Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.44107723_44107790dup | CA2613200764 | EXT2 | c.11_78dup (p.Ile27ArgfsTer15) n.170_237dup c.-544+11871_-544+11938dup (n.-544+11871_-544+11938dup) n.185_252dup n.428_495dup n.2572_2639dup c.110_177dup (p.Ile60ArgfsTer15) c.149_216dup (p.Ile73ArgfsTer15) c.50_117dup (p.Ile40ArgfsTer15) | gnomAD v4 |
11 | g.44107776_44107780del | CA2499220949 | EXT2 | c.64_68del (p.His22AsnfsTer?) n.223_227del c.-544+11924_-544+11928del (n.-544+11924_-544+11928del) n.238_242del n.481_485del n.2625_2629del c.163_167del (p.His55AsnfsTer?) c.202_206del (p.His68AsnfsTer?) c.103_107del (p.His35AsnfsTer?) | ClinVar dbSNP |
11 | g.44107778C>A | CA380179548 | EXT2 | c.66C>A (p.His22Gln) n.225C>A c.-544+11926C>A (n.-544+11926C>A) n.240C>A n.483C>A n.2627C>A c.165C>A (p.His55Gln) c.204C>A (p.His68Gln) c.105C>A (p.His35Gln) | |
11 | g.44107778C= | CA1967875193 | EXT2 | c.66C= (p.His22=) n.225C= c.-544+11926C= (n.-544+11926C=) n.240C= n.483C= n.2627C= c.165C= (p.His55=) c.204C= (p.His68=) c.105C= (p.His35=) | |
11 | g.44107778C>G | CA221452714 | EXT2 | c.66C>G (p.His22Gln) n.225C>G c.-544+11926C>G (n.-544+11926C>G) n.240C>G n.483C>G n.2627C>G c.165C>G (p.His55Gln) c.204C>G (p.His68Gln) c.105C>G (p.His35Gln) | dbSNP |
11 | g.44107778C>T | CA474034948 | EXT2 | c.66C>T (p.His22=) n.225C>T c.-544+11926C>T (n.-544+11926C>T) n.240C>T n.483C>T n.2627C>T c.165C>T (p.His55=) c.204C>T (p.His68=) c.105C>T (p.His35=) | gnomAD v4 |
11 | g.44107778_44107779insACATAATGA | CA2724065078 | EXT2 | c.66_67insACATAATGA n.225_226insACATAATGA c.-544+11926_-544+11927insACATAATGA (n.-544+11926_-544+11927insACATAATGA) n.240_241insACATAATGA n.483_484insACATAATGA n.2627_2628insACATAATGA c.165_166insACATAATGA c.204_205insACATAATGA c.105_106insACATAATGA | dbSNP |
11 | g.44107779C>A | CA474034949 | EXT2 | c.67C>A (p.Arg23=) n.226C>A c.-544+11927C>A (n.-544+11927C>A) n.241C>A n.484C>A n.2628C>A c.166C>A (p.Arg56=) c.205C>A (p.Arg69=) c.106C>A (p.Arg36=) | |
11 | g.44107779C= | CA1967875197 | EXT2 | c.67C= (p.Arg23=) n.226C= c.-544+11927C= (n.-544+11927C=) n.241C= n.484C= n.2628C= c.166C= (p.Arg56=) c.205C= (p.Arg69=) c.106C= (p.Arg36=) | |
11 | g.44107779C>G | CA380179549 | EXT2 | c.67C>G (p.Arg23Gly) n.226C>G c.-544+11927C>G (n.-544+11927C>G) n.241C>G n.484C>G n.2628C>G c.166C>G (p.Arg56Gly) c.205C>G (p.Arg69Gly) c.106C>G (p.Arg36Gly) | |
11 | g.44107779C>T | CA5954811 | EXT2 | c.67C>T (p.Arg23Ter) n.226C>T c.-544+11927C>T (n.-544+11927C>T) n.241C>T n.484C>T n.2628C>T c.166C>T (p.Arg56Ter) c.205C>T (p.Arg69Ter) c.106C>T (p.Arg36Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.44107780G>A | CA5954812 | EXT2 | c.68G>A (p.Arg23Gln) n.227G>A c.-544+11928G>A (n.-544+11928G>A) n.242G>A n.485G>A n.2629G>A c.167G>A (p.Arg56Gln) c.206G>A (p.Arg69Gln) c.107G>A (p.Arg36Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107780G>C | CA380179550 | EXT2 | c.68G>C (p.Arg23Pro) n.227G>C c.-544+11928G>C (n.-544+11928G>C) n.242G>C n.485G>C n.2629G>C c.167G>C (p.Arg56Pro) c.206G>C (p.Arg69Pro) c.107G>C (p.Arg36Pro) | dbSNP |
11 | g.44107780G= | CA1967875204 | EXT2 | c.68G= (p.Arg23=) n.227G= c.-544+11928G= (n.-544+11928G=) n.242G= n.485G= n.2629G= c.167G= (p.Arg56=) c.206G= (p.Arg69=) c.107G= (p.Arg36=) | |
11 | g.44107780G>T | CA380179551 | EXT2 | c.68G>T (p.Arg23Leu) n.227G>T c.-544+11928G>T (n.-544+11928G>T) n.242G>T n.485G>T n.2629G>T c.167G>T (p.Arg56Leu) c.206G>T (p.Arg69Leu) c.107G>T (p.Arg36Leu) | gnomAD v4 |
11 | g.44107781A>C | CA474034950 | EXT2 | c.69A>C (p.Arg23=) n.228A>C c.-544+11929A>C (n.-544+11929A>C) n.243A>C n.486A>C n.2630A>C c.168A>C (p.Arg56=) c.207A>C (p.Arg69=) c.108A>C (p.Arg36=) | |
11 | g.44107781A>G | CA474034951 | EXT2 | c.69A>G (p.Arg23=) n.228A>G c.-544+11929A>G (n.-544+11929A>G) n.243A>G n.486A>G n.2630A>G c.168A>G (p.Arg56=) c.207A>G (p.Arg69=) c.108A>G (p.Arg36=) | |
11 | g.44107781A>T | CA474034952 | EXT2 | c.69A>T (p.Arg23=) n.228A>T c.-544+11929A>T (n.-544+11929A>T) n.243A>T n.486A>T n.2630A>T c.168A>T (p.Arg56=) c.207A>T (p.Arg69=) c.108A>T (p.Arg36=) | ClinVar dbSNP |
11 | g.44107782A>C | CA380179552 | EXT2 | c.70A>C (p.Ile24Leu) n.229A>C c.-544+11930A>C (n.-544+11930A>C) n.244A>C n.487A>C n.2631A>C c.169A>C (p.Ile57Leu) c.208A>C (p.Ile70Leu) c.109A>C (p.Ile37Leu) | |
11 | g.44107782A>G | CA380179553 | EXT2 | c.70A>G (p.Ile24Val) n.229A>G c.-544+11930A>G (n.-544+11930A>G) n.244A>G n.487A>G n.2631A>G c.169A>G (p.Ile57Val) c.208A>G (p.Ile70Val) c.109A>G (p.Ile37Val) | |
11 | g.44107782A>T | CA380179554 | EXT2 | c.70A>T (p.Ile24Phe) n.229A>T c.-544+11930A>T (n.-544+11930A>T) n.244A>T n.487A>T n.2631A>T c.169A>T (p.Ile57Phe) c.208A>T (p.Ile70Phe) c.109A>T (p.Ile37Phe) | |
11 | g.44107783T>A | CA380179555 | EXT2 | c.71T>A (p.Ile24Asn) n.230T>A c.-544+11931T>A (n.-544+11931T>A) n.245T>A n.488T>A n.2632T>A c.170T>A (p.Ile57Asn) c.209T>A (p.Ile70Asn) c.110T>A (p.Ile37Asn) | |
11 | g.44107783T>C | CA380179557 | EXT2 | c.71T>C (p.Ile24Thr) n.230T>C c.-544+11931T>C (n.-544+11931T>C) n.245T>C n.488T>C n.2632T>C c.170T>C (p.Ile57Thr) c.209T>C (p.Ile70Thr) c.110T>C (p.Ile37Thr) | |
11 | g.44107783T>G | CA380179556 | EXT2 | c.71T>G (p.Ile24Ser) n.230T>G c.-544+11931T>G (n.-544+11931T>G) n.245T>G n.488T>G n.2632T>G c.170T>G (p.Ile57Ser) c.209T>G (p.Ile70Ser) c.110T>G (p.Ile37Ser) | gnomAD v4 |
11 | g.44107784C>A | CA474034953 | EXT2 | c.72C>A (p.Ile24=) n.231C>A c.-544+11932C>A (n.-544+11932C>A) n.246C>A n.489C>A n.2633C>A c.171C>A (p.Ile57=) c.210C>A (p.Ile70=) c.111C>A (p.Ile37=) | |
11 | g.44107784C= | CA1967875211 | EXT2 | c.72C= (p.Ile24=) n.231C= c.-544+11932C= (n.-544+11932C=) n.246C= n.489C= n.2633C= c.171C= (p.Ile57=) c.210C= (p.Ile70=) c.111C= (p.Ile37=) | |
11 | g.44107784C>G | CA380179558 | EXT2 | c.72C>G (p.Ile24Met) n.231C>G c.-544+11932C>G (n.-544+11932C>G) n.246C>G n.489C>G n.2633C>G c.171C>G (p.Ile57Met) c.210C>G (p.Ile70Met) c.111C>G (p.Ile37Met) | |
11 | g.44107784C>T | CA474034954 | EXT2 | c.72C>T (p.Ile24=) n.231C>T c.-544+11932C>T (n.-544+11932C>T) n.246C>T n.489C>T n.2633C>T c.171C>T (p.Ile57=) c.210C>T (p.Ile70=) c.111C>T (p.Ile37=) | dbSNP gnomAD v4 |
11 | g.44107785T>A | CA380179560 | EXT2 | c.73T>A (p.Tyr25Asn) n.232T>A c.-544+11933T>A (n.-544+11933T>A) n.247T>A n.490T>A n.2634T>A c.172T>A (p.Tyr58Asn) c.211T>A (p.Tyr71Asn) c.112T>A (p.Tyr38Asn) | |
11 | g.44107785T>C | CA380179559 | EXT2 | c.73T>C (p.Tyr25His) n.232T>C c.-544+11933T>C (n.-544+11933T>C) n.247T>C n.490T>C n.2634T>C c.172T>C (p.Tyr58His) c.211T>C (p.Tyr71His) c.112T>C (p.Tyr38His) | |
11 | g.44107785T>G | CA380179561 | EXT2 | c.73T>G (p.Tyr25Asp) n.232T>G c.-544+11933T>G (n.-544+11933T>G) n.247T>G n.490T>G n.2634T>G c.172T>G (p.Tyr58Asp) c.211T>G (p.Tyr71Asp) c.112T>G (p.Tyr38Asp) | |
11 | g.44107785dup | CA2695213757 | EXT2 | c.73dup (p.Tyr25LeufsTer?) n.232dup c.-544+11933dup (n.-544+11933dup) n.247dup n.490dup n.2634dup c.172dup (p.Tyr58LeufsTer?) c.211dup (p.Tyr71LeufsTer?) c.112dup (p.Tyr38LeufsTer?) | |
11 | g.44107786A= | CA1967875217 | EXT2 | c.74A= (p.Tyr25=) n.233A= c.-544+11934A= (n.-544+11934A=) n.248A= n.491A= n.2635A= c.173A= (p.Tyr58=) c.212A= (p.Tyr71=) c.113A= (p.Tyr38=) | |
11 | g.44107786A>C | CA380179562 | EXT2 | c.74A>C (p.Tyr25Ser) n.233A>C c.-544+11934A>C (n.-544+11934A>C) n.248A>C n.491A>C n.2635A>C c.173A>C (p.Tyr58Ser) c.212A>C (p.Tyr71Ser) c.113A>C (p.Tyr38Ser) | |
11 | g.44107786A>G | CA380179564 | EXT2 | c.74A>G (p.Tyr25Cys) n.233A>G c.-544+11934A>G (n.-544+11934A>G) n.248A>G n.491A>G n.2635A>G c.173A>G (p.Tyr58Cys) c.212A>G (p.Tyr71Cys) c.113A>G (p.Tyr38Cys) | dbSNP gnomAD v4 |
11 | g.44107786A>T | CA380179563 | EXT2 | c.74A>T (p.Tyr25Phe) n.233A>T c.-544+11934A>T (n.-544+11934A>T) n.248A>T n.491A>T n.2635A>T c.173A>T (p.Tyr58Phe) c.212A>T (p.Tyr71Phe) c.113A>T (p.Tyr38Phe) | |
11 | g.44107787C>A | CA380179565 | EXT2 | c.75C>A (p.Tyr25Ter) n.234C>A c.-544+11935C>A (n.-544+11935C>A) n.249C>A n.492C>A n.2636C>A c.174C>A (p.Tyr58Ter) c.213C>A (p.Tyr71Ter) c.114C>A (p.Tyr38Ter) | |
11 | g.44107787C>G | CA380179566 | EXT2 | c.75C>G (p.Tyr25Ter) n.234C>G c.-544+11935C>G (n.-544+11935C>G) n.249C>G n.492C>G n.2636C>G c.174C>G (p.Tyr58Ter) c.213C>G (p.Tyr71Ter) c.114C>G (p.Tyr38Ter) | |
11 | g.44107787C>T | CA474034955 | EXT2 | c.75C>T (p.Tyr25=) n.234C>T c.-544+11935C>T (n.-544+11935C>T) n.249C>T n.492C>T n.2636C>T c.174C>T (p.Tyr58=) c.213C>T (p.Tyr71=) c.114C>T (p.Tyr38=) | gnomAD v4 |
11 | g.44107788T>A | CA380179567 | EXT2 | c.76T>A (p.Tyr26Asn) n.235T>A c.-544+11936T>A (n.-544+11936T>A) n.250T>A n.493T>A n.2637T>A c.175T>A (p.Tyr59Asn) c.214T>A (p.Tyr72Asn) c.115T>A (p.Tyr39Asn) | |
11 | g.44107788T>C | CA380179568 | EXT2 | c.76T>C (p.Tyr26His) n.235T>C c.-544+11936T>C (n.-544+11936T>C) n.250T>C n.493T>C n.2637T>C c.175T>C (p.Tyr59His) c.214T>C (p.Tyr72His) c.115T>C (p.Tyr39His) | |
11 | g.44107788T>G | CA380179569 | EXT2 | c.76T>G (p.Tyr26Asp) n.235T>G c.-544+11936T>G (n.-544+11936T>G) n.250T>G n.493T>G n.2637T>G c.175T>G (p.Tyr59Asp) c.214T>G (p.Tyr72Asp) c.115T>G (p.Tyr39Asp) | |
11 | g.44107789A= | CA1967875220 | EXT2 | c.77A= (p.Tyr26=) n.236A= c.-544+11937A= (n.-544+11937A=) n.251A= n.494A= n.2638A= c.176A= (p.Tyr59=) c.215A= (p.Tyr72=) c.116A= (p.Tyr39=) | |
11 | g.44107789A>C | CA380179570 | EXT2 | c.77A>C (p.Tyr26Ser) n.236A>C c.-544+11937A>C (n.-544+11937A>C) n.251A>C n.494A>C n.2638A>C c.176A>C (p.Tyr59Ser) c.215A>C (p.Tyr72Ser) c.116A>C (p.Tyr39Ser) | |
11 | g.44107789A>G | CA380179571 | EXT2 | c.77A>G (p.Tyr26Cys) n.236A>G c.-544+11937A>G (n.-544+11937A>G) n.251A>G n.494A>G n.2638A>G c.176A>G (p.Tyr59Cys) c.215A>G (p.Tyr72Cys) c.116A>G (p.Tyr39Cys) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.44107789A>T | CA380179572 | EXT2 | c.77A>T (p.Tyr26Phe) n.236A>T c.-544+11937A>T (n.-544+11937A>T) n.251A>T n.494A>T n.2638A>T c.176A>T (p.Tyr59Phe) c.215A>T (p.Tyr72Phe) c.116A>T (p.Tyr39Phe) | |
11 | g.44107790T>A | CA380179573 | EXT2 | c.78T>A (p.Tyr26Ter) n.237T>A c.-544+11938T>A (n.-544+11938T>A) n.252T>A n.495T>A n.2639T>A c.177T>A (p.Tyr59Ter) c.216T>A (p.Tyr72Ter) c.117T>A (p.Tyr39Ter) | |
