Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31933881G>A | CA363497069 | C2 | c.445G>A (p.Asp149Asn) c.262G>A (p.Asp88Asn) c.631G>A (p.Asp211Asn) c.126G>A (p.Met42Ile) c.226G>A (p.Asp76Asn) n.434G>A n.569G>A c.235G>A (p.Asp79Asn) c.225G>A c.111+98G>A (n.111+98G>A) c.443-3438G>A (n.443-3438G>A) c.*344G>A (n.*344G>A) c.208G>A (p.Asp70Asn) c.544G>A (p.Asp182Asn) | |
6 | g.31933881G>C | CA363497060 | C2 | c.445G>C (p.Asp149His) c.262G>C (p.Asp88His) c.631G>C (p.Asp211His) c.126G>C (p.Met42Ile) c.226G>C (p.Asp76His) n.434G>C n.569G>C c.235G>C (p.Asp79His) c.225G>C c.111+98G>C (n.111+98G>C) c.443-3438G>C (n.443-3438G>C) c.*344G>C (n.*344G>C) c.208G>C (p.Asp70His) c.544G>C (p.Asp182His) | |
6 | g.31933881G>T | CA363497067 | C2 | c.445G>T (p.Asp149Tyr) c.262G>T (p.Asp88Tyr) c.631G>T (p.Asp211Tyr) c.126G>T (p.Met42Ile) c.226G>T (p.Asp76Tyr) n.434G>T n.569G>T c.235G>T (p.Asp79Tyr) c.225G>T c.111+98G>T (n.111+98G>T) c.443-3438G>T (n.443-3438G>T) c.*344G>T (n.*344G>T) c.208G>T (p.Asp70Tyr) c.544G>T (p.Asp182Tyr) | |
6 | g.31933882A>C | CA363497072 | C2 | c.446A>C (p.Asp149Ala) c.263A>C (p.Asp88Ala) c.632A>C (p.Asp211Ala) c.127A>C (p.Thr43Pro) c.227A>C (p.Asp76Ala) n.435A>C n.570A>C c.236A>C (p.Asp79Ala) c.226A>C c.111+99A>C (n.111+99A>C) c.443-3437A>C (n.443-3437A>C) c.*345A>C (n.*345A>C) c.209A>C (p.Asp70Ala) c.545A>C (p.Asp182Ala) | |
6 | g.31933882A>G | CA363497074 | C2 | c.446A>G (p.Asp149Gly) c.263A>G (p.Asp88Gly) c.632A>G (p.Asp211Gly) c.127A>G (p.Thr43Ala) c.227A>G (p.Asp76Gly) n.435A>G n.570A>G c.236A>G (p.Asp79Gly) c.226A>G c.111+99A>G (n.111+99A>G) c.443-3437A>G (n.443-3437A>G) c.*345A>G (n.*345A>G) c.209A>G (p.Asp70Gly) c.545A>G (p.Asp182Gly) | |
6 | g.31933882A>T | CA363497077 | C2 | c.446A>T (p.Asp149Val) c.263A>T (p.Asp88Val) c.632A>T (p.Asp211Val) c.127A>T (p.Thr43Ser) c.227A>T (p.Asp76Val) n.435A>T n.570A>T c.236A>T (p.Asp79Val) c.226A>T c.111+99A>T (n.111+99A>T) c.443-3437A>T (n.443-3437A>T) c.*345A>T (n.*345A>T) c.209A>T (p.Asp70Val) c.545A>T (p.Asp182Val) | |
6 | g.31933883C>A | CA363497085 | C2 | c.447C>A (p.Asp149Glu) c.264C>A (p.Asp88Glu) c.633C>A (p.Asp211Glu) c.128C>A (p.Thr43Asn) c.228C>A (p.Asp76Glu) n.436C>A n.571C>A c.237C>A (p.Asp79Glu) c.227C>A c.111+100C>A (n.111+100C>A) c.443-3436C>A (n.443-3436C>A) c.*346C>A (n.*346C>A) c.210C>A (p.Asp70Glu) c.546C>A (p.Asp182Glu) | |
6 | g.31933883C>G | CA363497082 | C2 | c.447C>G (p.Asp149Glu) c.264C>G (p.Asp88Glu) c.633C>G (p.Asp211Glu) c.128C>G (p.Thr43Ser) c.228C>G (p.Asp76Glu) n.436C>G n.571C>G c.237C>G (p.Asp79Glu) c.227C>G c.111+100C>G (n.111+100C>G) c.443-3436C>G (n.443-3436C>G) c.*346C>G (n.*346C>G) c.210C>G (p.Asp70Glu) c.546C>G (p.Asp182Glu) | |
6 | g.31933883C>T | CA363497079 | C2 | c.447C>T (p.Asp149=) c.264C>T (p.Asp88=) c.633C>T (p.Asp211=) c.128C>T (p.Thr43Ile) c.228C>T (p.Asp76=) n.436C>T n.571C>T c.237C>T (p.Asp79=) c.227C>T c.111+100C>T (n.111+100C>T) c.443-3436C>T (n.443-3436C>T) c.*346C>T (n.*346C>T) c.210C>T (p.Asp70=) c.546C>T (p.Asp182=) | |
6 | g.31933884T>A | CA363497088 | C2 | c.448T>A (p.Phe150Ile) c.265T>A (p.Phe89Ile) c.634T>A (p.Phe212Ile) c.129T>A (p.Thr43=) c.229T>A (p.Phe77Ile) n.437T>A n.572T>A c.238T>A (p.Phe80Ile) c.228T>A c.111+101T>A (n.111+101T>A) c.443-3435T>A (n.443-3435T>A) c.*347T>A (n.*347T>A) c.211T>A (p.Phe71Ile) c.547T>A (p.Phe183Ile) | |
6 | g.31933884T>C | CA363497091 | C2 | c.448T>C (p.Phe150Leu) c.265T>C (p.Phe89Leu) c.634T>C (p.Phe212Leu) c.129T>C (p.Thr43=) c.229T>C (p.Phe77Leu) n.437T>C n.572T>C c.238T>C (p.Phe80Leu) c.228T>C c.111+101T>C (n.111+101T>C) c.443-3435T>C (n.443-3435T>C) c.*347T>C (n.*347T>C) c.211T>C (p.Phe71Leu) c.547T>C (p.Phe183Leu) | |
6 | g.31933884T>G | CA363497093 | C2 | c.448T>G (p.Phe150Val) c.265T>G (p.Phe89Val) c.634T>G (p.Phe212Val) c.129T>G (p.Thr43=) c.229T>G (p.Phe77Val) n.437T>G n.572T>G c.238T>G (p.Phe80Val) c.228T>G c.111+101T>G (n.111+101T>G) c.443-3435T>G (n.443-3435T>G) c.*347T>G (n.*347T>G) c.211T>G (p.Phe71Val) c.547T>G (p.Phe183Val) | |
6 | g.31933885T>A | CA363497097 | C2 | c.449T>A (p.Phe150Tyr) c.266T>A (p.Phe89Tyr) c.635T>A (p.Phe212Tyr) c.130T>A (p.Ser44Thr) c.230T>A (p.Phe77Tyr) n.438T>A n.573T>A c.239T>A (p.Phe80Tyr) c.229T>A c.111+102T>A (n.111+102T>A) c.443-3434T>A (n.443-3434T>A) c.*348T>A (n.*348T>A) c.212T>A (p.Phe71Tyr) c.548T>A (p.Phe183Tyr) | |
6 | g.31933885T>C | CA363497100 | C2 | c.449T>C (p.Phe150Ser) c.266T>C (p.Phe89Ser) c.635T>C (p.Phe212Ser) c.130T>C (p.Ser44Pro) c.230T>C (p.Phe77Ser) n.438T>C n.573T>C c.239T>C (p.Phe80Ser) c.229T>C c.111+102T>C (n.111+102T>C) c.443-3434T>C (n.443-3434T>C) c.*348T>C (n.*348T>C) c.212T>C (p.Phe71Ser) c.548T>C (p.Phe183Ser) | |
6 | g.31933885T>G | CA363497102 | C2 | c.449T>G (p.Phe150Cys) c.266T>G (p.Phe89Cys) c.635T>G (p.Phe212Cys) c.130T>G (p.Ser44Ala) c.230T>G (p.Phe77Cys) n.438T>G n.573T>G c.239T>G (p.Phe80Cys) c.229T>G c.111+102T>G (n.111+102T>G) c.443-3434T>G (n.443-3434T>G) c.*348T>G (n.*348T>G) c.212T>G (p.Phe71Cys) c.548T>G (p.Phe183Cys) | |
6 | g.31933886C>A | CA363497107 | C2 | c.450C>A (p.Phe150Leu) c.267C>A (p.Phe89Leu) c.636C>A (p.Phe212Leu) c.131C>A (p.Ser44Tyr) c.231C>A (p.Phe77Leu) n.439C>A n.574C>A c.240C>A (p.Phe80Leu) c.230C>A c.111+103C>A (n.111+103C>A) c.443-3433C>A (n.443-3433C>A) c.*349C>A (n.*349C>A) c.213C>A (p.Phe71Leu) c.549C>A (p.Phe183Leu) | |
6 | g.31933886C>G | CA363497111 | C2 | c.450C>G (p.Phe150Leu) c.267C>G (p.Phe89Leu) c.636C>G (p.Phe212Leu) c.131C>G (p.Ser44Cys) c.231C>G (p.Phe77Leu) n.439C>G n.574C>G c.240C>G (p.Phe80Leu) c.230C>G c.111+103C>G (n.111+103C>G) c.443-3433C>G (n.443-3433C>G) c.*349C>G (n.*349C>G) c.213C>G (p.Phe71Leu) c.549C>G (p.Phe183Leu) | |
6 | g.31933886C>T | CA363497108 | C2 | c.450C>T (p.Phe150=) c.267C>T (p.Phe89=) c.636C>T (p.Phe212=) c.131C>T (p.Ser44Phe) c.231C>T (p.Phe77=) n.439C>T n.574C>T c.240C>T (p.Phe80=) c.230C>T c.111+103C>T (n.111+103C>T) c.443-3433C>T (n.443-3433C>T) c.*349C>T (n.*349C>T) c.213C>T (p.Phe71=) c.549C>T (p.Phe183=) | |
6 | g.31933887C>A | CA3727459 | C2 | c.451C>A (p.Pro151Thr) c.268C>A (p.Pro90Thr) c.637C>A (p.Pro213Thr) c.132C>A (p.Ser44=) c.232C>A (p.Pro78Thr) n.440C>A n.575C>A c.241C>A (p.Pro81Thr) c.231C>A c.111+104C>A (n.111+104C>A) c.443-3432C>A (n.443-3432C>A) c.*350C>A (n.*350C>A) c.214C>A (p.Pro72Thr) c.550C>A (p.Pro184Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933887C= | CA1619369904 | C2 | c.451C= (p.Pro151=) c.268C= (p.Pro90=) c.637C= (p.Pro213=) c.132C= (p.Ser44=) c.232C= (p.Pro78=) n.440C= n.575C= c.241C= (p.Pro81=) c.231C= c.111+104C= (n.111+104C=) c.443-3432C= (n.443-3432C=) c.*350C= (n.*350C=) c.214C= (p.Pro72=) c.550C= (p.Pro184=) | |
6 | g.31933887C>G | CA363497115 | C2 | c.451C>G (p.Pro151Ala) c.268C>G (p.Pro90Ala) c.637C>G (p.Pro213Ala) c.132C>G (p.Ser44=) c.232C>G (p.Pro78Ala) n.440C>G n.575C>G c.241C>G (p.Pro81Ala) c.231C>G c.111+104C>G (n.111+104C>G) c.443-3432C>G (n.443-3432C>G) c.*350C>G (n.*350C>G) c.214C>G (p.Pro72Ala) c.550C>G (p.Pro184Ala) | |
6 | g.31933887C>T | CA363497118 | C2 | c.451C>T (p.Pro151Ser) c.268C>T (p.Pro90Ser) c.637C>T (p.Pro213Ser) c.132C>T (p.Ser44=) c.232C>T (p.Pro78Ser) n.440C>T n.575C>T c.241C>T (p.Pro81Ser) c.231C>T c.111+104C>T (n.111+104C>T) c.443-3432C>T (n.443-3432C>T) c.*350C>T (n.*350C>T) c.214C>T (p.Pro72Ser) c.550C>T (p.Pro184Ser) | gnomAD v4 |
6 | g.31933888C>A | CA363497121 | C2 | c.452C>A (p.Pro151His) c.269C>A (p.Pro90His) c.638C>A (p.Pro213His) c.133C>A (p.Leu45Met) c.233C>A (p.Pro78His) n.441C>A n.576C>A c.242C>A (p.Pro81His) c.232C>A c.111+105C>A (n.111+105C>A) c.443-3431C>A (n.443-3431C>A) c.*351C>A (n.*351C>A) c.215C>A (p.Pro72His) c.551C>A (p.Pro184His) | |
6 | g.31933888C>G | CA363497124 | C2 | c.452C>G (p.Pro151Arg) c.269C>G (p.Pro90Arg) c.638C>G (p.Pro213Arg) c.133C>G (p.Leu45Val) c.233C>G (p.Pro78Arg) n.441C>G n.576C>G c.242C>G (p.Pro81Arg) c.232C>G c.111+105C>G (n.111+105C>G) c.443-3431C>G (n.443-3431C>G) c.*351C>G (n.*351C>G) c.215C>G (p.Pro72Arg) c.551C>G (p.Pro184Arg) | |
6 | g.31933888C>T | CA363497125 | C2 | c.452C>T (p.Pro151Leu) c.269C>T (p.Pro90Leu) c.638C>T (p.Pro213Leu) c.133C>T (p.Leu45=) c.233C>T (p.Pro78Leu) n.441C>T n.576C>T c.242C>T (p.Pro81Leu) c.232C>T c.111+105C>T (n.111+105C>T) c.443-3431C>T (n.443-3431C>T) c.*351C>T (n.*351C>T) c.215C>T (p.Pro72Leu) c.551C>T (p.Pro184Leu) | |
6 | g.31933889T>A | CA363497129 | C2 | c.453T>A (p.Pro151=) c.270T>A (p.Pro90=) c.639T>A (p.Pro213=) c.134T>A (p.Leu45Gln) c.234T>A (p.Pro78=) n.442T>A n.577T>A c.243T>A (p.Pro81=) c.233T>A c.111+106T>A (n.111+106T>A) c.443-3430T>A (n.443-3430T>A) c.*352T>A (n.*352T>A) c.216T>A (p.Pro72=) c.552T>A (p.Pro184=) | |
6 | g.31933889T>C | CA363497131 | C2 | c.453T>C (p.Pro151=) c.270T>C (p.Pro90=) c.639T>C (p.Pro213=) c.134T>C (p.Leu45Pro) c.234T>C (p.Pro78=) n.442T>C n.577T>C c.243T>C (p.Pro81=) c.233T>C c.111+106T>C (n.111+106T>C) c.443-3430T>C (n.443-3430T>C) c.*352T>C (n.*352T>C) c.216T>C (p.Pro72=) c.552T>C (p.Pro184=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933889T>G | CA363497133 | C2 | c.453T>G (p.Pro151=) c.270T>G (p.Pro90=) c.639T>G (p.Pro213=) c.134T>G (p.Leu45Arg) c.234T>G (p.Pro78=) n.442T>G n.577T>G c.243T>G (p.Pro81=) c.233T>G c.111+106T>G (n.111+106T>G) c.443-3430T>G (n.443-3430T>G) c.*352T>G (n.*352T>G) c.216T>G (p.Pro72=) c.552T>G (p.Pro184=) | |
6 | g.31933889T= | CA1619369905 | C2 | c.453T= (p.Pro151=) c.270T= (p.Pro90=) c.639T= (p.Pro213=) c.134T= (p.Leu45=) c.234T= (p.Pro78=) n.442T= n.577T= c.243T= (p.Pro81=) c.233T= c.111+106T= (n.111+106T=) c.443-3430T= (n.443-3430T=) c.*352T= (n.*352T=) c.216T= (p.Pro72=) c.552T= (p.Pro184=) | |
6 | g.31933890G>A | CA136929247 | C2 | c.454G>A (p.Glu152Lys) c.271G>A (p.Glu91Lys) c.640G>A (p.Glu214Lys) c.135G>A (p.Leu45=) c.235G>A (p.Glu79Lys) n.443G>A n.578G>A c.244G>A (p.Glu82Lys) c.234G>A c.111+107G>A (n.111+107G>A) c.443-3429G>A (n.443-3429G>A) c.*353G>A (n.*353G>A) c.217G>A (p.Glu73Lys) c.553G>A (p.Glu185Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933890G>C | CA363497140 | C2 | c.454G>C (p.Glu152Gln) c.271G>C (p.Glu91Gln) c.640G>C (p.Glu214Gln) c.135G>C (p.Leu45=) c.235G>C (p.Glu79Gln) n.443G>C n.578G>C c.244G>C (p.Glu82Gln) c.234G>C c.111+107G>C (n.111+107G>C) c.443-3429G>C (n.443-3429G>C) c.*353G>C (n.*353G>C) c.217G>C (p.Glu73Gln) c.553G>C (p.Glu185Gln) | dbSNP gnomAD v2 |
6 | g.31933890G= | CA1619369906 | C2 | c.454G= (p.Glu152=) c.271G= (p.Glu91=) c.640G= (p.Glu214=) c.135G= (p.Leu45=) c.235G= (p.Glu79=) n.443G= n.578G= c.244G= (p.Glu82=) c.234G= c.111+107G= (n.111+107G=) c.443-3429G= (n.443-3429G=) c.*353G= (n.*353G=) c.217G= (p.Glu73=) c.553G= (p.Glu185=) | |
6 | g.31933890G>T | CA363497142 | C2 | c.454G>T (p.Glu152Ter) c.271G>T (p.Glu91Ter) c.640G>T (p.Glu214Ter) c.135G>T (p.Leu45=) c.235G>T (p.Glu79Ter) n.443G>T n.578G>T c.244G>T (p.Glu82Ter) c.234G>T c.111+107G>T (n.111+107G>T) c.443-3429G>T (n.443-3429G>T) c.*353G>T (n.*353G>T) c.217G>T (p.Glu73Ter) c.553G>T (p.Glu185Ter) | |
6 | g.31933891A>C | CA363497149 | C2 | c.455A>C (p.Glu152Ala) c.272A>C (p.Glu91Ala) c.641A>C (p.Glu214Ala) c.136A>C (p.Arg46=) c.236A>C (p.Glu79Ala) n.444A>C n.579A>C c.245A>C (p.Glu82Ala) c.235A>C c.111+108A>C (n.111+108A>C) c.443-3428A>C (n.443-3428A>C) c.*354A>C (n.*354A>C) c.218A>C (p.Glu73Ala) c.554A>C (p.Glu185Ala) | |
6 | g.31933891A>G | CA363497147 | C2 | c.455A>G (p.Glu152Gly) c.272A>G (p.Glu91Gly) c.641A>G (p.Glu214Gly) c.136A>G (p.Arg46Gly) c.236A>G (p.Glu79Gly) n.444A>G n.579A>G c.245A>G (p.Glu82Gly) c.235A>G c.111+108A>G (n.111+108A>G) c.443-3428A>G (n.443-3428A>G) c.*354A>G (n.*354A>G) c.218A>G (p.Glu73Gly) c.554A>G (p.Glu185Gly) | |
6 | g.31933891A>T | CA363497146 | C2 | c.455A>T (p.Glu152Val) c.272A>T (p.Glu91Val) c.641A>T (p.Glu214Val) c.136A>T (p.Arg46Trp) c.236A>T (p.Glu79Val) n.444A>T n.579A>T c.245A>T (p.Glu82Val) c.235A>T c.111+108A>T (n.111+108A>T) c.443-3428A>T (n.443-3428A>T) c.*354A>T (n.*354A>T) c.218A>T (p.Glu73Val) c.554A>T (p.Glu185Val) | |
