) c.386G>T (p.Arg129Leu) c.41G>T (p.Arg14Leu) c.162G>T (p.Ala54=) c.687-7967G>T (n.687-7967G>T) c.1364G>T (p.Arg455Leu) n.2601G>T n.995-2470G>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436897C>A | CA2692371295 | ADAMTS13 | c.1377C>A (p.Arg459=) c.1284C>A (p.Arg428=) c.633C>A (p.Arg211=) c.*181C>A (n.*181C>A) n.974-2469C>A c.*661C>A (n.*661C>A) n.993-2469C>A c.987C>A (p.Arg329=) c.393C>A (p.Arg131=) c.387C>A (p.Arg129=) c.42C>A (p.Arg14=) c.163C>A (p.Leu55Ile) c.687-7966C>A (n.687-7966C>A) c.1365C>A (p.Arg455=) n.2602C>A n.995-2469C>A | gnomAD v4 |
9 | g.133436897C= | CA1882673146 | ADAMTS13 | c.1377C= (p.Arg459=) c.1284C= (p.Arg428=) c.633C= (p.Arg211=) c.*181C= (n.*181C=) n.974-2469C= c.*661C= (n.*661C=) n.993-2469C= c.987C= (p.Arg329=) c.393C= (p.Arg131=) c.387C= (p.Arg129=) c.42C= (p.Arg14=) c.163C= (p.Leu55=) c.687-7966C= (n.687-7966C=) c.1365C= (p.Arg455=) n.2602C= n.995-2469C= | |
9 | g.133436897C>T | CA645564042 | ADAMTS13 | c.1377C>T (p.Arg459=) c.1284C>T (p.Arg428=) c.633C>T (p.Arg211=) c.*181C>T (n.*181C>T) n.974-2469C>T c.*661C>T (n.*661C>T) n.993-2469C>T c.987C>T (p.Arg329=) c.393C>T (p.Arg131=) c.387C>T (p.Arg129=) c.42C>T (p.Arg14=) c.163C>T (p.Leu55Phe) c.687-7966C>T (n.687-7966C>T) c.1365C>T (p.Arg455=) n.2602C>T n.995-2469C>T | dbSNP gnomAD v4 COSMIC |
9 | g.133436897_133436906del | CA2573050852 | ADAMTS13 | c.1377_1386del (p.Ser460AlafsTer?) c.1284_1293del (p.Ser429AlafsTer?) c.633_642del (p.Ser212AlafsTer?) c.*181_*190del (n.*181_*190del) n.974-2469_974-2460del c.*661_*670del (n.*661_*670del) n.993-2469_993-2460del c.987_996del (p.Ser330AlafsTer?) c.393_402del (p.Ser132AlafsTer?) c.387_396del (p.Ser130AlafsTer?) c.42_51del (p.Ser15AlafsTer?) c.163_172del (p.Leu55GlyfsTer?) c.687-7966_687-7957del (n.687-7966_687-7957del) c.1365_1374del (p.Ser456AlafsTer?) n.2602_2611del n.995-2469_995-2460del | gnomAD v4 |
9 | g.133436898T>A | CA375391689 | ADAMTS13 | c.1378T>A (p.Ser460Thr) c.1285T>A (p.Ser429Thr) c.634T>A (p.Ser212Thr) c.*182T>A (n.*182T>A) n.974-2468T>A c.*662T>A (n.*662T>A) n.993-2468T>A c.988T>A (p.Ser330Thr) c.394T>A (p.Ser132Thr) c.388T>A (p.Ser130Thr) c.43T>A (p.Ser15Thr) c.164T>A (p.Leu55His) c.687-7965T>A (n.687-7965T>A) c.1366T>A (p.Ser456Thr) n.2603T>A n.995-2468T>A | |
9 | g.133436898T>C | CA375391691 | ADAMTS13 | c.1378T>C (p.Ser460Pro) c.1285T>C (p.Ser429Pro) c.634T>C (p.Ser212Pro) c.*182T>C (n.*182T>C) n.974-2468T>C c.*662T>C (n.*662T>C) n.993-2468T>C c.988T>C (p.Ser330Pro) c.394T>C (p.Ser132Pro) c.388T>C (p.Ser130Pro) c.43T>C (p.Ser15Pro) c.164T>C (p.Leu55Pro) c.687-7965T>C (n.687-7965T>C) c.1366T>C (p.Ser456Pro) n.2603T>C n.995-2468T>C | |
9 | g.133436898T>G | CA375391692 | ADAMTS13 | c.1378T>G (p.Ser460Ala) c.1285T>G (p.Ser429Ala) c.634T>G (p.Ser212Ala) c.*182T>G (n.*182T>G) n.974-2468T>G c.*662T>G (n.*662T>G) n.993-2468T>G c.988T>G (p.Ser330Ala) c.394T>G (p.Ser132Ala) c.388T>G (p.Ser130Ala) c.43T>G (p.Ser15Ala) c.164T>G (p.Leu55Arg) c.687-7965T>G (n.687-7965T>G) c.1366T>G (p.Ser456Ala) n.2603T>G n.995-2468T>G | gnomAD v4 |
9 | g.133436899C>A | CA375391695 | ADAMTS13 | c.1379C>A (p.Ser460Tyr) c.1286C>A (p.Ser429Tyr) c.635C>A (p.Ser212Tyr) c.*183C>A (n.*183C>A) n.974-2467C>A c.*663C>A (n.*663C>A) n.993-2467C>A c.989C>A (p.Ser330Tyr) c.395C>A (p.Ser132Tyr) c.389C>A (p.Ser130Tyr) c.44C>A (p.Ser15Tyr) c.165C>A (p.Leu55=) c.687-7964C>A (n.687-7964C>A) c.1367C>A (p.Ser456Tyr) n.2604C>A n.995-2467C>A | gnomAD v4 |
9 | g.133436899C= | CA1882673147 | ADAMTS13 | c.1379C= (p.Ser460=) c.1286C= (p.Ser429=) c.635C= (p.Ser212=) c.*183C= (n.*183C=) n.974-2467C= c.*663C= (n.*663C=) n.993-2467C= c.989C= (p.Ser330=) c.395C= (p.Ser132=) c.389C= (p.Ser130=) c.44C= (p.Ser15=) c.165C= (p.Leu55=) c.687-7964C= (n.687-7964C=) c.1367C= (p.Ser456=) n.2604C= n.995-2467C= | |
9 | g.133436899C>G | CA375391697 | ADAMTS13 | c.1379C>G (p.Ser460Cys) c.1286C>G (p.Ser429Cys) c.635C>G (p.Ser212Cys) c.*183C>G (n.*183C>G) n.974-2467C>G c.*663C>G (n.*663C>G) n.993-2467C>G c.989C>G (p.Ser330Cys) c.395C>G (p.Ser132Cys) c.389C>G (p.Ser130Cys) c.44C>G (p.Ser15Cys) c.165C>G (p.Leu55=) c.687-7964C>G (n.687-7964C>G) c.1367C>G (p.Ser456Cys) n.2604C>G n.995-2467C>G | gnomAD v4 |
9 | g.133436899C>T | CA375391699 | ADAMTS13 | c.1379C>T (p.Ser460Phe) c.1286C>T (p.Ser429Phe) c.635C>T (p.Ser212Phe) c.*183C>T (n.*183C>T) n.974-2467C>T c.*663C>T (n.*663C>T) n.993-2467C>T c.989C>T (p.Ser330Phe) c.395C>T (p.Ser132Phe) c.389C>T (p.Ser130Phe) c.44C>T (p.Ser15Phe) c.165C>T (p.Leu55=) c.687-7964C>T (n.687-7964C>T) c.1367C>T (p.Ser456Phe) n.2604C>T n.995-2467C>T | dbSNP gnomAD v4 |
9 | g.133436900C>A | CA2692371310 | ADAMTS13 | c.1380C>A (p.Ser460=) c.1287C>A (p.Ser429=) c.636C>A (p.Ser212=) c.*184C>A (n.*184C>A) n.974-2466C>A c.*664C>A (n.*664C>A) n.993-2466C>A c.990C>A (p.Ser330=) c.396C>A (p.Ser132=) c.390C>A (p.Ser130=) c.45C>A (p.Ser15=) c.166C>A (p.Leu56Ile) c.687-7963C>A (n.687-7963C>A) c.1368C>A (p.Ser456=) n.2605C>A n.995-2466C>A | gnomAD v4 |
9 | g.133436900C>G | CA2692371311 | ADAMTS13 | c.1380C>G (p.Ser460=) c.1287C>G (p.Ser429=) c.636C>G (p.Ser212=) c.*184C>G (n.*184C>G) n.974-2466C>G c.*664C>G (n.*664C>G) n.993-2466C>G c.990C>G (p.Ser330=) c.396C>G (p.Ser132=) c.390C>G (p.Ser130=) c.45C>G (p.Ser15=) c.166C>G (p.Leu56Val) c.687-7963C>G (n.687-7963C>G) c.1368C>G (p.Ser456=) n.2605C>G n.995-2466C>G | gnomAD v4 |
9 | g.133436901T>A | CA375391701 | ADAMTS13 | c.1381T>A (p.Ser461Thr) c.1288T>A (p.Ser430Thr) c.637T>A (p.Ser213Thr) c.*185T>A (n.*185T>A) n.974-2465T>A c.*665T>A (n.*665T>A) n.993-2465T>A c.991T>A (p.Ser331Thr) c.397T>A (p.Ser133Thr) c.391T>A (p.Ser131Thr) c.46T>A (p.Ser16Thr) c.167T>A (p.Leu56His) c.687-7962T>A (n.687-7962T>A) c.1369T>A (p.Ser457Thr) n.2606T>A n.995-2465T>A | |