11 | g.44107790T>C | CA474034956 | EXT2 | c.78T>C (p.Tyr26=) n.237T>C c.-544+11938T>C (n.-544+11938T>C) n.252T>C n.495T>C n.2639T>C c.177T>C (p.Tyr59=) c.216T>C (p.Tyr72=) c.117T>C (p.Tyr39=) | gnomAD v4 |
11 | g.44107790T>G | CA380179574 | EXT2 | c.78T>G (p.Tyr26Ter) n.237T>G c.-544+11938T>G (n.-544+11938T>G) n.252T>G n.495T>G n.2639T>G c.177T>G (p.Tyr59Ter) c.216T>G (p.Tyr72Ter) c.117T>G (p.Tyr39Ter) | |
11 | g.44107790dup | CA2695213758 | EXT2 | c.78dup (p.Ile27TyrfsTer29) n.237dup c.-544+11938dup (n.-544+11938dup) n.252dup n.495dup n.2639dup c.177dup (p.Ile60TyrfsTer29) c.78dup (p.Ile27TyrfsTer?) c.216dup (p.Ile73TyrfsTer29) c.117dup (p.Ile40TyrfsTer29) | |
11 | g.44107791A>C | CA380179575 | EXT2 | c.79A>C (p.Ile27Leu) n.238A>C c.-544+11939A>C (n.-544+11939A>C) n.253A>C n.496A>C n.2640A>C c.178A>C (p.Ile60Leu) c.217A>C (p.Ile73Leu) c.118A>C (p.Ile40Leu) | |
11 | g.44107791A>G | CA380179576 | EXT2 | c.79A>G (p.Ile27Val) n.238A>G c.-544+11939A>G (n.-544+11939A>G) n.253A>G n.496A>G n.2640A>G c.178A>G (p.Ile60Val) c.217A>G (p.Ile73Val) c.118A>G (p.Ile40Val) | |
11 | g.44107791A>T | CA380179577 | EXT2 | c.79A>T (p.Ile27Phe) n.238A>T c.-544+11939A>T (n.-544+11939A>T) n.253A>T n.496A>T n.2640A>T c.178A>T (p.Ile60Phe) c.217A>T (p.Ile73Phe) c.118A>T (p.Ile40Phe) | COSMIC COSMIC |
11 | g.44107792T>A | CA380179580 | EXT2 | c.80T>A (p.Ile27Asn) n.239T>A c.-544+11940T>A (n.-544+11940T>A) n.254T>A n.497T>A n.2641T>A c.179T>A (p.Ile60Asn) c.218T>A (p.Ile73Asn) c.119T>A (p.Ile40Asn) | |
11 | g.44107792T>C | CA380179578 | EXT2 | c.80T>C (p.Ile27Thr) n.239T>C c.-544+11940T>C (n.-544+11940T>C) n.254T>C n.497T>C n.2641T>C c.179T>C (p.Ile60Thr) c.218T>C (p.Ile73Thr) c.119T>C (p.Ile40Thr) | |
11 | g.44107792T>G | CA380179579 | EXT2 | c.80T>G (p.Ile27Ser) n.239T>G c.-544+11940T>G (n.-544+11940T>G) n.254T>G n.497T>G n.2641T>G c.179T>G (p.Ile60Ser) c.218T>G (p.Ile73Ser) c.119T>G (p.Ile40Ser) | |
11 | g.44107793del | CA2695213759 | EXT2 | c.81del (p.Thr28ProfsTer?) n.240del c.-544+11941del (n.-544+11941del) n.255del n.498del n.2642del c.180del (p.Thr61ProfsTer?) c.219del (p.Thr74ProfsTer?) c.120del (p.Thr41ProfsTer?) | |
11 | g.44107793C>A | CA474034957 | EXT2 | c.81C>A (p.Ile27=) n.240C>A c.-544+11941C>A (n.-544+11941C>A) n.255C>A n.498C>A n.2642C>A c.180C>A (p.Ile60=) c.219C>A (p.Ile73=) c.120C>A (p.Ile40=) | |
11 | g.44107793C>G | CA380179581 | EXT2 | c.81C>G (p.Ile27Met) n.240C>G c.-544+11941C>G (n.-544+11941C>G) n.255C>G n.498C>G n.2642C>G c.180C>G (p.Ile60Met) c.219C>G (p.Ile73Met) c.120C>G (p.Ile40Met) | |
11 | g.44107793C>T | CA474034958 | EXT2 | c.81C>T (p.Ile27=) n.240C>T c.-544+11941C>T (n.-544+11941C>T) n.255C>T n.498C>T n.2642C>T c.180C>T (p.Ile60=) c.219C>T (p.Ile73=) c.120C>T (p.Ile40=) | dbSNP |
11 | g.44107794A>C | CA380179582 | EXT2 | c.82A>C (p.Thr28Pro) n.241A>C c.-544+11942A>C (n.-544+11942A>C) n.256A>C n.499A>C n.2643A>C c.181A>C (p.Thr61Pro) c.220A>C (p.Thr74Pro) c.121A>C (p.Thr41Pro) | |
11 | g.44107794A>G | CA380179583 | EXT2 | c.82A>G (p.Thr28Ala) n.241A>G c.-544+11942A>G (n.-544+11942A>G) n.256A>G n.499A>G n.2643A>G c.181A>G (p.Thr61Ala) c.220A>G (p.Thr74Ala) c.121A>G (p.Thr41Ala) | |
11 | g.44107794A>T | CA380179584 | EXT2 | c.82A>T (p.Thr28Ser) n.241A>T c.-544+11942A>T (n.-544+11942A>T) n.256A>T n.499A>T n.2643A>T c.181A>T (p.Thr61Ser) c.220A>T (p.Thr74Ser) c.121A>T (p.Thr41Ser) | |
11 | g.44107794_44107855del | CA2739270392 | EXT2 | c.82_143del (p.Thr28PhefsTer7) n.241_302del c.-544+11942_-544+12003del (n.-544+11942_-544+12003del) n.256_317del n.499_560del n.2643_2704del c.181_242del (p.Thr61PhefsTer7) c.82_143del (p.Thr28PhefsTer?) c.220_281del (p.Thr74PhefsTer7) c.121_182del (p.Thr41PhefsTer7) | ClinVar |
11 | g.44107795C>A | CA380179585 | EXT2 | c.83C>A (p.Thr28Asn) n.242C>A c.-544+11943C>A (n.-544+11943C>A) n.257C>A n.500C>A n.2644C>A c.182C>A (p.Thr61Asn) c.221C>A (p.Thr74Asn) c.122C>A (p.Thr41Asn) | |
11 | g.44107795C= | CA1967875222 | EXT2 | c.83C= (p.Thr28=) n.242C= c.-544+11943C= (n.-544+11943C=) n.257C= n.500C= n.2644C= c.182C= (p.Thr61=) c.221C= (p.Thr74=) c.122C= (p.Thr41=) | |
11 | g.44107795C>G | CA380179586 | EXT2 | c.83C>G (p.Thr28Ser) n.242C>G c.-544+11943C>G (n.-544+11943C>G) n.257C>G n.500C>G n.2644C>G c.182C>G (p.Thr61Ser) c.221C>G (p.Thr74Ser) c.122C>G (p.Thr41Ser) | gnomAD v4 |
11 | g.44107795C>T | CA380179587 | EXT2 | c.83C>T (p.Thr28Ile) n.242C>T c.-544+11943C>T (n.-544+11943C>T) n.257C>T n.500C>T n.2644C>T c.182C>T (p.Thr61Ile) c.221C>T (p.Thr74Ile) c.122C>T (p.Thr41Ile) | dbSNP gnomAD v2 |
11 | g.44107796C>A | CA474034959 | EXT2 | c.84C>A (p.Thr28=) n.243C>A c.-544+11944C>A (n.-544+11944C>A) n.258C>A n.501C>A n.2645C>A c.183C>A (p.Thr61=) c.222C>A (p.Thr74=) c.123C>A (p.Thr41=) | ClinVar dbSNP gnomAD v4 |
11 | g.44107796C= | CA1967875227 | EXT2 | c.84C= (p.Thr28=) n.243C= c.-544+11944C= (n.-544+11944C=) n.258C= n.501C= n.2645C= c.183C= (p.Thr61=) c.222C= (p.Thr74=) c.123C= (p.Thr41=) | |
11 | g.44107796C>G | CA474034960 | EXT2 | c.84C>G (p.Thr28=) n.243C>G c.-544+11944C>G (n.-544+11944C>G) n.258C>G n.501C>G n.2645C>G c.183C>G (p.Thr61=) c.222C>G (p.Thr74=) c.123C>G (p.Thr41=) | |
11 | g.44107796C>T | CA474034961 | EXT2 | c.84C>T (p.Thr28=) n.243C>T c.-544+11944C>T (n.-544+11944C>T) n.258C>T n.501C>T n.2645C>T c.183C>T (p.Thr61=) c.222C>T (p.Thr74=) c.123C>T (p.Thr41=) | ClinVar dbSNP |
11 | g.44107796_44107798delinsCCT | CA1967875226 | EXT2 | c.84_86delinsCCT (p.Thr28=) n.243_245delinsCCT c.-544+11944_-544+11946delinsCCT (n.-544+11944_-544+11946delinsCCT) n.258_260delinsCCT n.501_503delinsCCT n.2645_2647delinsCCT c.183_185delinsCCT (p.Thr61=) c.222_224delinsCCT (p.Thr74=) c.123_125delinsCCT (p.Thr41=) | |
11 | g.44107798_44107805del | CA474034962 | EXT2 | c.86_93del (p.Leu29HisfsTer24) n.245_252del c.-544+11946_-544+11953del (n.-544+11946_-544+11953del) n.260_267del n.503_510del n.2647_2654del c.185_192del (p.Leu62HisfsTer24) c.86_93del (p.Leu29HisfsTer?) c.224_231del (p.Leu75HisfsTer24) c.125_132del (p.Leu42HisfsTer24) | |
11 | g.44107797C>A | CA380179588 | EXT2 | c.85C>A (p.Leu29Ile) n.244C>A c.-544+11945C>A (n.-544+11945C>A) n.259C>A n.502C>A n.2646C>A c.184C>A (p.Leu62Ile) c.223C>A (p.Leu75Ile) c.124C>A (p.Leu42Ile) | dbSNP |
11 | g.44107797C= | CA1967875236 | EXT2 | c.85C= (p.Leu29=) n.244C= c.-544+11945C= (n.-544+11945C=) n.259C= n.502C= n.2646C= c.184C= (p.Leu62=) c.223C= (p.Leu75=) c.124C= (p.Leu42=) | |
11 | g.44107797C>G | CA380179589 | EXT2 | c.85C>G (p.Leu29Val) n.244C>G c.-544+11945C>G (n.-544+11945C>G) n.259C>G n.502C>G n.2646C>G c.184C>G (p.Leu62Val) c.223C>G (p.Leu75Val) c.124C>G (p.Leu42Val) | |
11 | g.44107797C>T | CA380179590 | EXT2 | c.85C>T (p.Leu29Phe) n.244C>T c.-544+11945C>T (n.-544+11945C>T) n.259C>T n.502C>T n.2646C>T c.184C>T (p.Leu62Phe) c.223C>T (p.Leu75Phe) c.124C>T (p.Leu42Phe) | dbSNP gnomAD v4 |
11 | g.44107799_44107800del | CA10588518 | EXT2 | c.87_88del (p.Phe30LeufsTer25) n.246_247del c.-544+11947_-544+11948del (n.-544+11947_-544+11948del) n.261_262del n.504_505del n.2648_2649del c.186_187del (p.Phe63LeufsTer25) c.87_88del (p.Phe30LeufsTer?) c.225_226del (p.Phe76LeufsTer25) c.126_127del (p.Phe43LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107800_44107804del | CA2695213760 | EXT2 | c.88_92del (p.Phe30HisfsTer24) n.247_251del c.-544+11948_-544+11952del (n.-544+11948_-544+11952del) n.262_266del n.505_509del n.2649_2653del c.187_191del (p.Phe63HisfsTer24) c.88_92del (p.Phe30HisfsTer?) c.226_230del (p.Phe76HisfsTer24) c.127_131del (p.Phe43HisfsTer24) | |
11 | g.44107798T>A | CA380179592 | EXT2 | c.86T>A (p.Leu29His) n.245T>A c.-544+11946T>A (n.-544+11946T>A) n.260T>A n.503T>A n.2647T>A c.185T>A (p.Leu62His) c.224T>A (p.Leu75His) c.125T>A (p.Leu42His) | |
11 | g.44107798T>C | CA380179593 | EXT2 | c.86T>C (p.Leu29Pro) n.245T>C c.-544+11946T>C (n.-544+11946T>C) n.260T>C n.503T>C n.2647T>C c.185T>C (p.Leu62Pro) c.224T>C (p.Leu75Pro) c.125T>C (p.Leu42Pro) | |
11 | g.44107798T>G | CA380179591 | EXT2 | c.86T>G (p.Leu29Arg) n.245T>G c.-544+11946T>G (n.-544+11946T>G) n.260T>G n.503T>G n.2647T>G c.185T>G (p.Leu62Arg) c.224T>G (p.Leu75Arg) c.125T>G (p.Leu42Arg) | |
11 | g.44107799C>A | CA474034963 | EXT2 | c.87C>A (p.Leu29=) n.246C>A c.-544+11947C>A (n.-544+11947C>A) n.261C>A n.504C>A n.2648C>A c.186C>A (p.Leu62=) c.225C>A (p.Leu75=) c.126C>A (p.Leu42=) | |
11 | g.44107799C>G | CA474034964 | EXT2 | c.87C>G (p.Leu29=) n.246C>G c.-544+11947C>G (n.-544+11947C>G) n.261C>G n.504C>G n.2648C>G c.186C>G (p.Leu62=) c.225C>G (p.Leu75=) c.126C>G (p.Leu42=) | |
11 | g.44107799C>T | CA474034965 | EXT2 | c.87C>T (p.Leu29=) n.246C>T c.-544+11947C>T (n.-544+11947C>T) n.261C>T n.504C>T n.2648C>T c.186C>T (p.Leu62=) c.225C>T (p.Leu75=) c.126C>T (p.Leu42=) | |
11 | g.44107800T>A | CA380179594 | EXT2 | c.88T>A (p.Phe30Ile) n.247T>A c.-544+11948T>A (n.-544+11948T>A) n.262T>A n.505T>A n.2649T>A c.187T>A (p.Phe63Ile) c.226T>A (p.Phe76Ile) c.127T>A (p.Phe43Ile) | |
11 | g.44107800T>C | CA380179595 | EXT2 | c.88T>C (p.Phe30Leu) n.247T>C c.-544+11948T>C (n.-544+11948T>C) n.262T>C n.505T>C n.2649T>C c.187T>C (p.Phe63Leu) c.226T>C (p.Phe76Leu) c.127T>C (p.Phe43Leu) | |
11 | g.44107800T>G | CA380179596 | EXT2 | c.88T>G (p.Phe30Val) n.247T>G c.-544+11948T>G (n.-544+11948T>G) n.262T>G n.505T>G n.2649T>G c.187T>G (p.Phe63Val) c.226T>G (p.Phe76Val) c.127T>G (p.Phe43Val) | |
11 | g.44107801del | CA2573146274 | EXT2 | c.89del (p.Phe30SerfsTer29) n.248del c.-544+11949del (n.-544+11949del) n.263del n.506del n.2650del c.188del (p.Phe63SerfsTer29) c.89del (p.Phe30SerfsTer?) c.227del (p.Phe76SerfsTer29) c.128del (p.Phe43SerfsTer29) | ClinVar dbSNP |
11 | g.44107801T>A | CA380179597 | EXT2 | c.89T>A (p.Phe30Tyr) n.248T>A c.-544+11949T>A (n.-544+11949T>A) n.263T>A n.506T>A n.2650T>A c.188T>A (p.Phe63Tyr) c.227T>A (p.Phe76Tyr) c.128T>A (p.Phe43Tyr) | |