6 | g.31933892G>A | CA363497153 | C2 | c.456G>A (p.Glu152=) c.273G>A (p.Glu91=) c.642G>A (p.Glu214=) c.137G>A (p.Arg46Lys) c.237G>A (p.Glu79=) n.445G>A n.580G>A c.246G>A (p.Glu82=) c.236G>A c.111+109G>A (n.111+109G>A) c.443-3427G>A (n.443-3427G>A) c.*355G>A (n.*355G>A) c.219G>A (p.Glu73=) c.555G>A (p.Glu185=) | |
6 | g.31933892G>C | CA363497155 | C2 | c.456G>C (p.Glu152Asp) c.273G>C (p.Glu91Asp) c.642G>C (p.Glu214Asp) c.137G>C (p.Arg46Thr) c.237G>C (p.Glu79Asp) n.445G>C n.580G>C c.246G>C (p.Glu82Asp) c.236G>C c.111+109G>C (n.111+109G>C) c.443-3427G>C (n.443-3427G>C) c.*355G>C (n.*355G>C) c.219G>C (p.Glu73Asp) c.555G>C (p.Glu185Asp) | |
6 | g.31933892G>T | CA363497158 | C2 | c.456G>T (p.Glu152Asp) c.273G>T (p.Glu91Asp) c.642G>T (p.Glu214Asp) c.137G>T (p.Arg46Met) c.237G>T (p.Glu79Asp) n.445G>T n.580G>T c.246G>T (p.Glu82Asp) c.236G>T c.111+109G>T (n.111+109G>T) c.443-3427G>T (n.443-3427G>T) c.*355G>T (n.*355G>T) c.219G>T (p.Glu73Asp) c.555G>T (p.Glu185Asp) | |
6 | g.31933893G>A | CA363497163 | C2 | c.457G>A (p.Asp153Asn) c.274G>A (p.Asp92Asn) c.643G>A (p.Asp215Asn) c.138G>A (p.Arg46=) c.238G>A (p.Asp80Asn) n.446G>A n.581G>A c.247G>A (p.Asp83Asn) c.237G>A c.111+110G>A (n.111+110G>A) c.443-3426G>A (n.443-3426G>A) c.*356G>A (n.*356G>A) c.220G>A (p.Asp74Asn) c.556G>A (p.Asp186Asn) | |
6 | g.31933893G>C | CA363497165 | C2 | c.457G>C (p.Asp153His) c.274G>C (p.Asp92His) c.643G>C (p.Asp215His) c.138G>C (p.Arg46Ser) c.238G>C (p.Asp80His) n.446G>C n.581G>C c.247G>C (p.Asp83His) c.237G>C c.111+110G>C (n.111+110G>C) c.443-3426G>C (n.443-3426G>C) c.*356G>C (n.*356G>C) c.220G>C (p.Asp74His) c.556G>C (p.Asp186His) | gnomAD v4 |
6 | g.31933893G>T | CA363497167 | C2 | c.457G>T (p.Asp153Tyr) c.274G>T (p.Asp92Tyr) c.643G>T (p.Asp215Tyr) c.138G>T (p.Arg46Ser) c.238G>T (p.Asp80Tyr) n.446G>T n.581G>T c.247G>T (p.Asp83Tyr) c.237G>T c.111+110G>T (n.111+110G>T) c.443-3426G>T (n.443-3426G>T) c.*356G>T (n.*356G>T) c.220G>T (p.Asp74Tyr) c.556G>T (p.Asp186Tyr) | |
6 | g.31933894A>C | CA363497176 | C2 | c.458A>C (p.Asp153Ala) c.275A>C (p.Asp92Ala) c.644A>C (p.Asp215Ala) c.139A>C (p.Thr47Pro) c.239A>C (p.Asp80Ala) n.447A>C n.582A>C c.248A>C (p.Asp83Ala) c.238A>C c.111+111A>C (n.111+111A>C) c.443-3425A>C (n.443-3425A>C) c.*357A>C (n.*357A>C) c.221A>C (p.Asp74Ala) c.557A>C (p.Asp186Ala) | |
6 | g.31933894A>G | CA363497174 | C2 | c.458A>G (p.Asp153Gly) c.275A>G (p.Asp92Gly) c.644A>G (p.Asp215Gly) c.139A>G (p.Thr47Ala) c.239A>G (p.Asp80Gly) n.447A>G n.582A>G c.248A>G (p.Asp83Gly) c.238A>G c.111+111A>G (n.111+111A>G) c.443-3425A>G (n.443-3425A>G) c.*357A>G (n.*357A>G) c.221A>G (p.Asp74Gly) c.557A>G (p.Asp186Gly) | |
6 | g.31933894A>T | CA363497171 | C2 | c.458A>T (p.Asp153Val) c.275A>T (p.Asp92Val) c.644A>T (p.Asp215Val) c.139A>T (p.Thr47Ser) c.239A>T (p.Asp80Val) n.447A>T n.582A>T c.248A>T (p.Asp83Val) c.238A>T c.111+111A>T (n.111+111A>T) c.443-3425A>T (n.443-3425A>T) c.*357A>T (n.*357A>T) c.221A>T (p.Asp74Val) c.557A>T (p.Asp186Val) | |
6 | g.31933895C>A | CA363497180 | C2 | c.459C>A (p.Asp153Glu) c.276C>A (p.Asp92Glu) c.645C>A (p.Asp215Glu) c.140C>A (p.Thr47Lys) c.240C>A (p.Asp80Glu) n.448C>A n.583C>A c.249C>A (p.Asp83Glu) c.239C>A c.111+112C>A (n.111+112C>A) c.443-3424C>A (n.443-3424C>A) c.*358C>A (n.*358C>A) c.222C>A (p.Asp74Glu) c.558C>A (p.Asp186Glu) | gnomAD v4 |
6 | g.31933895C= | CA1619369907 | C2 | c.459C= (p.Asp153=) c.276C= (p.Asp92=) c.645C= (p.Asp215=) c.140C= (p.Thr47=) c.240C= (p.Asp80=) n.448C= n.583C= c.249C= (p.Asp83=) c.239C= c.111+112C= (n.111+112C=) c.443-3424C= (n.443-3424C=) c.*358C= (n.*358C=) c.222C= (p.Asp74=) c.558C= (p.Asp186=) | |
6 | g.31933895C>G | CA363497182 | C2 | c.459C>G (p.Asp153Glu) c.276C>G (p.Asp92Glu) c.645C>G (p.Asp215Glu) c.140C>G (p.Thr47Arg) c.240C>G (p.Asp80Glu) n.448C>G n.583C>G c.249C>G (p.Asp83Glu) c.239C>G c.111+112C>G (n.111+112C>G) c.443-3424C>G (n.443-3424C>G) c.*358C>G (n.*358C>G) c.222C>G (p.Asp74Glu) c.558C>G (p.Asp186Glu) | |
6 | g.31933895C>T | CA363497184 | C2 | c.459C>T (p.Asp153=) c.276C>T (p.Asp92=) c.645C>T (p.Asp215=) c.140C>T (p.Thr47Met) c.240C>T (p.Asp80=) n.448C>T n.583C>T c.249C>T (p.Asp83=) c.239C>T c.111+112C>T (n.111+112C>T) c.443-3424C>T (n.443-3424C>T) c.*358C>T (n.*358C>T) c.222C>T (p.Asp74=) c.558C>T (p.Asp186=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.31933896G>A | CA363497186 | C2 | c.460G>A (p.Val154Met) c.277G>A (p.Val93Met) c.646G>A (p.Val216Met) c.141G>A (p.Thr47=) c.241G>A (p.Val81Met) n.449G>A n.584G>A c.250G>A (p.Val84Met) c.240G>A c.111+113G>A (n.111+113G>A) c.443-3423G>A (n.443-3423G>A) c.*359G>A (n.*359G>A) c.223G>A (p.Val75Met) c.559G>A (p.Val187Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933896G>C | CA363497187 | C2 | c.460G>C (p.Val154Leu) c.277G>C (p.Val93Leu) c.646G>C (p.Val216Leu) c.141G>C (p.Thr47=) c.241G>C (p.Val81Leu) n.449G>C n.584G>C c.250G>C (p.Val84Leu) c.240G>C c.111+113G>C (n.111+113G>C) c.443-3423G>C (n.443-3423G>C) c.*359G>C (n.*359G>C) c.223G>C (p.Val75Leu) c.559G>C (p.Val187Leu) | |
6 | g.31933896G= | CA1619369908 | C2 | c.460G= (p.Val154=) c.277G= (p.Val93=) c.646G= (p.Val216=) c.141G= (p.Thr47=) c.241G= (p.Val81=) n.449G= n.584G= c.250G= (p.Val84=) c.240G= c.111+113G= (n.111+113G=) c.443-3423G= (n.443-3423G=) c.*359G= (n.*359G=) c.223G= (p.Val75=) c.559G= (p.Val187=) | |
6 | g.31933896G>T | CA363497190 | C2 | c.460G>T (p.Val154Leu) c.277G>T (p.Val93Leu) c.646G>T (p.Val216Leu) c.141G>T (p.Thr47=) c.241G>T (p.Val81Leu) n.449G>T n.584G>T c.250G>T (p.Val84Leu) c.240G>T c.111+113G>T (n.111+113G>T) c.443-3423G>T (n.443-3423G>T) c.*359G>T (n.*359G>T) c.223G>T (p.Val75Leu) c.559G>T (p.Val187Leu) | |
6 | g.31933897T>A | CA363497193 | C2 | c.461T>A (p.Val154Glu) c.278T>A (p.Val93Glu) c.647T>A (p.Val216Glu) c.142T>A (p.Trp48Arg) c.242T>A (p.Val81Glu) n.450T>A n.585T>A c.251T>A (p.Val84Glu) c.241T>A c.111+114T>A (n.111+114T>A) c.443-3422T>A (n.443-3422T>A) c.*360T>A (n.*360T>A) c.224T>A (p.Val75Glu) c.560T>A (p.Val187Glu) | |
6 | g.31933897T>C | CA363497197 | C2 | c.461T>C (p.Val154Ala) c.278T>C (p.Val93Ala) c.647T>C (p.Val216Ala) c.142T>C (p.Trp48Arg) c.242T>C (p.Val81Ala) n.450T>C n.585T>C c.251T>C (p.Val84Ala) c.241T>C c.111+114T>C (n.111+114T>C) c.443-3422T>C (n.443-3422T>C) c.*360T>C (n.*360T>C) c.224T>C (p.Val75Ala) c.560T>C (p.Val187Ala) | |
6 | g.31933897T>G | CA363497195 | C2 | c.461T>G (p.Val154Gly) c.278T>G (p.Val93Gly) c.647T>G (p.Val216Gly) c.142T>G (p.Trp48Gly) c.242T>G (p.Val81Gly) n.450T>G n.585T>G c.251T>G (p.Val84Gly) c.241T>G c.111+114T>G (n.111+114T>G) c.443-3422T>G (n.443-3422T>G) c.*360T>G (n.*360T>G) c.224T>G (p.Val75Gly) c.560T>G (p.Val187Gly) | |
6 | g.31933898G>A | CA363497201 | C2 | c.462G>A (p.Val154=) c.279G>A (p.Val93=) c.648G>A (p.Val216=) c.143G>A (p.Trp48Ter) c.243G>A (p.Val81=) n.451G>A n.586G>A c.252G>A (p.Val84=) c.242G>A c.111+115G>A (n.111+115G>A) c.443-3421G>A (n.443-3421G>A) c.*361G>A (n.*361G>A) c.225G>A (p.Val75=) c.561G>A (p.Val187=) | |
6 | g.31933898G>C | CA363497203 | C2 | c.462G>C (p.Val154=) c.279G>C (p.Val93=) c.648G>C (p.Val216=) c.143G>C (p.Trp48Ser) c.243G>C (p.Val81=) n.451G>C n.586G>C c.252G>C (p.Val84=) c.242G>C c.111+115G>C (n.111+115G>C) c.443-3421G>C (n.443-3421G>C) c.*361G>C (n.*361G>C) c.225G>C (p.Val75=) c.561G>C (p.Val187=) | |
6 | g.31933898G>T | CA363497206 | C2 | c.462G>T (p.Val154=) c.279G>T (p.Val93=) c.648G>T (p.Val216=) c.143G>T (p.Trp48Leu) c.243G>T (p.Val81=) n.451G>T n.586G>T c.252G>T (p.Val84=) c.242G>T c.111+115G>T (n.111+115G>T) c.443-3421G>T (n.443-3421G>T) c.*361G>T (n.*361G>T) c.225G>T (p.Val75=) c.561G>T (p.Val187=) | |
6 | g.31933899G>A | CA363497209 | C2 | c.463G>A (p.Ala155Thr) c.280G>A (p.Ala94Thr) c.649G>A (p.Ala217Thr) c.144G>A (p.Trp48Ter) c.244G>A (p.Ala82Thr) n.452G>A n.587G>A c.253G>A (p.Ala85Thr) c.243G>A c.111+116G>A (n.111+116G>A) c.443-3420G>A (n.443-3420G>A) c.*362G>A (n.*362G>A) c.226G>A (p.Ala76Thr) c.562G>A (p.Ala188Thr) | |
6 | g.31933899G>C | CA363497210 | C2 | c.463G>C (p.Ala155Pro) c.280G>C (p.Ala94Pro) c.649G>C (p.Ala217Pro) c.144G>C (p.Trp48Cys) c.244G>C (p.Ala82Pro) n.452G>C n.587G>C c.253G>C (p.Ala85Pro) c.243G>C c.111+116G>C (n.111+116G>C) c.443-3420G>C (n.443-3420G>C) c.*362G>C (n.*362G>C) c.226G>C (p.Ala76Pro) c.562G>C (p.Ala188Pro) | |
6 | g.31933899G>T | CA363497212 | C2 | c.463G>T (p.Ala155Ser) c.280G>T (p.Ala94Ser) c.649G>T (p.Ala217Ser) c.144G>T (p.Trp48Cys) c.244G>T (p.Ala82Ser) n.452G>T n.587G>T c.253G>T (p.Ala85Ser) c.243G>T c.111+116G>T (n.111+116G>T) c.443-3420G>T (n.443-3420G>T) c.*362G>T (n.*362G>T) c.226G>T (p.Ala76Ser) c.562G>T (p.Ala188Ser) | |
6 | g.31933900C>A | CA363366145 | C2 | c.464C>A (p.Ala155Asp) c.281C>A (p.Ala94Asp) c.650C>A (p.Ala217Asp) c.145C>A (p.Pro49Thr) c.245C>A (p.Ala82Asp) n.453C>A n.588C>A c.254C>A (p.Ala85Asp) c.244C>A c.111+117C>A (n.111+117C>A) c.443-3419C>A (n.443-3419C>A) c.*363C>A (n.*363C>A) c.227C>A (p.Ala76Asp) c.563C>A (p.Ala188Asp) | |
6 | g.31933900C>G | CA363366156 | C2 | c.464C>G (p.Ala155Gly) c.281C>G (p.Ala94Gly) c.650C>G (p.Ala217Gly) c.145C>G (p.Pro49Ala) c.245C>G (p.Ala82Gly) n.453C>G n.588C>G c.254C>G (p.Ala85Gly) c.244C>G c.111+117C>G (n.111+117C>G) c.443-3419C>G (n.443-3419C>G) c.*363C>G (n.*363C>G) c.227C>G (p.Ala76Gly) c.563C>G (p.Ala188Gly) | |
6 | g.31933900C>T | CA363366163 | C2 | c.464C>T (p.Ala155Val) c.281C>T (p.Ala94Val) c.650C>T (p.Ala217Val) c.145C>T (p.Pro49Ser) c.245C>T (p.Ala82Val) n.453C>T n.588C>T c.254C>T (p.Ala85Val) c.244C>T c.111+117C>T (n.111+117C>T) c.443-3419C>T (n.443-3419C>T) c.*363C>T (n.*363C>T) c.227C>T (p.Ala76Val) c.563C>T (p.Ala188Val) | gnomAD v4 |
6 | g.31933901C>A | CA363366188 | C2 | c.465C>A (p.Ala155=) c.282C>A (p.Ala94=) c.651C>A (p.Ala217=) c.146C>A (p.Pro49His) c.246C>A (p.Ala82=) n.454C>A n.589C>A c.255C>A (p.Ala85=) c.245C>A c.111+118C>A (n.111+118C>A) c.443-3418C>A (n.443-3418C>A) c.*364C>A (n.*364C>A) c.228C>A (p.Ala76=) c.564C>A (p.Ala188=) | |
6 | g.31933901C= | CA1619369909 | C2 | c.465C= (p.Ala155=) c.282C= (p.Ala94=) c.651C= (p.Ala217=) c.146C= (p.Pro49=) c.246C= (p.Ala82=) n.454C= n.589C= c.255C= (p.Ala85=) c.245C= c.111+118C= (n.111+118C=) c.443-3418C= (n.443-3418C=) c.*364C= (n.*364C=) c.228C= (p.Ala76=) c.564C= (p.Ala188=) | |
6 | g.31933901C>G | CA363366189 | C2 | c.465C>G (p.Ala155=) c.282C>G (p.Ala94=) c.651C>G (p.Ala217=) c.146C>G (p.Pro49Arg) c.246C>G (p.Ala82=) n.454C>G n.589C>G c.255C>G (p.Ala85=) c.245C>G c.111+118C>G (n.111+118C>G) c.443-3418C>G (n.443-3418C>G) c.*364C>G (n.*364C>G) c.228C>G (p.Ala76=) c.564C>G (p.Ala188=) | |
6 | g.31933901C>T | CA363366190 | C2 | c.465C>T (p.Ala155=) c.282C>T (p.Ala94=) c.651C>T (p.Ala217=) c.146C>T (p.Pro49Leu) c.246C>T (p.Ala82=) n.454C>T n.589C>T c.255C>T (p.Ala85=) c.245C>T c.111+118C>T (n.111+118C>T) c.443-3418C>T (n.443-3418C>T) c.*364C>T (n.*364C>T) c.228C>T (p.Ala76=) c.564C>T (p.Ala188=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933902C>A | CA363366201 | C2 | c.466C>A (p.Pro156Thr) c.283C>A (p.Pro95Thr) c.652C>A (p.Pro218Thr) c.147C>A (p.Pro49=) c.247C>A (p.Pro83Thr) n.455C>A n.590C>A c.256C>A (p.Pro86Thr) c.246C>A c.111+119C>A (n.111+119C>A) c.443-3417C>A (n.443-3417C>A) c.*365C>A (n.*365C>A) c.229C>A (p.Pro77Thr) c.565C>A (p.Pro189Thr) | gnomAD v4 |
6 | g.31933902C>G | CA363366191 | C2 | c.466C>G (p.Pro156Ala) c.283C>G (p.Pro95Ala) c.652C>G (p.Pro218Ala) c.147C>G (p.Pro49=) c.247C>G (p.Pro83Ala) n.455C>G n.590C>G c.256C>G (p.Pro86Ala) c.246C>G c.111+119C>G (n.111+119C>G) c.443-3417C>G (n.443-3417C>G) c.*365C>G (n.*365C>G) c.229C>G (p.Pro77Ala) c.565C>G (p.Pro189Ala) | |
