| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) | |
| 11 | g.44107879G>A | CA380179768 | EXT2 | c.167G>A (p.Trp56Ter) n.326G>A c.-544+12027G>A (n.-544+12027G>A) n.341G>A n.584G>A n.2728G>A c.266G>A (p.Trp89Ter) c.305G>A (p.Trp102Ter) c.206G>A (p.Trp69Ter) | dbSNP |
| 11 | g.44107879G>C | CA380179767 | EXT2 | c.167G>C (p.Trp56Ser) n.326G>C c.-544+12027G>C (n.-544+12027G>C) n.341G>C n.584G>C n.2728G>C c.266G>C (p.Trp89Ser) c.305G>C (p.Trp102Ser) c.206G>C (p.Trp69Ser) | |
| 11 | g.44107879G>T | CA380179766 | EXT2 | c.167G>T (p.Trp56Leu) n.326G>T c.-544+12027G>T (n.-544+12027G>T) n.341G>T n.584G>T n.2728G>T c.266G>T (p.Trp89Leu) c.305G>T (p.Trp102Leu) c.206G>T (p.Trp69Leu) | |
| 11 | g.44107880G>A | CA380179769 | EXT2 | c.168G>A (p.Trp56Ter) n.327G>A c.-544+12028G>A (n.-544+12028G>A) n.342G>A n.585G>A n.2729G>A c.267G>A (p.Trp89Ter) c.306G>A (p.Trp102Ter) c.207G>A (p.Trp69Ter) | ClinVar dbSNP |
| 11 | g.44107880G>C | CA380179770 | EXT2 | c.168G>C (p.Trp56Cys) n.327G>C c.-544+12028G>C (n.-544+12028G>C) n.342G>C n.585G>C n.2729G>C c.267G>C (p.Trp89Cys) c.306G>C (p.Trp102Cys) c.207G>C (p.Trp69Cys) | |
| 11 | g.44107880G= | CA1967875416 | EXT2 | c.168G= (p.Trp56=) n.327G= c.-544+12028G= (n.-544+12028G=) n.342G= n.585G= n.2729G= c.267G= (p.Trp89=) c.306G= (p.Trp102=) c.207G= (p.Trp69=) | |
| 11 | g.44107880G>T | CA5954826 | EXT2 | c.168G>T (p.Trp56Cys) n.327G>T c.-544+12028G>T (n.-544+12028G>T) n.342G>T n.585G>T n.2729G>T c.267G>T (p.Trp89Cys) c.306G>T (p.Trp102Cys) c.207G>T (p.Trp69Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107881A= | CA1967875421 | EXT2 | c.169A= (p.Asn57=) n.328A= c.-544+12029A= (n.-544+12029A=) n.343A= n.586A= n.2730A= c.268A= (p.Asn90=) c.307A= (p.Asn103=) c.208A= (p.Asn70=) | |
| 11 | g.44107881A>C | CA380179771 | EXT2 | c.169A>C (p.Asn57His) n.328A>C c.-544+12029A>C (n.-544+12029A>C) n.343A>C n.586A>C n.2730A>C c.268A>C (p.Asn90His) c.307A>C (p.Asn103His) c.208A>C (p.Asn70His) | |
| 11 | g.44107881A>G | CA5954827 | EXT2 | c.169A>G (p.Asn57Asp) n.328A>G c.-544+12029A>G (n.-544+12029A>G) n.343A>G n.586A>G n.2730A>G c.268A>G (p.Asn90Asp) c.307A>G (p.Asn103Asp) c.208A>G (p.Asn70Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44107881A>T | CA380179772 | EXT2 | c.169A>T (p.Asn57Tyr) n.328A>T c.-544+12029A>T (n.-544+12029A>T) n.343A>T n.586A>T n.2730A>T c.268A>T (p.Asn90Tyr) c.307A>T (p.Asn103Tyr) c.208A>T (p.Asn70Tyr) | |
| 11 | g.44107882A>C | CA380179773 | EXT2 | c.170A>C (p.Asn57Thr) n.329A>C c.-544+12030A>C (n.-544+12030A>C) n.344A>C n.587A>C n.2731A>C c.269A>C (p.Asn90Thr) c.308A>C (p.Asn103Thr) c.209A>C (p.Asn70Thr) | |
| 11 | g.44107882A>G | CA380179775 | EXT2 | c.170A>G (p.Asn57Ser) n.329A>G c.-544+12030A>G (n.-544+12030A>G) n.344A>G n.587A>G n.2731A>G c.269A>G (p.Asn90Ser) c.308A>G (p.Asn103Ser) c.209A>G (p.Asn70Ser) | |
| 11 | g.44107882A>T | CA380179774 | EXT2 | c.170A>T (p.Asn57Ile) n.329A>T c.-544+12030A>T (n.-544+12030A>T) n.344A>T n.587A>T n.2731A>T c.269A>T (p.Asn90Ile) c.308A>T (p.Asn103Ile) c.209A>T (p.Asn70Ile) | |
| 11 | g.44107883T>A | CA380179776 | EXT2 | c.171T>A (p.Asn57Lys) n.330T>A c.-544+12031T>A (n.-544+12031T>A) n.345T>A n.588T>A n.2732T>A c.270T>A (p.Asn90Lys) c.309T>A (p.Asn103Lys) c.210T>A (p.Asn70Lys) | |
| 11 | g.44107883T>C | CA5954828 | EXT2 | c.171T>C (p.Asn57=) n.330T>C c.-544+12031T>C (n.-544+12031T>C) n.345T>C n.588T>C n.2732T>C c.270T>C (p.Asn90=) c.309T>C (p.Asn103=) c.210T>C (p.Asn70=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44107883T>G | CA380179777 | EXT2 | c.171T>G (p.Asn57Lys) n.330T>G c.-544+12031T>G (n.-544+12031T>G) n.345T>G n.588T>G n.2732T>G c.270T>G (p.Asn90Lys) c.309T>G (p.Asn103Lys) c.210T>G (p.Asn70Lys) | |
| 11 | g.44107883T= | CA1967875422 | EXT2 | c.171T= (p.Asn57=) n.330T= c.-544+12031T= (n.-544+12031T=) n.345T= n.588T= n.2732T= c.270T= (p.Asn90=) c.309T= (p.Asn103=) c.210T= (p.Asn70=) | |
| 11 | g.44107884G>A | CA380179778 | EXT2 | c.172G>A (p.Val58Ile) n.331G>A c.-544+12032G>A (n.-544+12032G>A) n.346G>A n.589G>A n.2733G>A c.271G>A (p.Val91Ile) c.310G>A (p.Val104Ile) c.211G>A (p.Val71Ile) | dbSNP gnomAD v4 |
| 11 | g.44107884G>C | CA380179779 | EXT2 | c.172G>C (p.Val58Leu) n.331G>C c.-544+12032G>C (n.-544+12032G>C) n.346G>C n.589G>C n.2733G>C c.271G>C (p.Val91Leu) c.310G>C (p.Val104Leu) c.211G>C (p.Val71Leu) | |
| 11 | g.44107884G>T | CA380179780 | EXT2 | c.172G>T (p.Val58Leu) n.331G>T c.-544+12032G>T (n.-544+12032G>T) n.346G>T n.589G>T n.2733G>T c.271G>T (p.Val91Leu) c.310G>T (p.Val104Leu) c.211G>T (p.Val71Leu) | |