9 | g.133436901T>C | CA375391705 | ADAMTS13 | c.1381T>C (p.Ser461Pro) c.1288T>C (p.Ser430Pro) c.637T>C (p.Ser213Pro) c.*185T>C (n.*185T>C) n.974-2465T>C c.*665T>C (n.*665T>C) n.993-2465T>C c.991T>C (p.Ser331Pro) c.397T>C (p.Ser133Pro) c.391T>C (p.Ser131Pro) c.46T>C (p.Ser16Pro) c.167T>C (p.Leu56Pro) c.687-7962T>C (n.687-7962T>C) c.1369T>C (p.Ser457Pro) n.2606T>C n.995-2465T>C | gnomAD v4 |
9 | g.133436901T>G | CA375391702 | ADAMTS13 | c.1381T>G (p.Ser461Ala) c.1288T>G (p.Ser430Ala) c.637T>G (p.Ser213Ala) c.*185T>G (n.*185T>G) n.974-2465T>G c.*665T>G (n.*665T>G) n.993-2465T>G c.991T>G (p.Ser331Ala) c.397T>G (p.Ser133Ala) c.391T>G (p.Ser131Ala) c.46T>G (p.Ser16Ala) c.167T>G (p.Leu56Arg) c.687-7962T>G (n.687-7962T>G) c.1369T>G (p.Ser457Ala) n.2606T>G n.995-2465T>G | gnomAD v4 |
9 | g.133436902C>A | CA375391707 | ADAMTS13 | c.1382C>A (p.Ser461Tyr) c.1289C>A (p.Ser430Tyr) c.638C>A (p.Ser213Tyr) c.*186C>A (n.*186C>A) n.974-2464C>A c.*666C>A (n.*666C>A) n.993-2464C>A c.992C>A (p.Ser331Tyr) c.398C>A (p.Ser133Tyr) c.392C>A (p.Ser131Tyr) c.47C>A (p.Ser16Tyr) c.168C>A (p.Leu56=) c.687-7961C>A (n.687-7961C>A) c.1370C>A (p.Ser457Tyr) n.2607C>A n.995-2464C>A | gnomAD v4 |
9 | g.133436902C= | CA1882673148 | ADAMTS13 | c.1382C= (p.Ser461=) c.1289C= (p.Ser430=) c.638C= (p.Ser213=) c.*186C= (n.*186C=) n.974-2464C= c.*666C= (n.*666C=) n.993-2464C= c.992C= (p.Ser331=) c.398C= (p.Ser133=) c.392C= (p.Ser131=) c.47C= (p.Ser16=) c.168C= (p.Leu56=) c.687-7961C= (n.687-7961C=) c.1370C= (p.Ser457=) n.2607C= n.995-2464C= | |
9 | g.133436902C>G | CA375391708 | ADAMTS13 | c.1382C>G (p.Ser461Cys) c.1289C>G (p.Ser430Cys) c.638C>G (p.Ser213Cys) c.*186C>G (n.*186C>G) n.974-2464C>G c.*666C>G (n.*666C>G) n.993-2464C>G c.992C>G (p.Ser331Cys) c.398C>G (p.Ser133Cys) c.392C>G (p.Ser131Cys) c.47C>G (p.Ser16Cys) c.168C>G (p.Leu56=) c.687-7961C>G (n.687-7961C>G) c.1370C>G (p.Ser457Cys) n.2607C>G n.995-2464C>G | |
9 | g.133436902C>T | CA375391710 | ADAMTS13 | c.1382C>T (p.Ser461Phe) c.1289C>T (p.Ser430Phe) c.638C>T (p.Ser213Phe) c.*186C>T (n.*186C>T) n.974-2464C>T c.*666C>T (n.*666C>T) n.993-2464C>T c.992C>T (p.Ser331Phe) c.398C>T (p.Ser133Phe) c.392C>T (p.Ser131Phe) c.47C>T (p.Ser16Phe) c.168C>T (p.Leu56=) c.687-7961C>T (n.687-7961C>T) c.1370C>T (p.Ser457Phe) n.2607C>T n.995-2464C>T | dbSNP gnomAD v4 |
9 | g.133436905del | CA2692371316 | ADAMTS13 | c.1385del (p.Pro462LeufsTer?) c.1292del (p.Pro431LeufsTer?) c.641del (p.Pro214LeufsTer?) c.*189del (n.*189del) n.974-2461del c.*669del (n.*669del) n.993-2461del c.995del (p.Pro332LeufsTer?) c.401del (p.Pro134LeufsTer?) c.395del (p.Pro132LeufsTer?) c.50del (p.Pro17LeufsTer?) c.171del (p.Trp58GlyfsTer?) c.687-7958del (n.687-7958del) c.1373del (p.Pro458LeufsTer?) n.2610del n.995-2461del | gnomAD v4 |
9 | g.133436903C= | CA1882673149 | ADAMTS13 | c.1383C= (p.Ser461=) c.1290C= (p.Ser430=) c.639C= (p.Ser213=) c.*187C= (n.*187C=) n.974-2463C= c.*667C= (n.*667C=) n.993-2463C= c.993C= (p.Ser331=) c.399C= (p.Ser133=) c.393C= (p.Ser131=) c.48C= (p.Ser16=) c.169C= (p.Pro57=) c.687-7960C= (n.687-7960C=) c.1371C= (p.Ser457=) n.2608C= n.995-2463C= | |
9 | g.133436903C>G | CA1882673150 | ADAMTS13 | c.1383C>G (p.Ser461=) c.1290C>G (p.Ser430=) c.639C>G (p.Ser213=) c.*187C>G (n.*187C>G) n.974-2463C>G c.*667C>G (n.*667C>G) n.993-2463C>G c.993C>G (p.Ser331=) c.399C>G (p.Ser133=) c.393C>G (p.Ser131=) c.48C>G (p.Ser16=) c.169C>G (p.Pro57Ala) c.687-7960C>G (n.687-7960C>G) c.1371C>G (p.Ser457=) n.2608C>G n.995-2463C>G | dbSNP gnomAD v4 |
9 | g.133436903C>T | CA2692371317 | ADAMTS13 | c.1383C>T (p.Ser461=) c.1290C>T (p.Ser430=) c.639C>T (p.Ser213=) c.*187C>T (n.*187C>T) n.974-2463C>T c.*667C>T (n.*667C>T) n.993-2463C>T c.993C>T (p.Ser331=) c.399C>T (p.Ser133=) c.393C>T (p.Ser131=) c.48C>T (p.Ser16=) c.169C>T (p.Pro57Ser) c.687-7960C>T (n.687-7960C>T) c.1371C>T (p.Ser457=) n.2608C>T n.995-2463C>T | gnomAD v4 |
9 | g.133436904C>A | CA375391713 | ADAMTS13 | c.1384C>A (p.Pro462Thr) c.1291C>A (p.Pro431Thr) c.640C>A (p.Pro214Thr) c.*188C>A (n.*188C>A) n.974-2462C>A c.*668C>A (n.*668C>A) n.993-2462C>A c.994C>A (p.Pro332Thr) c.400C>A (p.Pro134Thr) c.394C>A (p.Pro132Thr) c.49C>A (p.Pro17Thr) c.170C>A (p.Pro57His) c.687-7959C>A (n.687-7959C>A) c.1372C>A (p.Pro458Thr) n.2609C>A n.995-2462C>A | gnomAD v4 |
9 | g.133436904C>G | CA375391715 | ADAMTS13 | c.1384C>G (p.Pro462Ala) c.1291C>G (p.Pro431Ala) c.640C>G (p.Pro214Ala) c.*188C>G (n.*188C>G) n.974-2462C>G c.*668C>G (n.*668C>G) n.993-2462C>G c.994C>G (p.Pro332Ala) c.400C>G (p.Pro134Ala) c.394C>G (p.Pro132Ala) c.49C>G (p.Pro17Ala) c.170C>G (p.Pro57Arg) c.687-7959C>G (n.687-7959C>G) c.1372C>G (p.Pro458Ala) n.2609C>G n.995-2462C>G | gnomAD v4 |
9 | g.133436904C>T | CA375391716 | ADAMTS13 | c.1384C>T (p.Pro462Ser) c.1291C>T (p.Pro431Ser) c.640C>T (p.Pro214Ser) c.*188C>T (n.*188C>T) n.974-2462C>T c.*668C>T (n.*668C>T) n.993-2462C>T c.994C>T (p.Pro332Ser) c.400C>T (p.Pro134Ser) c.394C>T (p.Pro132Ser) c.49C>T (p.Pro17Ser) c.170C>T (p.Pro57Leu) c.687-7959C>T (n.687-7959C>T) c.1372C>T (p.Pro458Ser) n.2609C>T n.995-2462C>T | |
9 | g.133436905C>A | CA375391719 | ADAMTS13 | c.1385C>A (p.Pro462His) c.1292C>A (p.Pro431His) c.641C>A (p.Pro214His) c.*189C>A (n.*189C>A) n.974-2461C>A c.*669C>A (n.*669C>A) n.993-2461C>A c.995C>A (p.Pro332His) c.401C>A (p.Pro134His) c.395C>A (p.Pro132His) c.50C>A (p.Pro17His) c.171C>A (p.Pro57=) c.687-7958C>A (n.687-7958C>A) c.1373C>A (p.Pro458His) n.2610C>A n.995-2461C>A | gnomAD v4 |
9 | g.133436905C= | CA1882673151 | ADAMTS13 | c.1385C= (p.Pro462=) c.1292C= (p.Pro431=) c.641C= (p.Pro214=) c.*189C= (n.*189C=) n.974-2461C= c.*669C= (n.*669C=) n.993-2461C= c.995C= (p.Pro332=) c.401C= (p.Pro134=) c.395C= (p.Pro132=) c.50C= (p.Pro17=) c.171C= (p.Pro57=) c.687-7958C= (n.687-7958C=) c.1373C= (p.Pro458=) n.2610C= n.995-2461C= | |