6 | g.31933902C>T | CA363366195 | C2 | c.466C>T (p.Pro156Ser) c.283C>T (p.Pro95Ser) c.652C>T (p.Pro218Ser) c.147C>T (p.Pro49=) c.247C>T (p.Pro83Ser) n.455C>T n.590C>T c.256C>T (p.Pro86Ser) c.246C>T c.111+119C>T (n.111+119C>T) c.443-3417C>T (n.443-3417C>T) c.*365C>T (n.*365C>T) c.229C>T (p.Pro77Ser) c.565C>T (p.Pro189Ser) | |
6 | g.31933903C>A | CA363366204 | C2 | c.467C>A (p.Pro156His) c.284C>A (p.Pro95His) c.653C>A (p.Pro218His) c.148C>A (p.Leu50Met) c.248C>A (p.Pro83His) n.456C>A n.591C>A c.257C>A (p.Pro86His) c.247C>A c.111+120C>A (n.111+120C>A) c.443-3416C>A (n.443-3416C>A) c.*366C>A (n.*366C>A) c.230C>A (p.Pro77His) c.566C>A (p.Pro189His) | gnomAD v4 |
6 | g.31933903C= | CA1619369910 | C2 | c.467C= (p.Pro156=) c.284C= (p.Pro95=) c.653C= (p.Pro218=) c.148C= (p.Leu50=) c.248C= (p.Pro83=) n.456C= n.591C= c.257C= (p.Pro86=) c.247C= c.111+120C= (n.111+120C=) c.443-3416C= (n.443-3416C=) c.*366C= (n.*366C=) c.230C= (p.Pro77=) c.566C= (p.Pro189=) | |
6 | g.31933903C>G | CA363366206 | C2 | c.467C>G (p.Pro156Arg) c.284C>G (p.Pro95Arg) c.653C>G (p.Pro218Arg) c.148C>G (p.Leu50Val) c.248C>G (p.Pro83Arg) n.456C>G n.591C>G c.257C>G (p.Pro86Arg) c.247C>G c.111+120C>G (n.111+120C>G) c.443-3416C>G (n.443-3416C>G) c.*366C>G (n.*366C>G) c.230C>G (p.Pro77Arg) c.566C>G (p.Pro189Arg) | dbSNP |
6 | g.31933903C>T | CA363366205 | C2 | c.467C>T (p.Pro156Leu) c.284C>T (p.Pro95Leu) c.653C>T (p.Pro218Leu) c.148C>T (p.Leu50=) c.248C>T (p.Pro83Leu) n.456C>T n.591C>T c.257C>T (p.Pro86Leu) c.247C>T c.111+120C>T (n.111+120C>T) c.443-3416C>T (n.443-3416C>T) c.*366C>T (n.*366C>T) c.230C>T (p.Pro77Leu) c.566C>T (p.Pro189Leu) | |
6 | g.31933904T>A | CA363366210 | C2 | c.468T>A (p.Pro156=) c.285T>A (p.Pro95=) c.654T>A (p.Pro218=) c.149T>A (p.Leu50Gln) c.249T>A (p.Pro83=) n.457T>A n.592T>A c.258T>A (p.Pro86=) c.248T>A c.111+121T>A (n.111+121T>A) c.443-3415T>A (n.443-3415T>A) c.*367T>A (n.*367T>A) c.231T>A (p.Pro77=) c.567T>A (p.Pro189=) | |
6 | g.31933904T>C | CA363366216 | C2 | c.468T>C (p.Pro156=) c.285T>C (p.Pro95=) c.654T>C (p.Pro218=) c.149T>C (p.Leu50Pro) c.249T>C (p.Pro83=) n.457T>C n.592T>C c.258T>C (p.Pro86=) c.248T>C c.111+121T>C (n.111+121T>C) c.443-3415T>C (n.443-3415T>C) c.*367T>C (n.*367T>C) c.231T>C (p.Pro77=) c.567T>C (p.Pro189=) | |
6 | g.31933904T>G | CA363366218 | C2 | c.468T>G (p.Pro156=) c.285T>G (p.Pro95=) c.654T>G (p.Pro218=) c.149T>G (p.Leu50Arg) c.249T>G (p.Pro83=) n.457T>G n.592T>G c.258T>G (p.Pro86=) c.248T>G c.111+121T>G (n.111+121T>G) c.443-3415T>G (n.443-3415T>G) c.*367T>G (n.*367T>G) c.231T>G (p.Pro77=) c.567T>G (p.Pro189=) | COSMIC |
6 | g.31933905G>A | CA363366223 | C2 | c.469G>A (p.Ala157Thr) c.286G>A (p.Ala96Thr) c.655G>A (p.Ala219Thr) c.150G>A (p.Leu50=) c.250G>A (p.Ala84Thr) n.458G>A n.593G>A c.259G>A (p.Ala87Thr) c.249G>A c.111+122G>A (n.111+122G>A) c.443-3414G>A (n.443-3414G>A) c.*368G>A (n.*368G>A) c.232G>A (p.Ala78Thr) c.568G>A (p.Ala190Thr) | gnomAD v4 |
6 | g.31933905G>C | CA363366232 | C2 | c.469G>C (p.Ala157Pro) c.286G>C (p.Ala96Pro) c.655G>C (p.Ala219Pro) c.150G>C (p.Leu50=) c.250G>C (p.Ala84Pro) n.458G>C n.593G>C c.259G>C (p.Ala87Pro) c.249G>C c.111+122G>C (n.111+122G>C) c.443-3414G>C (n.443-3414G>C) c.*368G>C (n.*368G>C) c.232G>C (p.Ala78Pro) c.568G>C (p.Ala190Pro) | |
6 | g.31933905G>T | CA363366235 | C2 | c.469G>T (p.Ala157Ser) c.286G>T (p.Ala96Ser) c.655G>T (p.Ala219Ser) c.150G>T (p.Leu50=) c.250G>T (p.Ala84Ser) n.458G>T n.593G>T c.259G>T (p.Ala87Ser) c.249G>T c.111+122G>T (n.111+122G>T) c.443-3414G>T (n.443-3414G>T) c.*368G>T (n.*368G>T) c.232G>T (p.Ala78Ser) c.568G>T (p.Ala190Ser) | |
6 | g.31933906C>A | CA3727460 | C2 | c.470C>A (p.Ala157Asp) c.287C>A (p.Ala96Asp) c.656C>A (p.Ala219Asp) c.151C>A (p.Pro51Thr) c.251C>A (p.Ala84Asp) n.459C>A n.594C>A c.260C>A (p.Ala87Asp) c.250C>A c.111+123C>A (n.111+123C>A) c.443-3413C>A (n.443-3413C>A) c.*369C>A (n.*369C>A) c.233C>A (p.Ala78Asp) c.569C>A (p.Ala190Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933906C= | CA1619369911 | C2 | c.470C= (p.Ala157=) c.287C= (p.Ala96=) c.656C= (p.Ala219=) c.151C= (p.Pro51=) c.251C= (p.Ala84=) n.459C= n.594C= c.260C= (p.Ala87=) c.250C= c.111+123C= (n.111+123C=) c.443-3413C= (n.443-3413C=) c.*369C= (n.*369C=) c.233C= (p.Ala78=) c.569C= (p.Ala190=) | |
6 | g.31933906C>G | CA363366236 | C2 | c.470C>G (p.Ala157Gly) c.287C>G (p.Ala96Gly) c.656C>G (p.Ala219Gly) c.151C>G (p.Pro51Ala) c.251C>G (p.Ala84Gly) n.459C>G n.594C>G c.260C>G (p.Ala87Gly) c.250C>G c.111+123C>G (n.111+123C>G) c.443-3413C>G (n.443-3413C>G) c.*369C>G (n.*369C>G) c.233C>G (p.Ala78Gly) c.569C>G (p.Ala190Gly) | |
6 | g.31933906C>T | CA363366237 | C2 | c.470C>T (p.Ala157Val) c.287C>T (p.Ala96Val) c.656C>T (p.Ala219Val) c.151C>T (p.Pro51Ser) c.251C>T (p.Ala84Val) n.459C>T n.594C>T c.260C>T (p.Ala87Val) c.250C>T c.111+123C>T (n.111+123C>T) c.443-3413C>T (n.443-3413C>T) c.*369C>T (n.*369C>T) c.233C>T (p.Ala78Val) c.569C>T (p.Ala190Val) | gnomAD v4 |
6 | g.31933907C>A | CA363366239 | C2 | c.471C>A (p.Ala157=) c.288C>A (p.Ala96=) c.657C>A (p.Ala219=) c.152C>A (p.Pro51His) c.252C>A (p.Ala84=) n.460C>A n.595C>A c.261C>A (p.Ala87=) c.251C>A c.111+124C>A (n.111+124C>A) c.443-3412C>A (n.443-3412C>A) c.*370C>A (n.*370C>A) c.234C>A (p.Ala78=) c.570C>A (p.Ala190=) | |
6 | g.31933907C>G | CA363366241 | C2 | c.471C>G (p.Ala157=) c.288C>G (p.Ala96=) c.657C>G (p.Ala219=) c.152C>G (p.Pro51Arg) c.252C>G (p.Ala84=) n.460C>G n.595C>G c.261C>G (p.Ala87=) c.251C>G c.111+124C>G (n.111+124C>G) c.443-3412C>G (n.443-3412C>G) c.*370C>G (n.*370C>G) c.234C>G (p.Ala78=) c.570C>G (p.Ala190=) | |
6 | g.31933907C>T | CA363366244 | C2 | c.471C>T (p.Ala157=) c.288C>T (p.Ala96=) c.657C>T (p.Ala219=) c.152C>T (p.Pro51Leu) c.252C>T (p.Ala84=) n.460C>T n.595C>T c.261C>T (p.Ala87=) c.251C>T c.111+124C>T (n.111+124C>T) c.443-3412C>T (n.443-3412C>T) c.*370C>T (n.*370C>T) c.234C>T (p.Ala78=) c.570C>T (p.Ala190=) | gnomAD v4 |
6 | g.31933908C>A | CA363366246 | C2 | c.472C>A (p.Leu158Met) c.289C>A (p.Leu97Met) c.658C>A (p.Leu220Met) c.153C>A (p.Pro51=) c.253C>A (p.Leu85Met) n.461C>A n.596C>A c.262C>A (p.Leu88Met) c.252C>A c.111+125C>A (n.111+125C>A) c.443-3411C>A (n.443-3411C>A) c.*371C>A (n.*371C>A) c.235C>A (p.Leu79Met) c.571C>A (p.Leu191Met) | gnomAD v4 |
6 | g.31933908C>G | CA363366247 | C2 | c.472C>G (p.Leu158Val) c.289C>G (p.Leu97Val) c.658C>G (p.Leu220Val) c.153C>G (p.Pro51=) c.253C>G (p.Leu85Val) n.461C>G n.596C>G c.262C>G (p.Leu88Val) c.252C>G c.111+125C>G (n.111+125C>G) c.443-3411C>G (n.443-3411C>G) c.*371C>G (n.*371C>G) c.235C>G (p.Leu79Val) c.571C>G (p.Leu191Val) | |
6 | g.31933908C>T | CA449811373 | C2 | c.472C>T (p.Leu158=) c.289C>T (p.Leu97=) c.658C>T (p.Leu220=) c.153C>T (p.Pro51=) c.253C>T (p.Leu85=) n.461C>T n.596C>T c.262C>T (p.Leu88=) c.252C>T c.111+125C>T (n.111+125C>T) c.443-3411C>T (n.443-3411C>T) c.*371C>T (n.*371C>T) c.235C>T (p.Leu79=) c.571C>T (p.Leu191=) | |
6 | g.31933909T>A | CA363366248 | C2 | c.473T>A (p.Leu158Gln) c.290T>A (p.Leu97Gln) c.659T>A (p.Leu220Gln) c.154T>A (p.Trp52Arg) c.254T>A (p.Leu85Gln) n.462T>A n.597T>A c.263T>A (p.Leu88Gln) c.253T>A c.111+126T>A (n.111+126T>A) c.443-3410T>A (n.443-3410T>A) c.*372T>A (n.*372T>A) c.236T>A (p.Leu79Gln) c.572T>A (p.Leu191Gln) | |
6 | g.31933909T>C | CA363366249 | C2 | c.473T>C (p.Leu158Pro) c.290T>C (p.Leu97Pro) c.659T>C (p.Leu220Pro) c.154T>C (p.Trp52Arg) c.254T>C (p.Leu85Pro) n.462T>C n.597T>C c.263T>C (p.Leu88Pro) c.253T>C c.111+126T>C (n.111+126T>C) c.443-3410T>C (n.443-3410T>C) c.*372T>C (n.*372T>C) c.236T>C (p.Leu79Pro) c.572T>C (p.Leu191Pro) | |
6 | g.31933909T>G | CA363366253 | C2 | c.473T>G (p.Leu158Arg) c.290T>G (p.Leu97Arg) c.659T>G (p.Leu220Arg) c.154T>G (p.Trp52Gly) c.254T>G (p.Leu85Arg) n.462T>G n.597T>G c.263T>G (p.Leu88Arg) c.253T>G c.111+126T>G (n.111+126T>G) c.443-3410T>G (n.443-3410T>G) c.*372T>G (n.*372T>G) c.236T>G (p.Leu79Arg) c.572T>G (p.Leu191Arg) | |
6 | g.31933910G>A | CA363366259 | C2 | c.474G>A (p.Leu158=) c.291G>A (p.Leu97=) c.660G>A (p.Leu220=) c.155G>A (p.Trp52Ter) c.255G>A (p.Leu85=) n.463G>A n.598G>A c.264G>A (p.Leu88=) c.254G>A c.111+127G>A (n.111+127G>A) c.443-3409G>A (n.443-3409G>A) c.*373G>A (n.*373G>A) c.237G>A (p.Leu79=) c.573G>A (p.Leu191=) | |
6 | g.31933910G>C | CA363366261 | C2 | c.474G>C (p.Leu158=) c.291G>C (p.Leu97=) c.660G>C (p.Leu220=) c.155G>C (p.Trp52Ser) c.255G>C (p.Leu85=) n.463G>C n.598G>C c.264G>C (p.Leu88=) c.254G>C c.111+127G>C (n.111+127G>C) c.443-3409G>C (n.443-3409G>C) c.*373G>C (n.*373G>C) c.237G>C (p.Leu79=) c.573G>C (p.Leu191=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933910G= | CA1619369912 | C2 | c.474G= (p.Leu158=) c.291G= (p.Leu97=) c.660G= (p.Leu220=) c.155G= (p.Trp52=) c.255G= (p.Leu85=) n.463G= n.598G= c.264G= (p.Leu88=) c.254G= c.111+127G= (n.111+127G=) c.443-3409G= (n.443-3409G=) c.*373G= (n.*373G=) c.237G= (p.Leu79=) c.573G= (p.Leu191=) | |
6 | g.31933910G>T | CA363366291 | C2 | c.474G>T (p.Leu158=) c.291G>T (p.Leu97=) c.660G>T (p.Leu220=) c.155G>T (p.Trp52Leu) c.255G>T (p.Leu85=) n.463G>T n.598G>T c.264G>T (p.Leu88=) c.254G>T c.111+127G>T (n.111+127G>T) c.443-3409G>T (n.443-3409G>T) c.*373G>T (n.*373G>T) c.237G>T (p.Leu79=) c.573G>T (p.Leu191=) | |
6 | g.31933911G>A | CA3727461 | C2 | c.475G>A (p.Gly159Ser) c.292G>A (p.Gly98Ser) c.661G>A (p.Gly221Ser) c.156G>A (p.Trp52Ter) c.256G>A (p.Gly86Ser) n.464G>A n.599G>A c.265G>A (p.Gly89Ser) c.255G>A c.111+128G>A (n.111+128G>A) c.443-3408G>A (n.443-3408G>A) c.*374G>A (n.*374G>A) c.238G>A (p.Gly80Ser) c.574G>A (p.Gly192Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933911G>C | CA363366297 | C2 | c.475G>C (p.Gly159Arg) c.292G>C (p.Gly98Arg) c.661G>C (p.Gly221Arg) c.156G>C (p.Trp52Cys) c.256G>C (p.Gly86Arg) n.464G>C n.599G>C c.265G>C (p.Gly89Arg) c.255G>C c.111+128G>C (n.111+128G>C) c.443-3408G>C (n.443-3408G>C) c.*374G>C (n.*374G>C) c.238G>C (p.Gly80Arg) c.574G>C (p.Gly192Arg) | |
6 | g.31933911G= | CA1619369913 | C2 | c.475G= (p.Gly159=) c.292G= (p.Gly98=) c.661G= (p.Gly221=) c.156G= (p.Trp52=) c.256G= (p.Gly86=) n.464G= n.599G= c.265G= (p.Gly89=) c.255G= c.111+128G= (n.111+128G=) c.443-3408G= (n.443-3408G=) c.*374G= (n.*374G=) c.238G= (p.Gly80=) c.574G= (p.Gly192=) | |
6 | g.31933911G>T | CA363366298 | C2 | c.475G>T (p.Gly159Cys) c.292G>T (p.Gly98Cys) c.661G>T (p.Gly221Cys) c.156G>T (p.Trp52Cys) c.256G>T (p.Gly86Cys) n.464G>T n.599G>T c.265G>T (p.Gly89Cys) c.255G>T c.111+128G>T (n.111+128G>T) c.443-3408G>T (n.443-3408G>T) c.*374G>T (n.*374G>T) c.238G>T (p.Gly80Cys) c.574G>T (p.Gly192Cys) | |
6 | g.31933912G>A | CA363366300 | C2 | c.476G>A (p.Gly159Asp) c.293G>A (p.Gly98Asp) c.662G>A (p.Gly221Asp) c.157G>A (p.Ala53Thr) c.257G>A (p.Gly86Asp) n.465G>A n.600G>A c.266G>A (p.Gly89Asp) c.256G>A c.111+129G>A (n.111+129G>A) c.443-3407G>A (n.443-3407G>A) c.*375G>A (n.*375G>A) c.239G>A (p.Gly80Asp) c.575G>A (p.Gly192Asp) | |
6 | g.31933912G>C | CA363366302 | C2 | c.476G>C (p.Gly159Ala) c.293G>C (p.Gly98Ala) c.662G>C (p.Gly221Ala) c.157G>C (p.Ala53Pro) c.257G>C (p.Gly86Ala) n.465G>C n.600G>C c.266G>C (p.Gly89Ala) c.256G>C c.111+129G>C (n.111+129G>C) c.443-3407G>C (n.443-3407G>C) c.*375G>C (n.*375G>C) c.239G>C (p.Gly80Ala) c.575G>C (p.Gly192Ala) | |
6 | g.31933912G>T | CA363366306 | C2 | c.476G>T (p.Gly159Val) c.293G>T (p.Gly98Val) c.662G>T (p.Gly221Val) c.157G>T (p.Ala53Ser) c.257G>T (p.Gly86Val) n.465G>T n.600G>T c.266G>T (p.Gly89Val) c.256G>T c.111+129G>T (n.111+129G>T) c.443-3407G>T (n.443-3407G>T) c.*375G>T (n.*375G>T) c.239G>T (p.Gly80Val) c.575G>T (p.Gly192Val) | |
6 | g.31933913C>A | CA363366315 | C2 | c.477C>A (p.Gly159=) c.294C>A (p.Gly98=) c.663C>A (p.Gly221=) c.158C>A (p.Ala53Glu) c.258C>A (p.Gly86=) n.466C>A n.601C>A c.267C>A (p.Gly89=) c.257C>A c.111+130C>A (n.111+130C>A) c.443-3406C>A (n.443-3406C>A) c.*376C>A (n.*376C>A) c.240C>A (p.Gly80=) c.576C>A (p.Gly192=) | |