| 11 | g.44107885del | CA2695213765 | EXT2 | c.173del (p.Val58GlufsTer?) n.332del c.-544+12033del (n.-544+12033del) n.347del n.590del n.2734del c.272del (p.Val91GlufsTer?) c.311del (p.Val104GlufsTer?) c.212del (p.Val71GlufsTer?) | |
| 11 | g.44107885T>A | CA380179781 | EXT2 | c.173T>A (p.Val58Glu) n.332T>A c.-544+12033T>A (n.-544+12033T>A) n.347T>A n.590T>A n.2734T>A c.272T>A (p.Val91Glu) c.311T>A (p.Val104Glu) c.212T>A (p.Val71Glu) | gnomAD v4 |
| 11 | g.44107885T>C | CA380179782 | EXT2 | c.173T>C (p.Val58Ala) n.332T>C c.-544+12033T>C (n.-544+12033T>C) n.347T>C n.590T>C n.2734T>C c.272T>C (p.Val91Ala) c.311T>C (p.Val104Ala) c.212T>C (p.Val71Ala) | |
| 11 | g.44107885T>G | CA380179783 | EXT2 | c.173T>G (p.Val58Gly) n.332T>G c.-544+12033T>G (n.-544+12033T>G) n.347T>G n.590T>G n.2734T>G c.272T>G (p.Val91Gly) c.311T>G (p.Val104Gly) c.212T>G (p.Val71Gly) | |
| 11 | g.44107886A= | CA1967875424 | EXT2 | c.174A= (p.Val58=) n.333A= c.-544+12034A= (n.-544+12034A=) n.348A= n.591A= n.2735A= c.273A= (p.Val91=) c.312A= (p.Val104=) c.213A= (p.Val71=) | |
| 11 | g.44107886A>C | CA474035012 | EXT2 | c.174A>C (p.Val58=) n.333A>C c.-544+12034A>C (n.-544+12034A>C) n.348A>C n.591A>C n.2735A>C c.273A>C (p.Val91=) c.312A>C (p.Val104=) c.213A>C (p.Val71=) | |
| 11 | g.44107886A>G | CA474035013 | EXT2 | c.174A>G (p.Val58=) n.333A>G c.-544+12034A>G (n.-544+12034A>G) n.348A>G n.591A>G n.2735A>G c.273A>G (p.Val91=) c.312A>G (p.Val104=) c.213A>G (p.Val71=) | gnomAD v4 |
| 11 | g.44107886A>T | CA474035014 | EXT2 | c.174A>T (p.Val58=) n.333A>T c.-544+12034A>T (n.-544+12034A>T) n.348A>T n.591A>T n.2735A>T c.273A>T (p.Val91=) c.312A>T (p.Val104=) c.213A>T (p.Val71=) | dbSNP gnomAD v4 |
| 11 | g.44107887G>A | CA380179784 | EXT2 | c.175G>A (p.Glu59Lys) n.334G>A c.-544+12035G>A (n.-544+12035G>A) n.349G>A n.592G>A n.2736G>A c.274G>A (p.Glu92Lys) c.313G>A (p.Glu105Lys) c.214G>A (p.Glu72Lys) | |
| 11 | g.44107887G>C | CA380179785 | EXT2 | c.175G>C (p.Glu59Gln) n.334G>C c.-544+12035G>C (n.-544+12035G>C) n.349G>C n.592G>C n.2736G>C c.274G>C (p.Glu92Gln) c.313G>C (p.Glu105Gln) c.214G>C (p.Glu72Gln) | dbSNP COSMIC COSMIC |
| 11 | g.44107887G>T | CA380179786 | EXT2 | c.175G>T (p.Glu59Ter) n.334G>T c.-544+12035G>T (n.-544+12035G>T) n.349G>T n.592G>T n.2736G>T c.274G>T (p.Glu92Ter) c.313G>T (p.Glu105Ter) c.214G>T (p.Glu72Ter) | |
| 11 | g.44107888A= | CA1967875427 | EXT2 | c.176A= (p.Glu59=) n.335A= c.-544+12036A= (n.-544+12036A=) n.350A= n.593A= n.2737A= c.275A= (p.Glu92=) c.314A= (p.Glu105=) c.215A= (p.Glu72=) | |
| 11 | g.44107888A>C | CA380179788 | EXT2 | c.176A>C (p.Glu59Ala) n.335A>C c.-544+12036A>C (n.-544+12036A>C) n.350A>C n.593A>C n.2737A>C c.275A>C (p.Glu92Ala) c.314A>C (p.Glu105Ala) c.215A>C (p.Glu72Ala) | |
| 11 | g.44107888A>G | CA5954829 | EXT2 | c.176A>G (p.Glu59Gly) n.335A>G c.-544+12036A>G (n.-544+12036A>G) n.350A>G n.593A>G n.2737A>G c.275A>G (p.Glu92Gly) c.314A>G (p.Glu105Gly) c.215A>G (p.Glu72Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107888A>T | CA380179787 | EXT2 | c.176A>T (p.Glu59Val) n.335A>T c.-544+12036A>T (n.-544+12036A>T) n.350A>T n.593A>T n.2737A>T c.275A>T (p.Glu92Val) c.314A>T (p.Glu105Val) c.215A>T (p.Glu72Val) | |
| 11 | g.44107889G>A | CA474035015 | EXT2 | c.177G>A (p.Glu59=) n.336G>A c.-544+12037G>A (n.-544+12037G>A) n.351G>A n.594G>A n.2738G>A c.276G>A (p.Glu92=) c.315G>A (p.Glu105=) c.216G>A (p.Glu72=) | |
| 11 | g.44107889G>C | CA380179790 | EXT2 | c.177G>C (p.Glu59Asp) n.336G>C c.-544+12037G>C (n.-544+12037G>C) n.351G>C n.594G>C n.2738G>C c.276G>C (p.Glu92Asp) c.315G>C (p.Glu105Asp) c.216G>C (p.Glu72Asp) | |
| 11 | g.44107889G>T | CA380179789 | EXT2 | c.177G>T (p.Glu59Asp) n.336G>T c.-544+12037G>T (n.-544+12037G>T) n.351G>T n.594G>T n.2738G>T c.276G>T (p.Glu92Asp) c.315G>T (p.Glu105Asp) c.216G>T (p.Glu72Asp) | |
| 11 | g.44107890A>C | CA380179792 | EXT2 | c.178A>C (p.Lys60Gln) n.337A>C c.-544+12038A>C (n.-544+12038A>C) n.352A>C n.595A>C n.2739A>C c.277A>C (p.Lys93Gln) c.316A>C (p.Lys106Gln) c.217A>C (p.Lys73Gln) | |
| 11 | g.44107890A>G | CA380179791 | EXT2 | c.178A>G (p.Lys60Glu) n.337A>G c.-544+12038A>G (n.-544+12038A>G) n.352A>G n.595A>G n.2739A>G c.277A>G (p.Lys93Glu) c.316A>G (p.Lys106Glu) c.217A>G (p.Lys73Glu) | |
| 11 | g.44107890A>T | CA380179793 | EXT2 | c.178A>T (p.Lys60Ter) n.337A>T c.-544+12038A>T (n.-544+12038A>T) n.352A>T n.595A>T n.2739A>T c.277A>T (p.Lys93Ter) c.316A>T (p.Lys106Ter) c.217A>T (p.Lys73Ter) | gnomAD v4 |
| 11 | g.44107891A>C | CA380179794 | EXT2 | c.179A>C (p.Lys60Thr) n.338A>C c.-544+12039A>C (n.-544+12039A>C) n.353A>C n.596A>C n.2740A>C c.278A>C (p.Lys93Thr) c.317A>C (p.Lys106Thr) c.218A>C (p.Lys73Thr) | |