9 | g.133436905C>G | CA375391721 | ADAMTS13 | c.1385C>G (p.Pro462Arg) c.1292C>G (p.Pro431Arg) c.641C>G (p.Pro214Arg) c.*189C>G (n.*189C>G) n.974-2461C>G c.*669C>G (n.*669C>G) n.993-2461C>G c.995C>G (p.Pro332Arg) c.401C>G (p.Pro134Arg) c.395C>G (p.Pro132Arg) c.50C>G (p.Pro17Arg) c.171C>G (p.Pro57=) c.687-7958C>G (n.687-7958C>G) c.1373C>G (p.Pro458Arg) n.2610C>G n.995-2461C>G | |
9 | g.133436905C>T | CA200929665 | ADAMTS13 | c.1385C>T (p.Pro462Leu) c.1292C>T (p.Pro431Leu) c.641C>T (p.Pro214Leu) c.*189C>T (n.*189C>T) n.974-2461C>T c.*669C>T (n.*669C>T) n.993-2461C>T c.995C>T (p.Pro332Leu) c.401C>T (p.Pro134Leu) c.395C>T (p.Pro132Leu) c.50C>T (p.Pro17Leu) c.171C>T (p.Pro57=) c.687-7958C>T (n.687-7958C>T) c.1373C>T (p.Pro458Leu) n.2610C>T n.995-2461C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436906T>C | CA200929670 | ADAMTS13 | c.1386T>C (p.Pro462=) c.1293T>C (p.Pro431=) c.642T>C (p.Pro214=) c.*190T>C (n.*190T>C) n.974-2460T>C c.*670T>C (n.*670T>C) n.993-2460T>C c.996T>C (p.Pro332=) c.402T>C (p.Pro134=) c.396T>C (p.Pro132=) c.51T>C (p.Pro17=) c.172T>C (p.Trp58Arg) c.687-7957T>C (n.687-7957T>C) c.1374T>C (p.Pro458=) n.2611T>C n.995-2460T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436906T= | CA1882673152 | ADAMTS13 | c.1386T= (p.Pro462=) c.1293T= (p.Pro431=) c.642T= (p.Pro214=) c.*190T= (n.*190T=) n.974-2460T= c.*670T= (n.*670T=) n.993-2460T= c.996T= (p.Pro332=) c.402T= (p.Pro134=) c.396T= (p.Pro132=) c.51T= (p.Pro17=) c.172T= (p.Trp58=) c.687-7957T= (n.687-7957T=) c.1374T= (p.Pro458=) n.2611T= n.995-2460T= | |
9 | g.133436907G>A | CA375391727 | ADAMTS13 | c.1387G>A (p.Gly463Ser) c.1294G>A (p.Gly432Ser) c.643G>A (p.Gly215Ser) c.*191G>A (n.*191G>A) n.974-2459G>A c.*671G>A (n.*671G>A) n.993-2459G>A c.997G>A (p.Gly333Ser) c.403G>A (p.Gly135Ser) c.397G>A (p.Gly133Ser) c.52G>A (p.Gly18Ser) c.173G>A (p.Trp58Ter) c.687-7956G>A (n.687-7956G>A) c.1375G>A (p.Gly459Ser) n.2612G>A n.995-2459G>A | dbSNP gnomAD v4 |
9 | g.133436907G>C | CA200929678 | ADAMTS13 | c.1387G>C (p.Gly463Arg) c.1294G>C (p.Gly432Arg) c.643G>C (p.Gly215Arg) c.*191G>C (n.*191G>C) n.974-2459G>C c.*671G>C (n.*671G>C) n.993-2459G>C c.997G>C (p.Gly333Arg) c.403G>C (p.Gly135Arg) c.397G>C (p.Gly133Arg) c.52G>C (p.Gly18Arg) c.173G>C (p.Trp58Ser) c.687-7956G>C (n.687-7956G>C) c.1375G>C (p.Gly459Arg) n.2612G>C n.995-2459G>C | dbSNP gnomAD v4 |
9 | g.133436907G= | CA1882673153 | ADAMTS13 | c.1387G= (p.Gly463=) c.1294G= (p.Gly432=) c.643G= (p.Gly215=) c.*191G= (n.*191G=) n.974-2459G= c.*671G= (n.*671G=) n.993-2459G= c.997G= (p.Gly333=) c.403G= (p.Gly135=) c.397G= (p.Gly133=) c.52G= (p.Gly18=) c.173G= (p.Trp58=) c.687-7956G= (n.687-7956G=) c.1375G= (p.Gly459=) n.2612G= n.995-2459G= | |
9 | g.133436907G>T | CA375391725 | ADAMTS13 | c.1387G>T (p.Gly463Cys) c.1294G>T (p.Gly432Cys) c.643G>T (p.Gly215Cys) c.*191G>T (n.*191G>T) n.974-2459G>T c.*671G>T (n.*671G>T) n.993-2459G>T c.997G>T (p.Gly333Cys) c.403G>T (p.Gly135Cys) c.397G>T (p.Gly133Cys) c.52G>T (p.Gly18Cys) c.173G>T (p.Trp58Leu) c.687-7956G>T (n.687-7956G>T) c.1375G>T (p.Gly459Cys) n.2612G>T n.995-2459G>T | gnomAD v4 |
9 | g.133436908G>A | CA200929682 | ADAMTS13 | c.1388G>A (p.Gly463Asp) c.1295G>A (p.Gly432Asp) c.644G>A (p.Gly215Asp) c.*192G>A (n.*192G>A) n.974-2458G>A c.*672G>A (n.*672G>A) n.993-2458G>A c.998G>A (p.Gly333Asp) c.404G>A (p.Gly135Asp) c.398G>A (p.Gly133Asp) c.53G>A (p.Gly18Asp) c.174G>A (p.Trp58Ter) c.687-7955G>A (n.687-7955G>A) c.1376G>A (p.Gly459Asp) n.2613G>A n.995-2458G>A | dbSNP |
9 | g.133436908G>C | CA375391732 | ADAMTS13 | c.1388G>C (p.Gly463Ala) c.1295G>C (p.Gly432Ala) c.644G>C (p.Gly215Ala) c.*192G>C (n.*192G>C) n.974-2458G>C c.*672G>C (n.*672G>C) n.993-2458G>C c.998G>C (p.Gly333Ala) c.404G>C (p.Gly135Ala) c.398G>C (p.Gly133Ala) c.53G>C (p.Gly18Ala) c.174G>C (p.Trp58Cys) c.687-7955G>C (n.687-7955G>C) c.1376G>C (p.Gly459Ala) n.2613G>C n.995-2458G>C | |
9 | g.133436908G= | CA1882673154 | ADAMTS13 | c.1388G= (p.Gly463=) c.1295G= (p.Gly432=) c.644G= (p.Gly215=) c.*192G= (n.*192G=) n.974-2458G= c.*672G= (n.*672G=) n.993-2458G= c.998G= (p.Gly333=) c.404G= (p.Gly135=) c.398G= (p.Gly133=) c.53G= (p.Gly18=) c.174G= (p.Trp58=) c.687-7955G= (n.687-7955G=) c.1376G= (p.Gly459=) n.2613G= n.995-2458G= | |
9 | g.133436908G>T | CA375391734 | ADAMTS13 | c.1388G>T (p.Gly463Val) c.1295G>T (p.Gly432Val) c.644G>T (p.Gly215Val) c.*192G>T (n.*192G>T) n.974-2458G>T c.*672G>T (n.*672G>T) n.993-2458G>T c.998G>T (p.Gly333Val) c.404G>T (p.Gly135Val) c.398G>T (p.Gly133Val) c.53G>T (p.Gly18Val) c.174G>T (p.Trp58Cys) c.687-7955G>T (n.687-7955G>T) c.1376G>T (p.Gly459Val) n.2613G>T n.995-2458G>T | |
9 | g.133436909C>A | CA2692371331 | ADAMTS13 | c.1389C>A (p.Gly463=) c.1296C>A (p.Gly432=) c.645C>A (p.Gly215=) c.*193C>A (n.*193C>A) n.974-2457C>A c.*673C>A (n.*673C>A) n.993-2457C>A c.999C>A (p.Gly333=) c.405C>A (p.Gly135=) c.399C>A (p.Gly133=) c.54C>A (p.Gly18=) c.175C>A (p.Arg59=) c.687-7954C>A (n.687-7954C>A) c.1377C>A (p.Gly459=) n.2614C>A n.995-2457C>A | gnomAD v4 |
9 | g.133436909C= | CA1882673155 | ADAMTS13 | c.1389C= (p.Gly463=) c.1296C= (p.Gly432=) c.645C= (p.Gly215=) c.*193C= (n.*193C=) n.974-2457C= c.*673C= (n.*673C=) n.993-2457C= c.999C= (p.Gly333=) c.405C= (p.Gly135=) c.399C= (p.Gly133=) c.54C= (p.Gly18=) c.175C= (p.Arg59=) c.687-7954C= (n.687-7954C=) c.1377C= (p.Gly459=) n.2614C= n.995-2457C= | |
9 | g.133436909C>T | CA200929688 | ADAMTS13 | c.1389C>T (p.Gly463=) c.1296C>T (p.Gly432=) c.645C>T (p.Gly215=) c.*193C>T (n.*193C>T) n.974-2457C>T c.*673C>T (n.*673C>T) n.993-2457C>T c.999C>T (p.Gly333=) c.405C>T (p.Gly135=) c.399C>T (p.Gly133=) c.54C>T (p.Gly18=) c.175C>T (p.Arg59Trp) c.687-7954C>T (n.687-7954C>T) c.1377C>T (p.Gly459=) n.2614C>T n.995-2457C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436910G>A | CA200929697 | ADAMTS13 | c.1390G>A (p.Gly464Ser) c.1297G>A (p.Gly433Ser) c.646G>A (p.Gly216Ser) c.*194G>A (n.*194G>A) n.974-2456G>A c.*674G>A (n.*674G>A) n.993-2456G>A c.1000G>A (p.Gly334Ser) c.406G>A (p.Gly136Ser) c.400G>A (p.Gly134Ser) c.55G>A (p.Gly19Ser) c.176G>A (p.Arg59Gln) c.687-7953G>A (n.687-7953G>A) c.1378G>A (p.Gly460Ser) n.2615G>A n.995-2456G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436910G>C | CA375391738 | ADAMTS13 | c.1390G>C (p.Gly464Arg) c.1297G>C (p.Gly433Arg) c.646G>C (p.Gly216Arg) c.*194G>C (n.*194G>C) n.974-2456G>C c.*674G>C (n.*674G>C) n.993-2456G>C c.1000G>C (p.Gly334Arg) c.406G>C (p.Gly136Arg) c.400G>C (p.Gly134Arg) c.55G>C (p.Gly19Arg) c.176G>C (p.Arg59Pro) c.687-7953G>C (n.687-7953G>C) c.1378G>C (p.Gly460Arg) n.2615G>C n.995-2456G>C | |