11 | g.44107801T>C | CA380179598 | EXT2 | c.89T>C (p.Phe30Ser) n.248T>C c.-544+11949T>C (n.-544+11949T>C) n.263T>C n.506T>C n.2650T>C c.188T>C (p.Phe63Ser) c.227T>C (p.Phe76Ser) c.128T>C (p.Phe43Ser) | |
11 | g.44107801T>G | CA380179599 | EXT2 | c.89T>G (p.Phe30Cys) n.248T>G c.-544+11949T>G (n.-544+11949T>G) n.263T>G n.506T>G n.2650T>G c.188T>G (p.Phe63Cys) c.227T>G (p.Phe76Cys) c.128T>G (p.Phe43Cys) | |
11 | g.44107802C>A | CA380179600 | EXT2 | c.90C>A (p.Phe30Leu) n.249C>A c.-544+11950C>A (n.-544+11950C>A) n.264C>A n.507C>A n.2651C>A c.189C>A (p.Phe63Leu) c.228C>A (p.Phe76Leu) c.129C>A (p.Phe43Leu) | |
11 | g.44107802C>G | CA380179601 | EXT2 | c.90C>G (p.Phe30Leu) n.249C>G c.-544+11950C>G (n.-544+11950C>G) n.264C>G n.507C>G n.2651C>G c.189C>G (p.Phe63Leu) c.228C>G (p.Phe76Leu) c.129C>G (p.Phe43Leu) | |
11 | g.44107802C>T | CA474034966 | EXT2 | c.90C>T (p.Phe30=) n.249C>T c.-544+11950C>T (n.-544+11950C>T) n.264C>T n.507C>T n.2651C>T c.189C>T (p.Phe63=) c.228C>T (p.Phe76=) c.129C>T (p.Phe43=) | COSMIC COSMIC |
11 | g.44107803T>A | CA380179602 | EXT2 | c.91T>A (p.Ser31Thr) n.250T>A c.-544+11951T>A (n.-544+11951T>A) n.265T>A n.508T>A n.2652T>A c.190T>A (p.Ser64Thr) c.229T>A (p.Ser77Thr) c.130T>A (p.Ser44Thr) | dbSNP |
11 | g.44107803T>C | CA380179603 | EXT2 | c.91T>C (p.Ser31Pro) n.250T>C c.-544+11951T>C (n.-544+11951T>C) n.265T>C n.508T>C n.2652T>C c.190T>C (p.Ser64Pro) c.229T>C (p.Ser77Pro) c.130T>C (p.Ser44Pro) | |
11 | g.44107803T>G | CA380179604 | EXT2 | c.91T>G (p.Ser31Ala) n.250T>G c.-544+11951T>G (n.-544+11951T>G) n.265T>G n.508T>G n.2652T>G c.190T>G (p.Ser64Ala) c.229T>G (p.Ser77Ala) c.130T>G (p.Ser44Ala) | |
11 | g.44107803T= | CA1967875239 | EXT2 | c.91T= (p.Ser31=) n.250T= c.-544+11951T= (n.-544+11951T=) n.265T= n.508T= n.2652T= c.190T= (p.Ser64=) c.229T= (p.Ser77=) c.130T= (p.Ser44=) | |
11 | g.44107804C>A | CA380179607 | EXT2 | c.92C>A (p.Ser31Tyr) n.251C>A c.-544+11952C>A (n.-544+11952C>A) n.266C>A n.509C>A n.2653C>A c.191C>A (p.Ser64Tyr) c.230C>A (p.Ser77Tyr) c.131C>A (p.Ser44Tyr) | |
11 | g.44107804C>G | CA380179606 | EXT2 | c.92C>G (p.Ser31Cys) n.251C>G c.-544+11952C>G (n.-544+11952C>G) n.266C>G n.509C>G n.2653C>G c.191C>G (p.Ser64Cys) c.230C>G (p.Ser77Cys) c.131C>G (p.Ser44Cys) | |
11 | g.44107804C>T | CA380179605 | EXT2 | c.92C>T (p.Ser31Phe) n.251C>T c.-544+11952C>T (n.-544+11952C>T) n.266C>T n.509C>T n.2653C>T c.191C>T (p.Ser64Phe) c.230C>T (p.Ser77Phe) c.131C>T (p.Ser44Phe) | gnomAD v4 |
11 | g.44107805del | CA2580084098 | EXT2 | c.93del (p.Ile32LeufsTer27) n.252del c.-544+11953del (n.-544+11953del) n.267del n.510del n.2654del c.192del (p.Ile65LeufsTer27) c.93del (p.Ile32LeufsTer?) c.231del (p.Ile78LeufsTer27) c.132del (p.Ile45LeufsTer27) | ClinVar |
11 | g.44107805C>A | CA474034967 | EXT2 | c.93C>A (p.Ser31=) n.252C>A c.-544+11953C>A (n.-544+11953C>A) n.267C>A n.510C>A n.2654C>A c.192C>A (p.Ser64=) c.231C>A (p.Ser77=) c.132C>A (p.Ser44=) | |
11 | g.44107805C= | CA1967875242 | EXT2 | c.93C= (p.Ser31=) n.252C= c.-544+11953C= (n.-544+11953C=) n.267C= n.510C= n.2654C= c.192C= (p.Ser64=) c.231C= (p.Ser77=) c.132C= (p.Ser44=) | |
11 | g.44107805C>G | CA474034968 | EXT2 | c.93C>G (p.Ser31=) n.252C>G c.-544+11953C>G (n.-544+11953C>G) n.267C>G n.510C>G n.2654C>G c.192C>G (p.Ser64=) c.231C>G (p.Ser77=) c.132C>G (p.Ser44=) | |
11 | g.44107805C>T | CA5954813 | EXT2 | c.93C>T (p.Ser31=) n.252C>T c.-544+11953C>T (n.-544+11953C>T) n.267C>T n.510C>T n.2654C>T c.192C>T (p.Ser64=) c.231C>T (p.Ser77=) c.132C>T (p.Ser44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107806A= | CA1967875248 | EXT2 | c.94A= (p.Ile32=) n.253A= c.-544+11954A= (n.-544+11954A=) n.268A= n.511A= n.2655A= c.193A= (p.Ile65=) c.232A= (p.Ile78=) c.133A= (p.Ile45=) | |
11 | g.44107806A>C | CA380179608 | EXT2 | c.94A>C (p.Ile32Leu) n.253A>C c.-544+11954A>C (n.-544+11954A>C) n.268A>C n.511A>C n.2655A>C c.193A>C (p.Ile65Leu) c.232A>C (p.Ile78Leu) c.133A>C (p.Ile45Leu) | |
11 | g.44107806A>G | CA5954814 | EXT2 | c.94A>G (p.Ile32Val) n.253A>G c.-544+11954A>G (n.-544+11954A>G) n.268A>G n.511A>G n.2655A>G c.193A>G (p.Ile65Val) c.232A>G (p.Ile78Val) c.133A>G (p.Ile45Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107806A>T | CA380179609 | EXT2 | c.94A>T (p.Ile32Phe) n.253A>T c.-544+11954A>T (n.-544+11954A>T) n.268A>T n.511A>T n.2655A>T c.193A>T (p.Ile65Phe) c.232A>T (p.Ile78Phe) c.133A>T (p.Ile45Phe) | |
11 | g.44107807T>A | CA380179610 | EXT2 | c.95T>A (p.Ile32Asn) n.254T>A c.-544+11955T>A (n.-544+11955T>A) n.269T>A n.512T>A n.2656T>A c.194T>A (p.Ile65Asn) c.233T>A (p.Ile78Asn) c.134T>A (p.Ile45Asn) | |
11 | g.44107807T>C | CA380179611 | EXT2 | c.95T>C (p.Ile32Thr) n.254T>C c.-544+11955T>C (n.-544+11955T>C) n.269T>C n.512T>C n.2656T>C c.194T>C (p.Ile65Thr) c.233T>C (p.Ile78Thr) c.134T>C (p.Ile45Thr) | |
11 | g.44107807T>G | CA380179612 | EXT2 | c.95T>G (p.Ile32Ser) n.254T>G c.-544+11955T>G (n.-544+11955T>G) n.269T>G n.512T>G n.2656T>G c.194T>G (p.Ile65Ser) c.233T>G (p.Ile78Ser) c.134T>G (p.Ile45Ser) | |
11 | g.44107808T>A | CA474034969 | EXT2 | c.96T>A (p.Ile32=) n.255T>A c.-544+11956T>A (n.-544+11956T>A) n.270T>A n.513T>A n.2657T>A c.195T>A (p.Ile65=) c.234T>A (p.Ile78=) c.135T>A (p.Ile45=) | |
11 | g.44107808T>C | CA5954815 | EXT2 | c.96T>C (p.Ile32=) n.255T>C c.-544+11956T>C (n.-544+11956T>C) n.270T>C n.513T>C n.2657T>C c.195T>C (p.Ile65=) c.234T>C (p.Ile78=) c.135T>C (p.Ile45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107808T>G | CA5954816 | EXT2 | c.96T>G (p.Ile32Met) n.255T>G c.-544+11956T>G (n.-544+11956T>G) n.270T>G n.513T>G n.2657T>G c.195T>G (p.Ile65Met) c.234T>G (p.Ile78Met) c.135T>G (p.Ile45Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107808T= | CA1967875254 | EXT2 | c.96T= (p.Ile32=) n.255T= c.-544+11956T= (n.-544+11956T=) n.270T= n.513T= n.2657T= c.195T= (p.Ile65=) c.234T= (p.Ile78=) c.135T= (p.Ile45=) | |
11 | g.44107809G>A | CA380179613 | EXT2 | c.97G>A (p.Val33Ile) n.256G>A c.-544+11957G>A (n.-544+11957G>A) n.271G>A n.514G>A n.2658G>A c.196G>A (p.Val66Ile) c.235G>A (p.Val79Ile) c.136G>A (p.Val46Ile) | dbSNP |
11 | g.44107809G>C | CA380179614 | EXT2 | c.97G>C (p.Val33Leu) n.256G>C c.-544+11957G>C (n.-544+11957G>C) n.271G>C n.514G>C n.2658G>C c.196G>C (p.Val66Leu) c.235G>C (p.Val79Leu) c.136G>C (p.Val46Leu) | dbSNP |
11 | g.44107809G= | CA1967875256 | EXT2 | c.97G= (p.Val33=) n.256G= c.-544+11957G= (n.-544+11957G=) n.271G= n.514G= n.2658G= c.196G= (p.Val66=) c.235G= (p.Val79=) c.136G= (p.Val46=) | |
11 | g.44107809G>T | CA5954817 | EXT2 | c.97G>T (p.Val33Phe) n.256G>T c.-544+11957G>T (n.-544+11957G>T) n.271G>T n.514G>T n.2658G>T c.196G>T (p.Val66Phe) c.235G>T (p.Val79Phe) c.136G>T (p.Val46Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107810T>A | CA380179617 | EXT2 | c.98T>A (p.Val33Asp) n.257T>A c.-544+11958T>A (n.-544+11958T>A) n.272T>A n.515T>A n.2659T>A c.197T>A (p.Val66Asp) c.236T>A (p.Val79Asp) c.137T>A (p.Val46Asp) | |
11 | g.44107810T>C | CA380179616 | EXT2 | c.98T>C (p.Val33Ala) n.257T>C c.-544+11958T>C (n.-544+11958T>C) n.272T>C n.515T>C n.2659T>C c.197T>C (p.Val66Ala) c.236T>C (p.Val79Ala) c.137T>C (p.Val46Ala) | |
11 | g.44107810T>G | CA380179615 | EXT2 | c.98T>G (p.Val33Gly) n.257T>G c.-544+11958T>G (n.-544+11958T>G) n.272T>G n.515T>G n.2659T>G c.197T>G (p.Val66Gly) c.236T>G (p.Val79Gly) c.137T>G (p.Val46Gly) | |
11 | g.44107811C>A | CA474034970 | EXT2 | c.99C>A (p.Val33=) n.258C>A c.-544+11959C>A (n.-544+11959C>A) n.273C>A n.516C>A n.2660C>A c.198C>A (p.Val66=) c.237C>A (p.Val79=) c.138C>A (p.Val46=) | dbSNP |
11 | g.44107811C= | CA1967875257 | EXT2 | c.99C= (p.Val33=) n.258C= c.-544+11959C= (n.-544+11959C=) n.273C= n.516C= n.2660C= c.198C= (p.Val66=) c.237C= (p.Val79=) c.138C= (p.Val46=) | |
11 | g.44107811C>G | CA474034971 | EXT2 | c.99C>G (p.Val33=) n.258C>G c.-544+11959C>G (n.-544+11959C>G) n.273C>G n.516C>G n.2660C>G c.198C>G (p.Val66=) c.237C>G (p.Val79=) c.138C>G (p.Val46=) | |
11 | g.44107811C>T | CA474034972 | EXT2 | c.99C>T (p.Val33=) n.258C>T c.-544+11959C>T (n.-544+11959C>T) n.273C>T n.516C>T n.2660C>T c.198C>T (p.Val66=) c.237C>T (p.Val79=) c.138C>T (p.Val46=) | gnomAD v4 |
11 | g.44107812C>A | CA380179618 | EXT2 | c.100C>A (p.Leu34Ile) n.259C>A c.-544+11960C>A (n.-544+11960C>A) n.274C>A n.517C>A n.2661C>A c.199C>A (p.Leu67Ile) c.238C>A (p.Leu80Ile) c.139C>A (p.Leu47Ile) | |
11 | g.44107812C>G | CA380179620 | EXT2 | c.100C>G (p.Leu34Val) n.259C>G c.-544+11960C>G (n.-544+11960C>G) n.274C>G n.517C>G n.2661C>G c.199C>G (p.Leu67Val) c.238C>G (p.Leu80Val) c.139C>G (p.Leu47Val) | gnomAD v4 |
11 | g.44107812C>T | CA380179619 | EXT2 | c.100C>T (p.Leu34Phe) n.259C>T c.-544+11960C>T (n.-544+11960C>T) n.274C>T n.517C>T n.2661C>T c.199C>T (p.Leu67Phe) c.238C>T (p.Leu80Phe) c.139C>T (p.Leu47Phe) | dbSNP gnomAD v4 |
11 | g.44107813T>A | CA380179621 | EXT2 | c.101T>A (p.Leu34His) n.260T>A c.-544+11961T>A (n.-544+11961T>A) n.275T>A n.518T>A n.2662T>A c.200T>A (p.Leu67His) c.239T>A (p.Leu80His) c.140T>A (p.Leu47His) | |
11 | g.44107813T>C | CA380179622 | EXT2 | c.101T>C (p.Leu34Pro) n.260T>C c.-544+11961T>C (n.-544+11961T>C) n.275T>C n.518T>C n.2662T>C c.200T>C (p.Leu67Pro) c.239T>C (p.Leu80Pro) c.140T>C (p.Leu47Pro) | |
11 | g.44107813T>G | CA380179623 | EXT2 | c.101T>G (p.Leu34Arg) n.260T>G c.-544+11961T>G (n.-544+11961T>G) n.275T>G n.518T>G n.2662T>G c.200T>G (p.Leu67Arg) c.239T>G (p.Leu80Arg) c.140T>G (p.Leu47Arg) | |
11 | g.44107814C>A | CA474034973 | EXT2 | c.102C>A (p.Leu34=) n.261C>A c.-544+11962C>A (n.-544+11962C>A) n.276C>A n.519C>A n.2663C>A c.201C>A (p.Leu67=) c.240C>A (p.Leu80=) c.141C>A (p.Leu47=) | |
11 | g.44107814C>G | CA474034974 | EXT2 | c.102C>G (p.Leu34=) n.261C>G c.-544+11962C>G (n.-544+11962C>G) n.276C>G n.519C>G n.2663C>G c.201C>G (p.Leu67=) c.240C>G (p.Leu80=) c.141C>G (p.Leu47=) | |
11 | g.44107814C>T | CA474034975 | EXT2 | c.102C>T (p.Leu34=) n.261C>T c.-544+11962C>T (n.-544+11962C>T) n.276C>T n.519C>T n.2663C>T c.201C>T (p.Leu67=) c.240C>T (p.Leu80=) c.141C>T (p.Leu47=) | gnomAD v4 |
11 | g.44107815C>A | CA380179624 | EXT2 | c.103C>A (p.Leu35Met) n.262C>A c.-544+11963C>A (n.-544+11963C>A) n.277C>A n.520C>A n.2664C>A c.202C>A (p.Leu68Met) c.241C>A (p.Leu81Met) c.142C>A (p.Leu48Met) | |