| 11 | g.44107891A>G | CA380179795 | EXT2 | c.179A>G (p.Lys60Arg) n.338A>G c.-544+12039A>G (n.-544+12039A>G) n.353A>G n.596A>G n.2740A>G c.278A>G (p.Lys93Arg) c.317A>G (p.Lys106Arg) c.218A>G (p.Lys73Arg) | |
| 11 | g.44107891A>T | CA380179796 | EXT2 | c.179A>T (p.Lys60Met) n.338A>T c.-544+12039A>T (n.-544+12039A>T) n.353A>T n.596A>T n.2740A>T c.278A>T (p.Lys93Met) c.317A>T (p.Lys106Met) c.218A>T (p.Lys73Met) | |
| 11 | g.44107892G>A | CA5954830 | EXT2 | c.180G>A (p.Lys60=) n.339G>A c.-544+12040G>A (n.-544+12040G>A) n.354G>A n.597G>A n.2741G>A c.279G>A (p.Lys93=) c.318G>A (p.Lys106=) c.219G>A (p.Lys73=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44107892G>C | CA380179797 | EXT2 | c.180G>C (p.Lys60Asn) n.339G>C c.-544+12040G>C (n.-544+12040G>C) n.354G>C n.597G>C n.2741G>C c.279G>C (p.Lys93Asn) c.318G>C (p.Lys106Asn) c.219G>C (p.Lys73Asn) | |
| 11 | g.44107892G= | CA1967875431 | EXT2 | c.180G= (p.Lys60=) n.339G= c.-544+12040G= (n.-544+12040G=) n.354G= n.597G= n.2741G= c.279G= (p.Lys93=) c.318G= (p.Lys106=) c.219G= (p.Lys73=) | |
| 11 | g.44107892G>T | CA380179798 | EXT2 | c.180G>T (p.Lys60Asn) n.339G>T c.-544+12040G>T (n.-544+12040G>T) n.354G>T n.597G>T n.2741G>T c.279G>T (p.Lys93Asn) c.318G>T (p.Lys106Asn) c.219G>T (p.Lys73Asn) | |
| 11 | g.44107893C>A | CA380179799 | EXT2 | c.181C>A (p.Arg61Ser) n.340C>A c.-544+12041C>A (n.-544+12041C>A) n.355C>A n.598C>A n.2742C>A c.280C>A (p.Arg94Ser) c.319C>A (p.Arg107Ser) c.220C>A (p.Arg74Ser) | |
| 11 | g.44107893C= | CA1967875438 | EXT2 | c.181C= (p.Arg61=) n.340C= c.-544+12041C= (n.-544+12041C=) n.355C= n.598C= n.2742C= c.280C= (p.Arg94=) c.319C= (p.Arg107=) c.220C= (p.Arg74=) | |
| 11 | g.44107893C>G | CA380179800 | EXT2 | c.181C>G (p.Arg61Gly) n.340C>G c.-544+12041C>G (n.-544+12041C>G) n.355C>G n.598C>G n.2742C>G c.280C>G (p.Arg94Gly) c.319C>G (p.Arg107Gly) c.220C>G (p.Arg74Gly) | |
| 11 | g.44107893C>T | CA5954831 | EXT2 | c.181C>T (p.Arg61Cys) n.340C>T c.-544+12041C>T (n.-544+12041C>T) n.355C>T n.598C>T n.2742C>T c.280C>T (p.Arg94Cys) c.319C>T (p.Arg107Cys) c.220C>T (p.Arg74Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107894G>A | CA5954832 | EXT2 | c.182G>A (p.Arg61His) n.341G>A c.-544+12042G>A (n.-544+12042G>A) n.356G>A n.599G>A n.2743G>A c.281G>A (p.Arg94His) c.320G>A (p.Arg107His) c.221G>A (p.Arg74His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107894G>C | CA380179801 | EXT2 | c.182G>C (p.Arg61Pro) n.341G>C c.-544+12042G>C (n.-544+12042G>C) n.356G>C n.599G>C n.2743G>C c.281G>C (p.Arg94Pro) c.320G>C (p.Arg107Pro) c.221G>C (p.Arg74Pro) | |
| 11 | g.44107894G= | CA1967875449 | EXT2 | c.182G= (p.Arg61=) n.341G= c.-544+12042G= (n.-544+12042G=) n.356G= n.599G= n.2743G= c.281G= (p.Arg94=) c.320G= (p.Arg107=) c.221G= (p.Arg74=) | |
| 11 | g.44107894G>T | CA5954833 | EXT2 | c.182G>T (p.Arg61Leu) n.341G>T c.-544+12042G>T (n.-544+12042G>T) n.356G>T n.599G>T n.2743G>T c.281G>T (p.Arg94Leu) c.320G>T (p.Arg107Leu) c.221G>T (p.Arg74Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44107895C>A | CA474035016 | EXT2 | c.183C>A (p.Arg61=) n.342C>A c.-544+12043C>A (n.-544+12043C>A) n.357C>A n.600C>A n.2744C>A c.282C>A (p.Arg94=) c.321C>A (p.Arg107=) c.222C>A (p.Arg74=) | |
| 11 | g.44107895C>G | CA474035017 | EXT2 | c.183C>G (p.Arg61=) n.342C>G c.-544+12043C>G (n.-544+12043C>G) n.357C>G n.600C>G n.2744C>G c.282C>G (p.Arg94=) c.321C>G (p.Arg107=) c.222C>G (p.Arg74=) | dbSNP |
| 11 | g.44107895C>T | CA474035018 | EXT2 | c.183C>T (p.Arg61=) n.342C>T c.-544+12043C>T (n.-544+12043C>T) n.357C>T n.600C>T n.2744C>T c.282C>T (p.Arg94=) c.321C>T (p.Arg107=) c.222C>T (p.Arg74=) | gnomAD v4 |
| 11 | g.44107896A= | CA1967875459 | EXT2 | c.184A= (p.Ser62=) n.343A= c.-544+12044A= (n.-544+12044A=) n.358A= n.601A= n.2745A= c.283A= (p.Ser95=) c.322A= (p.Ser108=) c.223A= (p.Ser75=) | |
| 11 | g.44107896A>C | CA380179804 | EXT2 | c.184A>C (p.Ser62Arg) n.343A>C c.-544+12044A>C (n.-544+12044A>C) n.358A>C n.601A>C n.2745A>C c.283A>C (p.Ser95Arg) c.322A>C (p.Ser108Arg) c.223A>C (p.Ser75Arg) | gnomAD v4 |
| 11 | g.44107896A>G | CA380179802 | EXT2 | c.184A>G (p.Ser62Gly) n.343A>G c.-544+12044A>G (n.-544+12044A>G) n.358A>G n.601A>G n.2745A>G c.283A>G (p.Ser95Gly) c.322A>G (p.Ser108Gly) c.223A>G (p.Ser75Gly) | dbSNP gnomAD v4 |
| 11 | g.44107896A>T | CA380179803 | EXT2 | c.184A>T (p.Ser62Cys) n.343A>T c.-544+12044A>T (n.-544+12044A>T) n.358A>T n.601A>T n.2745A>T c.283A>T (p.Ser95Cys) c.322A>T (p.Ser108Cys) c.223A>T (p.Ser75Cys) | |
| 11 | g.44107897G>A | CA380179805 | EXT2 | c.185G>A (p.Ser62Asn) n.344G>A c.-544+12045G>A (n.-544+12045G>A) n.359G>A n.602G>A n.2746G>A c.284G>A (p.Ser95Asn) c.323G>A (p.Ser108Asn) c.224G>A (p.Ser75Asn) | dbSNP |