9 | g.133436910G= | CA1882673156 | ADAMTS13 | c.1390G= (p.Gly464=) c.1297G= (p.Gly433=) c.646G= (p.Gly216=) c.*194G= (n.*194G=) n.974-2456G= c.*674G= (n.*674G=) n.993-2456G= c.1000G= (p.Gly334=) c.406G= (p.Gly136=) c.400G= (p.Gly134=) c.55G= (p.Gly19=) c.176G= (p.Arg59=) c.687-7953G= (n.687-7953G=) c.1378G= (p.Gly460=) n.2615G= n.995-2456G= | |
9 | g.133436910G>T | CA375391741 | ADAMTS13 | c.1390G>T (p.Gly464Cys) c.1297G>T (p.Gly433Cys) c.646G>T (p.Gly216Cys) c.*194G>T (n.*194G>T) n.974-2456G>T c.*674G>T (n.*674G>T) n.993-2456G>T c.1000G>T (p.Gly334Cys) c.406G>T (p.Gly136Cys) c.400G>T (p.Gly134Cys) c.55G>T (p.Gly19Cys) c.176G>T (p.Arg59Leu) c.687-7953G>T (n.687-7953G>T) c.1378G>T (p.Gly460Cys) n.2615G>T n.995-2456G>T | |
9 | g.133436910_133436912delinsGGC | CA1882673157 | ADAMTS13 | c.1390_1392delinsGGC (p.Gly464=) c.1297_1299delinsGGC (p.Gly433=) c.646_648delinsGGC (p.Gly216=) c.*194_*196delinsGGC (n.*194_*196delinsGGC) n.974-2456_974-2454delinsGGC c.*674_*676delinsGGC (n.*674_*676delinsGGC) n.993-2456_993-2454delinsGGC c.1000_1002delinsGGC (p.Gly334=) c.406_408delinsGGC (p.Gly136=) c.400_402delinsGGC (p.Gly134=) c.55_57delinsGGC (p.Gly19=) c.176_178delinsGGC (p.Arg59=) c.687-7953_687-7951delinsGGC (n.687-7953_687-7951delinsGGC) c.1378_1380delinsGGC (p.Gly460=) n.2615_2617delinsGGC n.995-2456_995-2454delinsGGC | |
9 | g.133436911G>A | CA375391743 | ADAMTS13 | c.1391G>A (p.Gly464Asp) c.1298G>A (p.Gly433Asp) c.647G>A (p.Gly216Asp) c.*195G>A (n.*195G>A) n.974-2455G>A c.*675G>A (n.*675G>A) n.993-2455G>A c.1001G>A (p.Gly334Asp) c.407G>A (p.Gly136Asp) c.401G>A (p.Gly134Asp) c.56G>A (p.Gly19Asp) c.177G>A (p.Arg59=) c.687-7952G>A (n.687-7952G>A) c.1379G>A (p.Gly460Asp) n.2616G>A n.995-2455G>A | gnomAD v4 |
9 | g.133436911G>C | CA375391748 | ADAMTS13 | c.1391G>C (p.Gly464Ala) c.1298G>C (p.Gly433Ala) c.647G>C (p.Gly216Ala) c.*195G>C (n.*195G>C) n.974-2455G>C c.*675G>C (n.*675G>C) n.993-2455G>C c.1001G>C (p.Gly334Ala) c.407G>C (p.Gly136Ala) c.401G>C (p.Gly134Ala) c.56G>C (p.Gly19Ala) c.177G>C (p.Arg59=) c.687-7952G>C (n.687-7952G>C) c.1379G>C (p.Gly460Ala) n.2616G>C n.995-2455G>C | |
9 | g.133436911G>T | CA375391746 | ADAMTS13 | c.1391G>T (p.Gly464Val) c.1298G>T (p.Gly433Val) c.647G>T (p.Gly216Val) c.*195G>T (n.*195G>T) n.974-2455G>T c.*675G>T (n.*675G>T) n.993-2455G>T c.1001G>T (p.Gly334Val) c.407G>T (p.Gly136Val) c.401G>T (p.Gly134Val) c.56G>T (p.Gly19Val) c.177G>T (p.Arg59=) c.687-7952G>T (n.687-7952G>T) c.1379G>T (p.Gly460Val) n.2616G>T n.995-2455G>T | gnomAD v4 |
9 | g.133436913_133436914del | CA860755575 | ADAMTS13 | c.1393_1394del (p.Ala465LeufsTer?) c.1300_1301del (p.Ala434LeufsTer?) c.649_650del (p.Ala217LeufsTer?) c.*197_*198del (n.*197_*198del) n.974-2453_974-2452del c.*677_*678del (n.*677_*678del) n.993-2453_993-2452del c.1003_1004del (p.Ala335LeufsTer?) c.409_410del (p.Ala137LeufsTer?) c.403_404del (p.Ala135LeufsTer?) c.58_59del (p.Ala20LeufsTer?) c.179_180del (p.Arg60ProfsTer?) c.687-7950_687-7949del (n.687-7950_687-7949del) c.1381_1382del (p.Ala461LeufsTer?) n.2618_2619del n.995-2453_995-2452del | ClinVar dbSNP gnomAD v4 |
9 | g.133436912C>A | CA2692371359 | ADAMTS13 | c.1392C>A (p.Gly464=) c.1299C>A (p.Gly433=) c.648C>A (p.Gly216=) c.*196C>A (n.*196C>A) n.974-2454C>A c.*676C>A (n.*676C>A) n.993-2454C>A c.1002C>A (p.Gly334=) c.408C>A (p.Gly136=) c.402C>A (p.Gly134=) c.57C>A (p.Gly19=) c.178C>A (p.Arg60Ser) c.687-7951C>A (n.687-7951C>A) c.1380C>A (p.Gly460=) n.2617C>A n.995-2454C>A | gnomAD v4 |
9 | g.133436912C= | CA1882673158 | ADAMTS13 | c.1392C= (p.Gly464=) c.1299C= (p.Gly433=) c.648C= (p.Gly216=) c.*196C= (n.*196C=) n.974-2454C= c.*676C= (n.*676C=) n.993-2454C= c.1002C= (p.Gly334=) c.408C= (p.Gly136=) c.402C= (p.Gly134=) c.57C= (p.Gly19=) c.178C= (p.Arg60=) c.687-7951C= (n.687-7951C=) c.1380C= (p.Gly460=) n.2617C= n.995-2454C= | |
9 | g.133436912C>T | CA200929700 | ADAMTS13 | c.1392C>T (p.Gly464=) c.1299C>T (p.Gly433=) c.648C>T (p.Gly216=) c.*196C>T (n.*196C>T) n.974-2454C>T c.*676C>T (n.*676C>T) n.993-2454C>T c.1002C>T (p.Gly334=) c.408C>T (p.Gly136=) c.402C>T (p.Gly134=) c.57C>T (p.Gly19=) c.178C>T (p.Arg60Cys) c.687-7951C>T (n.687-7951C>T) c.1380C>T (p.Gly460=) n.2617C>T n.995-2454C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436913G>A | CA375391751 | ADAMTS13 | c.1393G>A (p.Ala465Thr) c.1300G>A (p.Ala434Thr) c.649G>A (p.Ala217Thr) c.*197G>A (n.*197G>A) n.974-2453G>A c.*677G>A (n.*677G>A) n.993-2453G>A c.1003G>A (p.Ala335Thr) c.409G>A (p.Ala137Thr) c.403G>A (p.Ala135Thr) c.58G>A (p.Ala20Thr) c.179G>A (p.Arg60His) c.687-7950G>A (n.687-7950G>A) c.1381G>A (p.Ala461Thr) n.2618G>A n.995-2453G>A | dbSNP gnomAD v4 |
9 | g.133436913G>C | CA375391752 | ADAMTS13 | c.1393G>C (p.Ala465Pro) c.1300G>C (p.Ala434Pro) c.649G>C (p.Ala217Pro) c.*197G>C (n.*197G>C) n.974-2453G>C c.*677G>C (n.*677G>C) n.993-2453G>C c.1003G>C (p.Ala335Pro) c.409G>C (p.Ala137Pro) c.403G>C (p.Ala135Pro) c.58G>C (p.Ala20Pro) c.179G>C (p.Arg60Pro) c.687-7950G>C (n.687-7950G>C) c.1381G>C (p.Ala461Pro) n.2618G>C n.995-2453G>C | |
9 | g.133436913G= | CA1882673159 | ADAMTS13 | c.1393G= (p.Ala465=) c.1300G= (p.Ala434=) c.649G= (p.Ala217=) c.*197G= (n.*197G=) n.974-2453G= c.*677G= (n.*677G=) n.993-2453G= c.1003G= (p.Ala335=) c.409G= (p.Ala137=) c.403G= (p.Ala135=) c.58G= (p.Ala20=) c.179G= (p.Arg60=) c.687-7950G= (n.687-7950G=) c.1381G= (p.Ala461=) n.2618G= n.995-2453G= | |