6 | g.31933913C>G | CA363366317 | C2 | c.477C>G (p.Gly159=) c.294C>G (p.Gly98=) c.663C>G (p.Gly221=) c.158C>G (p.Ala53Gly) c.258C>G (p.Gly86=) n.466C>G n.601C>G c.267C>G (p.Gly89=) c.257C>G c.111+130C>G (n.111+130C>G) c.443-3406C>G (n.443-3406C>G) c.*376C>G (n.*376C>G) c.240C>G (p.Gly80=) c.576C>G (p.Gly192=) | |
6 | g.31933913C>T | CA363366316 | C2 | c.477C>T (p.Gly159=) c.294C>T (p.Gly98=) c.663C>T (p.Gly221=) c.158C>T (p.Ala53Val) c.258C>T (p.Gly86=) n.466C>T n.601C>T c.267C>T (p.Gly89=) c.257C>T c.111+130C>T (n.111+130C>T) c.443-3406C>T (n.443-3406C>T) c.*376C>T (n.*376C>T) c.240C>T (p.Gly80=) c.576C>T (p.Gly192=) | |
6 | g.31933914A= | CA1619369914 | C2 | c.478A= (p.Thr160=) c.295A= (p.Thr99=) c.664A= (p.Thr222=) c.159A= (p.Ala53=) c.259A= (p.Thr87=) n.467A= n.602A= c.268A= (p.Thr90=) c.258A= c.111+131A= (n.111+131A=) c.443-3405A= (n.443-3405A=) c.*377A= (n.*377A=) c.241A= (p.Thr81=) c.577A= (p.Thr193=) | |
6 | g.31933914A>C | CA363366318 | C2 | c.478A>C (p.Thr160Pro) c.295A>C (p.Thr99Pro) c.664A>C (p.Thr222Pro) c.159A>C (p.Ala53=) c.259A>C (p.Thr87Pro) n.467A>C n.602A>C c.268A>C (p.Thr90Pro) c.258A>C c.111+131A>C (n.111+131A>C) c.443-3405A>C (n.443-3405A>C) c.*377A>C (n.*377A>C) c.241A>C (p.Thr81Pro) c.577A>C (p.Thr193Pro) | gnomAD v4 |
6 | g.31933914A>G | CA3727462 | C2 | c.478A>G (p.Thr160Ala) c.295A>G (p.Thr99Ala) c.664A>G (p.Thr222Ala) c.159A>G (p.Ala53=) c.259A>G (p.Thr87Ala) n.467A>G n.602A>G c.268A>G (p.Thr90Ala) c.258A>G c.111+131A>G (n.111+131A>G) c.443-3405A>G (n.443-3405A>G) c.*377A>G (n.*377A>G) c.241A>G (p.Thr81Ala) c.577A>G (p.Thr193Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933914A>T | CA363366322 | C2 | c.478A>T (p.Thr160Ser) c.295A>T (p.Thr99Ser) c.664A>T (p.Thr222Ser) c.159A>T (p.Ala53=) c.259A>T (p.Thr87Ser) n.467A>T n.602A>T c.268A>T (p.Thr90Ser) c.258A>T c.111+131A>T (n.111+131A>T) c.443-3405A>T (n.443-3405A>T) c.*377A>T (n.*377A>T) c.241A>T (p.Thr81Ser) c.577A>T (p.Thr193Ser) | |
6 | g.31933915C>A | CA363366323 | C2 | c.479C>A (p.Thr160Asn) c.296C>A (p.Thr99Asn) c.665C>A (p.Thr222Asn) c.160C>A (p.Leu54Ile) c.260C>A (p.Thr87Asn) n.468C>A n.603C>A c.269C>A (p.Thr90Asn) c.259C>A c.111+132C>A (n.111+132C>A) c.443-3404C>A (n.443-3404C>A) c.*378C>A (n.*378C>A) c.242C>A (p.Thr81Asn) c.578C>A (p.Thr193Asn) | |
6 | g.31933915C= | CA1619369915 | C2 | c.479C= (p.Thr160=) c.296C= (p.Thr99=) c.665C= (p.Thr222=) c.160C= (p.Leu54=) c.260C= (p.Thr87=) n.468C= n.603C= c.269C= (p.Thr90=) c.259C= c.111+132C= (n.111+132C=) c.443-3404C= (n.443-3404C=) c.*378C= (n.*378C=) c.242C= (p.Thr81=) c.578C= (p.Thr193=) | |
6 | g.31933915C>G | CA363366324 | C2 | c.479C>G (p.Thr160Ser) c.296C>G (p.Thr99Ser) c.665C>G (p.Thr222Ser) c.160C>G (p.Leu54Val) c.260C>G (p.Thr87Ser) n.468C>G n.603C>G c.269C>G (p.Thr90Ser) c.259C>G c.111+132C>G (n.111+132C>G) c.443-3404C>G (n.443-3404C>G) c.*378C>G (n.*378C>G) c.242C>G (p.Thr81Ser) c.578C>G (p.Thr193Ser) | |
6 | g.31933915C>T | CA3727463 | C2 | c.479C>T (p.Thr160Ile) c.296C>T (p.Thr99Ile) c.665C>T (p.Thr222Ile) c.160C>T (p.Leu54Phe) c.260C>T (p.Thr87Ile) n.468C>T n.603C>T c.269C>T (p.Thr90Ile) c.259C>T c.111+132C>T (n.111+132C>T) c.443-3404C>T (n.443-3404C>T) c.*378C>T (n.*378C>T) c.242C>T (p.Thr81Ile) c.578C>T (p.Thr193Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933916T>A | CA363366329 | C2 | c.480T>A (p.Thr160=) c.297T>A (p.Thr99=) c.666T>A (p.Thr222=) c.161T>A (p.Leu54His) c.261T>A (p.Thr87=) n.469T>A n.604T>A c.270T>A (p.Thr90=) c.260T>A c.111+133T>A (n.111+133T>A) c.443-3403T>A (n.443-3403T>A) c.*379T>A (n.*379T>A) c.243T>A (p.Thr81=) c.579T>A (p.Thr193=) | |
6 | g.31933916T>C | CA363366331 | C2 | c.480T>C (p.Thr160=) c.297T>C (p.Thr99=) c.666T>C (p.Thr222=) c.161T>C (p.Leu54Pro) c.261T>C (p.Thr87=) n.469T>C n.604T>C c.270T>C (p.Thr90=) c.260T>C c.111+133T>C (n.111+133T>C) c.443-3403T>C (n.443-3403T>C) c.*379T>C (n.*379T>C) c.243T>C (p.Thr81=) c.579T>C (p.Thr193=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933916T>G | CA363366332 | C2 | c.480T>G (p.Thr160=) c.297T>G (p.Thr99=) c.666T>G (p.Thr222=) c.161T>G (p.Leu54Arg) c.261T>G (p.Thr87=) n.469T>G n.604T>G c.270T>G (p.Thr90=) c.260T>G c.111+133T>G (n.111+133T>G) c.443-3403T>G (n.443-3403T>G) c.*379T>G (n.*379T>G) c.243T>G (p.Thr81=) c.579T>G (p.Thr193=) | |
6 | g.31933916T= | CA1619369916 | C2 | c.480T= (p.Thr160=) c.297T= (p.Thr99=) c.666T= (p.Thr222=) c.161T= (p.Leu54=) c.261T= (p.Thr87=) n.469T= n.604T= c.270T= (p.Thr90=) c.260T= c.111+133T= (n.111+133T=) c.443-3403T= (n.443-3403T=) c.*379T= (n.*379T=) c.243T= (p.Thr81=) c.579T= (p.Thr193=) | |
6 | g.31933917T>A | CA363366338 | C2 | c.481T>A (p.Ser161Thr) c.298T>A (p.Ser100Thr) c.667T>A (p.Ser223Thr) c.162T>A (p.Leu54=) c.262T>A (p.Ser88Thr) n.470T>A n.605T>A c.271T>A (p.Ser91Thr) c.261T>A c.111+134T>A (n.111+134T>A) c.443-3402T>A (n.443-3402T>A) c.*380T>A (n.*380T>A) c.244T>A (p.Ser82Thr) c.580T>A (p.Ser194Thr) | |
6 | g.31933917T>C | CA363366341 | C2 | c.481T>C (p.Ser161Pro) c.298T>C (p.Ser100Pro) c.667T>C (p.Ser223Pro) c.162T>C (p.Leu54=) c.262T>C (p.Ser88Pro) n.470T>C n.605T>C c.271T>C (p.Ser91Pro) c.261T>C c.111+134T>C (n.111+134T>C) c.443-3402T>C (n.443-3402T>C) c.*380T>C (n.*380T>C) c.244T>C (p.Ser82Pro) c.580T>C (p.Ser194Pro) | |
6 | g.31933917T>G | CA363366345 | C2 | c.481T>G (p.Ser161Ala) c.298T>G (p.Ser100Ala) c.667T>G (p.Ser223Ala) c.162T>G (p.Leu54=) c.262T>G (p.Ser88Ala) n.470T>G n.605T>G c.271T>G (p.Ser91Ala) c.261T>G c.111+134T>G (n.111+134T>G) c.443-3402T>G (n.443-3402T>G) c.*380T>G (n.*380T>G) c.244T>G (p.Ser82Ala) c.580T>G (p.Ser194Ala) | |
6 | g.31933918C>A | CA363366351 | C2 | c.482C>A (p.Ser161Tyr) c.299C>A (p.Ser100Tyr) c.668C>A (p.Ser223Tyr) c.163C>A (p.Pro55Thr) c.263C>A (p.Ser88Tyr) n.471C>A n.606C>A c.272C>A (p.Ser91Tyr) c.262C>A c.111+135C>A (n.111+135C>A) c.443-3401C>A (n.443-3401C>A) c.*381C>A (n.*381C>A) c.245C>A (p.Ser82Tyr) c.581C>A (p.Ser194Tyr) | |
6 | g.31933918C>G | CA363366353 | C2 | c.482C>G (p.Ser161Cys) c.299C>G (p.Ser100Cys) c.668C>G (p.Ser223Cys) c.163C>G (p.Pro55Ala) c.263C>G (p.Ser88Cys) n.471C>G n.606C>G c.272C>G (p.Ser91Cys) c.262C>G c.111+135C>G (n.111+135C>G) c.443-3401C>G (n.443-3401C>G) c.*381C>G (n.*381C>G) c.245C>G (p.Ser82Cys) c.581C>G (p.Ser194Cys) | |
6 | g.31933918C>T | CA363366358 | C2 | c.482C>T (p.Ser161Phe) c.299C>T (p.Ser100Phe) c.668C>T (p.Ser223Phe) c.163C>T (p.Pro55Ser) c.263C>T (p.Ser88Phe) n.471C>T n.606C>T c.272C>T (p.Ser91Phe) c.262C>T c.111+135C>T (n.111+135C>T) c.443-3401C>T (n.443-3401C>T) c.*381C>T (n.*381C>T) c.245C>T (p.Ser82Phe) c.581C>T (p.Ser194Phe) | COSMIC |
6 | g.31933919C>A | CA363366359 | C2 | c.483C>A (p.Ser161=) c.300C>A (p.Ser100=) c.669C>A (p.Ser223=) c.164C>A (p.Pro55His) c.264C>A (p.Ser88=) n.472C>A n.607C>A c.273C>A (p.Ser91=) c.263C>A c.111+136C>A (n.111+136C>A) c.443-3400C>A (n.443-3400C>A) c.*382C>A (n.*382C>A) c.246C>A (p.Ser82=) c.582C>A (p.Ser194=) | |
6 | g.31933919C>G | CA363366360 | C2 | c.483C>G (p.Ser161=) c.300C>G (p.Ser100=) c.669C>G (p.Ser223=) c.164C>G (p.Pro55Arg) c.264C>G (p.Ser88=) n.472C>G n.607C>G c.273C>G (p.Ser91=) c.263C>G c.111+136C>G (n.111+136C>G) c.443-3400C>G (n.443-3400C>G) c.*382C>G (n.*382C>G) c.246C>G (p.Ser82=) c.582C>G (p.Ser194=) | |
6 | g.31933919C>T | CA363366361 | C2 | c.483C>T (p.Ser161=) c.300C>T (p.Ser100=) c.669C>T (p.Ser223=) c.164C>T (p.Pro55Leu) c.264C>T (p.Ser88=) n.472C>T n.607C>T c.273C>T (p.Ser91=) c.263C>T c.111+136C>T (n.111+136C>T) c.443-3400C>T (n.443-3400C>T) c.*382C>T (n.*382C>T) c.246C>T (p.Ser82=) c.582C>T (p.Ser194=) | gnomAD v4 |
6 | g.31933920T>A | CA363366362 | C2 | c.484T>A (p.Phe162Ile) c.301T>A (p.Phe101Ile) c.670T>A (p.Phe224Ile) c.165T>A (p.Pro55=) c.265T>A (p.Phe89Ile) n.473T>A n.608T>A c.274T>A (p.Phe92Ile) c.264T>A c.111+137T>A (n.111+137T>A) c.443-3399T>A (n.443-3399T>A) c.*383T>A (n.*383T>A) c.247T>A (p.Phe83Ile) c.583T>A (p.Phe195Ile) | |
6 | g.31933920T>C | CA363366366 | C2 | c.484T>C (p.Phe162Leu) c.301T>C (p.Phe101Leu) c.670T>C (p.Phe224Leu) c.165T>C (p.Pro55=) c.265T>C (p.Phe89Leu) n.473T>C n.608T>C c.274T>C (p.Phe92Leu) c.264T>C c.111+137T>C (n.111+137T>C) c.443-3399T>C (n.443-3399T>C) c.*383T>C (n.*383T>C) c.247T>C (p.Phe83Leu) c.583T>C (p.Phe195Leu) | |
6 | g.31933920T>G | CA363366363 | C2 | c.484T>G (p.Phe162Val) c.301T>G (p.Phe101Val) c.670T>G (p.Phe224Val) c.165T>G (p.Pro55=) c.265T>G (p.Phe89Val) n.473T>G n.608T>G c.274T>G (p.Phe92Val) c.264T>G c.111+137T>G (n.111+137T>G) c.443-3399T>G (n.443-3399T>G) c.*383T>G (n.*383T>G) c.247T>G (p.Phe83Val) c.583T>G (p.Phe195Val) | |
6 | g.31933921T>A | CA363366368 | C2 | c.485T>A (p.Phe162Tyr) c.302T>A (p.Phe101Tyr) c.671T>A (p.Phe224Tyr) c.166T>A (p.Ser56Thr) c.266T>A (p.Phe89Tyr) n.474T>A n.609T>A c.275T>A (p.Phe92Tyr) c.265T>A c.111+138T>A (n.111+138T>A) c.443-3398T>A (n.443-3398T>A) c.*384T>A (n.*384T>A) c.248T>A (p.Phe83Tyr) c.584T>A (p.Phe195Tyr) | |
6 | g.31933921T>C | CA363366370 | C2 | c.485T>C (p.Phe162Ser) c.302T>C (p.Phe101Ser) c.671T>C (p.Phe224Ser) c.166T>C (p.Ser56Pro) c.266T>C (p.Phe89Ser) n.474T>C n.609T>C c.275T>C (p.Phe92Ser) c.265T>C c.111+138T>C (n.111+138T>C) c.443-3398T>C (n.443-3398T>C) c.*384T>C (n.*384T>C) c.248T>C (p.Phe83Ser) c.584T>C (p.Phe195Ser) | |
6 | g.31933921T>G | CA363366372 | C2 | c.485T>G (p.Phe162Cys) c.302T>G (p.Phe101Cys) c.671T>G (p.Phe224Cys) c.166T>G (p.Ser56Ala) c.266T>G (p.Phe89Cys) n.474T>G n.609T>G c.275T>G (p.Phe92Cys) c.265T>G c.111+138T>G (n.111+138T>G) c.443-3398T>G (n.443-3398T>G) c.*384T>G (n.*384T>G) c.248T>G (p.Phe83Cys) c.584T>G (p.Phe195Cys) | |
6 | g.31933922C>A | CA363366374 | C2 | c.486C>A (p.Phe162Leu) c.303C>A (p.Phe101Leu) c.672C>A (p.Phe224Leu) c.167C>A (p.Ser56Tyr) c.267C>A (p.Phe89Leu) n.475C>A n.610C>A c.276C>A (p.Phe92Leu) c.266C>A c.111+139C>A (n.111+139C>A) c.443-3397C>A (n.443-3397C>A) c.*385C>A (n.*385C>A) c.249C>A (p.Phe83Leu) c.585C>A (p.Phe195Leu) | |
6 | g.31933922C= | CA1619369917 | C2 | c.486C= (p.Phe162=) c.303C= (p.Phe101=) c.672C= (p.Phe224=) c.167C= (p.Ser56=) c.267C= (p.Phe89=) n.475C= n.610C= c.276C= (p.Phe92=) c.266C= c.111+139C= (n.111+139C=) c.443-3397C= (n.443-3397C=) c.*385C= (n.*385C=) c.249C= (p.Phe83=) c.585C= (p.Phe195=) | |
6 | g.31933922C>G | CA363366377 | C2 | c.486C>G (p.Phe162Leu) c.303C>G (p.Phe101Leu) c.672C>G (p.Phe224Leu) c.167C>G (p.Ser56Cys) c.267C>G (p.Phe89Leu) n.475C>G n.610C>G c.276C>G (p.Phe92Leu) c.266C>G c.111+139C>G (n.111+139C>G) c.443-3397C>G (n.443-3397C>G) c.*385C>G (n.*385C>G) c.249C>G (p.Phe83Leu) c.585C>G (p.Phe195Leu) | |
6 | g.31933922C>T | CA3727464 | C2 | c.486C>T (p.Phe162=) c.303C>T (p.Phe101=) c.672C>T (p.Phe224=) c.167C>T (p.Ser56Phe) c.267C>T (p.Phe89=) n.475C>T n.610C>T c.276C>T (p.Phe92=) c.266C>T c.111+139C>T (n.111+139C>T) c.443-3397C>T (n.443-3397C>T) c.*385C>T (n.*385C>T) c.249C>T (p.Phe83=) c.585C>T (p.Phe195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933923T>A | CA363366381 | C2 | c.487T>A (p.Ser163Thr) c.304T>A (p.Ser102Thr) c.673T>A (p.Ser225Thr) c.168T>A (p.Ser56=) c.268T>A (p.Ser90Thr) n.476T>A n.611T>A c.277T>A (p.Ser93Thr) c.267T>A c.111+140T>A (n.111+140T>A) c.443-3396T>A (n.443-3396T>A) c.*386T>A (n.*386T>A) c.250T>A (p.Ser84Thr) c.586T>A (p.Ser196Thr) | |
6 | g.31933923T>C | CA363366384 | C2 | c.487T>C (p.Ser163Pro) c.304T>C (p.Ser102Pro) c.673T>C (p.Ser225Pro) c.168T>C (p.Ser56=) c.268T>C (p.Ser90Pro) n.476T>C n.611T>C c.277T>C (p.Ser93Pro) c.267T>C c.111+140T>C (n.111+140T>C) c.443-3396T>C (n.443-3396T>C) c.*386T>C (n.*386T>C) c.250T>C (p.Ser84Pro) c.586T>C (p.Ser196Pro) | |
6 | g.31933923T>G | CA3727466 | C2 | c.487T>G (p.Ser163Ala) c.304T>G (p.Ser102Ala) c.673T>G (p.Ser225Ala) c.168T>G (p.Ser56=) c.268T>G (p.Ser90Ala) n.476T>G n.611T>G c.277T>G (p.Ser93Ala) c.267T>G c.111+140T>G (n.111+140T>G) c.443-3396T>G (n.443-3396T>G) c.*386T>G (n.*386T>G) c.250T>G (p.Ser84Ala) c.586T>G (p.Ser196Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933923T= | CA1619369918 | C2 | c.487T= (p.Ser163=) c.304T= (p.Ser102=) c.673T= (p.Ser225=) c.168T= (p.Ser56=) c.268T= (p.Ser90=) n.476T= n.611T= c.277T= (p.Ser93=) c.267T= c.111+140T= (n.111+140T=) c.443-3396T= (n.443-3396T=) c.*386T= (n.*386T=) c.250T= (p.Ser84=) c.586T= (p.Ser196=) | |