| 11 | g.44107897G>C | CA380179806 | EXT2 | c.185G>C (p.Ser62Thr) n.344G>C c.-544+12045G>C (n.-544+12045G>C) n.359G>C n.602G>C n.2746G>C c.284G>C (p.Ser95Thr) c.323G>C (p.Ser108Thr) c.224G>C (p.Ser75Thr) | |
| 11 | g.44107897G>T | CA380179807 | EXT2 | c.185G>T (p.Ser62Ile) n.344G>T c.-544+12045G>T (n.-544+12045G>T) n.359G>T n.602G>T n.2746G>T c.284G>T (p.Ser95Ile) c.323G>T (p.Ser108Ile) c.224G>T (p.Ser75Ile) | |
| 11 | g.44107898C>A | CA380179808 | EXT2 | c.186C>A (p.Ser62Arg) n.345C>A c.-544+12046C>A (n.-544+12046C>A) n.360C>A n.603C>A n.2747C>A c.285C>A (p.Ser95Arg) c.324C>A (p.Ser108Arg) c.225C>A (p.Ser75Arg) | |
| 11 | g.44107898C= | CA1967875462 | EXT2 | c.186C= (p.Ser62=) n.345C= c.-544+12046C= (n.-544+12046C=) n.360C= n.603C= n.2747C= c.285C= (p.Ser95=) c.324C= (p.Ser108=) c.225C= (p.Ser75=) | |
| 11 | g.44107898C>G | CA380179809 | EXT2 | c.186C>G (p.Ser62Arg) n.345C>G c.-544+12046C>G (n.-544+12046C>G) n.360C>G n.603C>G n.2747C>G c.285C>G (p.Ser95Arg) c.324C>G (p.Ser108Arg) c.225C>G (p.Ser75Arg) | |
| 11 | g.44107898C>T | CA5954834 | EXT2 | c.186C>T (p.Ser62=) n.345C>T c.-544+12046C>T (n.-544+12046C>T) n.360C>T n.603C>T n.2747C>T c.285C>T (p.Ser95=) c.324C>T (p.Ser108=) c.225C>T (p.Ser75=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107899A>C | CA380179810 | EXT2 | c.187A>C (p.Ile63Leu) n.346A>C c.-544+12047A>C (n.-544+12047A>C) n.361A>C n.604A>C n.2748A>C c.286A>C (p.Ile96Leu) c.325A>C (p.Ile109Leu) c.226A>C (p.Ile76Leu) | |
| 11 | g.44107899A>G | CA380179811 | EXT2 | c.187A>G (p.Ile63Val) n.346A>G c.-544+12047A>G (n.-544+12047A>G) n.361A>G n.604A>G n.2748A>G c.286A>G (p.Ile96Val) c.325A>G (p.Ile109Val) c.226A>G (p.Ile76Val) | |
| 11 | g.44107899A>T | CA380179812 | EXT2 | c.187A>T (p.Ile63Phe) n.346A>T c.-544+12047A>T (n.-544+12047A>T) n.361A>T n.604A>T n.2748A>T c.286A>T (p.Ile96Phe) c.325A>T (p.Ile109Phe) c.226A>T (p.Ile76Phe) | |
| 11 | g.44107900T>A | CA380179813 | EXT2 | c.188T>A (p.Ile63Asn) n.347T>A c.-544+12048T>A (n.-544+12048T>A) n.362T>A n.605T>A n.2749T>A c.287T>A (p.Ile96Asn) c.326T>A (p.Ile109Asn) c.227T>A (p.Ile76Asn) | |
| 11 | g.44107900T>C | CA380179814 | EXT2 | c.188T>C (p.Ile63Thr) n.347T>C c.-544+12048T>C (n.-544+12048T>C) n.362T>C n.605T>C n.2749T>C c.287T>C (p.Ile96Thr) c.326T>C (p.Ile109Thr) c.227T>C (p.Ile76Thr) | dbSNP |
| 11 | g.44107900T>G | CA380179815 | EXT2 | c.188T>G (p.Ile63Ser) n.347T>G c.-544+12048T>G (n.-544+12048T>G) n.362T>G n.605T>G n.2749T>G c.287T>G (p.Ile96Ser) c.326T>G (p.Ile109Ser) c.227T>G (p.Ile76Ser) | |
| 11 | g.44107901C>A | CA474035019 | EXT2 | c.189C>A (p.Ile63=) n.348C>A c.-544+12049C>A (n.-544+12049C>A) n.363C>A n.606C>A n.2750C>A c.288C>A (p.Ile96=) c.327C>A (p.Ile109=) c.228C>A (p.Ile76=) | |
| 11 | g.44107901C>G | CA380179816 | EXT2 | c.189C>G (p.Ile63Met) n.348C>G c.-544+12049C>G (n.-544+12049C>G) n.363C>G n.606C>G n.2750C>G c.288C>G (p.Ile96Met) c.327C>G (p.Ile109Met) c.228C>G (p.Ile76Met) | dbSNP |
| 11 | g.44107901C>T | CA474035020 | EXT2 | c.189C>T (p.Ile63=) n.348C>T c.-544+12049C>T (n.-544+12049C>T) n.363C>T n.606C>T n.2750C>T c.288C>T (p.Ile96=) c.327C>T (p.Ile109=) c.228C>T (p.Ile76=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 11 | g.44107902C>A | CA380179818 | EXT2 | c.190C>A (p.Arg64Ser) n.349C>A c.-544+12050C>A (n.-544+12050C>A) n.364C>A n.607C>A n.2751C>A c.289C>A (p.Arg97Ser) c.328C>A (p.Arg110Ser) c.229C>A (p.Arg77Ser) | |
| 11 | g.44107902C= | CA1967875465 | EXT2 | c.190C= (p.Arg64=) n.349C= c.-544+12050C= (n.-544+12050C=) n.364C= n.607C= n.2751C= c.289C= (p.Arg97=) c.328C= (p.Arg110=) c.229C= (p.Arg77=) | |
| 11 | g.44107902C>G | CA380179817 | EXT2 | c.190C>G (p.Arg64Gly) n.349C>G c.-544+12050C>G (n.-544+12050C>G) n.364C>G n.607C>G n.2751C>G c.289C>G (p.Arg97Gly) c.328C>G (p.Arg110Gly) c.229C>G (p.Arg77Gly) | gnomAD v4 |
| 11 | g.44107902C>T | CA5954835 | EXT2 | c.190C>T (p.Arg64Cys) n.349C>T c.-544+12050C>T (n.-544+12050C>T) n.364C>T n.607C>T n.2751C>T c.289C>T (p.Arg97Cys) c.328C>T (p.Arg110Cys) c.229C>T (p.Arg77Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.44107903G>A | CA5954836 | EXT2 | c.191G>A (p.Arg64His) n.350G>A c.-544+12051G>A (n.-544+12051G>A) n.365G>A n.608G>A n.2752G>A c.290G>A (p.Arg97His) c.329G>A (p.Arg110His) c.230G>A (p.Arg77His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107903G>C | CA380179819 | EXT2 | c.191G>C (p.Arg64Pro) n.350G>C c.-544+12051G>C (n.-544+12051G>C) n.365G>C n.608G>C n.2752G>C c.290G>C (p.Arg97Pro) c.329G>C (p.Arg110Pro) c.230G>C (p.Arg77Pro) | |