9 | g.133436913G>T | CA375391754 | ADAMTS13 | c.1393G>T (p.Ala465Ser) c.1300G>T (p.Ala434Ser) c.649G>T (p.Ala217Ser) c.*197G>T (n.*197G>T) n.974-2453G>T c.*677G>T (n.*677G>T) n.993-2453G>T c.1003G>T (p.Ala335Ser) c.409G>T (p.Ala137Ser) c.403G>T (p.Ala135Ser) c.58G>T (p.Ala20Ser) c.179G>T (p.Arg60Leu) c.687-7950G>T (n.687-7950G>T) c.1381G>T (p.Ala461Ser) n.2618G>T n.995-2453G>T | gnomAD v4 |
9 | g.133436914C>A | CA375391756 | ADAMTS13 | c.1394C>A (p.Ala465Asp) c.1301C>A (p.Ala434Asp) c.650C>A (p.Ala217Asp) c.*198C>A (n.*198C>A) n.974-2452C>A c.*678C>A (n.*678C>A) n.993-2452C>A c.1004C>A (p.Ala335Asp) c.410C>A (p.Ala137Asp) c.404C>A (p.Ala135Asp) c.59C>A (p.Ala20Asp) c.180C>A (p.Arg60=) c.687-7949C>A (n.687-7949C>A) c.1382C>A (p.Ala461Asp) n.2619C>A n.995-2452C>A | gnomAD v4 |
9 | g.133436914C>G | CA375391760 | ADAMTS13 | c.1394C>G (p.Ala465Gly) c.1301C>G (p.Ala434Gly) c.650C>G (p.Ala217Gly) c.*198C>G (n.*198C>G) n.974-2452C>G c.*678C>G (n.*678C>G) n.993-2452C>G c.1004C>G (p.Ala335Gly) c.410C>G (p.Ala137Gly) c.404C>G (p.Ala135Gly) c.59C>G (p.Ala20Gly) c.180C>G (p.Arg60=) c.687-7949C>G (n.687-7949C>G) c.1382C>G (p.Ala461Gly) n.2619C>G n.995-2452C>G | |
9 | g.133436914C>T | CA375391758 | ADAMTS13 | c.1394C>T (p.Ala465Val) c.1301C>T (p.Ala434Val) c.650C>T (p.Ala217Val) c.*198C>T (n.*198C>T) n.974-2452C>T c.*678C>T (n.*678C>T) n.993-2452C>T c.1004C>T (p.Ala335Val) c.410C>T (p.Ala137Val) c.404C>T (p.Ala135Val) c.59C>T (p.Ala20Val) c.180C>T (p.Arg60=) c.687-7949C>T (n.687-7949C>T) c.1382C>T (p.Ala461Val) n.2619C>T n.995-2452C>T | gnomAD v4 |
9 | g.133436915C>A | CA2692371367 | ADAMTS13 | c.1395C>A (p.Ala465=) c.1302C>A (p.Ala434=) c.651C>A (p.Ala217=) c.*199C>A (n.*199C>A) n.974-2451C>A c.*679C>A (n.*679C>A) n.993-2451C>A c.1005C>A (p.Ala335=) c.411C>A (p.Ala137=) c.405C>A (p.Ala135=) c.60C>A (p.Ala20=) c.181C>A (p.Leu61Ile) c.687-7948C>A (n.687-7948C>A) c.1383C>A (p.Ala461=) n.2620C>A n.995-2451C>A | gnomAD v4 |
9 | g.133436915C= | CA1882673160 | ADAMTS13 | c.1395C= (p.Ala465=) c.1302C= (p.Ala434=) c.651C= (p.Ala217=) c.*199C= (n.*199C=) n.974-2451C= c.*679C= (n.*679C=) n.993-2451C= c.1005C= (p.Ala335=) c.411C= (p.Ala137=) c.405C= (p.Ala135=) c.60C= (p.Ala20=) c.181C= (p.Leu61=) c.687-7948C= (n.687-7948C=) c.1383C= (p.Ala461=) n.2620C= n.995-2451C= | |
9 | g.133436915C>G | CA1882673161 | ADAMTS13 | c.1395C>G (p.Ala465=) c.1302C>G (p.Ala434=) c.651C>G (p.Ala217=) c.*199C>G (n.*199C>G) n.974-2451C>G c.*679C>G (n.*679C>G) n.993-2451C>G c.1005C>G (p.Ala335=) c.411C>G (p.Ala137=) c.405C>G (p.Ala135=) c.60C>G (p.Ala20=) c.181C>G (p.Leu61Val) c.687-7948C>G (n.687-7948C>G) c.1383C>G (p.Ala461=) n.2620C>G n.995-2451C>G | dbSNP |
9 | g.133436915C>T | CA860755587 | ADAMTS13 | c.1395C>T (p.Ala465=) c.1302C>T (p.Ala434=) c.651C>T (p.Ala217=) c.*199C>T (n.*199C>T) n.974-2451C>T c.*679C>T (n.*679C>T) n.993-2451C>T c.1005C>T (p.Ala335=) c.411C>T (p.Ala137=) c.405C>T (p.Ala135=) c.60C>T (p.Ala20=) c.181C>T (p.Leu61Phe) c.687-7948C>T (n.687-7948C>T) c.1383C>T (p.Ala461=) n.2620C>T n.995-2451C>T | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436916T>A | CA375391762 | ADAMTS13 | c.1396T>A (p.Ser466Thr) c.1303T>A (p.Ser435Thr) c.652T>A (p.Ser218Thr) c.*200T>A (n.*200T>A) n.974-2450T>A c.*680T>A (n.*680T>A) n.993-2450T>A c.1006T>A (p.Ser336Thr) c.412T>A (p.Ser138Thr) c.406T>A (p.Ser136Thr) c.61T>A (p.Ser21Thr) c.182T>A (p.Leu61His) c.687-7947T>A (n.687-7947T>A) c.1384T>A (p.Ser462Thr) n.2621T>A n.995-2450T>A | |
9 | g.133436916T>C | CA375391764 | ADAMTS13 | c.1396T>C (p.Ser466Pro) c.1303T>C (p.Ser435Pro) c.652T>C (p.Ser218Pro) c.*200T>C (n.*200T>C) n.974-2450T>C c.*680T>C (n.*680T>C) n.993-2450T>C c.1006T>C (p.Ser336Pro) c.412T>C (p.Ser138Pro) c.406T>C (p.Ser136Pro) c.61T>C (p.Ser21Pro) c.182T>C (p.Leu61Pro) c.687-7947T>C (n.687-7947T>C) c.1384T>C (p.Ser462Pro) n.2621T>C n.995-2450T>C | gnomAD v4 |
9 | g.133436916T>G | CA375391766 | ADAMTS13 | c.1396T>G (p.Ser466Ala) c.1303T>G (p.Ser435Ala) c.652T>G (p.Ser218Ala) c.*200T>G (n.*200T>G) n.974-2450T>G c.*680T>G (n.*680T>G) n.993-2450T>G c.1006T>G (p.Ser336Ala) c.412T>G (p.Ser138Ala) c.406T>G (p.Ser136Ala) c.61T>G (p.Ser21Ala) c.182T>G (p.Leu61Arg) c.687-7947T>G (n.687-7947T>G) c.1384T>G (p.Ser462Ala) n.2621T>G n.995-2450T>G | dbSNP gnomAD v4 |
9 | g.133436916T= | CA1882673162 | ADAMTS13 | c.1396T= (p.Ser466=) c.1303T= (p.Ser435=) c.652T= (p.Ser218=) c.*200T= (n.*200T=) n.974-2450T= c.*680T= (n.*680T=) n.993-2450T= c.1006T= (p.Ser336=) c.412T= (p.Ser138=) c.406T= (p.Ser136=) c.61T= (p.Ser21=) c.182T= (p.Leu61=) c.687-7947T= (n.687-7947T=) c.1384T= (p.Ser462=) n.2621T= n.995-2450T= | |
9 | g.133436917C>A | CA375391768 | ADAMTS13 | c.1397C>A (p.Ser466Tyr) c.1304C>A (p.Ser435Tyr) c.653C>A (p.Ser218Tyr) c.*201C>A (n.*201C>A) n.974-2449C>A c.*681C>A (n.*681C>A) n.993-2449C>A c.1007C>A (p.Ser336Tyr) c.413C>A (p.Ser138Tyr) c.407C>A (p.Ser136Tyr) c.62C>A (p.Ser21Tyr) c.183C>A (p.Leu61=) c.687-7946C>A (n.687-7946C>A) c.1385C>A (p.Ser462Tyr) n.2622C>A n.995-2449C>A | |
9 | g.133436917C>G | CA375391770 | ADAMTS13 | c.1397C>G (p.Ser466Cys) c.1304C>G (p.Ser435Cys) c.653C>G (p.Ser218Cys) c.*201C>G (n.*201C>G) n.974-2449C>G c.*681C>G (n.*681C>G) n.993-2449C>G c.1007C>G (p.Ser336Cys) c.413C>G (p.Ser138Cys) c.407C>G (p.Ser136Cys) c.62C>G (p.Ser21Cys) c.183C>G (p.Leu61=) c.687-7946C>G (n.687-7946C>G) c.1385C>G (p.Ser462Cys) n.2622C>G n.995-2449C>G | |
9 | g.133436917C>T | CA375391772 | ADAMTS13 | c.1397C>T (p.Ser466Phe) c.1304C>T (p.Ser435Phe) c.653C>T (p.Ser218Phe) c.*201C>T (n.*201C>T) n.974-2449C>T c.*681C>T (n.*681C>T) n.993-2449C>T c.1007C>T (p.Ser336Phe) c.413C>T (p.Ser138Phe) c.407C>T (p.Ser136Phe) c.62C>T (p.Ser21Phe) c.183C>T (p.Leu61=) c.687-7946C>T (n.687-7946C>T) c.1385C>T (p.Ser462Phe) n.2622C>T n.995-2449C>T | |