11 | g.44107815C>G | CA380179625 | EXT2 | c.103C>G (p.Leu35Val) n.262C>G c.-544+11963C>G (n.-544+11963C>G) n.277C>G n.520C>G n.2664C>G c.202C>G (p.Leu68Val) c.241C>G (p.Leu81Val) c.142C>G (p.Leu48Val) | |
11 | g.44107815C>T | CA474034976 | EXT2 | c.103C>T (p.Leu35=) n.262C>T c.-544+11963C>T (n.-544+11963C>T) n.277C>T n.520C>T n.2664C>T c.202C>T (p.Leu68=) c.241C>T (p.Leu81=) c.142C>T (p.Leu48=) | |
11 | g.44107816T>A | CA380179626 | EXT2 | c.104T>A (p.Leu35Gln) n.263T>A c.-544+11964T>A (n.-544+11964T>A) n.278T>A n.521T>A n.2665T>A c.203T>A (p.Leu68Gln) c.242T>A (p.Leu81Gln) c.143T>A (p.Leu48Gln) | |
11 | g.44107816T>C | CA380179627 | EXT2 | c.104T>C (p.Leu35Pro) n.263T>C c.-544+11964T>C (n.-544+11964T>C) n.278T>C n.521T>C n.2665T>C c.203T>C (p.Leu68Pro) c.242T>C (p.Leu81Pro) c.143T>C (p.Leu48Pro) | |
11 | g.44107816T>G | CA380179628 | EXT2 | c.104T>G (p.Leu35Arg) n.263T>G c.-544+11964T>G (n.-544+11964T>G) n.278T>G n.521T>G n.2665T>G c.203T>G (p.Leu68Arg) c.242T>G (p.Leu81Arg) c.143T>G (p.Leu48Arg) | |
11 | g.44107817G>A | CA5954818 | EXT2 | c.105G>A (p.Leu35=) n.264G>A c.-544+11965G>A (n.-544+11965G>A) n.279G>A n.522G>A n.2666G>A c.204G>A (p.Leu68=) c.243G>A (p.Leu81=) c.144G>A (p.Leu48=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107817G>C | CA474034978 | EXT2 | c.105G>C (p.Leu35=) n.264G>C c.-544+11965G>C (n.-544+11965G>C) n.279G>C n.522G>C n.2666G>C c.204G>C (p.Leu68=) c.243G>C (p.Leu81=) c.144G>C (p.Leu48=) | |
11 | g.44107817G= | CA1967875258 | EXT2 | c.105G= (p.Leu35=) n.264G= c.-544+11965G= (n.-544+11965G=) n.279G= n.522G= n.2666G= c.204G= (p.Leu68=) c.243G= (p.Leu81=) c.144G= (p.Leu48=) | |
11 | g.44107817G>T | CA474034977 | EXT2 | c.105G>T (p.Leu35=) n.264G>T c.-544+11965G>T (n.-544+11965G>T) n.279G>T n.522G>T n.2666G>T c.204G>T (p.Leu68=) c.243G>T (p.Leu81=) c.144G>T (p.Leu48=) | |
11 | g.44107818G>A | CA380179629 | EXT2 | c.106G>A (p.Gly36Ser) n.265G>A c.-544+11966G>A (n.-544+11966G>A) n.280G>A n.523G>A n.2667G>A c.205G>A (p.Gly69Ser) c.244G>A (p.Gly82Ser) c.145G>A (p.Gly49Ser) | |
11 | g.44107818G>C | CA380179630 | EXT2 | c.106G>C (p.Gly36Arg) n.265G>C c.-544+11966G>C (n.-544+11966G>C) n.280G>C n.523G>C n.2667G>C c.205G>C (p.Gly69Arg) c.244G>C (p.Gly82Arg) c.145G>C (p.Gly49Arg) | dbSNP |
11 | g.44107818G= | CA1967875261 | EXT2 | c.106G= (p.Gly36=) n.265G= c.-544+11966G= (n.-544+11966G=) n.280G= n.523G= n.2667G= c.205G= (p.Gly69=) c.244G= (p.Gly82=) c.145G= (p.Gly49=) | |
11 | g.44107818G>T | CA380179631 | EXT2 | c.106G>T (p.Gly36Cys) n.265G>T c.-544+11966G>T (n.-544+11966G>T) n.280G>T n.523G>T n.2667G>T c.205G>T (p.Gly69Cys) c.244G>T (p.Gly82Cys) c.145G>T (p.Gly49Cys) | dbSNP |
11 | g.44107819G>A | CA380179634 | EXT2 | c.107G>A (p.Gly36Asp) n.266G>A c.-544+11967G>A (n.-544+11967G>A) n.281G>A n.524G>A n.2668G>A c.206G>A (p.Gly69Asp) c.245G>A (p.Gly82Asp) c.146G>A (p.Gly49Asp) | |
11 | g.44107819G>C | CA380179632 | EXT2 | c.107G>C (p.Gly36Ala) n.266G>C c.-544+11967G>C (n.-544+11967G>C) n.281G>C n.524G>C n.2668G>C c.206G>C (p.Gly69Ala) c.245G>C (p.Gly82Ala) c.146G>C (p.Gly49Ala) | dbSNP |
11 | g.44107819G>T | CA380179633 | EXT2 | c.107G>T (p.Gly36Val) n.266G>T c.-544+11967G>T (n.-544+11967G>T) n.281G>T n.524G>T n.2668G>T c.206G>T (p.Gly69Val) c.245G>T (p.Gly82Val) c.146G>T (p.Gly49Val) | |
11 | g.44107820C>A | CA474034979 | EXT2 | c.108C>A (p.Gly36=) n.267C>A c.-544+11968C>A (n.-544+11968C>A) n.282C>A n.525C>A n.2669C>A c.207C>A (p.Gly69=) c.246C>A (p.Gly82=) c.147C>A (p.Gly49=) | gnomAD v4 |
11 | g.44107820C>G | CA474034980 | EXT2 | c.108C>G (p.Gly36=) n.267C>G c.-544+11968C>G (n.-544+11968C>G) n.282C>G n.525C>G n.2669C>G c.207C>G (p.Gly69=) c.246C>G (p.Gly82=) c.147C>G (p.Gly49=) | |
11 | g.44107820C>T | CA474034981 | EXT2 | c.108C>T (p.Gly36=) n.267C>T c.-544+11968C>T (n.-544+11968C>T) n.282C>T n.525C>T n.2669C>T c.207C>T (p.Gly69=) c.246C>T (p.Gly82=) c.147C>T (p.Gly49=) | |
11 | g.44107821C>A | CA380179635 | EXT2 | c.109C>A (p.Leu37Ile) n.268C>A c.-544+11969C>A (n.-544+11969C>A) n.283C>A n.526C>A n.2670C>A c.208C>A (p.Leu70Ile) c.247C>A (p.Leu83Ile) c.148C>A (p.Leu50Ile) | |
11 | g.44107821C>G | CA380179636 | EXT2 | c.109C>G (p.Leu37Val) n.268C>G c.-544+11969C>G (n.-544+11969C>G) n.283C>G n.526C>G n.2670C>G c.208C>G (p.Leu70Val) c.247C>G (p.Leu83Val) c.148C>G (p.Leu50Val) | |
11 | g.44107821C>T | CA380179637 | EXT2 | c.109C>T (p.Leu37Phe) n.268C>T c.-544+11969C>T (n.-544+11969C>T) n.283C>T n.526C>T n.2670C>T c.208C>T (p.Leu70Phe) c.247C>T (p.Leu83Phe) c.148C>T (p.Leu50Phe) | |
11 | g.44107822T>A | CA380179638 | EXT2 | c.110T>A (p.Leu37His) n.269T>A c.-544+11970T>A (n.-544+11970T>A) n.284T>A n.527T>A n.2671T>A c.209T>A (p.Leu70His) c.248T>A (p.Leu83His) c.149T>A (p.Leu50His) | |
11 | g.44107822T>C | CA380179639 | EXT2 | c.110T>C (p.Leu37Pro) n.269T>C c.-544+11970T>C (n.-544+11970T>C) n.284T>C n.527T>C n.2671T>C c.209T>C (p.Leu70Pro) c.248T>C (p.Leu83Pro) c.149T>C (p.Leu50Pro) | dbSNP |
11 | g.44107822T>G | CA380179640 | EXT2 | c.110T>G (p.Leu37Arg) n.269T>G c.-544+11970T>G (n.-544+11970T>G) n.284T>G n.527T>G n.2671T>G c.209T>G (p.Leu70Arg) c.248T>G (p.Leu83Arg) c.149T>G (p.Leu50Arg) | |
11 | g.44107823C>A | CA474034982 | EXT2 | c.111C>A (p.Leu37=) n.270C>A c.-544+11971C>A (n.-544+11971C>A) n.285C>A n.528C>A n.2672C>A c.210C>A (p.Leu70=) c.249C>A (p.Leu83=) c.150C>A (p.Leu50=) | gnomAD v4 |
11 | g.44107823C= | CA1967875264 | EXT2 | c.111C= (p.Leu37=) n.270C= c.-544+11971C= (n.-544+11971C=) n.285C= n.528C= n.2672C= c.210C= (p.Leu70=) c.249C= (p.Leu83=) c.150C= (p.Leu50=) | |
11 | g.44107823C>G | CA474034983 | EXT2 | c.111C>G (p.Leu37=) n.270C>G c.-544+11971C>G (n.-544+11971C>G) n.285C>G n.528C>G n.2672C>G c.210C>G (p.Leu70=) c.249C>G (p.Leu83=) c.150C>G (p.Leu50=) | dbSNP |
11 | g.44107823C>T | CA5954819 | EXT2 | c.111C>T (p.Leu37=) n.270C>T c.-544+11971C>T (n.-544+11971C>T) n.285C>T n.528C>T n.2672C>T c.210C>T (p.Leu70=) c.249C>T (p.Leu83=) c.150C>T (p.Leu50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107824A= | CA1967875270 | EXT2 | c.112A= (p.Ile38=) n.271A= c.-544+11972A= (n.-544+11972A=) n.286A= n.529A= n.2673A= c.211A= (p.Ile71=) c.250A= (p.Ile84=) c.151A= (p.Ile51=) | |
11 | g.44107824A>C | CA380179641 | EXT2 | c.112A>C (p.Ile38Leu) n.271A>C c.-544+11972A>C (n.-544+11972A>C) n.286A>C n.529A>C n.2673A>C c.211A>C (p.Ile71Leu) c.250A>C (p.Ile84Leu) c.151A>C (p.Ile51Leu) | |
11 | g.44107824A>G | CA380179642 | EXT2 | c.112A>G (p.Ile38Val) n.271A>G c.-544+11972A>G (n.-544+11972A>G) n.286A>G n.529A>G n.2673A>G c.211A>G (p.Ile71Val) c.250A>G (p.Ile84Val) c.151A>G (p.Ile51Val) | gnomAD v4 |
11 | g.44107824A>T | CA380179643 | EXT2 | c.112A>T (p.Ile38Phe) n.271A>T c.-544+11972A>T (n.-544+11972A>T) n.286A>T n.529A>T n.2673A>T c.211A>T (p.Ile71Phe) c.250A>T (p.Ile84Phe) c.151A>T (p.Ile51Phe) | |
11 | g.44107824_44107825del | CA2695213761 | EXT2 | c.112_113del (p.Ile38CysfsTer17) n.271_272del c.-544+11972_-544+11973del (n.-544+11972_-544+11973del) n.286_287del n.529_530del n.2673_2674del c.211_212del (p.Ile71CysfsTer17) c.112_113del (p.Ile38CysfsTer?) c.250_251del (p.Ile84CysfsTer17) c.151_152del (p.Ile51CysfsTer17) | |
11 | g.44107824_44107826delinsATT | CA1967875268 | EXT2 | c.112_114delinsATT (p.Ile38=) n.271_273delinsATT c.-544+11972_-544+11974delinsATT (n.-544+11972_-544+11974delinsATT) n.286_288delinsATT n.529_531delinsATT n.2673_2675delinsATT c.211_213delinsATT (p.Ile71=) c.250_252delinsATT (p.Ile84=) c.151_153delinsATT (p.Ile51=) | |
11 | g.44107824_44107825insG | CA1967875273 | EXT2 | c.112_113insG (p.Ile38SerfsTer18) n.271_272insG c.-544+11972_-544+11973insG (n.-544+11972_-544+11973insG) n.286_287insG n.529_530insG n.2673_2674insG c.211_212insG (p.Ile71SerfsTer18) c.112_113insG (p.Ile38SerfsTer?) c.250_251insG (p.Ile84SerfsTer18) c.151_152insG (p.Ile51SerfsTer18) | dbSNP |
11 | g.44107825T>A | CA380179646 | EXT2 | c.113T>A (p.Ile38Asn) n.272T>A c.-544+11973T>A (n.-544+11973T>A) n.287T>A n.530T>A n.2674T>A c.212T>A (p.Ile71Asn) c.251T>A (p.Ile84Asn) c.152T>A (p.Ile51Asn) | |
11 | g.44107825T>C | CA380179645 | EXT2 | c.113T>C (p.Ile38Thr) n.272T>C c.-544+11973T>C (n.-544+11973T>C) n.287T>C n.530T>C n.2674T>C c.212T>C (p.Ile71Thr) c.251T>C (p.Ile84Thr) c.152T>C (p.Ile51Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107825T>G | CA380179644 | EXT2 | c.113T>G (p.Ile38Ser) n.272T>G c.-544+11973T>G (n.-544+11973T>G) n.287T>G n.530T>G n.2674T>G c.212T>G (p.Ile71Ser) c.251T>G (p.Ile84Ser) c.152T>G (p.Ile51Ser) | dbSNP |
11 | g.44107825T= | CA1967875276 | EXT2 | c.113T= (p.Ile38=) n.272T= c.-544+11973T= (n.-544+11973T=) n.287T= n.530T= n.2674T= c.212T= (p.Ile71=) c.251T= (p.Ile84=) c.152T= (p.Ile51=) | |
11 | g.44107825_44107826del | CA599370102 | EXT2 | c.113_114del (p.Ile38SerfsTer17) n.272_273del c.-544+11973_-544+11974del (n.-544+11973_-544+11974del) n.287_288del n.530_531del n.2674_2675del c.212_213del (p.Ile71SerfsTer17) c.113_114del (p.Ile38SerfsTer?) c.251_252del (p.Ile84SerfsTer17) c.152_153del (p.Ile51SerfsTer17) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107826T>A | CA474034984 | EXT2 | c.114T>A (p.Ile38=) n.273T>A c.-544+11974T>A (n.-544+11974T>A) n.288T>A n.531T>A n.2675T>A c.213T>A (p.Ile71=) c.252T>A (p.Ile84=) c.153T>A (p.Ile51=) | gnomAD v4 |
11 | g.44107826T>C | CA474034985 | EXT2 | c.114T>C (p.Ile38=) n.273T>C c.-544+11974T>C (n.-544+11974T>C) n.288T>C n.531T>C n.2675T>C c.213T>C (p.Ile71=) c.252T>C (p.Ile84=) c.153T>C (p.Ile51=) | |
11 | g.44107826T>G | CA5954820 | EXT2 | c.114T>G (p.Ile38Met) n.273T>G c.-544+11974T>G (n.-544+11974T>G) n.288T>G n.531T>G n.2675T>G c.213T>G (p.Ile71Met) c.252T>G (p.Ile84Met) c.153T>G (p.Ile51Met) | dbSNP ExAC gnomAD v2 |
11 | g.44107826T= | CA1967875293 | EXT2 | c.114T= (p.Ile38=) n.273T= c.-544+11974T= (n.-544+11974T=) n.288T= n.531T= n.2675T= c.213T= (p.Ile71=) c.252T= (p.Ile84=) c.153T= (p.Ile51=) | |