6 | g.31933924C>A | CA363366395 | C2 | c.488C>A (p.Ser163Tyr) c.305C>A (p.Ser102Tyr) c.674C>A (p.Ser225Tyr) c.169C>A (p.Pro57Thr) c.269C>A (p.Ser90Tyr) n.477C>A n.612C>A c.278C>A (p.Ser93Tyr) c.268C>A c.111+141C>A (n.111+141C>A) c.443-3395C>A (n.443-3395C>A) c.*387C>A (n.*387C>A) c.251C>A (p.Ser84Tyr) c.587C>A (p.Ser196Tyr) | |
6 | g.31933924C>G | CA363366391 | C2 | c.488C>G (p.Ser163Cys) c.305C>G (p.Ser102Cys) c.674C>G (p.Ser225Cys) c.169C>G (p.Pro57Ala) c.269C>G (p.Ser90Cys) n.477C>G n.612C>G c.278C>G (p.Ser93Cys) c.268C>G c.111+141C>G (n.111+141C>G) c.443-3395C>G (n.443-3395C>G) c.*387C>G (n.*387C>G) c.251C>G (p.Ser84Cys) c.587C>G (p.Ser196Cys) | gnomAD v3 gnomAD v4 |
6 | g.31933924C>T | CA363366390 | C2 | c.488C>T (p.Ser163Phe) c.305C>T (p.Ser102Phe) c.674C>T (p.Ser225Phe) c.169C>T (p.Pro57Ser) c.269C>T (p.Ser90Phe) n.477C>T n.612C>T c.278C>T (p.Ser93Phe) c.268C>T c.111+141C>T (n.111+141C>T) c.443-3395C>T (n.443-3395C>T) c.*387C>T (n.*387C>T) c.251C>T (p.Ser84Phe) c.587C>T (p.Ser196Phe) | |
6 | g.31933925_31933926dup | CA3727465 | C2 | c.489_490dup (p.His164ProfsTer29) c.306_307dup (p.His103ProfsTer28) c.675_676dup (p.His226ProfsTer29) c.170_171dup (p.Thr58ProfsTer22) c.270_271dup (p.His91ProfsTer29) n.478_479dup n.613_614dup c.279_280dup (p.His94ProfsTer29) c.269_270dup c.170_171dup (p.Thr58ProfsTer19) c.306_307dup (p.His103ProfsTer29) c.489_490dup (p.His164ProfsTer28) c.111+142_111+143dup (n.111+142_111+143dup) c.443-3394_443-3393dup (n.443-3394_443-3393dup) c.*388_*389dup (n.*388_*389dup) c.252_253dup (p.His85ProfsTer29) c.588_589dup (p.His197ProfsTer29) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933926del | CA2578572155 | C2 | c.490del (p.His164ThrfsTer28) c.307del (p.His103ThrfsTer27) c.676del (p.His226ThrfsTer28) c.171del (p.Thr58HisfsTer21) c.271del (p.His91ThrfsTer28) n.479del n.614del c.280del (p.His94ThrfsTer28) c.270del c.171del (p.Thr58HisfsTer18) c.307del (p.His103ThrfsTer28) c.490del (p.His164ThrfsTer27) c.111+143del (n.111+143del) c.443-3393del (n.443-3393del) c.*389del (n.*389del) c.253del (p.His85ThrfsTer28) c.589del (p.His197ThrfsTer28) | |
6 | g.31933925C>A | CA363366399 | C2 | c.489C>A (p.Ser163=) c.306C>A (p.Ser102=) c.675C>A (p.Ser225=) c.170C>A (p.Pro57His) c.270C>A (p.Ser90=) n.478C>A n.613C>A c.279C>A (p.Ser93=) c.269C>A c.111+142C>A (n.111+142C>A) c.443-3394C>A (n.443-3394C>A) c.*388C>A (n.*388C>A) c.252C>A (p.Ser84=) c.588C>A (p.Ser196=) | |
6 | g.31933925C>G | CA363366412 | C2 | c.489C>G (p.Ser163=) c.306C>G (p.Ser102=) c.675C>G (p.Ser225=) c.170C>G (p.Pro57Arg) c.270C>G (p.Ser90=) n.478C>G n.613C>G c.279C>G (p.Ser93=) c.269C>G c.111+142C>G (n.111+142C>G) c.443-3394C>G (n.443-3394C>G) c.*388C>G (n.*388C>G) c.252C>G (p.Ser84=) c.588C>G (p.Ser196=) | |
6 | g.31933925C>T | CA363366417 | C2 | c.489C>T (p.Ser163=) c.306C>T (p.Ser102=) c.675C>T (p.Ser225=) c.170C>T (p.Pro57Leu) c.270C>T (p.Ser90=) n.478C>T n.613C>T c.279C>T (p.Ser93=) c.269C>T c.111+142C>T (n.111+142C>T) c.443-3394C>T (n.443-3394C>T) c.*388C>T (n.*388C>T) c.252C>T (p.Ser84=) c.588C>T (p.Ser196=) | COSMIC |
6 | g.31933926C>A | CA363366422 | C2 | c.490C>A (p.His164Asn) c.307C>A (p.His103Asn) c.676C>A (p.His226Asn) c.171C>A (p.Pro57=) c.271C>A (p.His91Asn) n.479C>A n.614C>A c.280C>A (p.His94Asn) c.270C>A c.111+143C>A (n.111+143C>A) c.443-3393C>A (n.443-3393C>A) c.*389C>A (n.*389C>A) c.253C>A (p.His85Asn) c.589C>A (p.His197Asn) | |
6 | g.31933926C= | CA1619369919 | C2 | c.490C= (p.His164=) c.307C= (p.His103=) c.676C= (p.His226=) c.171C= (p.Pro57=) c.271C= (p.His91=) n.479C= n.614C= c.280C= (p.His94=) c.270C= c.111+143C= (n.111+143C=) c.443-3393C= (n.443-3393C=) c.*389C= (n.*389C=) c.253C= (p.His85=) c.589C= (p.His197=) | |
6 | g.31933926C>G | CA3727467 | C2 | c.490C>G (p.His164Asp) c.307C>G (p.His103Asp) c.676C>G (p.His226Asp) c.171C>G (p.Pro57=) c.271C>G (p.His91Asp) n.479C>G n.614C>G c.280C>G (p.His94Asp) c.270C>G c.111+143C>G (n.111+143C>G) c.443-3393C>G (n.443-3393C>G) c.*389C>G (n.*389C>G) c.253C>G (p.His85Asp) c.589C>G (p.His197Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933926C>T | CA363366434 | C2 | c.490C>T (p.His164Tyr) c.307C>T (p.His103Tyr) c.676C>T (p.His226Tyr) c.171C>T (p.Pro57=) c.271C>T (p.His91Tyr) n.479C>T n.614C>T c.280C>T (p.His94Tyr) c.270C>T c.111+143C>T (n.111+143C>T) c.443-3393C>T (n.443-3393C>T) c.*389C>T (n.*389C>T) c.253C>T (p.His85Tyr) c.589C>T (p.His197Tyr) | gnomAD v4 |
6 | g.31933927A>C | CA363366437 | C2 | c.491A>C (p.His164Pro) c.308A>C (p.His103Pro) c.677A>C (p.His226Pro) c.172A>C (p.Thr58Pro) c.272A>C (p.His91Pro) n.480A>C n.615A>C c.281A>C (p.His94Pro) c.271A>C c.111+144A>C (n.111+144A>C) c.443-3392A>C (n.443-3392A>C) c.*390A>C (n.*390A>C) c.254A>C (p.His85Pro) c.590A>C (p.His197Pro) | |
6 | g.31933927A>G | CA363366446 | C2 | c.491A>G (p.His164Arg) c.308A>G (p.His103Arg) c.677A>G (p.His226Arg) c.172A>G (p.Thr58Ala) c.272A>G (p.His91Arg) n.480A>G n.615A>G c.281A>G (p.His94Arg) c.271A>G c.111+144A>G (n.111+144A>G) c.443-3392A>G (n.443-3392A>G) c.*390A>G (n.*390A>G) c.254A>G (p.His85Arg) c.590A>G (p.His197Arg) | |
6 | g.31933927A>T | CA363366449 | C2 | c.491A>T (p.His164Leu) c.308A>T (p.His103Leu) c.677A>T (p.His226Leu) c.172A>T (p.Thr58Ser) c.272A>T (p.His91Leu) n.480A>T n.615A>T c.281A>T (p.His94Leu) c.271A>T c.111+144A>T (n.111+144A>T) c.443-3392A>T (n.443-3392A>T) c.*390A>T (n.*390A>T) c.254A>T (p.His85Leu) c.590A>T (p.His197Leu) | |
6 | g.31933928C>A | CA363366450 | C2 | c.492C>A (p.His164Gln) c.309C>A (p.His103Gln) c.678C>A (p.His226Gln) c.173C>A (p.Thr58Lys) c.273C>A (p.His91Gln) n.481C>A n.616C>A c.282C>A (p.His94Gln) c.272C>A c.111+145C>A (n.111+145C>A) c.443-3391C>A (n.443-3391C>A) c.*391C>A (n.*391C>A) c.255C>A (p.His85Gln) c.591C>A (p.His197Gln) | |
6 | g.31933928C>G | CA363366451 | C2 | c.492C>G (p.His164Gln) c.309C>G (p.His103Gln) c.678C>G (p.His226Gln) c.173C>G (p.Thr58Arg) c.273C>G (p.His91Gln) n.481C>G n.616C>G c.282C>G (p.His94Gln) c.272C>G c.111+145C>G (n.111+145C>G) c.443-3391C>G (n.443-3391C>G) c.*391C>G (n.*391C>G) c.255C>G (p.His85Gln) c.591C>G (p.His197Gln) | |
6 | g.31933928C>T | CA363366452 | C2 | c.492C>T (p.His164=) c.309C>T (p.His103=) c.678C>T (p.His226=) c.173C>T (p.Thr58Ile) c.273C>T (p.His91=) n.481C>T n.616C>T c.282C>T (p.His94=) c.272C>T c.111+145C>T (n.111+145C>T) c.443-3391C>T (n.443-3391C>T) c.*391C>T (n.*391C>T) c.255C>T (p.His85=) c.591C>T (p.His197=) | |
6 | g.31933929A= | CA1619369920 | C2 | c.493A= (p.Met165=) c.310A= (p.Met104=) c.679A= (p.Met227=) c.174A= (p.Thr58=) c.274A= (p.Met92=) n.482A= n.617A= c.283A= (p.Met95=) c.273A= c.111+146A= (n.111+146A=) c.443-3390A= (n.443-3390A=) c.*392A= (n.*392A=) c.256A= (p.Met86=) c.592A= (p.Met198=) | |
6 | g.31933929A>C | CA363366458 | C2 | c.493A>C (p.Met165Leu) c.310A>C (p.Met104Leu) c.679A>C (p.Met227Leu) c.174A>C (p.Thr58=) c.274A>C (p.Met92Leu) n.482A>C n.617A>C c.283A>C (p.Met95Leu) c.273A>C c.111+146A>C (n.111+146A>C) c.443-3390A>C (n.443-3390A>C) c.*392A>C (n.*392A>C) c.256A>C (p.Met86Leu) c.592A>C (p.Met198Leu) | |
6 | g.31933929A>G | CA363366453 | C2 | c.493A>G (p.Met165Val) c.310A>G (p.Met104Val) c.679A>G (p.Met227Val) c.174A>G (p.Thr58=) c.274A>G (p.Met92Val) n.482A>G n.617A>G c.283A>G (p.Met95Val) c.273A>G c.111+146A>G (n.111+146A>G) c.443-3390A>G (n.443-3390A>G) c.*392A>G (n.*392A>G) c.256A>G (p.Met86Val) c.592A>G (p.Met198Val) | dbSNP |
6 | g.31933929A>T | CA363366456 | C2 | c.493A>T (p.Met165Leu) c.310A>T (p.Met104Leu) c.679A>T (p.Met227Leu) c.174A>T (p.Thr58=) c.274A>T (p.Met92Leu) n.482A>T n.617A>T c.283A>T (p.Met95Leu) c.273A>T c.111+146A>T (n.111+146A>T) c.443-3390A>T (n.443-3390A>T) c.*392A>T (n.*392A>T) c.256A>T (p.Met86Leu) c.592A>T (p.Met198Leu) | |
6 | g.31933930T>A | CA363366461 | C2 | c.494T>A (p.Met165Lys) c.311T>A (p.Met104Lys) c.680T>A (p.Met227Lys) c.175T>A (p.Cys59Ser) c.275T>A (p.Met92Lys) n.483T>A n.618T>A c.284T>A (p.Met95Lys) c.274T>A c.111+147T>A (n.111+147T>A) c.443-3389T>A (n.443-3389T>A) c.*393T>A (n.*393T>A) c.257T>A (p.Met86Lys) c.593T>A (p.Met198Lys) | |
6 | g.31933930T>C | CA363366465 | C2 | c.494T>C (p.Met165Thr) c.311T>C (p.Met104Thr) c.680T>C (p.Met227Thr) c.175T>C (p.Cys59Arg) c.275T>C (p.Met92Thr) n.483T>C n.618T>C c.284T>C (p.Met95Thr) c.274T>C c.111+147T>C (n.111+147T>C) c.443-3389T>C (n.443-3389T>C) c.*393T>C (n.*393T>C) c.257T>C (p.Met86Thr) c.593T>C (p.Met198Thr) | |
6 | g.31933930T>G | CA363366468 | C2 | c.494T>G (p.Met165Arg) c.311T>G (p.Met104Arg) c.680T>G (p.Met227Arg) c.175T>G (p.Cys59Gly) c.275T>G (p.Met92Arg) n.483T>G n.618T>G c.284T>G (p.Met95Arg) c.274T>G c.111+147T>G (n.111+147T>G) c.443-3389T>G (n.443-3389T>G) c.*393T>G (n.*393T>G) c.257T>G (p.Met86Arg) c.593T>G (p.Met198Arg) | |
6 | g.31933931G>A | CA3727468 | C2 | c.495G>A (p.Met165Ile) c.312G>A (p.Met104Ile) c.681G>A (p.Met227Ile) c.176G>A (p.Cys59Tyr) c.276G>A (p.Met92Ile) n.484G>A n.619G>A c.285G>A (p.Met95Ile) c.275G>A c.111+148G>A (n.111+148G>A) c.443-3388G>A (n.443-3388G>A) c.*394G>A (n.*394G>A) c.258G>A (p.Met86Ile) c.594G>A (p.Met198Ile) | dbSNP ExAC gnomAD v2 |
6 | g.31933931G>C | CA363366474 | C2 | c.495G>C (p.Met165Ile) c.312G>C (p.Met104Ile) c.681G>C (p.Met227Ile) c.176G>C (p.Cys59Ser) c.276G>C (p.Met92Ile) n.484G>C n.619G>C c.285G>C (p.Met95Ile) c.275G>C c.111+148G>C (n.111+148G>C) c.443-3388G>C (n.443-3388G>C) c.*394G>C (n.*394G>C) c.258G>C (p.Met86Ile) c.594G>C (p.Met198Ile) | |
6 | g.31933931G= | CA1619369921 | C2 | c.495G= (p.Met165=) c.312G= (p.Met104=) c.681G= (p.Met227=) c.176G= (p.Cys59=) c.276G= (p.Met92=) n.484G= n.619G= c.285G= (p.Met95=) c.275G= c.111+148G= (n.111+148G=) c.443-3388G= (n.443-3388G=) c.*394G= (n.*394G=) c.258G= (p.Met86=) c.594G= (p.Met198=) | |
6 | g.31933931G>T | CA363366475 | C2 | c.495G>T (p.Met165Ile) c.312G>T (p.Met104Ile) c.681G>T (p.Met227Ile) c.176G>T (p.Cys59Phe) c.276G>T (p.Met92Ile) n.484G>T n.619G>T c.285G>T (p.Met95Ile) c.275G>T c.111+148G>T (n.111+148G>T) c.443-3388G>T (n.443-3388G>T) c.*394G>T (n.*394G>T) c.258G>T (p.Met86Ile) c.594G>T (p.Met198Ile) | |
6 | g.31933932C>A | CA363366479 | C2 | c.496C>A (p.Leu166Ile) c.313C>A (p.Leu105Ile) c.682C>A (p.Leu228Ile) c.177C>A (p.Cys59Ter) c.277C>A (p.Leu93Ile) n.485C>A n.620C>A c.286C>A (p.Leu96Ile) c.276C>A c.111+149C>A (n.111+149C>A) c.443-3387C>A (n.443-3387C>A) c.*395C>A (n.*395C>A) c.259C>A (p.Leu87Ile) c.595C>A (p.Leu199Ile) | |
6 | g.31933932C>G | CA363366481 | C2 | c.496C>G (p.Leu166Val) c.313C>G (p.Leu105Val) c.682C>G (p.Leu228Val) c.177C>G (p.Cys59Trp) c.277C>G (p.Leu93Val) n.485C>G n.620C>G c.286C>G (p.Leu96Val) c.276C>G c.111+149C>G (n.111+149C>G) c.443-3387C>G (n.443-3387C>G) c.*395C>G (n.*395C>G) c.259C>G (p.Leu87Val) c.595C>G (p.Leu199Val) | |
6 | g.31933932C>T | CA363366487 | C2 | c.496C>T (p.Leu166Phe) c.313C>T (p.Leu105Phe) c.682C>T (p.Leu228Phe) c.177C>T (p.Cys59=) c.277C>T (p.Leu93Phe) n.485C>T n.620C>T c.286C>T (p.Leu96Phe) c.276C>T c.111+149C>T (n.111+149C>T) c.443-3387C>T (n.443-3387C>T) c.*395C>T (n.*395C>T) c.259C>T (p.Leu87Phe) c.595C>T (p.Leu199Phe) | |
6 | g.31933933T>A | CA363366490 | C2 | c.497T>A (p.Leu166His) c.314T>A (p.Leu105His) c.683T>A (p.Leu228His) c.178T>A (p.Leu60Met) c.278T>A (p.Leu93His) n.486T>A n.621T>A c.287T>A (p.Leu96His) c.277T>A c.111+150T>A (n.111+150T>A) c.443-3386T>A (n.443-3386T>A) c.*396T>A (n.*396T>A) c.260T>A (p.Leu87His) c.596T>A (p.Leu199His) | |
6 | g.31933933T>C | CA363366492 | C2 | c.497T>C (p.Leu166Pro) c.314T>C (p.Leu105Pro) c.683T>C (p.Leu228Pro) c.178T>C (p.Leu60=) c.278T>C (p.Leu93Pro) n.486T>C n.621T>C c.287T>C (p.Leu96Pro) c.277T>C c.111+150T>C (n.111+150T>C) c.443-3386T>C (n.443-3386T>C) c.*396T>C (n.*396T>C) c.260T>C (p.Leu87Pro) c.596T>C (p.Leu199Pro) | dbSNP |