9 | g.133436918del | CA2692371373 | ADAMTS13 | c.1398del (p.Phe467SerfsTer?) c.1305del (p.Phe436SerfsTer?) c.654del (p.Phe219SerfsTer?) c.*202del (n.*202del) n.974-2448del c.*682del (n.*682del) n.993-2448del c.1008del (p.Phe337SerfsTer?) c.414del (p.Phe139SerfsTer?) c.408del (p.Phe137SerfsTer?) c.63del (p.Phe22SerfsTer?) c.184del (p.Leu62PhefsTer?) c.687-7945del (n.687-7945del) c.1386del (p.Phe463SerfsTer?) n.2623del n.995-2448del | gnomAD v4 |
9 | g.133436917_133436920delinsCCTT | CA1882673163 | ADAMTS13 | c.1397_1400delinsCCTT (p.Ser466=) c.1304_1307delinsCCTT (p.Ser435=) c.653_656delinsCCTT (p.Ser218=) c.*201_*204delinsCCTT (n.*201_*204delinsCCTT) n.974-2449_974-2446delinsCCTT c.*681_*684delinsCCTT (n.*681_*684delinsCCTT) n.993-2449_993-2446delinsCCTT c.1007_1010delinsCCTT (p.Ser336=) c.413_416delinsCCTT (p.Ser138=) c.407_410delinsCCTT (p.Ser136=) c.62_65delinsCCTT (p.Ser21=) c.183_186delinsCCTT (p.Leu61=) c.687-7946_687-7943delinsCCTT (n.687-7946_687-7943delinsCCTT) c.1385_1388delinsCCTT (p.Ser462=) n.2622_2625delinsCCTT n.995-2449_995-2446delinsCCTT | |
9 | g.133436918C= | CA1882673164 | ADAMTS13 | c.1398C= (p.Ser466=) c.1305C= (p.Ser435=) c.654C= (p.Ser218=) c.*202C= (n.*202C=) n.974-2448C= c.*682C= (n.*682C=) n.993-2448C= c.1008C= (p.Ser336=) c.414C= (p.Ser138=) c.408C= (p.Ser136=) c.63C= (p.Ser21=) c.184C= (p.Leu62=) c.687-7945C= (n.687-7945C=) c.1386C= (p.Ser462=) n.2623C= n.995-2448C= | |
9 | g.133436918C>T | CA1882673165 | ADAMTS13 | c.1398C>T (p.Ser466=) c.1305C>T (p.Ser435=) c.654C>T (p.Ser218=) c.*202C>T (n.*202C>T) n.974-2448C>T c.*682C>T (n.*682C>T) n.993-2448C>T c.1008C>T (p.Ser336=) c.414C>T (p.Ser138=) c.408C>T (p.Ser136=) c.63C>T (p.Ser21=) c.184C>T (p.Leu62Phe) c.687-7945C>T (n.687-7945C>T) c.1386C>T (p.Ser462=) n.2623C>T n.995-2448C>T | dbSNP |
9 | g.133436920_133436922del | CA1129743551 | ADAMTS13 | c.1400_1402del (p.Phe467del) c.1307_1309del (p.Phe436del) c.656_658del (p.Phe219del) c.*204_*206del (n.*204_*206del) n.974-2446_974-2444del c.*684_*686del (n.*684_*686del) n.993-2446_993-2444del c.1010_1012del (p.Phe337del) c.416_418del (p.Phe139del) c.410_412del (p.Phe137del) c.65_67del (p.Phe22del) c.186_188del (p.Leu63del) c.687-7943_687-7941del (n.687-7943_687-7941del) c.1388_1390del (p.Phe463del) n.2625_2627del n.995-2446_995-2444del | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436919T>A | CA375391775 | ADAMTS13 | c.1399T>A (p.Phe467Ile) c.1306T>A (p.Phe436Ile) c.655T>A (p.Phe219Ile) c.*203T>A (n.*203T>A) n.974-2447T>A c.*683T>A (n.*683T>A) n.993-2447T>A c.1009T>A (p.Phe337Ile) c.415T>A (p.Phe139Ile) c.409T>A (p.Phe137Ile) c.64T>A (p.Phe22Ile) c.185T>A (p.Leu62His) c.687-7944T>A (n.687-7944T>A) c.1387T>A (p.Phe463Ile) n.2624T>A n.995-2447T>A | |
9 | g.133436919T>C | CA375391777 | ADAMTS13 | c.1399T>C (p.Phe467Leu) c.1306T>C (p.Phe436Leu) c.655T>C (p.Phe219Leu) c.*203T>C (n.*203T>C) n.974-2447T>C c.*683T>C (n.*683T>C) n.993-2447T>C c.1009T>C (p.Phe337Leu) c.415T>C (p.Phe139Leu) c.409T>C (p.Phe137Leu) c.64T>C (p.Phe22Leu) c.185T>C (p.Leu62Pro) c.687-7944T>C (n.687-7944T>C) c.1387T>C (p.Phe463Leu) n.2624T>C n.995-2447T>C | |
9 | g.133436919T>G | CA375391779 | ADAMTS13 | c.1399T>G (p.Phe467Val) c.1306T>G (p.Phe436Val) c.655T>G (p.Phe219Val) c.*203T>G (n.*203T>G) n.974-2447T>G c.*683T>G (n.*683T>G) n.993-2447T>G c.1009T>G (p.Phe337Val) c.415T>G (p.Phe139Val) c.409T>G (p.Phe137Val) c.64T>G (p.Phe22Val) c.185T>G (p.Leu62Arg) c.687-7944T>G (n.687-7944T>G) c.1387T>G (p.Phe463Val) n.2624T>G n.995-2447T>G | |
9 | g.133436920T>A | CA375391781 | ADAMTS13 | c.1400T>A (p.Phe467Tyr) c.1307T>A (p.Phe436Tyr) c.656T>A (p.Phe219Tyr) c.*204T>A (n.*204T>A) n.974-2446T>A c.*684T>A (n.*684T>A) n.993-2446T>A c.1010T>A (p.Phe337Tyr) c.416T>A (p.Phe139Tyr) c.410T>A (p.Phe137Tyr) c.65T>A (p.Phe22Tyr) c.186T>A (p.Leu62=) c.687-7943T>A (n.687-7943T>A) c.1388T>A (p.Phe463Tyr) n.2625T>A n.995-2446T>A | |
9 | g.133436920T>C | CA375391782 | ADAMTS13 | c.1400T>C (p.Phe467Ser) c.1307T>C (p.Phe436Ser) c.656T>C (p.Phe219Ser) c.*204T>C (n.*204T>C) n.974-2446T>C c.*684T>C (n.*684T>C) n.993-2446T>C c.1010T>C (p.Phe337Ser) c.416T>C (p.Phe139Ser) c.410T>C (p.Phe137Ser) c.65T>C (p.Phe22Ser) c.186T>C (p.Leu62=) c.687-7943T>C (n.687-7943T>C) c.1388T>C (p.Phe463Ser) n.2625T>C n.995-2446T>C | |
9 | g.133436920T>G | CA375391783 | ADAMTS13 | c.1400T>G (p.Phe467Cys) c.1307T>G (p.Phe436Cys) c.656T>G (p.Phe219Cys) c.*204T>G (n.*204T>G) n.974-2446T>G c.*684T>G (n.*684T>G) n.993-2446T>G c.1010T>G (p.Phe337Cys) c.416T>G (p.Phe139Cys) c.410T>G (p.Phe137Cys) c.65T>G (p.Phe22Cys) c.186T>G (p.Leu62=) c.687-7943T>G (n.687-7943T>G) c.1388T>G (p.Phe463Cys) n.2625T>G n.995-2446T>G | |
9 | g.133436921C>A | CA375391786 | ADAMTS13 | c.1401C>A (p.Phe467Leu) c.1308C>A (p.Phe436Leu) c.657C>A (p.Phe219Leu) c.*205C>A (n.*205C>A) n.974-2445C>A c.*685C>A (n.*685C>A) n.993-2445C>A c.1011C>A (p.Phe337Leu) c.417C>A (p.Phe139Leu) c.411C>A (p.Phe137Leu) c.66C>A (p.Phe22Leu) c.187C>A (p.Leu63Ile) c.687-7942C>A (n.687-7942C>A) c.1389C>A (p.Phe463Leu) n.2626C>A n.995-2445C>A | dbSNP gnomAD v4 |
9 | g.133436921C= | CA1882673166 | ADAMTS13 | c.1401C= (p.Phe467=) c.1308C= (p.Phe436=) c.657C= (p.Phe219=) c.*205C= (n.*205C=) n.974-2445C= c.*685C= (n.*685C=) n.993-2445C= c.1011C= (p.Phe337=) c.417C= (p.Phe139=) c.411C= (p.Phe137=) c.66C= (p.Phe22=) c.187C= (p.Leu63=) c.687-7942C= (n.687-7942C=) c.1389C= (p.Phe463=) n.2626C= n.995-2445C= | |
9 | g.133436921C>G | CA375391787 | ADAMTS13 | c.1401C>G (p.Phe467Leu) c.1308C>G (p.Phe436Leu) c.657C>G (p.Phe219Leu) c.*205C>G (n.*205C>G) n.974-2445C>G c.*685C>G (n.*685C>G) n.993-2445C>G c.1011C>G (p.Phe337Leu) c.417C>G (p.Phe139Leu) c.411C>G (p.Phe137Leu) c.66C>G (p.Phe22Leu) c.187C>G (p.Leu63Val) c.687-7942C>G (n.687-7942C>G) c.1389C>G (p.Phe463Leu) n.2626C>G n.995-2445C>G | dbSNP gnomAD v4 |