11 | g.44107826_44107828delinsTGC | CA1967875295 | EXT2 | c.114_116delinsTGC (p.Ile38=) n.273_275delinsTGC c.-544+11974_-544+11976delinsTGC (n.-544+11974_-544+11976delinsTGC) n.288_290delinsTGC n.531_533delinsTGC n.2675_2677delinsTGC c.213_215delinsTGC (p.Ile71=) c.252_254delinsTGC (p.Ile84=) c.153_155delinsTGC (p.Ile51=) | |
11 | g.44107827G>A | CA380179647 | EXT2 | c.115G>A (p.Ala39Thr) n.274G>A c.-544+11975G>A (n.-544+11975G>A) n.289G>A n.532G>A n.2676G>A c.214G>A (p.Ala72Thr) c.253G>A (p.Ala85Thr) c.154G>A (p.Ala52Thr) | |
11 | g.44107827G>C | CA380179648 | EXT2 | c.115G>C (p.Ala39Pro) n.274G>C c.-544+11975G>C (n.-544+11975G>C) n.289G>C n.532G>C n.2676G>C c.214G>C (p.Ala72Pro) c.253G>C (p.Ala85Pro) c.154G>C (p.Ala52Pro) | |
11 | g.44107827G>T | CA380179649 | EXT2 | c.115G>T (p.Ala39Ser) n.274G>T c.-544+11975G>T (n.-544+11975G>T) n.289G>T n.532G>T n.2676G>T c.214G>T (p.Ala72Ser) c.253G>T (p.Ala85Ser) c.154G>T (p.Ala52Ser) | |
11 | g.44107827_44107828insGGG | CA599370103 | EXT2 | c.115_116insGGG (p.Ile38_Ala39insGly) n.274_275insGGG c.-544+11975_-544+11976insGGG (n.-544+11975_-544+11976insGGG) n.289_290insGGG n.532_533insGGG n.2676_2677insGGG c.214_215insGGG (p.Ile71_Ala72insGly) c.253_254insGGG (p.Ile84_Ala85insGly) c.154_155insGGG (p.Ile51_Ala52insGly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107827_44107828del | CA937445001 | EXT2 | c.115_116del (p.Ala39HisfsTer16) n.274_275del c.-544+11975_-544+11976del (n.-544+11975_-544+11976del) n.289_290del n.532_533del n.2676_2677del c.214_215del (p.Ala72HisfsTer16) c.115_116del (p.Ala39HisfsTer?) c.253_254del (p.Ala85HisfsTer16) c.154_155del (p.Ala52HisfsTer16) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107828C>A | CA380179650 | EXT2 | c.116C>A (p.Ala39Asp) n.275C>A c.-544+11976C>A (n.-544+11976C>A) n.290C>A n.533C>A n.2677C>A c.215C>A (p.Ala72Asp) c.254C>A (p.Ala85Asp) c.155C>A (p.Ala52Asp) | |
11 | g.44107828C= | CA1967875300 | EXT2 | c.116C= (p.Ala39=) n.275C= c.-544+11976C= (n.-544+11976C=) n.290C= n.533C= n.2677C= c.215C= (p.Ala72=) c.254C= (p.Ala85=) c.155C= (p.Ala52=) | |
11 | g.44107828C>G | CA380179651 | EXT2 | c.116C>G (p.Ala39Gly) n.275C>G c.-544+11976C>G (n.-544+11976C>G) n.290C>G n.533C>G n.2677C>G c.215C>G (p.Ala72Gly) c.254C>G (p.Ala85Gly) c.155C>G (p.Ala52Gly) | |
11 | g.44107828C>T | CA221452801 | EXT2 | c.116C>T (p.Ala39Val) n.275C>T c.-544+11976C>T (n.-544+11976C>T) n.290C>T n.533C>T n.2677C>T c.215C>T (p.Ala72Val) c.254C>T (p.Ala85Val) c.155C>T (p.Ala52Val) | dbSNP gnomAD v2 |
11 | g.44107829C>A | CA474034986 | EXT2 | c.117C>A (p.Ala39=) n.276C>A c.-544+11977C>A (n.-544+11977C>A) n.291C>A n.534C>A n.2678C>A c.216C>A (p.Ala72=) c.255C>A (p.Ala85=) c.156C>A (p.Ala52=) | |
11 | g.44107829C>G | CA474034987 | EXT2 | c.117C>G (p.Ala39=) n.276C>G c.-544+11977C>G (n.-544+11977C>G) n.291C>G n.534C>G n.2678C>G c.216C>G (p.Ala72=) c.255C>G (p.Ala85=) c.156C>G (p.Ala52=) | |
11 | g.44107829C>T | CA474034988 | EXT2 | c.117C>T (p.Ala39=) n.276C>T c.-544+11977C>T (n.-544+11977C>T) n.291C>T n.534C>T n.2678C>T c.216C>T (p.Ala72=) c.255C>T (p.Ala85=) c.156C>T (p.Ala52=) | ClinVar dbSNP |
11 | g.44107830A>C | CA380179652 | EXT2 | c.118A>C (p.Thr40Pro) n.277A>C c.-544+11978A>C (n.-544+11978A>C) n.292A>C n.535A>C n.2679A>C c.217A>C (p.Thr73Pro) c.256A>C (p.Thr86Pro) c.157A>C (p.Thr53Pro) | |
11 | g.44107830A>G | CA380179653 | EXT2 | c.118A>G (p.Thr40Ala) n.277A>G c.-544+11978A>G (n.-544+11978A>G) n.292A>G n.535A>G n.2679A>G c.217A>G (p.Thr73Ala) c.256A>G (p.Thr86Ala) c.157A>G (p.Thr53Ala) | gnomAD v4 |
11 | g.44107830A>T | CA380179654 | EXT2 | c.118A>T (p.Thr40Ser) n.277A>T c.-544+11978A>T (n.-544+11978A>T) n.292A>T n.535A>T n.2679A>T c.217A>T (p.Thr73Ser) c.256A>T (p.Thr86Ser) c.157A>T (p.Thr53Ser) | dbSNP |
11 | g.44107831C>A | CA380179655 | EXT2 | c.119C>A (p.Thr40Asn) n.278C>A c.-544+11979C>A (n.-544+11979C>A) n.293C>A n.536C>A n.2680C>A c.218C>A (p.Thr73Asn) c.257C>A (p.Thr86Asn) c.158C>A (p.Thr53Asn) | |
11 | g.44107831C>G | CA380179656 | EXT2 | c.119C>G (p.Thr40Ser) n.278C>G c.-544+11979C>G (n.-544+11979C>G) n.293C>G n.536C>G n.2680C>G c.218C>G (p.Thr73Ser) c.257C>G (p.Thr86Ser) c.158C>G (p.Thr53Ser) | |
11 | g.44107831C>T | CA380179657 | EXT2 | c.119C>T (p.Thr40Ile) n.278C>T c.-544+11979C>T (n.-544+11979C>T) n.293C>T n.536C>T n.2680C>T c.218C>T (p.Thr73Ile) c.257C>T (p.Thr86Ile) c.158C>T (p.Thr53Ile) | dbSNP gnomAD v4 |
11 | g.44107831_44107832del | CA2695213762 | EXT2 | c.119_120del (p.Thr40ArgfsTer15) n.278_279del c.-544+11979_-544+11980del (n.-544+11979_-544+11980del) n.293_294del n.536_537del n.2680_2681del c.218_219del (p.Thr73ArgfsTer15) c.119_120del (p.Thr40ArgfsTer?) c.257_258del (p.Thr86ArgfsTer15) c.158_159del (p.Thr53ArgfsTer15) | |
11 | g.44107832T>A | CA474034989 | EXT2 | c.120T>A (p.Thr40=) n.279T>A c.-544+11980T>A (n.-544+11980T>A) n.294T>A n.537T>A n.2681T>A c.219T>A (p.Thr73=) c.258T>A (p.Thr86=) c.159T>A (p.Thr53=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107832T>C | CA474034990 | EXT2 | c.120T>C (p.Thr40=) n.279T>C c.-544+11980T>C (n.-544+11980T>C) n.294T>C n.537T>C n.2681T>C c.219T>C (p.Thr73=) c.258T>C (p.Thr86=) c.159T>C (p.Thr53=) | |
11 | g.44107832T>G | CA474034991 | EXT2 | c.120T>G (p.Thr40=) n.279T>G c.-544+11980T>G (n.-544+11980T>G) n.294T>G n.537T>G n.2681T>G c.219T>G (p.Thr73=) c.258T>G (p.Thr86=) c.159T>G (p.Thr53=) | |
11 | g.44107832T= | CA1967875307 | EXT2 | c.120T= (p.Thr40=) n.279T= c.-544+11980T= (n.-544+11980T=) n.294T= n.537T= n.2681T= c.219T= (p.Thr73=) c.258T= (p.Thr86=) c.159T= (p.Thr53=) | |
11 | g.44107833G>A | CA380179660 | EXT2 | c.121G>A (p.Gly41Ser) n.280G>A c.-544+11981G>A (n.-544+11981G>A) n.295G>A n.538G>A n.2682G>A c.220G>A (p.Gly74Ser) c.259G>A (p.Gly87Ser) c.160G>A (p.Gly54Ser) | |
11 | g.44107833G>C | CA380179658 | EXT2 | c.121G>C (p.Gly41Arg) n.280G>C c.-544+11981G>C (n.-544+11981G>C) n.295G>C n.538G>C n.2682G>C c.220G>C (p.Gly74Arg) c.259G>C (p.Gly87Arg) c.160G>C (p.Gly54Arg) | dbSNP |
11 | g.44107833G>T | CA380179659 | EXT2 | c.121G>T (p.Gly41Cys) n.280G>T c.-544+11981G>T (n.-544+11981G>T) n.295G>T n.538G>T n.2682G>T c.220G>T (p.Gly74Cys) c.259G>T (p.Gly87Cys) c.160G>T (p.Gly54Cys) | |
11 | g.44107834G>A | CA380179661 | EXT2 | c.122G>A (p.Gly41Asp) n.281G>A c.-544+11982G>A (n.-544+11982G>A) n.296G>A n.539G>A n.2683G>A c.221G>A (p.Gly74Asp) c.260G>A (p.Gly87Asp) c.161G>A (p.Gly54Asp) | dbSNP |
11 | g.44107834G>C | CA380179662 | EXT2 | c.122G>C (p.Gly41Ala) n.281G>C c.-544+11982G>C (n.-544+11982G>C) n.296G>C n.539G>C n.2683G>C c.221G>C (p.Gly74Ala) c.260G>C (p.Gly87Ala) c.161G>C (p.Gly54Ala) | |
11 | g.44107834G>T | CA380179663 | EXT2 | c.122G>T (p.Gly41Val) n.281G>T c.-544+11982G>T (n.-544+11982G>T) n.296G>T n.539G>T n.2683G>T c.221G>T (p.Gly74Val) c.260G>T (p.Gly87Val) c.161G>T (p.Gly54Val) | |
11 | g.44107835C>A | CA474034994 | EXT2 | c.123C>A (p.Gly41=) n.282C>A c.-544+11983C>A (n.-544+11983C>A) n.297C>A n.540C>A n.2684C>A c.222C>A (p.Gly74=) c.261C>A (p.Gly87=) c.162C>A (p.Gly54=) | |
11 | g.44107835C= | CA1967875315 | EXT2 | c.123C= (p.Gly41=) n.282C= c.-544+11983C= (n.-544+11983C=) n.297C= n.540C= n.2684C= c.222C= (p.Gly74=) c.261C= (p.Gly87=) c.162C= (p.Gly54=) | |
11 | g.44107835C>G | CA474034993 | EXT2 | c.123C>G (p.Gly41=) n.282C>G c.-544+11983C>G (n.-544+11983C>G) n.297C>G n.540C>G n.2684C>G c.222C>G (p.Gly74=) c.261C>G (p.Gly87=) c.162C>G (p.Gly54=) | |
11 | g.44107835C>T | CA474034992 | EXT2 | c.123C>T (p.Gly41=) n.282C>T c.-544+11983C>T (n.-544+11983C>T) n.297C>T n.540C>T n.2684C>T c.222C>T (p.Gly74=) c.261C>T (p.Gly87=) c.162C>T (p.Gly54=) | dbSNP gnomAD v4 |
11 | g.44107836del | CA2695213763 | EXT2 | c.124del (p.Met42CysfsTer17) n.283del c.-544+11984del (n.-544+11984del) n.298del n.541del n.2685del c.223del (p.Met75CysfsTer17) c.124del (p.Met42CysfsTer?) c.262del (p.Met88CysfsTer17) c.163del (p.Met55CysfsTer17) | |
11 | g.44107836A= | CA1967875326 | EXT2 | c.124A= (p.Met42=) n.283A= c.-544+11984A= (n.-544+11984A=) n.298A= n.541A= n.2685A= c.223A= (p.Met75=) c.262A= (p.Met88=) c.163A= (p.Met55=) | |
11 | g.44107836A>C | CA380179664 | EXT2 | c.124A>C (p.Met42Leu) n.283A>C c.-544+11984A>C (n.-544+11984A>C) n.298A>C n.541A>C n.2685A>C c.223A>C (p.Met75Leu) c.262A>C (p.Met88Leu) c.163A>C (p.Met55Leu) | |
11 | g.44107836A>G | CA159126 | EXT2 | c.124A>G (p.Met42Val) n.283A>G c.-544+11984A>G (n.-544+11984A>G) n.298A>G n.541A>G n.2685A>G c.223A>G (p.Met75Val) c.262A>G (p.Met88Val) c.163A>G (p.Met55Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107836A>T | CA380179665 | EXT2 | c.124A>T (p.Met42Leu) n.283A>T c.-544+11984A>T (n.-544+11984A>T) n.298A>T n.541A>T n.2685A>T c.223A>T (p.Met75Leu) c.262A>T (p.Met88Leu) c.163A>T (p.Met55Leu) | |
11 | g.44107837T>A | CA380179666 | EXT2 | c.125T>A (p.Met42Lys) n.284T>A c.-544+11985T>A (n.-544+11985T>A) n.299T>A n.542T>A n.2686T>A c.224T>A (p.Met75Lys) c.263T>A (p.Met88Lys) c.164T>A (p.Met55Lys) | |
11 | g.44107837T>C | CA380179667 | EXT2 | c.125T>C (p.Met42Thr) n.284T>C c.-544+11985T>C (n.-544+11985T>C) n.299T>C n.542T>C n.2686T>C c.224T>C (p.Met75Thr) c.263T>C (p.Met88Thr) c.164T>C (p.Met55Thr) | |
11 | g.44107837T>G | CA380179668 | EXT2 | c.125T>G (p.Met42Arg) n.284T>G c.-544+11985T>G (n.-544+11985T>G) n.299T>G n.542T>G n.2686T>G c.224T>G (p.Met75Arg) c.263T>G (p.Met88Arg) c.164T>G (p.Met55Arg) | |
11 | g.44107838G>A | CA380179669 | EXT2 | c.126G>A (p.Met42Ile) n.285G>A c.-544+11986G>A (n.-544+11986G>A) n.300G>A n.543G>A n.2687G>A c.225G>A (p.Met75Ile) c.264G>A (p.Met88Ile) c.165G>A (p.Met55Ile) | dbSNP gnomAD v4 |
11 | g.44107838G>C | CA380179670 | EXT2 | c.126G>C (p.Met42Ile) n.285G>C c.-544+11986G>C (n.-544+11986G>C) n.300G>C n.543G>C n.2687G>C c.225G>C (p.Met75Ile) c.264G>C (p.Met88Ile) c.165G>C (p.Met55Ile) | |
11 | g.44107838G>T | CA380179671 | EXT2 | c.126G>T (p.Met42Ile) n.285G>T c.-544+11986G>T (n.-544+11986G>T) n.300G>T n.543G>T n.2687G>T c.225G>T (p.Met75Ile) c.264G>T (p.Met88Ile) c.165G>T (p.Met55Ile) | |
11 | g.44107839T>A | CA380179673 | EXT2 | c.127T>A (p.Phe43Ile) n.286T>A c.-544+11987T>A (n.-544+11987T>A) n.301T>A n.544T>A n.2688T>A c.226T>A (p.Phe76Ile) c.265T>A (p.Phe89Ile) c.166T>A (p.Phe56Ile) | |