| 11 | g.44107903G= | CA1967875469 | EXT2 | c.191G= (p.Arg64=) n.350G= c.-544+12051G= (n.-544+12051G=) n.365G= n.608G= n.2752G= c.290G= (p.Arg97=) c.329G= (p.Arg110=) c.230G= (p.Arg77=) | |
| 11 | g.44107903G>T | CA380179820 | EXT2 | c.191G>T (p.Arg64Leu) n.350G>T c.-544+12051G>T (n.-544+12051G>T) n.365G>T n.608G>T n.2752G>T c.290G>T (p.Arg97Leu) c.329G>T (p.Arg110Leu) c.230G>T (p.Arg77Leu) | |
| 11 | g.44107904T>A | CA474035021 | EXT2 | c.192T>A (p.Arg64=) n.351T>A c.-544+12052T>A (n.-544+12052T>A) n.366T>A n.609T>A n.2753T>A c.291T>A (p.Arg97=) c.330T>A (p.Arg110=) c.231T>A (p.Arg77=) | |
| 11 | g.44107904T>C | CA474035022 | EXT2 | c.192T>C (p.Arg64=) n.351T>C c.-544+12052T>C (n.-544+12052T>C) n.366T>C n.609T>C n.2753T>C c.291T>C (p.Arg97=) c.330T>C (p.Arg110=) c.231T>C (p.Arg77=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.44107904T>G | CA474035023 | EXT2 | c.192T>G (p.Arg64=) n.351T>G c.-544+12052T>G (n.-544+12052T>G) n.366T>G n.609T>G n.2753T>G c.291T>G (p.Arg97=) c.330T>G (p.Arg110=) c.231T>G (p.Arg77=) | |
| 11 | g.44107905G>A | CA380179821 | EXT2 | c.193G>A (p.Asp65Asn) n.352G>A c.-544+12053G>A (n.-544+12053G>A) n.367G>A n.610G>A n.2754G>A c.292G>A (p.Asp98Asn) c.331G>A (p.Asp111Asn) c.232G>A (p.Asp78Asn) | |
| 11 | g.44107905G>C | CA380179822 | EXT2 | c.193G>C (p.Asp65His) n.352G>C c.-544+12053G>C (n.-544+12053G>C) n.367G>C n.610G>C n.2754G>C c.292G>C (p.Asp98His) c.331G>C (p.Asp111His) c.232G>C (p.Asp78His) | |
| 11 | g.44107905G>T | CA380179823 | EXT2 | c.193G>T (p.Asp65Tyr) n.352G>T c.-544+12053G>T (n.-544+12053G>T) n.367G>T n.610G>T n.2754G>T c.292G>T (p.Asp98Tyr) c.331G>T (p.Asp111Tyr) c.232G>T (p.Asp78Tyr) | |
| 11 | g.44107906A>C | CA380179824 | EXT2 | c.194A>C (p.Asp65Ala) n.353A>C c.-544+12054A>C (n.-544+12054A>C) n.368A>C n.611A>C n.2755A>C c.293A>C (p.Asp98Ala) c.332A>C (p.Asp111Ala) c.233A>C (p.Asp78Ala) | |
| 11 | g.44107906A>G | CA380179825 | EXT2 | c.194A>G (p.Asp65Gly) n.353A>G c.-544+12054A>G (n.-544+12054A>G) n.368A>G n.611A>G n.2755A>G c.293A>G (p.Asp98Gly) c.332A>G (p.Asp111Gly) c.233A>G (p.Asp78Gly) | |
| 11 | g.44107906A>T | CA380179826 | EXT2 | c.194A>T (p.Asp65Val) n.353A>T c.-544+12054A>T (n.-544+12054A>T) n.368A>T n.611A>T n.2755A>T c.293A>T (p.Asp98Val) c.332A>T (p.Asp111Val) c.233A>T (p.Asp78Val) | |
| 11 | g.44107907T>A | CA380179827 | EXT2 | c.195T>A (p.Asp65Glu) n.354T>A c.-544+12055T>A (n.-544+12055T>A) n.369T>A n.612T>A n.2756T>A c.294T>A (p.Asp98Glu) c.333T>A (p.Asp111Glu) c.234T>A (p.Asp78Glu) | |
| 11 | g.44107907T>C | CA474035024 | EXT2 | c.195T>C (p.Asp65=) n.354T>C c.-544+12055T>C (n.-544+12055T>C) n.369T>C n.612T>C n.2756T>C c.294T>C (p.Asp98=) c.333T>C (p.Asp111=) c.234T>C (p.Asp78=) | |
| 11 | g.44107907T>G | CA380179828 | EXT2 | c.195T>G (p.Asp65Glu) n.354T>G c.-544+12055T>G (n.-544+12055T>G) n.369T>G n.612T>G n.2756T>G c.294T>G (p.Asp98Glu) c.333T>G (p.Asp111Glu) c.234T>G (p.Asp78Glu) | |
| 11 | g.44107908G>A | CA380179829 | EXT2 | c.196G>A (p.Val66Met) n.355G>A c.-544+12056G>A (n.-544+12056G>A) n.370G>A n.613G>A n.2757G>A c.295G>A (p.Val99Met) c.334G>A (p.Val112Met) c.235G>A (p.Val79Met) | dbSNP gnomAD v2 |
| 11 | g.44107908G>C | CA380179831 | EXT2 | c.196G>C (p.Val66Leu) n.355G>C c.-544+12056G>C (n.-544+12056G>C) n.370G>C n.613G>C n.2757G>C c.295G>C (p.Val99Leu) c.334G>C (p.Val112Leu) c.235G>C (p.Val79Leu) | |
| 11 | g.44107908G= | CA1967875473 | EXT2 | c.196G= (p.Val66=) n.355G= c.-544+12056G= (n.-544+12056G=) n.370G= n.613G= n.2757G= c.295G= (p.Val99=) c.334G= (p.Val112=) c.235G= (p.Val79=) | |
| 11 | g.44107908G>T | CA380179830 | EXT2 | c.196G>T (p.Val66Leu) n.355G>T c.-544+12056G>T (n.-544+12056G>T) n.370G>T n.613G>T n.2757G>T c.295G>T (p.Val99Leu) c.334G>T (p.Val112Leu) c.235G>T (p.Val79Leu) | |
| 11 | g.44107909T>A | CA380179832 | EXT2 | c.197T>A (p.Val66Glu) n.356T>A c.-544+12057T>A (n.-544+12057T>A) n.371T>A n.614T>A n.2758T>A c.296T>A (p.Val99Glu) c.335T>A (p.Val112Glu) c.236T>A (p.Val79Glu) | gnomAD v4 |
| 11 | g.44107909T>C | CA380179833 | EXT2 | c.197T>C (p.Val66Ala) n.356T>C c.-544+12057T>C (n.-544+12057T>C) n.371T>C n.614T>C n.2758T>C c.296T>C (p.Val99Ala) c.335T>C (p.Val112Ala) c.236T>C (p.Val79Ala) | |
| 11 | g.44107909T>G | CA380179834 | EXT2 | c.197T>G (p.Val66Gly) n.356T>G c.-544+12057T>G (n.-544+12057T>G) n.371T>G n.614T>G n.2758T>G c.296T>G (p.Val99Gly) c.335T>G (p.Val112Gly) c.236T>G (p.Val79Gly) | |
| 11 | g.44107909_44107914delinsC | CA2695213766 | EXT2 | c.197_202delinsC (p.Val66AlafsTer3) n.356_361delinsC c.-544+12057_-544+12062delinsC (n.-544+12057_-544+12062delinsC) n.371_376delinsC n.614_619delinsC n.2758_2763delinsC c.296_301delinsC (p.Val99AlafsTer3) c.335_340delinsC (p.Val112AlafsTer3) c.236_241delinsC (p.Val79AlafsTer3) | |