9 | g.133436922T>A | CA375391790 | ADAMTS13 | c.1402T>A (p.Tyr468Asn) c.1309T>A (p.Tyr437Asn) c.658T>A (p.Tyr220Asn) c.*206T>A (n.*206T>A) n.974-2444T>A c.*686T>A (n.*686T>A) n.993-2444T>A c.1012T>A (p.Tyr338Asn) c.418T>A (p.Tyr140Asn) c.412T>A (p.Tyr138Asn) c.67T>A (p.Tyr23Asn) c.188T>A (p.Leu63Gln) c.687-7941T>A (n.687-7941T>A) c.1390T>A (p.Tyr464Asn) n.2627T>A n.995-2444T>A | |
9 | g.133436922T>C | CA375391793 | ADAMTS13 | c.1402T>C (p.Tyr468His) c.1309T>C (p.Tyr437His) c.658T>C (p.Tyr220His) c.*206T>C (n.*206T>C) n.974-2444T>C c.*686T>C (n.*686T>C) n.993-2444T>C c.1012T>C (p.Tyr338His) c.418T>C (p.Tyr140His) c.412T>C (p.Tyr138His) c.67T>C (p.Tyr23His) c.188T>C (p.Leu63Pro) c.687-7941T>C (n.687-7941T>C) c.1390T>C (p.Tyr464His) n.2627T>C n.995-2444T>C | gnomAD v4 |
9 | g.133436922T>G | CA375391791 | ADAMTS13 | c.1402T>G (p.Tyr468Asp) c.1309T>G (p.Tyr437Asp) c.658T>G (p.Tyr220Asp) c.*206T>G (n.*206T>G) n.974-2444T>G c.*686T>G (n.*686T>G) n.993-2444T>G c.1012T>G (p.Tyr338Asp) c.418T>G (p.Tyr140Asp) c.412T>G (p.Tyr138Asp) c.67T>G (p.Tyr23Asp) c.188T>G (p.Leu63Arg) c.687-7941T>G (n.687-7941T>G) c.1390T>G (p.Tyr464Asp) n.2627T>G n.995-2444T>G | |
9 | g.133436923A= | CA1882673167 | ADAMTS13 | c.1403A= (p.Tyr468=) c.1310A= (p.Tyr437=) c.659A= (p.Tyr220=) c.*207A= (n.*207A=) n.974-2443A= c.*687A= (n.*687A=) n.993-2443A= c.1013A= (p.Tyr338=) c.419A= (p.Tyr140=) c.413A= (p.Tyr138=) c.68A= (p.Tyr23=) c.189A= (p.Leu63=) c.687-7940A= (n.687-7940A=) c.1391A= (p.Tyr464=) n.2628A= n.995-2443A= | |
9 | g.133436923A>C | CA375391795 | ADAMTS13 | c.1403A>C (p.Tyr468Ser) c.1310A>C (p.Tyr437Ser) c.659A>C (p.Tyr220Ser) c.*207A>C (n.*207A>C) n.974-2443A>C c.*687A>C (n.*687A>C) n.993-2443A>C c.1013A>C (p.Tyr338Ser) c.419A>C (p.Tyr140Ser) c.413A>C (p.Tyr138Ser) c.68A>C (p.Tyr23Ser) c.189A>C (p.Leu63=) c.687-7940A>C (n.687-7940A>C) c.1391A>C (p.Tyr464Ser) n.2628A>C n.995-2443A>C | |
9 | g.133436923A>G | CA200929704 | ADAMTS13 | c.1403A>G (p.Tyr468Cys) c.1310A>G (p.Tyr437Cys) c.659A>G (p.Tyr220Cys) c.*207A>G (n.*207A>G) n.974-2443A>G c.*687A>G (n.*687A>G) n.993-2443A>G c.1013A>G (p.Tyr338Cys) c.419A>G (p.Tyr140Cys) c.413A>G (p.Tyr138Cys) c.68A>G (p.Tyr23Cys) c.189A>G (p.Leu63=) c.687-7940A>G (n.687-7940A>G) c.1391A>G (p.Tyr464Cys) n.2628A>G n.995-2443A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436923A>T | CA375391796 | ADAMTS13 | c.1403A>T (p.Tyr468Phe) c.1310A>T (p.Tyr437Phe) c.659A>T (p.Tyr220Phe) c.*207A>T (n.*207A>T) n.974-2443A>T c.*687A>T (n.*687A>T) n.993-2443A>T c.1013A>T (p.Tyr338Phe) c.419A>T (p.Tyr140Phe) c.413A>T (p.Tyr138Phe) c.68A>T (p.Tyr23Phe) c.189A>T (p.Leu63=) c.687-7940A>T (n.687-7940A>T) c.1391A>T (p.Tyr464Phe) n.2628A>T n.995-2443A>T | |
9 | g.133436924C>A | CA375391798 | ADAMTS13 | c.1404C>A (p.Tyr468Ter) c.1311C>A (p.Tyr437Ter) c.660C>A (p.Tyr220Ter) c.*208C>A (n.*208C>A) n.974-2442C>A c.*688C>A (n.*688C>A) n.993-2442C>A c.1014C>A (p.Tyr338Ter) c.420C>A (p.Tyr140Ter) c.414C>A (p.Tyr138Ter) c.69C>A (p.Tyr23Ter) c.190C>A (p.Pro64Thr) c.687-7939C>A (n.687-7939C>A) c.1392C>A (p.Tyr464Ter) n.2629C>A n.995-2442C>A | gnomAD v4 |
9 | g.133436924C>G | CA375391799 | ADAMTS13 | c.1404C>G (p.Tyr468Ter) c.1311C>G (p.Tyr437Ter) c.660C>G (p.Tyr220Ter) c.*208C>G (n.*208C>G) n.974-2442C>G c.*688C>G (n.*688C>G) n.993-2442C>G c.1014C>G (p.Tyr338Ter) c.420C>G (p.Tyr140Ter) c.414C>G (p.Tyr138Ter) c.69C>G (p.Tyr23Ter) c.190C>G (p.Pro64Ala) c.687-7939C>G (n.687-7939C>G) c.1392C>G (p.Tyr464Ter) n.2629C>G n.995-2442C>G | |
9 | g.133436925C>A | CA375391801 | ADAMTS13 | c.1405C>A (p.His469Asn) c.1312C>A (p.His438Asn) c.661C>A (p.His221Asn) c.*209C>A (n.*209C>A) n.974-2441C>A c.*689C>A (n.*689C>A) n.993-2441C>A c.1015C>A (p.His339Asn) c.421C>A (p.His141Asn) c.415C>A (p.His139Asn) c.70C>A (p.His24Asn) c.191C>A (p.Pro64Gln) c.687-7938C>A (n.687-7938C>A) c.1393C>A (p.His465Asn) n.2630C>A n.995-2441C>A | |
9 | g.133436925C>G | CA375391803 | ADAMTS13 | c.1405C>G (p.His469Asp) c.1312C>G (p.His438Asp) c.661C>G (p.His221Asp) c.*209C>G (n.*209C>G) n.974-2441C>G c.*689C>G (n.*689C>G) n.993-2441C>G c.1015C>G (p.His339Asp) c.421C>G (p.His141Asp) c.415C>G (p.His139Asp) c.70C>G (p.His24Asp) c.191C>G (p.Pro64Arg) c.687-7938C>G (n.687-7938C>G) c.1393C>G (p.His465Asp) n.2630C>G n.995-2441C>G | |
9 | g.133436925C>T | CA375391804 | ADAMTS13 | c.1405C>T (p.His469Tyr) c.1312C>T (p.His438Tyr) c.661C>T (p.His221Tyr) c.*209C>T (n.*209C>T) n.974-2441C>T c.*689C>T (n.*689C>T) n.993-2441C>T c.1015C>T (p.His339Tyr) c.421C>T (p.His141Tyr) c.415C>T (p.His139Tyr) c.70C>T (p.His24Tyr) c.191C>T (p.Pro64Leu) c.687-7938C>T (n.687-7938C>T) c.1393C>T (p.His465Tyr) n.2630C>T n.995-2441C>T | |
9 | g.133436926A>C | CA375391807 | ADAMTS13 | c.1406A>C (p.His469Pro) c.1313A>C (p.His438Pro) c.662A>C (p.His221Pro) c.*210A>C (n.*210A>C) n.974-2440A>C c.*690A>C (n.*690A>C) n.993-2440A>C c.1016A>C (p.His339Pro) c.422A>C (p.His141Pro) c.416A>C (p.His139Pro) c.71A>C (p.His24Pro) c.192A>C (p.Pro64=) c.687-7937A>C (n.687-7937A>C) c.1394A>C (p.His465Pro) n.2631A>C n.995-2440A>C | |
9 | g.133436926A>G | CA375391809 | ADAMTS13 | c.1406A>G (p.His469Arg) c.1313A>G (p.His438Arg) c.662A>G (p.His221Arg) c.*210A>G (n.*210A>G) n.974-2440A>G c.*690A>G (n.*690A>G) n.993-2440A>G c.1016A>G (p.His339Arg) c.422A>G (p.His141Arg) c.416A>G (p.His139Arg) c.71A>G (p.His24Arg) c.192A>G (p.Pro64=) c.687-7937A>G (n.687-7937A>G) c.1394A>G (p.His465Arg) n.2631A>G n.995-2440A>G | |
9 | g.133436926A>T | CA375391811 | ADAMTS13 | c.1406A>T (p.His469Leu) c.1313A>T (p.His438Leu) c.662A>T (p.His221Leu) c.*210A>T (n.*210A>T) n.974-2440A>T c.*690A>T (n.*690A>T) n.993-2440A>T c.1016A>T (p.His339Leu) c.422A>T (p.His141Leu) c.416A>T (p.His139Leu) c.71A>T (p.His24Leu) c.192A>T (p.Pro64=) c.687-7937A>T (n.687-7937A>T) c.1394A>T (p.His465Leu) n.2631A>T n.995-2440A>T | gnomAD v4 |