11 | g.44107839T>C | CA380179674 | EXT2 | c.127T>C (p.Phe43Leu) n.286T>C c.-544+11987T>C (n.-544+11987T>C) n.301T>C n.544T>C n.2688T>C c.226T>C (p.Phe76Leu) c.265T>C (p.Phe89Leu) c.166T>C (p.Phe56Leu) | |
11 | g.44107839T>G | CA380179672 | EXT2 | c.127T>G (p.Phe43Val) n.286T>G c.-544+11987T>G (n.-544+11987T>G) n.301T>G n.544T>G n.2688T>G c.226T>G (p.Phe76Val) c.265T>G (p.Phe89Val) c.166T>G (p.Phe56Val) | |
11 | g.44107840T>A | CA380179677 | EXT2 | c.128T>A (p.Phe43Tyr) n.287T>A c.-544+11988T>A (n.-544+11988T>A) n.302T>A n.545T>A n.2689T>A c.227T>A (p.Phe76Tyr) c.266T>A (p.Phe89Tyr) c.167T>A (p.Phe56Tyr) | |
11 | g.44107840T>C | CA380179675 | EXT2 | c.128T>C (p.Phe43Ser) n.287T>C c.-544+11988T>C (n.-544+11988T>C) n.302T>C n.545T>C n.2689T>C c.227T>C (p.Phe76Ser) c.266T>C (p.Phe89Ser) c.167T>C (p.Phe56Ser) | |
11 | g.44107840T>G | CA380179676 | EXT2 | c.128T>G (p.Phe43Cys) n.287T>G c.-544+11988T>G (n.-544+11988T>G) n.302T>G n.545T>G n.2689T>G c.227T>G (p.Phe76Cys) c.266T>G (p.Phe89Cys) c.167T>G (p.Phe56Cys) | |
11 | g.44107841T>A | CA380179678 | EXT2 | c.129T>A (p.Phe43Leu) n.288T>A c.-544+11989T>A (n.-544+11989T>A) n.303T>A n.546T>A n.2690T>A c.228T>A (p.Phe76Leu) c.267T>A (p.Phe89Leu) c.168T>A (p.Phe56Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107841T>C | CA474034995 | EXT2 | c.129T>C (p.Phe43=) n.288T>C c.-544+11989T>C (n.-544+11989T>C) n.303T>C n.546T>C n.2690T>C c.228T>C (p.Phe76=) c.267T>C (p.Phe89=) c.168T>C (p.Phe56=) | |
11 | g.44107841T>G | CA380179679 | EXT2 | c.129T>G (p.Phe43Leu) n.288T>G c.-544+11989T>G (n.-544+11989T>G) n.303T>G n.546T>G n.2690T>G c.228T>G (p.Phe76Leu) c.267T>G (p.Phe89Leu) c.168T>G (p.Phe56Leu) | |
11 | g.44107841T= | CA1967875339 | EXT2 | c.129T= (p.Phe43=) n.288T= c.-544+11989T= (n.-544+11989T=) n.303T= n.546T= n.2690T= c.228T= (p.Phe76=) c.267T= (p.Phe89=) c.168T= (p.Phe56=) | |
11 | g.44107841_44107842delinsGT | CA1139661913 | EXT2 | c.129_130delinsGT (p.Phe43LeufsTer2) n.288_289delinsGT c.-544+11989_-544+11990delinsGT (n.-544+11989_-544+11990delinsGT) n.303_304delinsGT n.546_547delinsGT n.2690_2691delinsGT c.228_229delinsGT (p.Phe76LeufsTer2) c.267_268delinsGT (p.Phe89LeufsTer2) c.168_169delinsGT (p.Phe56LeufsTer2) | ClinVar dbSNP |
11 | g.44107841_44107842delinsTC | CA1967875337 | EXT2 | c.129_130delinsTC (p.Phe43=) n.288_289delinsTC c.-544+11989_-544+11990delinsTC (n.-544+11989_-544+11990delinsTC) n.303_304delinsTC n.546_547delinsTC n.2690_2691delinsTC c.228_229delinsTC (p.Phe76=) c.267_268delinsTC (p.Phe89=) c.168_169delinsTC (p.Phe56=) | |
11 | g.44107842C>A | CA380179680 | EXT2 | c.130C>A (p.Gln44Lys) n.289C>A c.-544+11990C>A (n.-544+11990C>A) n.304C>A n.547C>A n.2691C>A c.229C>A (p.Gln77Lys) c.268C>A (p.Gln90Lys) c.169C>A (p.Gln57Lys) | |
11 | g.44107842C>G | CA380179681 | EXT2 | c.130C>G (p.Gln44Glu) n.289C>G c.-544+11990C>G (n.-544+11990C>G) n.304C>G n.547C>G n.2691C>G c.229C>G (p.Gln77Glu) c.268C>G (p.Gln90Glu) c.169C>G (p.Gln57Glu) | dbSNP |
11 | g.44107842C>T | CA380179682 | EXT2 | c.130C>T (p.Gln44Ter) n.289C>T c.-544+11990C>T (n.-544+11990C>T) n.304C>T n.547C>T n.2691C>T c.229C>T (p.Gln77Ter) c.268C>T (p.Gln90Ter) c.169C>T (p.Gln57Ter) | |
11 | g.44107843A>C | CA380179683 | EXT2 | c.131A>C (p.Gln44Pro) n.290A>C c.-544+11991A>C (n.-544+11991A>C) n.305A>C n.548A>C n.2692A>C c.230A>C (p.Gln77Pro) c.269A>C (p.Gln90Pro) c.170A>C (p.Gln57Pro) | |
11 | g.44107843A>G | CA380179684 | EXT2 | c.131A>G (p.Gln44Arg) n.290A>G c.-544+11991A>G (n.-544+11991A>G) n.305A>G n.548A>G n.2692A>G c.230A>G (p.Gln77Arg) c.269A>G (p.Gln90Arg) c.170A>G (p.Gln57Arg) | |
11 | g.44107843A>T | CA380179685 | EXT2 | c.131A>T (p.Gln44Leu) n.290A>T c.-544+11991A>T (n.-544+11991A>T) n.305A>T n.548A>T n.2692A>T c.230A>T (p.Gln77Leu) c.269A>T (p.Gln90Leu) c.170A>T (p.Gln57Leu) | |
11 | g.44107844G>A | CA221452814 | EXT2 | c.132G>A (p.Gln44=) n.291G>A c.-544+11992G>A (n.-544+11992G>A) n.306G>A n.549G>A n.2693G>A c.231G>A (p.Gln77=) c.270G>A (p.Gln90=) c.171G>A (p.Gln57=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107844G>C | CA380179686 | EXT2 | c.132G>C (p.Gln44His) n.291G>C c.-544+11992G>C (n.-544+11992G>C) n.306G>C n.549G>C n.2693G>C c.231G>C (p.Gln77His) c.270G>C (p.Gln90His) c.171G>C (p.Gln57His) | dbSNP |
11 | g.44107844G= | CA1967875342 | EXT2 | c.132G= (p.Gln44=) n.291G= c.-544+11992G= (n.-544+11992G=) n.306G= n.549G= n.2693G= c.231G= (p.Gln77=) c.270G= (p.Gln90=) c.171G= (p.Gln57=) | |
11 | g.44107844G>T | CA380179687 | EXT2 | c.132G>T (p.Gln44His) n.291G>T c.-544+11992G>T (n.-544+11992G>T) n.306G>T n.549G>T n.2693G>T c.231G>T (p.Gln77His) c.270G>T (p.Gln90His) c.171G>T (p.Gln57His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107845T>A | CA380179690 | EXT2 | c.133T>A (p.Phe45Ile) n.292T>A c.-544+11993T>A (n.-544+11993T>A) n.307T>A n.550T>A n.2694T>A c.232T>A (p.Phe78Ile) c.271T>A (p.Phe91Ile) c.172T>A (p.Phe58Ile) | |
11 | g.44107845T>C | CA380179689 | EXT2 | c.133T>C (p.Phe45Leu) n.292T>C c.-544+11993T>C (n.-544+11993T>C) n.307T>C n.550T>C n.2694T>C c.232T>C (p.Phe78Leu) c.271T>C (p.Phe91Leu) c.172T>C (p.Phe58Leu) | |
11 | g.44107845T>G | CA380179688 | EXT2 | c.133T>G (p.Phe45Val) n.292T>G c.-544+11993T>G (n.-544+11993T>G) n.307T>G n.550T>G n.2694T>G c.232T>G (p.Phe78Val) c.271T>G (p.Phe91Val) c.172T>G (p.Phe58Val) | |
11 | g.44107846T>A | CA380179691 | EXT2 | c.134T>A (p.Phe45Tyr) n.293T>A c.-544+11994T>A (n.-544+11994T>A) n.308T>A n.551T>A n.2695T>A c.233T>A (p.Phe78Tyr) c.272T>A (p.Phe91Tyr) c.173T>A (p.Phe58Tyr) | |
11 | g.44107846T>C | CA380179692 | EXT2 | c.134T>C (p.Phe45Ser) n.293T>C c.-544+11994T>C (n.-544+11994T>C) n.308T>C n.551T>C n.2695T>C c.233T>C (p.Phe78Ser) c.272T>C (p.Phe91Ser) c.173T>C (p.Phe58Ser) | |
11 | g.44107846T>G | CA380179693 | EXT2 | c.134T>G (p.Phe45Cys) n.293T>G c.-544+11994T>G (n.-544+11994T>G) n.308T>G n.551T>G n.2695T>G c.233T>G (p.Phe78Cys) c.272T>G (p.Phe91Cys) c.173T>G (p.Phe58Cys) | |
11 | g.44107847T>A | CA380179694 | EXT2 | c.135T>A (p.Phe45Leu) n.294T>A c.-544+11995T>A (n.-544+11995T>A) n.309T>A n.552T>A n.2696T>A c.234T>A (p.Phe78Leu) c.273T>A (p.Phe91Leu) c.174T>A (p.Phe58Leu) | |
11 | g.44107847T>C | CA474034996 | EXT2 | c.135T>C (p.Phe45=) n.294T>C c.-544+11995T>C (n.-544+11995T>C) n.309T>C n.552T>C n.2696T>C c.234T>C (p.Phe78=) c.273T>C (p.Phe91=) c.174T>C (p.Phe58=) | |
11 | g.44107847T>G | CA380179695 | EXT2 | c.135T>G (p.Phe45Leu) n.294T>G c.-544+11995T>G (n.-544+11995T>G) n.309T>G n.552T>G n.2696T>G c.234T>G (p.Phe78Leu) c.273T>G (p.Phe91Leu) c.174T>G (p.Phe58Leu) | |
11 | g.44107848T>A | CA380179696 | EXT2 | c.136T>A (p.Trp46Arg) n.295T>A c.-544+11996T>A (n.-544+11996T>A) n.310T>A n.553T>A n.2697T>A c.235T>A (p.Trp79Arg) c.274T>A (p.Trp92Arg) c.175T>A (p.Trp59Arg) | |
11 | g.44107848T>C | CA380179697 | EXT2 | c.136T>C (p.Trp46Arg) n.295T>C c.-544+11996T>C (n.-544+11996T>C) n.310T>C n.553T>C n.2697T>C c.235T>C (p.Trp79Arg) c.274T>C (p.Trp92Arg) c.175T>C (p.Trp59Arg) | |
11 | g.44107848T>G | CA380179698 | EXT2 | c.136T>G (p.Trp46Gly) n.295T>G c.-544+11996T>G (n.-544+11996T>G) n.310T>G n.553T>G n.2697T>G c.235T>G (p.Trp79Gly) c.274T>G (p.Trp92Gly) c.175T>G (p.Trp59Gly) | |
11 | g.44107849G>A | CA380179699 | EXT2 | c.137G>A (p.Trp46Ter) n.296G>A c.-544+11997G>A (n.-544+11997G>A) n.311G>A n.554G>A n.2698G>A c.236G>A (p.Trp79Ter) c.275G>A (p.Trp92Ter) c.176G>A (p.Trp59Ter) | |
11 | g.44107849G>C | CA380179700 | EXT2 | c.137G>C (p.Trp46Ser) n.296G>C c.-544+11997G>C (n.-544+11997G>C) n.311G>C n.554G>C n.2698G>C c.236G>C (p.Trp79Ser) c.275G>C (p.Trp92Ser) c.176G>C (p.Trp59Ser) | dbSNP |
11 | g.44107849G>T | CA380179701 | EXT2 | c.137G>T (p.Trp46Leu) n.296G>T c.-544+11997G>T (n.-544+11997G>T) n.311G>T n.554G>T n.2698G>T c.236G>T (p.Trp79Leu) c.275G>T (p.Trp92Leu) c.176G>T (p.Trp59Leu) | |
11 | g.44107850G>A | CA221452822 | EXT2 | c.138G>A (p.Trp46Ter) n.297G>A c.-544+11998G>A (n.-544+11998G>A) n.312G>A n.555G>A n.2699G>A c.237G>A (p.Trp79Ter) c.276G>A (p.Trp92Ter) c.177G>A (p.Trp59Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107850G>C | CA380179702 | EXT2 | c.138G>C (p.Trp46Cys) n.297G>C c.-544+11998G>C (n.-544+11998G>C) n.312G>C n.555G>C n.2699G>C c.237G>C (p.Trp79Cys) c.276G>C (p.Trp92Cys) c.177G>C (p.Trp59Cys) | dbSNP |
11 | g.44107850G= | CA1967875346 | EXT2 | c.138G= (p.Trp46=) n.297G= c.-544+11998G= (n.-544+11998G=) n.312G= n.555G= n.2699G= c.237G= (p.Trp79=) c.276G= (p.Trp92=) c.177G= (p.Trp59=) | |
11 | g.44107850G>T | CA380179703 | EXT2 | c.138G>T (p.Trp46Cys) n.297G>T c.-544+11998G>T (n.-544+11998G>T) n.312G>T n.555G>T n.2699G>T c.237G>T (p.Trp79Cys) c.276G>T (p.Trp92Cys) c.177G>T (p.Trp59Cys) | dbSNP |
11 | g.44107851C>A | CA380179705 | EXT2 | c.139C>A (p.Pro47Thr) n.298C>A c.-544+11999C>A (n.-544+11999C>A) n.313C>A n.556C>A n.2700C>A c.238C>A (p.Pro80Thr) c.277C>A (p.Pro93Thr) c.178C>A (p.Pro60Thr) | dbSNP |
11 | g.44107851C>G | CA380179706 | EXT2 | c.139C>G (p.Pro47Ala) n.298C>G c.-544+11999C>G (n.-544+11999C>G) n.313C>G n.556C>G n.2700C>G c.238C>G (p.Pro80Ala) c.277C>G (p.Pro93Ala) c.178C>G (p.Pro60Ala) | |
11 | g.44107851C>T | CA380179704 | EXT2 | c.139C>T (p.Pro47Ser) n.298C>T c.-544+11999C>T (n.-544+11999C>T) n.313C>T n.556C>T n.2700C>T c.238C>T (p.Pro80Ser) c.277C>T (p.Pro93Ser) c.178C>T (p.Pro60Ser) | dbSNP |
11 | g.44107852C>A | CA380179707 | EXT2 | c.140C>A (p.Pro47His) n.299C>A c.-544+12000C>A (n.-544+12000C>A) n.314C>A n.557C>A n.2701C>A c.239C>A (p.Pro80His) c.278C>A (p.Pro93His) c.179C>A (p.Pro60His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107852C= | CA1967875350 | EXT2 | c.140C= (p.Pro47=) n.299C= c.-544+12000C= (n.-544+12000C=) n.314C= n.557C= n.2701C= c.239C= (p.Pro80=) c.278C= (p.Pro93=) c.179C= (p.Pro60=) | |
11 | g.44107852C>G | CA380179708 | EXT2 | c.140C>G (p.Pro47Arg) n.299C>G c.-544+12000C>G (n.-544+12000C>G) n.314C>G n.557C>G n.2701C>G c.239C>G (p.Pro80Arg) c.278C>G (p.Pro93Arg) c.179C>G (p.Pro60Arg) | |