| 11 | g.44107910G>A | CA474035025 | EXT2 | c.198G>A (p.Val66=) n.357G>A c.-544+12058G>A (n.-544+12058G>A) n.372G>A n.615G>A n.2759G>A c.297G>A (p.Val99=) c.336G>A (p.Val112=) c.237G>A (p.Val79=) | |
| 11 | g.44107910G>C | CA474035026 | EXT2 | c.198G>C (p.Val66=) n.357G>C c.-544+12058G>C (n.-544+12058G>C) n.372G>C n.615G>C n.2759G>C c.297G>C (p.Val99=) c.336G>C (p.Val112=) c.237G>C (p.Val79=) | ClinVar dbSNP |
| 11 | g.44107910G= | CA1967875476 | EXT2 | c.198G= (p.Val66=) n.357G= c.-544+12058G= (n.-544+12058G=) n.372G= n.615G= n.2759G= c.297G= (p.Val99=) c.336G= (p.Val112=) c.237G= (p.Val79=) | |
| 11 | g.44107910G>T | CA5954837 | EXT2 | c.198G>T (p.Val66=) n.357G>T c.-544+12058G>T (n.-544+12058G>T) n.372G>T n.615G>T n.2759G>T c.297G>T (p.Val99=) c.336G>T (p.Val112=) c.237G>T (p.Val79=) | dbSNP ExAC gnomAD v2 |
| 11 | g.44107911C>A | CA380179835 | EXT2 | c.199C>A (p.Pro67Thr) n.358C>A c.-544+12059C>A (n.-544+12059C>A) n.373C>A n.616C>A n.2760C>A c.298C>A (p.Pro100Thr) c.337C>A (p.Pro113Thr) c.238C>A (p.Pro80Thr) | dbSNP |
| 11 | g.44107911C>G | CA380179836 | EXT2 | c.199C>G (p.Pro67Ala) n.358C>G c.-544+12059C>G (n.-544+12059C>G) n.373C>G n.616C>G n.2760C>G c.298C>G (p.Pro100Ala) c.337C>G (p.Pro113Ala) c.238C>G (p.Pro80Ala) | |
| 11 | g.44107911C>T | CA380179837 | EXT2 | c.199C>T (p.Pro67Ser) n.358C>T c.-544+12059C>T (n.-544+12059C>T) n.373C>T n.616C>T n.2760C>T c.298C>T (p.Pro100Ser) c.337C>T (p.Pro113Ser) c.238C>T (p.Pro80Ser) | dbSNP |
| 11 | g.44107912dup | CA2695213767 | EXT2 | c.200dup (p.Val68GlyfsTer3) n.359dup c.-544+12060dup (n.-544+12060dup) n.374dup n.617dup n.2761dup c.299dup (p.Val101GlyfsTer3) c.338dup (p.Val114GlyfsTer3) c.239dup (p.Val81GlyfsTer3) | |
| 11 | g.44107912C>A | CA380179838 | EXT2 | c.200C>A (p.Pro67Gln) n.359C>A c.-544+12060C>A (n.-544+12060C>A) n.374C>A n.617C>A n.2761C>A c.299C>A (p.Pro100Gln) c.338C>A (p.Pro113Gln) c.239C>A (p.Pro80Gln) | |
| 11 | g.44107912C= | CA1967875481 | EXT2 | c.200C= (p.Pro67=) n.359C= c.-544+12060C= (n.-544+12060C=) n.374C= n.617C= n.2761C= c.299C= (p.Pro100=) c.338C= (p.Pro113=) c.239C= (p.Pro80=) | |
| 11 | g.44107912C>G | CA380179839 | EXT2 | c.200C>G (p.Pro67Arg) n.359C>G c.-544+12060C>G (n.-544+12060C>G) n.374C>G n.617C>G n.2761C>G c.299C>G (p.Pro100Arg) c.338C>G (p.Pro113Arg) c.239C>G (p.Pro80Arg) | dbSNP |
| 11 | g.44107912C>T | CA5954838 | EXT2 | c.200C>T (p.Pro67Leu) n.359C>T c.-544+12060C>T (n.-544+12060C>T) n.374C>T n.617C>T n.2761C>T c.299C>T (p.Pro100Leu) c.338C>T (p.Pro113Leu) c.239C>T (p.Pro80Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107913G>A | CA5954839 | EXT2 | c.201G>A (p.Pro67=) n.360G>A c.-544+12061G>A (n.-544+12061G>A) n.375G>A n.618G>A n.2762G>A c.300G>A (p.Pro100=) c.339G>A (p.Pro113=) c.240G>A (p.Pro80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107913G>C | CA474035027 | EXT2 | c.201G>C (p.Pro67=) n.360G>C c.-544+12061G>C (n.-544+12061G>C) n.375G>C n.618G>C n.2762G>C c.300G>C (p.Pro100=) c.339G>C (p.Pro113=) c.240G>C (p.Pro80=) | |
| 11 | g.44107913G= | CA1967875489 | EXT2 | c.201G= (p.Pro67=) n.360G= c.-544+12061G= (n.-544+12061G=) n.375G= n.618G= n.2762G= c.300G= (p.Pro100=) c.339G= (p.Pro113=) c.240G= (p.Pro80=) | |
| 11 | g.44107913G>T | CA474035028 | EXT2 | c.201G>T (p.Pro67=) n.360G>T c.-544+12061G>T (n.-544+12061G>T) n.375G>T n.618G>T n.2762G>T c.300G>T (p.Pro100=) c.339G>T (p.Pro113=) c.240G>T (p.Pro80=) | |
| 11 | g.44107914del | CA2695213768 | EXT2 | c.202del (p.Val68LeufsTer?) n.361del c.-544+12062del (n.-544+12062del) n.376del n.619del n.2763del c.301del (p.Val101LeufsTer?) c.340del (p.Val114LeufsTer?) c.241del (p.Val81LeufsTer?) | |
| 11 | g.44107913_44107914insC | CA2695213769 | EXT2 | c.201_202insC (p.Val68ArgfsTer3) n.360_361insC c.-544+12061_-544+12062insC (n.-544+12061_-544+12062insC) n.375_376insC n.618_619insC n.2762_2763insC c.300_301insC (p.Val101ArgfsTer3) c.339_340insC (p.Val114ArgfsTer3) c.240_241insC (p.Val81ArgfsTer3) | |
| 11 | g.44107914G>A | CA380179841 | EXT2 | c.202G>A (p.Val68Ile) n.361G>A c.-544+12062G>A (n.-544+12062G>A) n.376G>A n.619G>A n.2763G>A c.301G>A (p.Val101Ile) c.340G>A (p.Val114Ile) c.241G>A (p.Val81Ile) | dbSNP |
| 11 | g.44107914G>C | CA380179842 | EXT2 | c.202G>C (p.Val68Leu) n.361G>C c.-544+12062G>C (n.-544+12062G>C) n.376G>C n.619G>C n.2763G>C c.301G>C (p.Val101Leu) c.340G>C (p.Val114Leu) c.241G>C (p.Val81Leu) | dbSNP gnomAD v4 |
| 11 | g.44107914G>T | CA380179840 | EXT2 | c.202G>T (p.Val68Phe) n.361G>T c.-544+12062G>T (n.-544+12062G>T) n.376G>T n.619G>T n.2763G>T c.301G>T (p.Val101Phe) c.340G>T (p.Val114Phe) c.241G>T (p.Val81Phe) | gnomAD v4 |