6 | g.31933933T>G | CA363366494 | C2 | c.497T>G (p.Leu166Arg) c.314T>G (p.Leu105Arg) c.683T>G (p.Leu228Arg) c.178T>G (p.Leu60Val) c.278T>G (p.Leu93Arg) n.486T>G n.621T>G c.287T>G (p.Leu96Arg) c.277T>G c.111+150T>G (n.111+150T>G) c.443-3386T>G (n.443-3386T>G) c.*396T>G (n.*396T>G) c.260T>G (p.Leu87Arg) c.596T>G (p.Leu199Arg) | |
6 | g.31933933T= | CA1619369922 | C2 | c.497T= (p.Leu166=) c.314T= (p.Leu105=) c.683T= (p.Leu228=) c.178T= (p.Leu60=) c.278T= (p.Leu93=) n.486T= n.621T= c.287T= (p.Leu96=) c.277T= c.111+150T= (n.111+150T=) c.443-3386T= (n.443-3386T=) c.*396T= (n.*396T=) c.260T= (p.Leu87=) c.596T= (p.Leu199=) | |
6 | g.31933934T>A | CA363366499 | C2 | c.498T>A (p.Leu166=) c.315T>A (p.Leu105=) c.684T>A (p.Leu228=) c.179T>A (p.Leu60Ter) c.279T>A (p.Leu93=) n.487T>A n.622T>A c.288T>A (p.Leu96=) c.278T>A c.111+151T>A (n.111+151T>A) c.443-3385T>A (n.443-3385T>A) c.*397T>A (n.*397T>A) c.261T>A (p.Leu87=) c.597T>A (p.Leu199=) | |
6 | g.31933934T>C | CA363366497 | C2 | c.498T>C (p.Leu166=) c.315T>C (p.Leu105=) c.684T>C (p.Leu228=) c.179T>C (p.Leu60Ser) c.279T>C (p.Leu93=) n.487T>C n.622T>C c.288T>C (p.Leu96=) c.278T>C c.111+151T>C (n.111+151T>C) c.443-3385T>C (n.443-3385T>C) c.*397T>C (n.*397T>C) c.261T>C (p.Leu87=) c.597T>C (p.Leu199=) | |
6 | g.31933934T>G | CA363366495 | C2 | c.498T>G (p.Leu166=) c.315T>G (p.Leu105=) c.684T>G (p.Leu228=) c.179T>G (p.Leu60Trp) c.279T>G (p.Leu93=) n.487T>G n.622T>G c.288T>G (p.Leu96=) c.278T>G c.111+151T>G (n.111+151T>G) c.443-3385T>G (n.443-3385T>G) c.*397T>G (n.*397T>G) c.261T>G (p.Leu87=) c.597T>G (p.Leu199=) | |
6 | g.31933935G>A | CA363366502 | C2 | c.499G>A (p.Gly167Arg) c.316G>A (p.Gly106Arg) c.685G>A (p.Gly229Arg) c.180G>A (p.Leu60=) c.280G>A (p.Gly94Arg) n.488G>A n.623G>A c.289G>A (p.Gly97Arg) c.279G>A c.111+152G>A (n.111+152G>A) c.443-3384G>A (n.443-3384G>A) c.*398G>A (n.*398G>A) c.262G>A (p.Gly88Arg) c.598G>A (p.Gly200Arg) | ClinVar dbSNP gnomAD v4 |
6 | g.31933935G>C | CA363366504 | C2 | c.499G>C (p.Gly167Arg) c.316G>C (p.Gly106Arg) c.685G>C (p.Gly229Arg) c.180G>C (p.Leu60Phe) c.280G>C (p.Gly94Arg) n.488G>C n.623G>C c.289G>C (p.Gly97Arg) c.279G>C c.111+152G>C (n.111+152G>C) c.443-3384G>C (n.443-3384G>C) c.*398G>C (n.*398G>C) c.262G>C (p.Gly88Arg) c.598G>C (p.Gly200Arg) | |
6 | g.31933935G>T | CA363366507 | C2 | c.499G>T (p.Gly167Trp) c.316G>T (p.Gly106Trp) c.685G>T (p.Gly229Trp) c.180G>T (p.Leu60Phe) c.280G>T (p.Gly94Trp) n.488G>T n.623G>T c.289G>T (p.Gly97Trp) c.279G>T c.111+152G>T (n.111+152G>T) c.443-3384G>T (n.443-3384G>T) c.*398G>T (n.*398G>T) c.262G>T (p.Gly88Trp) c.598G>T (p.Gly200Trp) | |
6 | g.31933936G>A | CA3727469 | C2 | c.500G>A (p.Gly167Glu) c.317G>A (p.Gly106Glu) c.686G>A (p.Gly229Glu) c.181G>A (p.Gly61Arg) c.281G>A (p.Gly94Glu) n.489G>A n.624G>A c.290G>A (p.Gly97Glu) c.280G>A c.111+153G>A (n.111+153G>A) c.443-3383G>A (n.443-3383G>A) c.*399G>A (n.*399G>A) c.263G>A (p.Gly88Glu) c.599G>A (p.Gly200Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31933936G>C | CA363366510 | C2 | c.500G>C (p.Gly167Ala) c.317G>C (p.Gly106Ala) c.686G>C (p.Gly229Ala) c.181G>C (p.Gly61Arg) c.281G>C (p.Gly94Ala) n.489G>C n.624G>C c.290G>C (p.Gly97Ala) c.280G>C c.111+153G>C (n.111+153G>C) c.443-3383G>C (n.443-3383G>C) c.*399G>C (n.*399G>C) c.263G>C (p.Gly88Ala) c.599G>C (p.Gly200Ala) | |
6 | g.31933936G= | CA1619369923 | C2 | c.500G= (p.Gly167=) c.317G= (p.Gly106=) c.686G= (p.Gly229=) c.181G= (p.Gly61=) c.281G= (p.Gly94=) n.489G= n.624G= c.290G= (p.Gly97=) c.280G= c.111+153G= (n.111+153G=) c.443-3383G= (n.443-3383G=) c.*399G= (n.*399G=) c.263G= (p.Gly88=) c.599G= (p.Gly200=) | |
6 | g.31933936G>T | CA363366513 | C2 | c.500G>T (p.Gly167Val) c.317G>T (p.Gly106Val) c.686G>T (p.Gly229Val) c.181G>T (p.Gly61Trp) c.281G>T (p.Gly94Val) n.489G>T n.624G>T c.290G>T (p.Gly97Val) c.280G>T c.111+153G>T (n.111+153G>T) c.443-3383G>T (n.443-3383G>T) c.*399G>T (n.*399G>T) c.263G>T (p.Gly88Val) c.599G>T (p.Gly200Val) | COSMIC |
6 | g.31933937G>A | CA363366532 | C2 | c.501G>A (p.Gly167=) c.318G>A (p.Gly106=) c.687G>A (p.Gly229=) c.182G>A (p.Gly61Glu) c.282G>A (p.Gly94=) n.490G>A n.625G>A c.291G>A (p.Gly97=) c.281G>A c.111+154G>A (n.111+154G>A) c.443-3382G>A (n.443-3382G>A) c.*400G>A (n.*400G>A) c.264G>A (p.Gly88=) c.600G>A (p.Gly200=) | |
6 | g.31933937G>C | CA363366528 | C2 | c.501G>C (p.Gly167=) c.318G>C (p.Gly106=) c.687G>C (p.Gly229=) c.182G>C (p.Gly61Ala) c.282G>C (p.Gly94=) n.490G>C n.625G>C c.291G>C (p.Gly97=) c.281G>C c.111+154G>C (n.111+154G>C) c.443-3382G>C (n.443-3382G>C) c.*400G>C (n.*400G>C) c.264G>C (p.Gly88=) c.600G>C (p.Gly200=) | |
6 | g.31933937G= | CA1619369924 | C2 | c.501G= (p.Gly167=) c.318G= (p.Gly106=) c.687G= (p.Gly229=) c.182G= (p.Gly61=) c.282G= (p.Gly94=) n.490G= n.625G= c.291G= (p.Gly97=) c.281G= c.111+154G= (n.111+154G=) c.443-3382G= (n.443-3382G=) c.*400G= (n.*400G=) c.264G= (p.Gly88=) c.600G= (p.Gly200=) | |
6 | g.31933937G>T | CA3727470 | C2 | c.501G>T (p.Gly167=) c.318G>T (p.Gly106=) c.687G>T (p.Gly229=) c.182G>T (p.Gly61Val) c.282G>T (p.Gly94=) n.490G>T n.625G>T c.291G>T (p.Gly97=) c.281G>T c.111+154G>T (n.111+154G>T) c.443-3382G>T (n.443-3382G>T) c.*400G>T (n.*400G>T) c.264G>T (p.Gly88=) c.600G>T (p.Gly200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933938G>A | CA363366535 | C2 | c.502G>A (p.Ala168Thr) c.319G>A (p.Ala107Thr) c.688G>A (p.Ala230Thr) c.183G>A (p.Gly61=) c.283G>A (p.Ala95Thr) n.491G>A n.626G>A c.292G>A (p.Ala98Thr) c.282G>A c.111+155G>A (n.111+155G>A) c.443-3381G>A (n.443-3381G>A) c.*401G>A (n.*401G>A) c.265G>A (p.Ala89Thr) c.601G>A (p.Ala201Thr) | |
6 | g.31933938G>C | CA3727471 | C2 | c.502G>C (p.Ala168Pro) c.319G>C (p.Ala107Pro) c.688G>C (p.Ala230Pro) c.183G>C (p.Gly61=) c.283G>C (p.Ala95Pro) n.491G>C n.626G>C c.292G>C (p.Ala98Pro) c.282G>C c.111+155G>C (n.111+155G>C) c.443-3381G>C (n.443-3381G>C) c.*401G>C (n.*401G>C) c.265G>C (p.Ala89Pro) c.601G>C (p.Ala201Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933938G= | CA1619369925 | C2 | c.502G= (p.Ala168=) c.319G= (p.Ala107=) c.688G= (p.Ala230=) c.183G= (p.Gly61=) c.283G= (p.Ala95=) n.491G= n.626G= c.292G= (p.Ala98=) c.282G= c.111+155G= (n.111+155G=) c.443-3381G= (n.443-3381G=) c.*401G= (n.*401G=) c.265G= (p.Ala89=) c.601G= (p.Ala201=) | |
6 | g.31933938G>T | CA363366539 | C2 | c.502G>T (p.Ala168Ser) c.319G>T (p.Ala107Ser) c.688G>T (p.Ala230Ser) c.183G>T (p.Gly61=) c.283G>T (p.Ala95Ser) n.491G>T n.626G>T c.292G>T (p.Ala98Ser) c.282G>T c.111+155G>T (n.111+155G>T) c.443-3381G>T (n.443-3381G>T) c.*401G>T (n.*401G>T) c.265G>T (p.Ala89Ser) c.601G>T (p.Ala201Ser) | |
6 | g.31933939C>A | CA363366540 | C2 | c.503C>A (p.Ala168Asp) c.320C>A (p.Ala107Asp) c.689C>A (p.Ala230Asp) c.184C>A (p.Pro62Thr) c.284C>A (p.Ala95Asp) n.492C>A n.627C>A c.293C>A (p.Ala98Asp) c.283C>A c.111+156C>A (n.111+156C>A) c.443-3380C>A (n.443-3380C>A) c.*402C>A (n.*402C>A) c.266C>A (p.Ala89Asp) c.602C>A (p.Ala201Asp) | |
6 | g.31933939C>G | CA363366541 | C2 | c.503C>G (p.Ala168Gly) c.320C>G (p.Ala107Gly) c.689C>G (p.Ala230Gly) c.184C>G (p.Pro62Ala) c.284C>G (p.Ala95Gly) n.492C>G n.627C>G c.293C>G (p.Ala98Gly) c.283C>G c.111+156C>G (n.111+156C>G) c.443-3380C>G (n.443-3380C>G) c.*402C>G (n.*402C>G) c.266C>G (p.Ala89Gly) c.602C>G (p.Ala201Gly) | |
6 | g.31933939C>T | CA363366542 | C2 | c.503C>T (p.Ala168Val) c.320C>T (p.Ala107Val) c.689C>T (p.Ala230Val) c.184C>T (p.Pro62Ser) c.284C>T (p.Ala95Val) n.492C>T n.627C>T c.293C>T (p.Ala98Val) c.283C>T c.111+156C>T (n.111+156C>T) c.443-3380C>T (n.443-3380C>T) c.*402C>T (n.*402C>T) c.266C>T (p.Ala89Val) c.602C>T (p.Ala201Val) | |
6 | g.31933940C>A | CA363366544 | C2 | c.504C>A (p.Ala168=) c.321C>A (p.Ala107=) c.690C>A (p.Ala230=) c.185C>A (p.Pro62Gln) c.285C>A (p.Ala95=) n.493C>A n.628C>A c.294C>A (p.Ala98=) c.284C>A c.111+157C>A (n.111+157C>A) c.443-3379C>A (n.443-3379C>A) c.*403C>A (n.*403C>A) c.267C>A (p.Ala89=) c.603C>A (p.Ala201=) | |
6 | g.31933940C>G | CA363366551 | C2 | c.504C>G (p.Ala168=) c.321C>G (p.Ala107=) c.690C>G (p.Ala230=) c.185C>G (p.Pro62Arg) c.285C>G (p.Ala95=) n.493C>G n.628C>G c.294C>G (p.Ala98=) c.284C>G c.111+157C>G (n.111+157C>G) c.443-3379C>G (n.443-3379C>G) c.*403C>G (n.*403C>G) c.267C>G (p.Ala89=) c.603C>G (p.Ala201=) | |
6 | g.31933940C>T | CA363366548 | C2 | c.504C>T (p.Ala168=) c.321C>T (p.Ala107=) c.690C>T (p.Ala230=) c.185C>T (p.Pro62Leu) c.285C>T (p.Ala95=) n.493C>T n.628C>T c.294C>T (p.Ala98=) c.284C>T c.111+157C>T (n.111+157C>T) c.443-3379C>T (n.443-3379C>T) c.*403C>T (n.*403C>T) c.267C>T (p.Ala89=) c.603C>T (p.Ala201=) | |
6 | g.31933941A>C | CA363366554 | C2 | c.505A>C (p.Thr169Pro) c.322A>C (p.Thr108Pro) c.691A>C (p.Thr231Pro) c.186A>C (p.Pro62=) c.286A>C (p.Thr96Pro) n.494A>C n.629A>C c.295A>C (p.Thr99Pro) c.285A>C c.111+158A>C (n.111+158A>C) c.443-3378A>C (n.443-3378A>C) c.*404A>C (n.*404A>C) c.268A>C (p.Thr90Pro) c.604A>C (p.Thr202Pro) | |
6 | g.31933941A>G | CA363366568 | C2 | c.505A>G (p.Thr169Ala) c.322A>G (p.Thr108Ala) c.691A>G (p.Thr231Ala) c.186A>G (p.Pro62=) c.286A>G (p.Thr96Ala) n.494A>G n.629A>G c.295A>G (p.Thr99Ala) c.285A>G c.111+158A>G (n.111+158A>G) c.443-3378A>G (n.443-3378A>G) c.*404A>G (n.*404A>G) c.268A>G (p.Thr90Ala) c.604A>G (p.Thr202Ala) | |
6 | g.31933941A>T | CA363366572 | C2 | c.505A>T (p.Thr169Ser) c.322A>T (p.Thr108Ser) c.691A>T (p.Thr231Ser) c.186A>T (p.Pro62=) c.286A>T (p.Thr96Ser) n.494A>T n.629A>T c.295A>T (p.Thr99Ser) c.285A>T c.111+158A>T (n.111+158A>T) c.443-3378A>T (n.443-3378A>T) c.*404A>T (n.*404A>T) c.268A>T (p.Thr90Ser) c.604A>T (p.Thr202Ser) | |
6 | g.31933942C>A | CA363366578 | C2 | c.506C>A (p.Thr169Asn) c.323C>A (p.Thr108Asn) c.692C>A (p.Thr231Asn) c.187C>A (p.Pro63Thr) c.287C>A (p.Thr96Asn) n.495C>A n.630C>A c.296C>A (p.Thr99Asn) c.286C>A c.111+159C>A (n.111+159C>A) c.443-3377C>A (n.443-3377C>A) c.*405C>A (n.*405C>A) c.269C>A (p.Thr90Asn) c.605C>A (p.Thr202Asn) | |
6 | g.31933942C>G | CA363366579 | C2 | c.506C>G (p.Thr169Ser) c.323C>G (p.Thr108Ser) c.692C>G (p.Thr231Ser) c.187C>G (p.Pro63Ala) c.287C>G (p.Thr96Ser) n.495C>G n.630C>G c.296C>G (p.Thr99Ser) c.286C>G c.111+159C>G (n.111+159C>G) c.443-3377C>G (n.443-3377C>G) c.*405C>G (n.*405C>G) c.269C>G (p.Thr90Ser) c.605C>G (p.Thr202Ser) | |
6 | g.31933942C>T | CA363366582 | C2 | c.506C>T (p.Thr169Ile) c.323C>T (p.Thr108Ile) c.692C>T (p.Thr231Ile) c.187C>T (p.Pro63Ser) c.287C>T (p.Thr96Ile) n.495C>T n.630C>T c.296C>T (p.Thr99Ile) c.286C>T c.111+159C>T (n.111+159C>T) c.443-3377C>T (n.443-3377C>T) c.*405C>T (n.*405C>T) c.269C>T (p.Thr90Ile) c.605C>T (p.Thr202Ile) | gnomAD v4 |
6 | g.31933943C>A | CA363366585 | C2 | c.507C>A (p.Thr169=) c.324C>A (p.Thr108=) c.693C>A (p.Thr231=) c.188C>A (p.Pro63Gln) c.288C>A (p.Thr96=) n.496C>A n.631C>A c.297C>A (p.Thr99=) c.287C>A c.111+160C>A (n.111+160C>A) c.443-3376C>A (n.443-3376C>A) c.*406C>A (n.*406C>A) c.270C>A (p.Thr90=) c.606C>A (p.Thr202=) | |
6 | g.31933943C>G | CA363366588 | C2 | c.507C>G (p.Thr169=) c.324C>G (p.Thr108=) c.693C>G (p.Thr231=) c.188C>G (p.Pro63Arg) c.288C>G (p.Thr96=) n.496C>G n.631C>G c.297C>G (p.Thr99=) c.287C>G c.111+160C>G (n.111+160C>G) c.443-3376C>G (n.443-3376C>G) c.*406C>G (n.*406C>G) c.270C>G (p.Thr90=) c.606C>G (p.Thr202=) | |
6 | g.31933943C>T | CA363366590 | C2 | c.507C>T (p.Thr169=) c.324C>T (p.Thr108=) c.693C>T (p.Thr231=) c.188C>T (p.Pro63Leu) c.288C>T (p.Thr96=) n.496C>T n.631C>T c.297C>T (p.Thr99=) c.287C>T c.111+160C>T (n.111+160C>T) c.443-3376C>T (n.443-3376C>T) c.*406C>T (n.*406C>T) c.270C>T (p.Thr90=) c.606C>T (p.Thr202=) | |
6 | g.31933944A>C | CA363366602 | C2 | c.508A>C (p.Asn170His) c.325A>C (p.Asn109His) c.694A>C (p.Asn232His) c.189A>C (p.Pro63=) c.289A>C (p.Asn97His) n.497A>C n.632A>C c.298A>C (p.Asn100His) c.288A>C c.111+161A>C (n.111+161A>C) c.443-3375A>C (n.443-3375A>C) c.*407A>C (n.*407A>C) c.271A>C (p.Asn91His) c.607A>C (p.Asn203His) | |