11 | g.44107852C>T | CA380179709 | EXT2 | c.140C>T (p.Pro47Leu) n.299C>T c.-544+12000C>T (n.-544+12000C>T) n.314C>T n.557C>T n.2701C>T c.239C>T (p.Pro80Leu) c.278C>T (p.Pro93Leu) c.179C>T (p.Pro60Leu) | ClinVar |
11 | g.44107853C>A | CA474034997 | EXT2 | c.141C>A (p.Pro47=) n.300C>A c.-544+12001C>A (n.-544+12001C>A) n.315C>A n.558C>A n.2702C>A c.240C>A (p.Pro80=) c.279C>A (p.Pro93=) c.180C>A (p.Pro60=) | |
11 | g.44107853C>G | CA474034998 | EXT2 | c.141C>G (p.Pro47=) n.300C>G c.-544+12001C>G (n.-544+12001C>G) n.315C>G n.558C>G n.2702C>G c.240C>G (p.Pro80=) c.279C>G (p.Pro93=) c.180C>G (p.Pro60=) | |
11 | g.44107853C>T | CA474034999 | EXT2 | c.141C>T (p.Pro47=) n.300C>T c.-544+12001C>T (n.-544+12001C>T) n.315C>T n.558C>T n.2702C>T c.240C>T (p.Pro80=) c.279C>T (p.Pro93=) c.180C>T (p.Pro60=) | COSMIC COSMIC |
11 | g.44107854C>A | CA380179710 | EXT2 | c.142C>A (p.His48Asn) n.301C>A c.-544+12002C>A (n.-544+12002C>A) n.316C>A n.559C>A n.2703C>A c.241C>A (p.His81Asn) c.280C>A (p.His94Asn) c.181C>A (p.His61Asn) | |
11 | g.44107854C= | CA1967875354 | EXT2 | c.142C= (p.His48=) n.301C= c.-544+12002C= (n.-544+12002C=) n.316C= n.559C= n.2703C= c.241C= (p.His81=) c.280C= (p.His94=) c.181C= (p.His61=) | |
11 | g.44107854C>G | CA380179711 | EXT2 | c.142C>G (p.His48Asp) n.301C>G c.-544+12002C>G (n.-544+12002C>G) n.316C>G n.559C>G n.2703C>G c.241C>G (p.His81Asp) c.280C>G (p.His94Asp) c.181C>G (p.His61Asp) | |
11 | g.44107854C>T | CA380179712 | EXT2 | c.142C>T (p.His48Tyr) n.301C>T c.-544+12002C>T (n.-544+12002C>T) n.316C>T n.559C>T n.2703C>T c.241C>T (p.His81Tyr) c.280C>T (p.His94Tyr) c.181C>T (p.His61Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107855A= | CA1967875363 | EXT2 | c.143A= (p.His48=) n.302A= c.-544+12003A= (n.-544+12003A=) n.317A= n.560A= n.2704A= c.242A= (p.His81=) c.281A= (p.His94=) c.182A= (p.His61=) | |
11 | g.44107855A>C | CA380179713 | EXT2 | c.143A>C (p.His48Pro) n.302A>C c.-544+12003A>C (n.-544+12003A>C) n.317A>C n.560A>C n.2704A>C c.242A>C (p.His81Pro) c.281A>C (p.His94Pro) c.182A>C (p.His61Pro) | |
11 | g.44107855A>G | CA380179714 | EXT2 | c.143A>G (p.His48Arg) n.302A>G c.-544+12003A>G (n.-544+12003A>G) n.317A>G n.560A>G n.2704A>G c.242A>G (p.His81Arg) c.281A>G (p.His94Arg) c.182A>G (p.His61Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.44107855A>T | CA380179715 | EXT2 | c.143A>T (p.His48Leu) n.302A>T c.-544+12003A>T (n.-544+12003A>T) n.317A>T n.560A>T n.2704A>T c.242A>T (p.His81Leu) c.281A>T (p.His94Leu) c.182A>T (p.His61Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.44107856T>A | CA380179716 | EXT2 | c.144T>A (p.His48Gln) n.303T>A c.-544+12004T>A (n.-544+12004T>A) n.318T>A n.561T>A n.2705T>A c.243T>A (p.His81Gln) c.282T>A (p.His94Gln) c.183T>A (p.His61Gln) | |
11 | g.44107856T>C | CA474035000 | EXT2 | c.144T>C (p.His48=) n.303T>C c.-544+12004T>C (n.-544+12004T>C) n.318T>C n.561T>C n.2705T>C c.243T>C (p.His81=) c.282T>C (p.His94=) c.183T>C (p.His61=) | |
11 | g.44107856T>G | CA380179717 | EXT2 | c.144T>G (p.His48Gln) n.303T>G c.-544+12004T>G (n.-544+12004T>G) n.318T>G n.561T>G n.2705T>G c.243T>G (p.His81Gln) c.282T>G (p.His94Gln) c.183T>G (p.His61Gln) | |
11 | g.44107857T>A | CA380179720 | EXT2 | c.145T>A (p.Ser49Thr) n.304T>A c.-544+12005T>A (n.-544+12005T>A) n.319T>A n.562T>A n.2706T>A c.244T>A (p.Ser82Thr) c.283T>A (p.Ser95Thr) c.184T>A (p.Ser62Thr) | |
11 | g.44107857T>C | CA380179719 | EXT2 | c.145T>C (p.Ser49Pro) n.304T>C c.-544+12005T>C (n.-544+12005T>C) n.319T>C n.562T>C n.2706T>C c.244T>C (p.Ser82Pro) c.283T>C (p.Ser95Pro) c.184T>C (p.Ser62Pro) | |
11 | g.44107857T>G | CA380179718 | EXT2 | c.145T>G (p.Ser49Ala) n.304T>G c.-544+12005T>G (n.-544+12005T>G) n.319T>G n.562T>G n.2706T>G c.244T>G (p.Ser82Ala) c.283T>G (p.Ser95Ala) c.184T>G (p.Ser62Ala) | |
11 | g.44107858C>A | CA380179721 | EXT2 | c.146C>A (p.Ser49Tyr) n.305C>A c.-544+12006C>A (n.-544+12006C>A) n.320C>A n.563C>A n.2707C>A c.245C>A (p.Ser82Tyr) c.284C>A (p.Ser95Tyr) c.185C>A (p.Ser62Tyr) | |
11 | g.44107858C>G | CA380179722 | EXT2 | c.146C>G (p.Ser49Cys) n.305C>G c.-544+12006C>G (n.-544+12006C>G) n.320C>G n.563C>G n.2707C>G c.245C>G (p.Ser82Cys) c.284C>G (p.Ser95Cys) c.185C>G (p.Ser62Cys) | |
11 | g.44107858C>T | CA380179723 | EXT2 | c.146C>T (p.Ser49Phe) n.305C>T c.-544+12006C>T (n.-544+12006C>T) n.320C>T n.563C>T n.2707C>T c.245C>T (p.Ser82Phe) c.284C>T (p.Ser95Phe) c.185C>T (p.Ser62Phe) | dbSNP |
11 | g.44107859T>A | CA474035001 | EXT2 | c.147T>A (p.Ser49=) n.306T>A c.-544+12007T>A (n.-544+12007T>A) n.321T>A n.564T>A n.2708T>A c.246T>A (p.Ser82=) c.285T>A (p.Ser95=) c.186T>A (p.Ser62=) | |
11 | g.44107859T>C | CA474035002 | EXT2 | c.147T>C (p.Ser49=) n.306T>C c.-544+12007T>C (n.-544+12007T>C) n.321T>C n.564T>C n.2708T>C c.246T>C (p.Ser82=) c.285T>C (p.Ser95=) c.186T>C (p.Ser62=) | |
11 | g.44107859T>G | CA5954821 | EXT2 | c.147T>G (p.Ser49=) n.306T>G c.-544+12007T>G (n.-544+12007T>G) n.321T>G n.564T>G n.2708T>G c.246T>G (p.Ser82=) c.285T>G (p.Ser95=) c.186T>G (p.Ser62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.44107859T= | CA1967875367 | EXT2 | c.147T= (p.Ser49=) n.306T= c.-544+12007T= (n.-544+12007T=) n.321T= n.564T= n.2708T= c.246T= (p.Ser82=) c.285T= (p.Ser95=) c.186T= (p.Ser62=) | |
11 | g.44107860A>C | CA380179724 | EXT2 | c.148A>C (p.Ile50Leu) n.307A>C c.-544+12008A>C (n.-544+12008A>C) n.322A>C n.565A>C n.2709A>C c.247A>C (p.Ile83Leu) c.286A>C (p.Ile96Leu) c.187A>C (p.Ile63Leu) | |
11 | g.44107860A>G | CA380179725 | EXT2 | c.148A>G (p.Ile50Val) n.307A>G c.-544+12008A>G (n.-544+12008A>G) n.322A>G n.565A>G n.2709A>G c.247A>G (p.Ile83Val) c.286A>G (p.Ile96Val) c.187A>G (p.Ile63Val) | ClinVar gnomAD v4 |
11 | g.44107860A>T | CA380179726 | EXT2 | c.148A>T (p.Ile50Phe) n.307A>T c.-544+12008A>T (n.-544+12008A>T) n.322A>T n.565A>T n.2709A>T c.247A>T (p.Ile83Phe) c.286A>T (p.Ile96Phe) c.187A>T (p.Ile63Phe) | |
11 | g.44107861T>A | CA380179727 | EXT2 | c.149T>A (p.Ile50Asn) n.308T>A c.-544+12009T>A (n.-544+12009T>A) n.323T>A n.566T>A n.2710T>A c.248T>A (p.Ile83Asn) c.287T>A (p.Ile96Asn) c.188T>A (p.Ile63Asn) | |
11 | g.44107861T>C | CA380179728 | EXT2 | c.149T>C (p.Ile50Thr) n.308T>C c.-544+12009T>C (n.-544+12009T>C) n.323T>C n.566T>C n.2710T>C c.248T>C (p.Ile83Thr) c.287T>C (p.Ile96Thr) c.188T>C (p.Ile63Thr) | dbSNP |
11 | g.44107861T>G | CA380179729 | EXT2 | c.149T>G (p.Ile50Ser) n.308T>G c.-544+12009T>G (n.-544+12009T>G) n.323T>G n.566T>G n.2710T>G c.248T>G (p.Ile83Ser) c.287T>G (p.Ile96Ser) c.188T>G (p.Ile63Ser) | |
11 | g.44107861T= | CA1967875370 | EXT2 | c.149T= (p.Ile50=) n.308T= c.-544+12009T= (n.-544+12009T=) n.323T= n.566T= n.2710T= c.248T= (p.Ile83=) c.287T= (p.Ile96=) c.188T= (p.Ile63=) | |
11 | g.44107861_44107862insA | CA2695213764 | EXT2 | c.149_150insA (p.Glu51ArgfsTer5) n.308_309insA c.-544+12009_-544+12010insA (n.-544+12009_-544+12010insA) n.323_324insA n.566_567insA n.2710_2711insA c.248_249insA (p.Glu84ArgfsTer5) c.287_288insA (p.Glu97ArgfsTer5) c.188_189insA (p.Glu64ArgfsTer5) | |
11 | g.44107862C>A | CA474035003 | EXT2 | c.150C>A (p.Ile50=) n.309C>A c.-544+12010C>A (n.-544+12010C>A) n.324C>A n.567C>A n.2711C>A c.249C>A (p.Ile83=) c.288C>A (p.Ile96=) c.189C>A (p.Ile63=) | dbSNP |
11 | g.44107862C= | CA1967875375 | EXT2 | c.150C= (p.Ile50=) n.309C= c.-544+12010C= (n.-544+12010C=) n.324C= n.567C= n.2711C= c.249C= (p.Ile83=) c.288C= (p.Ile96=) c.189C= (p.Ile63=) | |
11 | g.44107862C>G | CA5954823 | EXT2 | c.150C>G (p.Ile50Met) n.309C>G c.-544+12010C>G (n.-544+12010C>G) n.324C>G n.567C>G n.2711C>G c.249C>G (p.Ile83Met) c.288C>G (p.Ile96Met) c.189C>G (p.Ile63Met) | dbSNP ExAC gnomAD v2 |
11 | g.44107862C>T | CA5954822 | EXT2 | c.150C>T (p.Ile50=) n.309C>T c.-544+12010C>T (n.-544+12010C>T) n.324C>T n.567C>T n.2711C>T c.249C>T (p.Ile83=) c.288C>T (p.Ile96=) c.189C>T (p.Ile63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107863G>A | CA5954824 | EXT2 | c.151G>A (p.Glu51Lys) n.310G>A c.-544+12011G>A (n.-544+12011G>A) n.325G>A n.568G>A n.2712G>A c.250G>A (p.Glu84Lys) c.289G>A (p.Glu97Lys) c.190G>A (p.Glu64Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.44107863G>C | CA380179731 | EXT2 | c.151G>C (p.Glu51Gln) n.310G>C c.-544+12011G>C (n.-544+12011G>C) n.325G>C n.568G>C n.2712G>C c.250G>C (p.Glu84Gln) c.289G>C (p.Glu97Gln) c.190G>C (p.Glu64Gln) | dbSNP |
11 | g.44107863G= | CA1967875385 | EXT2 | c.151G= (p.Glu51=) n.310G= c.-544+12011G= (n.-544+12011G=) n.325G= n.568G= n.2712G= c.250G= (p.Glu84=) c.289G= (p.Glu97=) c.190G= (p.Glu64=) | |
11 | g.44107863G>T | CA380179730 | EXT2 | c.151G>T (p.Glu51Ter) n.310G>T c.-544+12011G>T (n.-544+12011G>T) n.325G>T n.568G>T n.2712G>T c.250G>T (p.Glu84Ter) c.289G>T (p.Glu97Ter) c.190G>T (p.Glu64Ter) | COSMIC COSMIC |
11 | g.44107864A>C | CA380179732 | EXT2 | c.152A>C (p.Glu51Ala) n.311A>C c.-544+12012A>C (n.-544+12012A>C) n.326A>C n.569A>C n.2713A>C c.251A>C (p.Glu84Ala) c.290A>C (p.Glu97Ala) c.191A>C (p.Glu64Ala) | |
11 | g.44107864A>G | CA380179734 | EXT2 | c.152A>G (p.Glu51Gly) n.311A>G c.-544+12012A>G (n.-544+12012A>G) n.326A>G n.569A>G n.2713A>G c.251A>G (p.Glu84Gly) c.290A>G (p.Glu97Gly) c.191A>G (p.Glu64Gly) | |
11 | g.44107864A>T | CA380179733 | EXT2 | c.152A>T (p.Glu51Val) n.311A>T c.-544+12012A>T (n.-544+12012A>T) n.326A>T n.569A>T n.2713A>T c.251A>T (p.Glu84Val) c.290A>T (p.Glu97Val) c.191A>T (p.Glu64Val) | dbSNP gnomAD v4 |
11 | g.44107865G>A | CA474035004 | EXT2 | c.153G>A (p.Glu51=) n.312G>A c.-544+12013G>A (n.-544+12013G>A) n.327G>A n.570G>A n.2714G>A c.252G>A (p.Glu84=) c.291G>A (p.Glu97=) c.192G>A (p.Glu64=) | dbSNP |
11 | g.44107865G>C | CA380179735 | EXT2 | c.153G>C (p.Glu51Asp) n.312G>C c.-544+12013G>C (n.-544+12013G>C) n.327G>C n.570G>C n.2714G>C c.252G>C (p.Glu84Asp) c.291G>C (p.Glu97Asp) c.192G>C (p.Glu64Asp) | |
11 | g.44107865G>T | CA380179736 | EXT2 | c.153G>T (p.Glu51Asp) n.312G>T c.-544+12013G>T (n.-544+12013G>T) n.327G>T n.570G>T n.2714G>T c.252G>T (p.Glu84Asp) c.291G>T (p.Glu97Asp) c.192G>T (p.Glu64Asp) | gnomAD v4 |