| 11 | g.44107914_44107970delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA | CA1967875498 | EXT2 | c.202_258delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val68=) n.361_417delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA c.-544+12062_-544+12118delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (n.-544+12062_-544+12118delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA) n.376_432delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA n.619_675delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA n.2763_2819delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA c.301_357delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val101=) c.340_396delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val114=) c.241_297delinsGTTGTTAGGCTGCCAGCCGACAGTCCCATCCCAGAGCGGGGGGATCTCAGTTGCAGA (p.Val81=) | |
| 11 | g.44107915T>A | CA380179845 | EXT2 | c.203T>A (p.Val68Asp) n.362T>A c.-544+12063T>A (n.-544+12063T>A) n.377T>A n.620T>A n.2764T>A c.302T>A (p.Val101Asp) c.341T>A (p.Val114Asp) c.242T>A (p.Val81Asp) | |
| 11 | g.44107915T>C | CA380179843 | EXT2 | c.203T>C (p.Val68Ala) n.362T>C c.-544+12063T>C (n.-544+12063T>C) n.377T>C n.620T>C n.2764T>C c.302T>C (p.Val101Ala) c.341T>C (p.Val114Ala) c.242T>C (p.Val81Ala) | |
| 11 | g.44107915T>G | CA380179844 | EXT2 | c.203T>G (p.Val68Gly) n.362T>G c.-544+12063T>G (n.-544+12063T>G) n.377T>G n.620T>G n.2764T>G c.302T>G (p.Val101Gly) c.341T>G (p.Val114Gly) c.242T>G (p.Val81Gly) | gnomAD v4 |
| 11 | g.44107915_44107970del | CA1139661914 | EXT2 | c.203_258del (p.Val68AspfsTer6) n.362_417del c.-544+12063_-544+12118del (n.-544+12063_-544+12118del) n.377_432del n.620_675del n.2764_2819del c.302_357del (p.Val101AspfsTer6) c.341_396del (p.Val114AspfsTer6) c.242_297del (p.Val81AspfsTer6) | ClinVar dbSNP |
| 11 | g.44107916T>A | CA474035031 | EXT2 | c.204T>A (p.Val68=) n.363T>A c.-544+12064T>A (n.-544+12064T>A) n.378T>A n.621T>A n.2765T>A c.303T>A (p.Val101=) c.342T>A (p.Val114=) c.243T>A (p.Val81=) | |
| 11 | g.44107916T>C | CA474035030 | EXT2 | c.204T>C (p.Val68=) n.363T>C c.-544+12064T>C (n.-544+12064T>C) n.378T>C n.621T>C n.2765T>C c.303T>C (p.Val101=) c.342T>C (p.Val114=) c.243T>C (p.Val81=) | |
| 11 | g.44107916T>G | CA474035029 | EXT2 | c.204T>G (p.Val68=) n.363T>G c.-544+12064T>G (n.-544+12064T>G) n.378T>G n.621T>G n.2765T>G c.303T>G (p.Val101=) c.342T>G (p.Val114=) c.243T>G (p.Val81=) | |
| 11 | g.44107917G>A | CA10634840 | EXT2 | c.205G>A (p.Val69Ile) n.364G>A c.-544+12065G>A (n.-544+12065G>A) n.379G>A n.622G>A n.2766G>A c.304G>A (p.Val102Ile) c.343G>A (p.Val115Ile) c.244G>A (p.Val82Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.44107917G>C | CA380179846 | EXT2 | c.205G>C (p.Val69Leu) n.364G>C c.-544+12065G>C (n.-544+12065G>C) n.379G>C n.622G>C n.2766G>C c.304G>C (p.Val102Leu) c.343G>C (p.Val115Leu) c.244G>C (p.Val82Leu) | |
| 11 | g.44107917G= | CA1967875506 | EXT2 | c.205G= (p.Val69=) n.364G= c.-544+12065G= (n.-544+12065G=) n.379G= n.622G= n.2766G= c.304G= (p.Val102=) c.343G= (p.Val115=) c.244G= (p.Val82=) | |
| 11 | g.44107917G>T | CA380179847 | EXT2 | c.205G>T (p.Val69Phe) n.364G>T c.-544+12065G>T (n.-544+12065G>T) n.379G>T n.622G>T n.2766G>T c.304G>T (p.Val102Phe) c.343G>T (p.Val115Phe) c.244G>T (p.Val82Phe) | |
| 11 | g.44107918T>A | CA380179848 | EXT2 | c.206T>A (p.Val69Asp) n.365T>A c.-544+12066T>A (n.-544+12066T>A) n.380T>A n.623T>A n.2767T>A c.305T>A (p.Val102Asp) c.344T>A (p.Val115Asp) c.245T>A (p.Val82Asp) | |
| 11 | g.44107918T>C | CA380179849 | EXT2 | c.206T>C (p.Val69Ala) n.365T>C c.-544+12066T>C (n.-544+12066T>C) n.380T>C n.623T>C n.2767T>C c.305T>C (p.Val102Ala) c.344T>C (p.Val115Ala) c.245T>C (p.Val82Ala) | |
| 11 | g.44107918T>G | CA380179850 | EXT2 | c.206T>G (p.Val69Gly) n.365T>G c.-544+12066T>G (n.-544+12066T>G) n.380T>G n.623T>G n.2767T>G c.305T>G (p.Val102Gly) c.344T>G (p.Val115Gly) c.245T>G (p.Val82Gly) | dbSNP |
| 11 | g.44107919T>A | CA474035032 | EXT2 | c.207T>A (p.Val69=) n.366T>A c.-544+12067T>A (n.-544+12067T>A) n.381T>A n.624T>A n.2768T>A c.306T>A (p.Val102=) c.345T>A (p.Val115=) c.246T>A (p.Val82=) | |
| 11 | g.44107919T>C | CA474035034 | EXT2 | c.207T>C (p.Val69=) n.366T>C c.-544+12067T>C (n.-544+12067T>C) n.381T>C n.624T>C n.2768T>C c.306T>C (p.Val102=) c.345T>C (p.Val115=) c.246T>C (p.Val82=) | dbSNP gnomAD v4 |
| 11 | g.44107919T>G | CA474035033 | EXT2 | c.207T>G (p.Val69=) n.366T>G c.-544+12067T>G (n.-544+12067T>G) n.381T>G n.624T>G n.2768T>G c.306T>G (p.Val102=) c.345T>G (p.Val115=) c.246T>G (p.Val82=) | |