9 | g.133436927C>A | CA375391813 | ADAMTS13 | c.1407C>A (p.His469Gln) c.1314C>A (p.His438Gln) c.663C>A (p.His221Gln) c.*211C>A (n.*211C>A) n.974-2439C>A c.*691C>A (n.*691C>A) n.993-2439C>A c.1017C>A (p.His339Gln) c.423C>A (p.His141Gln) c.417C>A (p.His139Gln) c.72C>A (p.His24Gln) c.193C>A (p.Leu65Met) c.687-7936C>A (n.687-7936C>A) c.1395C>A (p.His465Gln) n.2632C>A n.995-2439C>A | gnomAD v4 |
9 | g.133436927C>G | CA375391814 | ADAMTS13 | c.1407C>G (p.His469Gln) c.1314C>G (p.His438Gln) c.663C>G (p.His221Gln) c.*211C>G (n.*211C>G) n.974-2439C>G c.*691C>G (n.*691C>G) n.993-2439C>G c.1017C>G (p.His339Gln) c.423C>G (p.His141Gln) c.417C>G (p.His139Gln) c.72C>G (p.His24Gln) c.193C>G (p.Leu65Val) c.687-7936C>G (n.687-7936C>G) c.1395C>G (p.His465Gln) n.2632C>G n.995-2439C>G | gnomAD v4 |
9 | g.133436928T>A | CA375391816 | ADAMTS13 | c.1408T>A (p.Trp470Arg) c.1315T>A (p.Trp439Arg) c.664T>A (p.Trp222Arg) c.*212T>A (n.*212T>A) n.974-2438T>A c.*692T>A (n.*692T>A) n.993-2438T>A c.1018T>A (p.Trp340Arg) c.424T>A (p.Trp142Arg) c.418T>A (p.Trp140Arg) c.73T>A (p.Trp25Arg) c.194T>A (p.Leu65Gln) c.687-7935T>A (n.687-7935T>A) c.1396T>A (p.Trp466Arg) n.2633T>A n.995-2438T>A | |
9 | g.133436928T>C | CA375391820 | ADAMTS13 | c.1408T>C (p.Trp470Arg) c.1315T>C (p.Trp439Arg) c.664T>C (p.Trp222Arg) c.*212T>C (n.*212T>C) n.974-2438T>C c.*692T>C (n.*692T>C) n.993-2438T>C c.1018T>C (p.Trp340Arg) c.424T>C (p.Trp142Arg) c.418T>C (p.Trp140Arg) c.73T>C (p.Trp25Arg) c.194T>C (p.Leu65Pro) c.687-7935T>C (n.687-7935T>C) c.1396T>C (p.Trp466Arg) n.2633T>C n.995-2438T>C | gnomAD v4 |
9 | g.133436928T>G | CA375391818 | ADAMTS13 | c.1408T>G (p.Trp470Gly) c.1315T>G (p.Trp439Gly) c.664T>G (p.Trp222Gly) c.*212T>G (n.*212T>G) n.974-2438T>G c.*692T>G (n.*692T>G) n.993-2438T>G c.1018T>G (p.Trp340Gly) c.424T>G (p.Trp142Gly) c.418T>G (p.Trp140Gly) c.73T>G (p.Trp25Gly) c.194T>G (p.Leu65Arg) c.687-7935T>G (n.687-7935T>G) c.1396T>G (p.Trp466Gly) n.2633T>G n.995-2438T>G | |
9 | g.133436928dup | CA2695211618 | ADAMTS13 | c.1408dup (p.Trp470LeufsTer?) c.1315dup (p.Trp439LeufsTer?) c.664dup (p.Trp222LeufsTer?) c.*212dup (n.*212dup) n.974-2438dup c.*692dup (n.*692dup) n.993-2438dup c.1018dup (p.Trp340LeufsTer?) c.424dup (p.Trp142LeufsTer?) c.418dup (p.Trp140LeufsTer?) c.73dup (p.Trp25LeufsTer?) c.194dup (p.Cys67ValfsTer26) c.687-7935dup (n.687-7935dup) c.1396dup (p.Trp466LeufsTer?) n.2633dup n.995-2438dup | |
9 | g.133436929G>A | CA375391822 | ADAMTS13 | c.1409G>A (p.Trp470Ter) c.1316G>A (p.Trp439Ter) c.665G>A (p.Trp222Ter) c.*213G>A (n.*213G>A) n.974-2437G>A c.*693G>A (n.*693G>A) n.993-2437G>A c.1019G>A (p.Trp340Ter) c.425G>A (p.Trp142Ter) c.419G>A (p.Trp140Ter) c.74G>A (p.Trp25Ter) c.195G>A (p.Leu65=) c.687-7934G>A (n.687-7934G>A) c.1397G>A (p.Trp466Ter) n.2634G>A n.995-2437G>A | dbSNP gnomAD v4 |
9 | g.133436929G>C | CA375391823 | ADAMTS13 | c.1409G>C (p.Trp470Ser) c.1316G>C (p.Trp439Ser) c.665G>C (p.Trp222Ser) c.*213G>C (n.*213G>C) n.974-2437G>C c.*693G>C (n.*693G>C) n.993-2437G>C c.1019G>C (p.Trp340Ser) c.425G>C (p.Trp142Ser) c.419G>C (p.Trp140Ser) c.74G>C (p.Trp25Ser) c.195G>C (p.Leu65=) c.687-7934G>C (n.687-7934G>C) c.1397G>C (p.Trp466Ser) n.2634G>C n.995-2437G>C | |
9 | g.133436929G= | CA1882673168 | ADAMTS13 | c.1409G= (p.Trp470=) c.1316G= (p.Trp439=) c.665G= (p.Trp222=) c.*213G= (n.*213G=) n.974-2437G= c.*693G= (n.*693G=) n.993-2437G= c.1019G= (p.Trp340=) c.425G= (p.Trp142=) c.419G= (p.Trp140=) c.74G= (p.Trp25=) c.195G= (p.Leu65=) c.687-7934G= (n.687-7934G=) c.1397G= (p.Trp466=) n.2634G= n.995-2437G= | |
9 | g.133436929G>T | CA375391825 | ADAMTS13 | c.1409G>T (p.Trp470Leu) c.1316G>T (p.Trp439Leu) c.665G>T (p.Trp222Leu) c.*213G>T (n.*213G>T) n.974-2437G>T c.*693G>T (n.*693G>T) n.993-2437G>T c.1019G>T (p.Trp340Leu) c.425G>T (p.Trp142Leu) c.419G>T (p.Trp140Leu) c.74G>T (p.Trp25Leu) c.195G>T (p.Leu65=) c.687-7934G>T (n.687-7934G>T) c.1397G>T (p.Trp466Leu) n.2634G>T n.995-2437G>T | |
9 | g.133436932del | CA2692371411 | ADAMTS13 | c.1412del (p.Gly471ValfsTer26) c.1319del (p.Gly440ValfsTer26) c.668del (p.Gly223ValfsTer26) c.*216del (n.*216del) n.974-2434del c.*696del (n.*696del) n.993-2434del c.1022del (p.Gly341ValfsTer26) c.428del (p.Gly143ValfsTer26) c.422del (p.Gly141ValfsTer26) c.77del (p.Gly26ValfsTer26) c.198del (p.Cys67AlafsTer?) c.687-7931del (n.687-7931del) c.1400del (p.Gly467ValfsTer26) n.2637del n.995-2434del | gnomAD v4 |
9 | g.133436930G>A | CA375391827 | ADAMTS13 | c.1410G>A (p.Trp470Ter) c.1317G>A (p.Trp439Ter) c.666G>A (p.Trp222Ter) c.*214G>A (n.*214G>A) n.974-2436G>A c.*694G>A (n.*694G>A) n.993-2436G>A c.1020G>A (p.Trp340Ter) c.426G>A (p.Trp142Ter) c.420G>A (p.Trp140Ter) c.75G>A (p.Trp25Ter) c.196G>A (p.Gly66Arg) c.687-7933G>A (n.687-7933G>A) c.1398G>A (p.Trp466Ter) n.2635G>A n.995-2436G>A | gnomAD v4 |
9 | g.133436930G>C | CA375391829 | ADAMTS13 | c.1410G>C (p.Trp470Cys) c.1317G>C (p.Trp439Cys) c.666G>C (p.Trp222Cys) c.*214G>C (n.*214G>C) n.974-2436G>C c.*694G>C (n.*694G>C) n.993-2436G>C c.1020G>C (p.Trp340Cys) c.426G>C (p.Trp142Cys) c.420G>C (p.Trp140Cys) c.75G>C (p.Trp25Cys) c.196G>C (p.Gly66Arg) c.687-7933G>C (n.687-7933G>C) c.1398G>C (p.Trp466Cys) n.2635G>C n.995-2436G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.133436930G= | CA1882673169 | ADAMTS13 | c.1410G= (p.Trp470=) c.1317G= (p.Trp439=) c.666G= (p.Trp222=) c.*214G= (n.*214G=) n.974-2436G= c.*694G= (n.*694G=) n.993-2436G= c.1020G= (p.Trp340=) c.426G= (p.Trp142=) c.420G= (p.Trp140=) c.75G= (p.Trp25=) c.196G= (p.Gly66=) c.687-7933G= (n.687-7933G=) c.1398G= (p.Trp466=) n.2635G= n.995-2436G= | |
9 | g.133436930G>T | CA375391830 | ADAMTS13 | c.1410G>T (p.Trp470Cys) c.1317G>T (p.Trp439Cys) c.666G>T (p.Trp222Cys) c.*214G>T (n.*214G>T) n.974-2436G>T c.*694G>T (n.*694G>T) n.993-2436G>T c.1020G>T (p.Trp340Cys) c.426G>T (p.Trp142Cys) c.420G>T (p.Trp140Cys) c.75G>T (p.Trp25Cys) c.196G>T (p.Gly66Trp) c.687-7933G>T (n.687-7933G>T) c.1398G>T (p.Trp466Cys) n.2635G>T n.995-2436G>T | gnomAD v4 |