6 | g.31933944A>G | CA363366607 | C2 | c.508A>G (p.Asn170Asp) c.325A>G (p.Asn109Asp) c.694A>G (p.Asn232Asp) c.189A>G (p.Pro63=) c.289A>G (p.Asn97Asp) n.497A>G n.632A>G c.298A>G (p.Asn100Asp) c.288A>G c.111+161A>G (n.111+161A>G) c.443-3375A>G (n.443-3375A>G) c.*407A>G (n.*407A>G) c.271A>G (p.Asn91Asp) c.607A>G (p.Asn203Asp) | |
6 | g.31933944A>T | CA363366610 | C2 | c.508A>T (p.Asn170Tyr) c.325A>T (p.Asn109Tyr) c.694A>T (p.Asn232Tyr) c.189A>T (p.Pro63=) c.289A>T (p.Asn97Tyr) n.497A>T n.632A>T c.298A>T (p.Asn100Tyr) c.288A>T c.111+161A>T (n.111+161A>T) c.443-3375A>T (n.443-3375A>T) c.*407A>T (n.*407A>T) c.271A>T (p.Asn91Tyr) c.607A>T (p.Asn203Tyr) | |
6 | g.31933945A>C | CA363366613 | C2 | c.509A>C (p.Asn170Thr) c.326A>C (p.Asn109Thr) c.695A>C (p.Asn232Thr) c.190A>C (p.Ile64Leu) c.290A>C (p.Asn97Thr) n.498A>C n.633A>C c.299A>C (p.Asn100Thr) c.289A>C c.111+162A>C (n.111+162A>C) c.443-3374A>C (n.443-3374A>C) c.*408A>C (n.*408A>C) c.272A>C (p.Asn91Thr) c.608A>C (p.Asn203Thr) | |
6 | g.31933945A>G | CA363366620 | C2 | c.509A>G (p.Asn170Ser) c.326A>G (p.Asn109Ser) c.695A>G (p.Asn232Ser) c.190A>G (p.Ile64Val) c.290A>G (p.Asn97Ser) n.498A>G n.633A>G c.299A>G (p.Asn100Ser) c.289A>G c.111+162A>G (n.111+162A>G) c.443-3374A>G (n.443-3374A>G) c.*408A>G (n.*408A>G) c.272A>G (p.Asn91Ser) c.608A>G (p.Asn203Ser) | |
6 | g.31933945A>T | CA363366615 | C2 | c.509A>T (p.Asn170Ile) c.326A>T (p.Asn109Ile) c.695A>T (p.Asn232Ile) c.190A>T (p.Ile64Phe) c.290A>T (p.Asn97Ile) n.498A>T n.633A>T c.299A>T (p.Asn100Ile) c.289A>T c.111+162A>T (n.111+162A>T) c.443-3374A>T (n.443-3374A>T) c.*408A>T (n.*408A>T) c.272A>T (p.Asn91Ile) c.608A>T (p.Asn203Ile) | |
6 | g.31933946T>A | CA363366622 | C2 | c.510T>A (p.Asn170Lys) c.327T>A (p.Asn109Lys) c.696T>A (p.Asn232Lys) c.191T>A (p.Ile64Asn) c.291T>A (p.Asn97Lys) n.499T>A n.634T>A c.300T>A (p.Asn100Lys) c.290T>A c.111+163T>A (n.111+163T>A) c.443-3373T>A (n.443-3373T>A) c.*409T>A (n.*409T>A) c.273T>A (p.Asn91Lys) c.609T>A (p.Asn203Lys) | |
6 | g.31933946T>C | CA363366625 | C2 | c.510T>C (p.Asn170=) c.327T>C (p.Asn109=) c.696T>C (p.Asn232=) c.191T>C (p.Ile64Thr) c.291T>C (p.Asn97=) n.499T>C n.634T>C c.300T>C (p.Asn100=) c.290T>C c.111+163T>C (n.111+163T>C) c.443-3373T>C (n.443-3373T>C) c.*409T>C (n.*409T>C) c.273T>C (p.Asn91=) c.609T>C (p.Asn203=) | dbSNP |
6 | g.31933946T>G | CA363366638 | C2 | c.510T>G (p.Asn170Lys) c.327T>G (p.Asn109Lys) c.696T>G (p.Asn232Lys) c.191T>G (p.Ile64Ser) c.291T>G (p.Asn97Lys) n.499T>G n.634T>G c.300T>G (p.Asn100Lys) c.290T>G c.111+163T>G (n.111+163T>G) c.443-3373T>G (n.443-3373T>G) c.*409T>G (n.*409T>G) c.273T>G (p.Asn91Lys) c.609T>G (p.Asn203Lys) | |
6 | g.31933946T= | CA1619369926 | C2 | c.510T= (p.Asn170=) c.327T= (p.Asn109=) c.696T= (p.Asn232=) c.191T= (p.Ile64=) c.291T= (p.Asn97=) n.499T= n.634T= c.300T= (p.Asn100=) c.290T= c.111+163T= (n.111+163T=) c.443-3373T= (n.443-3373T=) c.*409T= (n.*409T=) c.273T= (p.Asn91=) c.609T= (p.Asn203=) | |
6 | g.31933947C>A | CA363366642 | C2 | c.511C>A (p.Pro171Thr) c.328C>A (p.Pro110Thr) c.697C>A (p.Pro233Thr) c.192C>A (p.Ile64=) c.292C>A (p.Pro98Thr) n.500C>A n.635C>A c.301C>A (p.Pro101Thr) c.291C>A c.111+164C>A (n.111+164C>A) c.443-3372C>A (n.443-3372C>A) c.*410C>A (n.*410C>A) c.274C>A (p.Pro92Thr) c.610C>A (p.Pro204Thr) | |
6 | g.31933947C= | CA1619369927 | C2 | c.511C= (p.Pro171=) c.328C= (p.Pro110=) c.697C= (p.Pro233=) c.192C= (p.Ile64=) c.292C= (p.Pro98=) n.500C= n.635C= c.301C= (p.Pro101=) c.291C= c.111+164C= (n.111+164C=) c.443-3372C= (n.443-3372C=) c.*410C= (n.*410C=) c.274C= (p.Pro92=) c.610C= (p.Pro204=) | |
6 | g.31933947C>G | CA363366643 | C2 | c.511C>G (p.Pro171Ala) c.328C>G (p.Pro110Ala) c.697C>G (p.Pro233Ala) c.192C>G (p.Ile64Met) c.292C>G (p.Pro98Ala) n.500C>G n.635C>G c.301C>G (p.Pro101Ala) c.291C>G c.111+164C>G (n.111+164C>G) c.443-3372C>G (n.443-3372C>G) c.*410C>G (n.*410C>G) c.274C>G (p.Pro92Ala) c.610C>G (p.Pro204Ala) | |
6 | g.31933947C>T | CA363366648 | C2 | c.511C>T (p.Pro171Ser) c.328C>T (p.Pro110Ser) c.697C>T (p.Pro233Ser) c.192C>T (p.Ile64=) c.292C>T (p.Pro98Ser) n.500C>T n.635C>T c.301C>T (p.Pro101Ser) c.291C>T c.111+164C>T (n.111+164C>T) c.443-3372C>T (n.443-3372C>T) c.*410C>T (n.*410C>T) c.274C>T (p.Pro92Ser) c.610C>T (p.Pro204Ser) | dbSNP gnomAD v2 COSMIC |
6 | g.31933948C>A | CA363366650 | C2 | c.512C>A (p.Pro171His) c.329C>A (p.Pro110His) c.698C>A (p.Pro233His) c.193C>A (p.Pro65Thr) c.293C>A (p.Pro98His) n.501C>A n.636C>A c.302C>A (p.Pro101His) c.292C>A c.111+165C>A (n.111+165C>A) c.443-3371C>A (n.443-3371C>A) c.*411C>A (n.*411C>A) c.275C>A (p.Pro92His) c.611C>A (p.Pro204His) | |
6 | g.31933948C>G | CA363366653 | C2 | c.512C>G (p.Pro171Arg) c.329C>G (p.Pro110Arg) c.698C>G (p.Pro233Arg) c.193C>G (p.Pro65Ala) c.293C>G (p.Pro98Arg) n.501C>G n.636C>G c.302C>G (p.Pro101Arg) c.292C>G c.111+165C>G (n.111+165C>G) c.443-3371C>G (n.443-3371C>G) c.*411C>G (n.*411C>G) c.275C>G (p.Pro92Arg) c.611C>G (p.Pro204Arg) | |
6 | g.31933948C>T | CA363366655 | C2 | c.512C>T (p.Pro171Leu) c.329C>T (p.Pro110Leu) c.698C>T (p.Pro233Leu) c.193C>T (p.Pro65Ser) c.293C>T (p.Pro98Leu) n.501C>T n.636C>T c.302C>T (p.Pro101Leu) c.292C>T c.111+165C>T (n.111+165C>T) c.443-3371C>T (n.443-3371C>T) c.*411C>T (n.*411C>T) c.275C>T (p.Pro92Leu) c.611C>T (p.Pro204Leu) | gnomAD v4 COSMIC |
6 | g.31933949C>A | CA363366659 | C2 | c.513C>A (p.Pro171=) c.330C>A (p.Pro110=) c.699C>A (p.Pro233=) c.194C>A (p.Pro65Gln) c.294C>A (p.Pro98=) n.502C>A n.637C>A c.303C>A (p.Pro101=) c.293C>A c.111+166C>A (n.111+166C>A) c.443-3370C>A (n.443-3370C>A) c.*412C>A (n.*412C>A) c.276C>A (p.Pro92=) c.612C>A (p.Pro204=) | |
6 | g.31933949C= | CA1619369928 | C2 | c.513C= (p.Pro171=) c.330C= (p.Pro110=) c.699C= (p.Pro233=) c.194C= (p.Pro65=) c.294C= (p.Pro98=) n.502C= n.637C= c.303C= (p.Pro101=) c.293C= c.111+166C= (n.111+166C=) c.443-3370C= (n.443-3370C=) c.*412C= (n.*412C=) c.276C= (p.Pro92=) c.612C= (p.Pro204=) | |
6 | g.31933949C>G | CA363366662 | C2 | c.513C>G (p.Pro171=) c.330C>G (p.Pro110=) c.699C>G (p.Pro233=) c.194C>G (p.Pro65Arg) c.294C>G (p.Pro98=) n.502C>G n.637C>G c.303C>G (p.Pro101=) c.293C>G c.111+166C>G (n.111+166C>G) c.443-3370C>G (n.443-3370C>G) c.*412C>G (n.*412C>G) c.276C>G (p.Pro92=) c.612C>G (p.Pro204=) | |
6 | g.31933949C>T | CA3727472 | C2 | c.513C>T (p.Pro171=) c.330C>T (p.Pro110=) c.699C>T (p.Pro233=) c.194C>T (p.Pro65Leu) c.294C>T (p.Pro98=) n.502C>T n.637C>T c.303C>T (p.Pro101=) c.293C>T c.111+166C>T (n.111+166C>T) c.443-3370C>T (n.443-3370C>T) c.*412C>T (n.*412C>T) c.276C>T (p.Pro92=) c.612C>T (p.Pro204=) | dbSNP ExAC gnomAD v2 |
6 | g.31933950A>C | CA363366676 | C2 | c.514A>C (p.Thr172Pro) c.331A>C (p.Thr111Pro) c.700A>C (p.Thr234Pro) c.195A>C (p.Pro65=) c.295A>C (p.Thr99Pro) n.503A>C n.638A>C c.304A>C (p.Thr102Pro) c.294A>C c.111+167A>C (n.111+167A>C) c.443-3369A>C (n.443-3369A>C) c.*413A>C (n.*413A>C) c.277A>C (p.Thr93Pro) c.613A>C (p.Thr205Pro) | |
6 | g.31933950A>G | CA363366673 | C2 | c.514A>G (p.Thr172Ala) c.331A>G (p.Thr111Ala) c.700A>G (p.Thr234Ala) c.195A>G (p.Pro65=) c.295A>G (p.Thr99Ala) n.503A>G n.638A>G c.304A>G (p.Thr102Ala) c.294A>G c.111+167A>G (n.111+167A>G) c.443-3369A>G (n.443-3369A>G) c.*413A>G (n.*413A>G) c.277A>G (p.Thr93Ala) c.613A>G (p.Thr205Ala) | |
6 | g.31933950A>T | CA363366671 | C2 | c.514A>T (p.Thr172Ser) c.331A>T (p.Thr111Ser) c.700A>T (p.Thr234Ser) c.195A>T (p.Pro65=) c.295A>T (p.Thr99Ser) n.503A>T n.638A>T c.304A>T (p.Thr102Ser) c.294A>T c.111+167A>T (n.111+167A>T) c.443-3369A>T (n.443-3369A>T) c.*413A>T (n.*413A>T) c.277A>T (p.Thr93Ser) c.613A>T (p.Thr205Ser) | |
6 | g.31933951C>A | CA363366695 | C2 | c.515C>A (p.Thr172Asn) c.332C>A (p.Thr111Asn) c.701C>A (p.Thr234Asn) c.196C>A (p.Pro66Thr) c.296C>A (p.Thr99Asn) n.504C>A n.639C>A c.305C>A (p.Thr102Asn) c.295C>A c.111+168C>A (n.111+168C>A) c.443-3368C>A (n.443-3368C>A) c.*414C>A (n.*414C>A) c.278C>A (p.Thr93Asn) c.614C>A (p.Thr205Asn) | |
6 | g.31933951C>G | CA363366698 | C2 | c.515C>G (p.Thr172Ser) c.332C>G (p.Thr111Ser) c.701C>G (p.Thr234Ser) c.196C>G (p.Pro66Ala) c.296C>G (p.Thr99Ser) n.504C>G n.639C>G c.305C>G (p.Thr102Ser) c.295C>G c.111+168C>G (n.111+168C>G) c.443-3368C>G (n.443-3368C>G) c.*414C>G (n.*414C>G) c.278C>G (p.Thr93Ser) c.614C>G (p.Thr205Ser) | |
6 | g.31933951C>T | CA363366701 | C2 | c.515C>T (p.Thr172Ile) c.332C>T (p.Thr111Ile) c.701C>T (p.Thr234Ile) c.196C>T (p.Pro66Ser) c.296C>T (p.Thr99Ile) n.504C>T n.639C>T c.305C>T (p.Thr102Ile) c.295C>T c.111+168C>T (n.111+168C>T) c.443-3368C>T (n.443-3368C>T) c.*414C>T (n.*414C>T) c.278C>T (p.Thr93Ile) c.614C>T (p.Thr205Ile) | |
6 | g.31933952C>A | CA363366709 | C2 | c.516C>A (p.Thr172=) c.333C>A (p.Thr111=) c.702C>A (p.Thr234=) c.197C>A (p.Pro66His) c.297C>A (p.Thr99=) n.505C>A n.640C>A c.306C>A (p.Thr102=) c.296C>A c.111+169C>A (n.111+169C>A) c.443-3367C>A (n.443-3367C>A) c.*415C>A (n.*415C>A) c.279C>A (p.Thr93=) c.615C>A (p.Thr205=) | |
6 | g.31933952C= | CA1619369929 | C2 | c.516C= (p.Thr172=) c.333C= (p.Thr111=) c.702C= (p.Thr234=) c.197C= (p.Pro66=) c.297C= (p.Thr99=) n.505C= n.640C= c.306C= (p.Thr102=) c.296C= c.111+169C= (n.111+169C=) c.443-3367C= (n.443-3367C=) c.*415C= (n.*415C=) c.279C= (p.Thr93=) c.615C= (p.Thr205=) | |
6 | g.31933952C>G | CA363366710 | C2 | c.516C>G (p.Thr172=) c.333C>G (p.Thr111=) c.702C>G (p.Thr234=) c.197C>G (p.Pro66Arg) c.297C>G (p.Thr99=) n.505C>G n.640C>G c.306C>G (p.Thr102=) c.296C>G c.111+169C>G (n.111+169C>G) c.443-3367C>G (n.443-3367C>G) c.*415C>G (n.*415C>G) c.279C>G (p.Thr93=) c.615C>G (p.Thr205=) | gnomAD v4 |
6 | g.31933952C>T | CA363366712 | C2 | c.516C>T (p.Thr172=) c.333C>T (p.Thr111=) c.702C>T (p.Thr234=) c.197C>T (p.Pro66Leu) c.297C>T (p.Thr99=) n.505C>T n.640C>T c.306C>T (p.Thr102=) c.296C>T c.111+169C>T (n.111+169C>T) c.443-3367C>T (n.443-3367C>T) c.*415C>T (n.*415C>T) c.279C>T (p.Thr93=) c.615C>T (p.Thr205=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933953C>A | CA363366716 | C2 | c.517C>A (p.Gln173Lys) c.334C>A (p.Gln112Lys) c.703C>A (p.Gln235Lys) c.198C>A (p.Pro66=) c.298C>A (p.Gln100Lys) n.506C>A n.641C>A c.307C>A (p.Gln103Lys) c.297C>A c.111+170C>A (n.111+170C>A) c.443-3366C>A (n.443-3366C>A) c.*416C>A (n.*416C>A) c.280C>A (p.Gln94Lys) c.616C>A (p.Gln206Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933953C= | CA1619369930 | C2 | c.517C= (p.Gln173=) c.334C= (p.Gln112=) c.703C= (p.Gln235=) c.198C= (p.Pro66=) c.298C= (p.Gln100=) n.506C= n.641C= c.307C= (p.Gln103=) c.297C= c.111+170C= (n.111+170C=) c.443-3366C= (n.443-3366C=) c.*416C= (n.*416C=) c.280C= (p.Gln94=) c.616C= (p.Gln206=) | |
6 | g.31933953C>G | CA363366717 | C2 | c.517C>G (p.Gln173Glu) c.334C>G (p.Gln112Glu) c.703C>G (p.Gln235Glu) c.198C>G (p.Pro66=) c.298C>G (p.Gln100Glu) n.506C>G n.641C>G c.307C>G (p.Gln103Glu) c.297C>G c.111+170C>G (n.111+170C>G) c.443-3366C>G (n.443-3366C>G) c.*416C>G (n.*416C>G) c.280C>G (p.Gln94Glu) c.616C>G (p.Gln206Glu) | |
6 | g.31933953C>T | CA363366721 | C2 | c.517C>T (p.Gln173Ter) c.334C>T (p.Gln112Ter) c.703C>T (p.Gln235Ter) c.198C>T (p.Pro66=) c.298C>T (p.Gln100Ter) n.506C>T n.641C>T c.307C>T (p.Gln103Ter) c.297C>T c.111+170C>T (n.111+170C>T) c.443-3366C>T (n.443-3366C>T) c.*416C>T (n.*416C>T) c.280C>T (p.Gln94Ter) c.616C>T (p.Gln206Ter) | |
6 | g.31933954A= | CA1619369931 | C2 | c.518A= (p.Gln173=) c.335A= (p.Gln112=) c.704A= (p.Gln235=) c.199A= (p.Arg67=) c.299A= (p.Gln100=) n.507A= n.642A= c.308A= (p.Gln103=) c.298A= c.111+171A= (n.111+171A=) c.443-3365A= (n.443-3365A=) c.*417A= (n.*417A=) c.281A= (p.Gln94=) c.617A= (p.Gln206=) | |
6 | g.31933954A>C | CA363366724 | C2 | c.518A>C (p.Gln173Pro) c.335A>C (p.Gln112Pro) c.704A>C (p.Gln235Pro) c.199A>C (p.Arg67=) c.299A>C (p.Gln100Pro) n.507A>C n.642A>C c.308A>C (p.Gln103Pro) c.298A>C c.111+171A>C (n.111+171A>C) c.443-3365A>C (n.443-3365A>C) c.*417A>C (n.*417A>C) c.281A>C (p.Gln94Pro) c.617A>C (p.Gln206Pro) | |