11 | g.44107866T>A | CA380179737 | EXT2 | c.154T>A (p.Ser52Thr) n.313T>A c.-544+12014T>A (n.-544+12014T>A) n.328T>A n.571T>A n.2715T>A c.253T>A (p.Ser85Thr) c.292T>A (p.Ser98Thr) c.193T>A (p.Ser65Thr) | dbSNP |
11 | g.44107866T>C | CA380179738 | EXT2 | c.154T>C (p.Ser52Pro) n.313T>C c.-544+12014T>C (n.-544+12014T>C) n.328T>C n.571T>C n.2715T>C c.253T>C (p.Ser85Pro) c.292T>C (p.Ser98Pro) c.193T>C (p.Ser65Pro) | |
11 | g.44107866T>G | CA380179739 | EXT2 | c.154T>G (p.Ser52Ala) n.313T>G c.-544+12014T>G (n.-544+12014T>G) n.328T>G n.571T>G n.2715T>G c.253T>G (p.Ser85Ala) c.292T>G (p.Ser98Ala) c.193T>G (p.Ser65Ala) | |
11 | g.44107866dup | CA658795214 | EXT2 | c.154dup (p.Ser52PhefsTer4) n.313dup c.-544+12014dup (n.-544+12014dup) n.328dup n.571dup n.2715dup c.253dup (p.Ser85PhefsTer4) c.292dup (p.Ser98PhefsTer4) c.193dup (p.Ser65PhefsTer4) | |
11 | g.44107867C>A | CA380179740 | EXT2 | c.155C>A (p.Ser52Tyr) n.314C>A c.-544+12015C>A (n.-544+12015C>A) n.329C>A n.572C>A n.2716C>A c.254C>A (p.Ser85Tyr) c.293C>A (p.Ser98Tyr) c.194C>A (p.Ser65Tyr) | |
11 | g.44107867C= | CA1967875389 | EXT2 | c.155C= (p.Ser52=) n.314C= c.-544+12015C= (n.-544+12015C=) n.329C= n.572C= n.2716C= c.254C= (p.Ser85=) c.293C= (p.Ser98=) c.194C= (p.Ser65=) | |
11 | g.44107867C>G | CA380179741 | EXT2 | c.155C>G (p.Ser52Cys) n.314C>G c.-544+12015C>G (n.-544+12015C>G) n.329C>G n.572C>G n.2716C>G c.254C>G (p.Ser85Cys) c.293C>G (p.Ser98Cys) c.194C>G (p.Ser65Cys) | |
11 | g.44107867C>T | CA380179742 | EXT2 | c.155C>T (p.Ser52Phe) n.314C>T c.-544+12015C>T (n.-544+12015C>T) n.329C>T n.572C>T n.2716C>T c.254C>T (p.Ser85Phe) c.293C>T (p.Ser98Phe) c.194C>T (p.Ser65Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107868C>A | CA474035005 | EXT2 | c.156C>A (p.Ser52=) n.315C>A c.-544+12016C>A (n.-544+12016C>A) n.330C>A n.573C>A n.2717C>A c.255C>A (p.Ser85=) c.294C>A (p.Ser98=) c.195C>A (p.Ser65=) | |
11 | g.44107868C= | CA1967875394 | EXT2 | c.156C= (p.Ser52=) n.315C= c.-544+12016C= (n.-544+12016C=) n.330C= n.573C= n.2717C= c.255C= (p.Ser85=) c.294C= (p.Ser98=) c.195C= (p.Ser65=) | |
11 | g.44107868C>G | CA5954825 | EXT2 | c.156C>G (p.Ser52=) n.315C>G c.-544+12016C>G (n.-544+12016C>G) n.330C>G n.573C>G n.2717C>G c.255C>G (p.Ser85=) c.294C>G (p.Ser98=) c.195C>G (p.Ser65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107868C>T | CA474035006 | EXT2 | c.156C>T (p.Ser52=) n.315C>T c.-544+12016C>T (n.-544+12016C>T) n.330C>T n.573C>T n.2717C>T c.255C>T (p.Ser85=) c.294C>T (p.Ser98=) c.195C>T (p.Ser65=) | dbSNP |
11 | g.44107869T>A | CA380179743 | EXT2 | c.157T>A (p.Ser53Thr) n.316T>A c.-544+12017T>A (n.-544+12017T>A) n.331T>A n.574T>A n.2718T>A c.256T>A (p.Ser86Thr) c.295T>A (p.Ser99Thr) c.196T>A (p.Ser66Thr) | |
11 | g.44107869T>C | CA221452845 | EXT2 | c.157T>C (p.Ser53Pro) n.316T>C c.-544+12017T>C (n.-544+12017T>C) n.331T>C n.574T>C n.2718T>C c.256T>C (p.Ser86Pro) c.295T>C (p.Ser99Pro) c.196T>C (p.Ser66Pro) | dbSNP gnomAD v4 |
11 | g.44107869T>G | CA380179744 | EXT2 | c.157T>G (p.Ser53Ala) n.316T>G c.-544+12017T>G (n.-544+12017T>G) n.331T>G n.574T>G n.2718T>G c.256T>G (p.Ser86Ala) c.295T>G (p.Ser99Ala) c.196T>G (p.Ser66Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44107869T= | CA1967875402 | EXT2 | c.157T= (p.Ser53=) n.316T= c.-544+12017T= (n.-544+12017T=) n.331T= n.574T= n.2718T= c.256T= (p.Ser86=) c.295T= (p.Ser99=) c.196T= (p.Ser66=) | |
11 | g.44107870C>A | CA380179746 | EXT2 | c.158C>A (p.Ser53Ter) n.317C>A c.-544+12018C>A (n.-544+12018C>A) n.332C>A n.575C>A n.2719C>A c.257C>A (p.Ser86Ter) c.296C>A (p.Ser99Ter) c.197C>A (p.Ser66Ter) | |
11 | g.44107870C= | CA1967875409 | EXT2 | c.158C= (p.Ser53=) n.317C= c.-544+12018C= (n.-544+12018C=) n.332C= n.575C= n.2719C= c.257C= (p.Ser86=) c.296C= (p.Ser99=) c.197C= (p.Ser66=) | |
11 | g.44107870C>G | CA221452846 | EXT2 | c.158C>G (p.Ser53Ter) n.317C>G c.-544+12018C>G (n.-544+12018C>G) n.332C>G n.575C>G n.2719C>G c.257C>G (p.Ser86Ter) c.296C>G (p.Ser99Ter) c.197C>G (p.Ser66Ter) | dbSNP |
11 | g.44107870C>T | CA380179745 | EXT2 | c.158C>T (p.Ser53Leu) n.317C>T c.-544+12018C>T (n.-544+12018C>T) n.332C>T n.575C>T n.2719C>T c.257C>T (p.Ser86Leu) c.296C>T (p.Ser99Leu) c.197C>T (p.Ser66Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
11 | g.44107870_44107871delinsCA | CA1967875411 | EXT2 | c.158_159delinsCA (p.Ser53=) n.317_318delinsCA c.-544+12018_-544+12019delinsCA (n.-544+12018_-544+12019delinsCA) n.332_333delinsCA n.575_576delinsCA n.2719_2720delinsCA c.257_258delinsCA (p.Ser86=) c.296_297delinsCA (p.Ser99=) c.197_198delinsCA (p.Ser66=) | |
11 | g.44107871A>C | CA474035008 | EXT2 | c.159A>C (p.Ser53=) n.318A>C c.-544+12019A>C (n.-544+12019A>C) n.333A>C n.576A>C n.2720A>C c.258A>C (p.Ser86=) c.297A>C (p.Ser99=) c.198A>C (p.Ser66=) | |
11 | g.44107871A>G | CA474035009 | EXT2 | c.159A>G (p.Ser53=) n.318A>G c.-544+12019A>G (n.-544+12019A>G) n.333A>G n.576A>G n.2720A>G c.258A>G (p.Ser86=) c.297A>G (p.Ser99=) c.198A>G (p.Ser66=) | |
11 | g.44107871A>T | CA474035007 | EXT2 | c.159A>T (p.Ser53=) n.318A>T c.-544+12019A>T (n.-544+12019A>T) n.333A>T n.576A>T n.2720A>T c.258A>T (p.Ser86=) c.297A>T (p.Ser99=) c.198A>T (p.Ser66=) | |
11 | g.44107873del | CA599370113 | EXT2 | c.161del (p.Asn54MetfsTer5) n.320del c.-544+12021del (n.-544+12021del) n.335del n.578del n.2722del c.260del (p.Asn87MetfsTer5) c.299del (p.Asn100MetfsTer5) c.200del (p.Asn67MetfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44107872A>C | CA380179747 | EXT2 | c.160A>C (p.Asn54His) n.319A>C c.-544+12020A>C (n.-544+12020A>C) n.334A>C n.577A>C n.2721A>C c.259A>C (p.Asn87His) c.298A>C (p.Asn100His) c.199A>C (p.Asn67His) | |
11 | g.44107872A>G | CA380179748 | EXT2 | c.160A>G (p.Asn54Asp) n.319A>G c.-544+12020A>G (n.-544+12020A>G) n.334A>G n.577A>G n.2721A>G c.259A>G (p.Asn87Asp) c.298A>G (p.Asn100Asp) c.199A>G (p.Asn67Asp) | |
11 | g.44107872A>T | CA380179749 | EXT2 | c.160A>T (p.Asn54Tyr) n.319A>T c.-544+12020A>T (n.-544+12020A>T) n.334A>T n.577A>T n.2721A>T c.259A>T (p.Asn87Tyr) c.298A>T (p.Asn100Tyr) c.199A>T (p.Asn67Tyr) | |
11 | g.44107873A>C | CA380179750 | EXT2 | c.161A>C (p.Asn54Thr) n.320A>C c.-544+12021A>C (n.-544+12021A>C) n.335A>C n.578A>C n.2722A>C c.260A>C (p.Asn87Thr) c.299A>C (p.Asn100Thr) c.200A>C (p.Asn67Thr) | |
11 | g.44107873A>G | CA380179751 | EXT2 | c.161A>G (p.Asn54Ser) n.320A>G c.-544+12021A>G (n.-544+12021A>G) n.335A>G n.578A>G n.2722A>G c.260A>G (p.Asn87Ser) c.299A>G (p.Asn100Ser) c.200A>G (p.Asn67Ser) | |
11 | g.44107873A>T | CA380179752 | EXT2 | c.161A>T (p.Asn54Ile) n.320A>T c.-544+12021A>T (n.-544+12021A>T) n.335A>T n.578A>T n.2722A>T c.260A>T (p.Asn87Ile) c.299A>T (p.Asn100Ile) c.200A>T (p.Asn67Ile) | |
11 | g.44107874T>A | CA380179753 | EXT2 | c.162T>A (p.Asn54Lys) n.321T>A c.-544+12022T>A (n.-544+12022T>A) n.336T>A n.579T>A n.2723T>A c.261T>A (p.Asn87Lys) c.300T>A (p.Asn100Lys) c.201T>A (p.Asn67Lys) | |
11 | g.44107874T>C | CA474035010 | EXT2 | c.162T>C (p.Asn54=) n.321T>C c.-544+12022T>C (n.-544+12022T>C) n.336T>C n.579T>C n.2723T>C c.261T>C (p.Asn87=) c.300T>C (p.Asn100=) c.201T>C (p.Asn67=) | |
11 | g.44107874T>G | CA380179754 | EXT2 | c.162T>G (p.Asn54Lys) n.321T>G c.-544+12022T>G (n.-544+12022T>G) n.336T>G n.579T>G n.2723T>G c.261T>G (p.Asn87Lys) c.300T>G (p.Asn100Lys) c.201T>G (p.Asn67Lys) | |
11 | g.44107875G>A | CA380179755 | EXT2 | c.163G>A (p.Asp55Asn) n.322G>A c.-544+12023G>A (n.-544+12023G>A) n.337G>A n.580G>A n.2724G>A c.262G>A (p.Asp88Asn) c.301G>A (p.Asp101Asn) c.202G>A (p.Asp68Asn) | |
11 | g.44107875G>C | CA380179756 | EXT2 | c.163G>C (p.Asp55His) n.322G>C c.-544+12023G>C (n.-544+12023G>C) n.337G>C n.580G>C n.2724G>C c.262G>C (p.Asp88His) c.301G>C (p.Asp101His) c.202G>C (p.Asp68His) | |
11 | g.44107875G>T | CA380179757 | EXT2 | c.163G>T (p.Asp55Tyr) n.322G>T c.-544+12023G>T (n.-544+12023G>T) n.337G>T n.580G>T n.2724G>T c.262G>T (p.Asp88Tyr) c.301G>T (p.Asp101Tyr) c.202G>T (p.Asp68Tyr) | |
11 | g.44107876A>C | CA380179760 | EXT2 | c.164A>C (p.Asp55Ala) n.323A>C c.-544+12024A>C (n.-544+12024A>C) n.338A>C n.581A>C n.2725A>C c.263A>C (p.Asp88Ala) c.302A>C (p.Asp101Ala) c.203A>C (p.Asp68Ala) | |
11 | g.44107876A>G | CA380179759 | EXT2 | c.164A>G (p.Asp55Gly) n.323A>G c.-544+12024A>G (n.-544+12024A>G) n.338A>G n.581A>G n.2725A>G c.263A>G (p.Asp88Gly) c.302A>G (p.Asp101Gly) c.203A>G (p.Asp68Gly) | gnomAD v4 |
11 | g.44107876A>T | CA380179758 | EXT2 | c.164A>T (p.Asp55Val) n.323A>T c.-544+12024A>T (n.-544+12024A>T) n.338A>T n.581A>T n.2725A>T c.263A>T (p.Asp88Val) c.302A>T (p.Asp101Val) c.203A>T (p.Asp68Val) | |
11 | g.44107877C>A | CA380179761 | EXT2 | c.165C>A (p.Asp55Glu) n.324C>A c.-544+12025C>A (n.-544+12025C>A) n.339C>A n.582C>A n.2726C>A c.264C>A (p.Asp88Glu) c.303C>A (p.Asp101Glu) c.204C>A (p.Asp68Glu) | |
11 | g.44107877C>G | CA380179762 | EXT2 | c.165C>G (p.Asp55Glu) n.324C>G c.-544+12025C>G (n.-544+12025C>G) n.339C>G n.582C>G n.2726C>G c.264C>G (p.Asp88Glu) c.303C>G (p.Asp101Glu) c.204C>G (p.Asp68Glu) | |
11 | g.44107877C>T | CA474035011 | EXT2 | c.165C>T (p.Asp55=) n.324C>T c.-544+12025C>T (n.-544+12025C>T) n.339C>T n.582C>T n.2726C>T c.264C>T (p.Asp88=) c.303C>T (p.Asp101=) c.204C>T (p.Asp68=) | |
11 | g.44107878T>A | CA380179763 | EXT2 | c.166T>A (p.Trp56Arg) n.325T>A c.-544+12026T>A (n.-544+12026T>A) n.340T>A n.583T>A n.2727T>A c.265T>A (p.Trp89Arg) c.304T>A (p.Trp102Arg) c.205T>A (p.Trp69Arg) | |
11 | g.44107878T>C | CA380179764 | EXT2 | c.166T>C (p.Trp56Arg) n.325T>C c.-544+12026T>C (n.-544+12026T>C) n.340T>C n.583T>C n.2727T>C c.265T>C (p.Trp89Arg) c.304T>C (p.Trp102Arg) c.205T>C (p.Trp69Arg) | |
11 | g.44107878T>G | CA380179765 | EXT2 | c.166T>G (p.Trp56Gly) n.325T>G c.-544+12026T>G (n.-544+12026T>G) n.340T>G n.583T>G n.2727T>G c.265T>G (p.Trp89Gly) c.304T>G (p.Trp102Gly) c.205T>G (p.Trp69Gly) | |
11 | g.44107878_44107879del | CA2574803623 | EXT2 | c.166_167del (p.Trp56GlufsTer9) n.325_326del c.-544+12026_-544+12027del (n.-544+12026_-544+12027del) n.340_341del n.583_584del n.2727_2728del c.265_266del (p.Trp89GlufsTer9) c.304_305del (p.Trp102GlufsTer9) c.205_206del (p.Trp69GlufsTer9) |