| 11 | g.44107920A= | CA1967875510 | EXT2 | c.208A= (p.Arg70=) n.367A= c.-544+12068A= (n.-544+12068A=) n.382A= n.625A= n.2769A= c.307A= (p.Arg103=) c.346A= (p.Arg116=) c.247A= (p.Arg83=) | |
| 11 | g.44107920A>C | CA474035035 | EXT2 | c.208A>C (p.Arg70=) n.367A>C c.-544+12068A>C (n.-544+12068A>C) n.382A>C n.625A>C n.2769A>C c.307A>C (p.Arg103=) c.346A>C (p.Arg116=) c.247A>C (p.Arg83=) | |
| 11 | g.44107920A>G | CA380179851 | EXT2 | c.208A>G (p.Arg70Gly) n.367A>G c.-544+12068A>G (n.-544+12068A>G) n.382A>G n.625A>G n.2769A>G c.307A>G (p.Arg103Gly) c.346A>G (p.Arg116Gly) c.247A>G (p.Arg83Gly) | |
| 11 | g.44107920A>T | CA5954840 | EXT2 | c.208A>T (p.Arg70Trp) n.367A>T c.-544+12068A>T (n.-544+12068A>T) n.382A>T n.625A>T n.2769A>T c.307A>T (p.Arg103Trp) c.346A>T (p.Arg116Trp) c.247A>T (p.Arg83Trp) | dbSNP ExAC gnomAD v2 |
| 11 | g.44107921G>A | CA380179852 | EXT2 | c.209G>A (p.Arg70Lys) n.368G>A c.-544+12069G>A (n.-544+12069G>A) n.383G>A n.626G>A n.2770G>A c.308G>A (p.Arg103Lys) c.347G>A (p.Arg116Lys) c.248G>A (p.Arg83Lys) | |
| 11 | g.44107921G>C | CA380179853 | EXT2 | c.209G>C (p.Arg70Thr) n.368G>C c.-544+12069G>C (n.-544+12069G>C) n.383G>C n.626G>C n.2770G>C c.308G>C (p.Arg103Thr) c.347G>C (p.Arg116Thr) c.248G>C (p.Arg83Thr) | |
| 11 | g.44107921G>T | CA380179854 | EXT2 | c.209G>T (p.Arg70Met) n.368G>T c.-544+12069G>T (n.-544+12069G>T) n.383G>T n.626G>T n.2770G>T c.308G>T (p.Arg103Met) c.347G>T (p.Arg116Met) c.248G>T (p.Arg83Met) | |
| 11 | g.44107922del | CA2695213770 | EXT2 | c.210del (p.Arg70SerfsTer?) n.369del c.-544+12070del (n.-544+12070del) n.384del n.627del n.2771del c.309del (p.Arg103SerfsTer?) c.348del (p.Arg116SerfsTer?) c.249del (p.Arg83SerfsTer?) | |
| 11 | g.44107922G>A | CA5954841 | EXT2 | c.210G>A (p.Arg70=) n.369G>A c.-544+12070G>A (n.-544+12070G>A) n.384G>A n.627G>A n.2771G>A c.309G>A (p.Arg103=) c.348G>A (p.Arg116=) c.249G>A (p.Arg83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107922G>C | CA380179855 | EXT2 | c.210G>C (p.Arg70Ser) n.369G>C c.-544+12070G>C (n.-544+12070G>C) n.384G>C n.627G>C n.2771G>C c.309G>C (p.Arg103Ser) c.348G>C (p.Arg116Ser) c.249G>C (p.Arg83Ser) | dbSNP |
| 11 | g.44107922G= | CA1967875512 | EXT2 | c.210G= (p.Arg70=) n.369G= c.-544+12070G= (n.-544+12070G=) n.384G= n.627G= n.2771G= c.309G= (p.Arg103=) c.348G= (p.Arg116=) c.249G= (p.Arg83=) | |
| 11 | g.44107922G>T | CA380179856 | EXT2 | c.210G>T (p.Arg70Ser) n.369G>T c.-544+12070G>T (n.-544+12070G>T) n.384G>T n.627G>T n.2771G>T c.309G>T (p.Arg103Ser) c.348G>T (p.Arg116Ser) c.249G>T (p.Arg83Ser) | |
| 11 | g.44107922_44107923delinsGC | CA1967875513 | EXT2 | c.210_211delinsGC (p.Arg70=) n.369_370delinsGC c.-544+12070_-544+12071delinsGC (n.-544+12070_-544+12071delinsGC) n.384_385delinsGC n.627_628delinsGC n.2771_2772delinsGC c.309_310delinsGC (p.Arg103=) c.348_349delinsGC (p.Arg116=) c.249_250delinsGC (p.Arg83=) | |
| 11 | g.44107923del | CA916081631 | EXT2 | c.211del (p.Leu71CysfsTer?) n.370del c.-544+12071del (n.-544+12071del) n.385del n.628del n.2772del c.310del (p.Leu104CysfsTer?) c.349del (p.Leu117CysfsTer?) c.250del (p.Leu84CysfsTer?) | ClinVar dbSNP |
| 11 | g.44107923C>A | CA380179857 | EXT2 | c.211C>A (p.Leu71Met) n.370C>A c.-544+12071C>A (n.-544+12071C>A) n.385C>A n.628C>A n.2772C>A c.310C>A (p.Leu104Met) c.349C>A (p.Leu117Met) c.250C>A (p.Leu84Met) | |
| 11 | g.44107923C= | CA1967875521 | EXT2 | c.211C= (p.Leu71=) n.370C= c.-544+12071C= (n.-544+12071C=) n.385C= n.628C= n.2772C= c.310C= (p.Leu104=) c.349C= (p.Leu117=) c.250C= (p.Leu84=) | |
| 11 | g.44107923C>G | CA380179858 | EXT2 | c.211C>G (p.Leu71Val) n.370C>G c.-544+12071C>G (n.-544+12071C>G) n.385C>G n.628C>G n.2772C>G c.310C>G (p.Leu104Val) c.349C>G (p.Leu117Val) c.250C>G (p.Leu84Val) | |
| 11 | g.44107923C>T | CA5954842 | EXT2 | c.211C>T (p.Leu71=) n.370C>T c.-544+12071C>T (n.-544+12071C>T) n.385C>T n.628C>T n.2772C>T c.310C>T (p.Leu104=) c.349C>T (p.Leu117=) c.250C>T (p.Leu84=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.44107924T>A | CA380179859 | EXT2 | c.212T>A (p.Leu71Gln) n.371T>A c.-544+12072T>A (n.-544+12072T>A) n.386T>A n.629T>A n.2773T>A c.311T>A (p.Leu104Gln) c.350T>A (p.Leu117Gln) c.251T>A (p.Leu84Gln) | |
| 11 | g.44107924T>C | CA380179860 | EXT2 | c.212T>C (p.Leu71Pro) n.371T>C c.-544+12072T>C (n.-544+12072T>C) n.386T>C n.629T>C n.2773T>C c.311T>C (p.Leu104Pro) c.350T>C (p.Leu117Pro) c.251T>C (p.Leu84Pro) | |
| 11 | g.44107924T>G | CA380179861 | EXT2 | c.212T>G (p.Leu71Arg) n.371T>G c.-544+12072T>G (n.-544+12072T>G) n.386T>G n.629T>G n.2773T>G c.311T>G (p.Leu104Arg) c.350T>G (p.Leu117Arg) c.251T>G (p.Leu84Arg) |