6 | g.31933954A>G | CA3727473 | C2 | c.518A>G (p.Gln173Arg) c.335A>G (p.Gln112Arg) c.704A>G (p.Gln235Arg) c.199A>G (p.Arg67Gly) c.299A>G (p.Gln100Arg) n.507A>G n.642A>G c.308A>G (p.Gln103Arg) c.298A>G c.111+171A>G (n.111+171A>G) c.443-3365A>G (n.443-3365A>G) c.*417A>G (n.*417A>G) c.281A>G (p.Gln94Arg) c.617A>G (p.Gln206Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.31933954A>T | CA363366727 | C2 | c.518A>T (p.Gln173Leu) c.335A>T (p.Gln112Leu) c.704A>T (p.Gln235Leu) c.199A>T (p.Arg67Ter) c.299A>T (p.Gln100Leu) n.507A>T n.642A>T c.308A>T (p.Gln103Leu) c.298A>T c.111+171A>T (n.111+171A>T) c.443-3365A>T (n.443-3365A>T) c.*417A>T (n.*417A>T) c.281A>T (p.Gln94Leu) c.617A>T (p.Gln206Leu) | |
6 | g.31933955G>A | CA363366730 | C2 | c.519G>A (p.Gln173=) c.336G>A (p.Gln112=) c.705G>A (p.Gln235=) c.200G>A (p.Arg67Lys) c.300G>A (p.Gln100=) n.508G>A n.643G>A c.309G>A (p.Gln103=) c.299G>A c.111+172G>A (n.111+172G>A) c.443-3364G>A (n.443-3364G>A) c.*418G>A (n.*418G>A) c.282G>A (p.Gln94=) c.618G>A (p.Gln206=) | |
6 | g.31933955G>C | CA363366735 | C2 | c.519G>C (p.Gln173His) c.336G>C (p.Gln112His) c.705G>C (p.Gln235His) c.200G>C (p.Arg67Thr) c.300G>C (p.Gln100His) n.508G>C n.643G>C c.309G>C (p.Gln103His) c.299G>C c.111+172G>C (n.111+172G>C) c.443-3364G>C (n.443-3364G>C) c.*418G>C (n.*418G>C) c.282G>C (p.Gln94His) c.618G>C (p.Gln206His) | |
6 | g.31933955G>T | CA363366732 | C2 | c.519G>T (p.Gln173His) c.336G>T (p.Gln112His) c.705G>T (p.Gln235His) c.200G>T (p.Arg67Ile) c.300G>T (p.Gln100His) n.508G>T n.643G>T c.309G>T (p.Gln103His) c.299G>T c.111+172G>T (n.111+172G>T) c.443-3364G>T (n.443-3364G>T) c.*418G>T (n.*418G>T) c.282G>T (p.Gln94His) c.618G>T (p.Gln206His) | |
6 | g.31933956A>C | CA363366739 | C2 | c.520A>C (p.Lys174Gln) c.337A>C (p.Lys113Gln) c.706A>C (p.Lys236Gln) c.201A>C (p.Arg67Ser) c.301A>C (p.Lys101Gln) n.509A>C n.644A>C c.310A>C (p.Lys104Gln) c.300A>C c.111+173A>C (n.111+173A>C) c.443-3363A>C (n.443-3363A>C) c.*419A>C (n.*419A>C) c.283A>C (p.Lys95Gln) c.619A>C (p.Lys207Gln) | |
6 | g.31933956A>G | CA363366743 | C2 | c.520A>G (p.Lys174Glu) c.337A>G (p.Lys113Glu) c.706A>G (p.Lys236Glu) c.201A>G (p.Arg67=) c.301A>G (p.Lys101Glu) n.509A>G n.644A>G c.310A>G (p.Lys104Glu) c.300A>G c.111+173A>G (n.111+173A>G) c.443-3363A>G (n.443-3363A>G) c.*419A>G (n.*419A>G) c.283A>G (p.Lys95Glu) c.619A>G (p.Lys207Glu) | |
6 | g.31933956A>T | CA363366741 | C2 | c.520A>T (p.Lys174Ter) c.337A>T (p.Lys113Ter) c.706A>T (p.Lys236Ter) c.201A>T (p.Arg67Ser) c.301A>T (p.Lys101Ter) n.509A>T n.644A>T c.310A>T (p.Lys104Ter) c.300A>T c.111+173A>T (n.111+173A>T) c.443-3363A>T (n.443-3363A>T) c.*419A>T (n.*419A>T) c.283A>T (p.Lys95Ter) c.619A>T (p.Lys207Ter) | |
6 | g.31933957A>C | CA363366747 | C2 | c.521A>C (p.Lys174Thr) c.338A>C (p.Lys113Thr) c.707A>C (p.Lys236Thr) c.202A>C (p.Arg68=) c.302A>C (p.Lys101Thr) n.510A>C n.645A>C c.311A>C (p.Lys104Thr) c.301A>C c.111+174A>C (n.111+174A>C) c.443-3362A>C (n.443-3362A>C) c.*420A>C (n.*420A>C) c.284A>C (p.Lys95Thr) c.620A>C (p.Lys207Thr) | |
6 | g.31933957A>G | CA363366751 | C2 | c.521A>G (p.Lys174Arg) c.338A>G (p.Lys113Arg) c.707A>G (p.Lys236Arg) c.202A>G (p.Arg68Gly) c.302A>G (p.Lys101Arg) n.510A>G n.645A>G c.311A>G (p.Lys104Arg) c.301A>G c.111+174A>G (n.111+174A>G) c.443-3362A>G (n.443-3362A>G) c.*420A>G (n.*420A>G) c.284A>G (p.Lys95Arg) c.620A>G (p.Lys207Arg) | gnomAD v4 |
6 | g.31933957A>T | CA363366749 | C2 | c.521A>T (p.Lys174Met) c.338A>T (p.Lys113Met) c.707A>T (p.Lys236Met) c.202A>T (p.Arg68Ter) c.302A>T (p.Lys101Met) n.510A>T n.645A>T c.311A>T (p.Lys104Met) c.301A>T c.111+174A>T (n.111+174A>T) c.443-3362A>T (n.443-3362A>T) c.*420A>T (n.*420A>T) c.284A>T (p.Lys95Met) c.620A>T (p.Lys207Met) | |
6 | g.31933958G>A | CA363366756 | C2 | c.522G>A (p.Lys174=) c.339G>A (p.Lys113=) c.708G>A (p.Lys236=) c.203G>A (p.Arg68Lys) c.303G>A (p.Lys101=) n.511G>A n.646G>A c.312G>A (p.Lys104=) c.302G>A c.111+175G>A (n.111+175G>A) c.443-3361G>A (n.443-3361G>A) c.*421G>A (n.*421G>A) c.285G>A (p.Lys95=) c.621G>A (p.Lys207=) | |
6 | g.31933958G>C | CA363366761 | C2 | c.522G>C (p.Lys174Asn) c.339G>C (p.Lys113Asn) c.708G>C (p.Lys236Asn) c.203G>C (p.Arg68Thr) c.303G>C (p.Lys101Asn) n.511G>C n.646G>C c.312G>C (p.Lys104Asn) c.302G>C c.111+175G>C (n.111+175G>C) c.443-3361G>C (n.443-3361G>C) c.*421G>C (n.*421G>C) c.285G>C (p.Lys95Asn) c.621G>C (p.Lys207Asn) | |
6 | g.31933958G>T | CA363366759 | C2 | c.522G>T (p.Lys174Asn) c.339G>T (p.Lys113Asn) c.708G>T (p.Lys236Asn) c.203G>T (p.Arg68Ile) c.303G>T (p.Lys101Asn) n.511G>T n.646G>T c.312G>T (p.Lys104Asn) c.302G>T c.111+175G>T (n.111+175G>T) c.443-3361G>T (n.443-3361G>T) c.*421G>T (n.*421G>T) c.285G>T (p.Lys95Asn) c.621G>T (p.Lys207Asn) | gnomAD v4 |
6 | g.31933959A>C | CA363366767 | C2 | c.523A>C (p.Thr175Pro) c.340A>C (p.Thr114Pro) c.709A>C (p.Thr237Pro) c.204A>C (p.Arg68Ser) c.304A>C (p.Thr102Pro) n.512A>C n.647A>C c.313A>C (p.Thr105Pro) c.303A>C c.111+176A>C (n.111+176A>C) c.443-3360A>C (n.443-3360A>C) c.*422A>C (n.*422A>C) c.286A>C (p.Thr96Pro) c.622A>C (p.Thr208Pro) | |
6 | g.31933959A>G | CA363366770 | C2 | c.523A>G (p.Thr175Ala) c.340A>G (p.Thr114Ala) c.709A>G (p.Thr237Ala) c.204A>G (p.Arg68=) c.304A>G (p.Thr102Ala) n.512A>G n.647A>G c.313A>G (p.Thr105Ala) c.303A>G c.111+176A>G (n.111+176A>G) c.443-3360A>G (n.443-3360A>G) c.*422A>G (n.*422A>G) c.286A>G (p.Thr96Ala) c.622A>G (p.Thr208Ala) | |
6 | g.31933959A>T | CA363366773 | C2 | c.523A>T (p.Thr175Ser) c.340A>T (p.Thr114Ser) c.709A>T (p.Thr237Ser) c.204A>T (p.Arg68Ser) c.304A>T (p.Thr102Ser) n.512A>T n.647A>T c.313A>T (p.Thr105Ser) c.303A>T c.111+176A>T (n.111+176A>T) c.443-3360A>T (n.443-3360A>T) c.*422A>T (n.*422A>T) c.286A>T (p.Thr96Ser) c.622A>T (p.Thr208Ser) | |
6 | g.31933960C>A | CA363366780 | C2 | c.524C>A (p.Thr175Lys) c.341C>A (p.Thr114Lys) c.710C>A (p.Thr237Lys) c.205C>A (p.Gln69Lys) c.305C>A (p.Thr102Lys) n.513C>A n.648C>A c.314C>A (p.Thr105Lys) c.304C>A c.111+177C>A (n.111+177C>A) c.443-3359C>A (n.443-3359C>A) c.*423C>A (n.*423C>A) c.287C>A (p.Thr96Lys) c.623C>A (p.Thr208Lys) | |
6 | g.31933960C>G | CA363366785 | C2 | c.524C>G (p.Thr175Arg) c.341C>G (p.Thr114Arg) c.710C>G (p.Thr237Arg) c.205C>G (p.Gln69Glu) c.305C>G (p.Thr102Arg) n.513C>G n.648C>G c.314C>G (p.Thr105Arg) c.304C>G c.111+177C>G (n.111+177C>G) c.443-3359C>G (n.443-3359C>G) c.*423C>G (n.*423C>G) c.287C>G (p.Thr96Arg) c.623C>G (p.Thr208Arg) | |
6 | g.31933960C>T | CA363366786 | C2 | c.524C>T (p.Thr175Ile) c.341C>T (p.Thr114Ile) c.710C>T (p.Thr237Ile) c.205C>T (p.Gln69Ter) c.305C>T (p.Thr102Ile) n.513C>T n.648C>T c.314C>T (p.Thr105Ile) c.304C>T c.111+177C>T (n.111+177C>T) c.443-3359C>T (n.443-3359C>T) c.*423C>T (n.*423C>T) c.287C>T (p.Thr96Ile) c.623C>T (p.Thr208Ile) | |
6 | g.31933961A= | CA1619369932 | C2 | c.525A= (p.Thr175=) c.342A= (p.Thr114=) c.711A= (p.Thr237=) c.206A= (p.Gln69=) c.306A= (p.Thr102=) n.514A= n.649A= c.315A= (p.Thr105=) c.305A= c.111+178A= (n.111+178A=) c.443-3358A= (n.443-3358A=) c.*424A= (n.*424A=) c.288A= (p.Thr96=) c.624A= (p.Thr208=) | |
6 | g.31933961A>C | CA363366790 | C2 | c.525A>C (p.Thr175=) c.342A>C (p.Thr114=) c.711A>C (p.Thr237=) c.206A>C (p.Gln69Pro) c.306A>C (p.Thr102=) n.514A>C n.649A>C c.315A>C (p.Thr105=) c.305A>C c.111+178A>C (n.111+178A>C) c.443-3358A>C (n.443-3358A>C) c.*424A>C (n.*424A>C) c.288A>C (p.Thr96=) c.624A>C (p.Thr208=) | gnomAD v4 |
6 | g.31933961A>G | CA363366792 | C2 | c.525A>G (p.Thr175=) c.342A>G (p.Thr114=) c.711A>G (p.Thr237=) c.206A>G (p.Gln69Arg) c.306A>G (p.Thr102=) n.514A>G n.649A>G c.315A>G (p.Thr105=) c.305A>G c.111+178A>G (n.111+178A>G) c.443-3358A>G (n.443-3358A>G) c.*424A>G (n.*424A>G) c.288A>G (p.Thr96=) c.624A>G (p.Thr208=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31933961A>T | CA363366802 | C2 | c.525A>T (p.Thr175=) c.342A>T (p.Thr114=) c.711A>T (p.Thr237=) c.206A>T (p.Gln69Leu) c.306A>T (p.Thr102=) n.514A>T n.649A>T c.315A>T (p.Thr105=) c.305A>T c.111+178A>T (n.111+178A>T) c.443-3358A>T (n.443-3358A>T) c.*424A>T (n.*424A>T) c.288A>T (p.Thr96=) c.624A>T (p.Thr208=) | |
6 | g.31933962A>C | CA363366807 | C2 | c.526A>C (p.Lys176Gln) c.343A>C (p.Lys115Gln) c.712A>C (p.Lys238Gln) c.207A>C (p.Gln69His) c.307A>C (p.Lys103Gln) n.515A>C n.650A>C c.316A>C (p.Lys106Gln) c.306A>C c.111+179A>C (n.111+179A>C) c.443-3357A>C (n.443-3357A>C) c.*425A>C (n.*425A>C) c.289A>C (p.Lys97Gln) c.625A>C (p.Lys209Gln) | |
6 | g.31933962A>G | CA363366809 | C2 | c.526A>G (p.Lys176Glu) c.343A>G (p.Lys115Glu) c.712A>G (p.Lys238Glu) c.207A>G (p.Gln69=) c.307A>G (p.Lys103Glu) n.515A>G n.650A>G c.316A>G (p.Lys106Glu) c.306A>G c.111+179A>G (n.111+179A>G) c.443-3357A>G (n.443-3357A>G) c.*425A>G (n.*425A>G) c.289A>G (p.Lys97Glu) c.625A>G (p.Lys209Glu) | |
6 | g.31933962A>T | CA363366812 | C2 | c.526A>T (p.Lys176Ter) c.343A>T (p.Lys115Ter) c.712A>T (p.Lys238Ter) c.207A>T (p.Gln69His) c.307A>T (p.Lys103Ter) n.515A>T n.650A>T c.316A>T (p.Lys106Ter) c.306A>T c.111+179A>T (n.111+179A>T) c.443-3357A>T (n.443-3357A>T) c.*425A>T (n.*425A>T) c.289A>T (p.Lys97Ter) c.625A>T (p.Lys209Ter) | |
6 | g.31933963A>C | CA363366814 | C2 | c.527A>C (p.Lys176Thr) c.344A>C (p.Lys115Thr) c.713A>C (p.Lys238Thr) c.208A>C (p.Arg70=) c.308A>C (p.Lys103Thr) n.516A>C n.651A>C c.317A>C (p.Lys106Thr) c.307A>C c.111+180A>C (n.111+180A>C) c.443-3356A>C (n.443-3356A>C) c.*426A>C (n.*426A>C) c.290A>C (p.Lys97Thr) c.626A>C (p.Lys209Thr) | |
6 | g.31933963A>G | CA363366817 | C2 | c.527A>G (p.Lys176Arg) c.344A>G (p.Lys115Arg) c.713A>G (p.Lys238Arg) c.208A>G (p.Arg70Gly) c.308A>G (p.Lys103Arg) n.516A>G n.651A>G c.317A>G (p.Lys106Arg) c.307A>G c.111+180A>G (n.111+180A>G) c.443-3356A>G (n.443-3356A>G) c.*426A>G (n.*426A>G) c.290A>G (p.Lys97Arg) c.626A>G (p.Lys209Arg) | |
6 | g.31933963A>T | CA363366815 | C2 | c.527A>T (p.Lys176Met) c.344A>T (p.Lys115Met) c.713A>T (p.Lys238Met) c.208A>T (p.Arg70Trp) c.308A>T (p.Lys103Met) n.516A>T n.651A>T c.317A>T (p.Lys106Met) c.307A>T c.111+180A>T (n.111+180A>T) c.443-3356A>T (n.443-3356A>T) c.*426A>T (n.*426A>T) c.290A>T (p.Lys97Met) c.626A>T (p.Lys209Met) | |
6 | g.31933964G>A | CA363366819 | C2 | c.528G>A (p.Lys176=) c.345G>A (p.Lys115=) c.714G>A (p.Lys238=) c.209G>A (p.Arg70Lys) c.309G>A (p.Lys103=) n.517G>A n.652G>A c.318G>A (p.Lys106=) c.308G>A c.111+181G>A (n.111+181G>A) c.443-3355G>A (n.443-3355G>A) c.*427G>A (n.*427G>A) c.291G>A (p.Lys97=) c.627G>A (p.Lys209=) | |
6 | g.31933964G>C | CA363366823 | C2 | c.528G>C (p.Lys176Asn) c.345G>C (p.Lys115Asn) c.714G>C (p.Lys238Asn) c.209G>C (p.Arg70Thr) c.309G>C (p.Lys103Asn) n.517G>C n.652G>C c.318G>C (p.Lys106Asn) c.308G>C c.111+181G>C (n.111+181G>C) c.443-3355G>C (n.443-3355G>C) c.*427G>C (n.*427G>C) c.291G>C (p.Lys97Asn) c.627G>C (p.Lys209Asn) | |
6 | g.31933964G>T | CA363366826 | C2 | c.528G>T (p.Lys176Asn) c.345G>T (p.Lys115Asn) c.714G>T (p.Lys238Asn) c.209G>T (p.Arg70Met) c.309G>T (p.Lys103Asn) n.517G>T n.652G>T c.318G>T (p.Lys106Asn) c.308G>T c.111+181G>T (n.111+181G>T) c.443-3355G>T (n.443-3355G>T) c.*427G>T (n.*427G>T) c.291G>T (p.Lys97Asn) c.627G>T (p.Lys209Asn) | |
6 | g.31933965G>A | CA363366835 | C2 | c.529G>A (p.Glu177Lys) c.346G>A (p.Asp116Asn) c.715G>A (p.Glu239Lys) c.210G>A (p.Arg70=) c.310G>A (p.Glu104Lys) n.518G>A n.653G>A c.319G>A (p.Glu107Lys) c.309G>A c.346G>A (p.Glu116Lys) c.529G>A (p.Asp177Asn) c.111+182G>A (n.111+182G>A) c.443-3354G>A (n.443-3354G>A) c.*428G>A (n.*428G>A) c.292G>A (p.Glu98Lys) c.628G>A (p.Glu210Lys) | COSMIC |
6 | g.31933965G>C | CA363366836 | C2 | c.529G>C (p.Glu177Gln) c.346G>C (p.Asp116His) c.715G>C (p.Glu239Gln) c.210G>C (p.Arg70Ser) c.310G>C (p.Glu104Gln) n.518G>C n.653G>C c.319G>C (p.Glu107Gln) c.309G>C c.346G>C (p.Glu116Gln) c.529G>C (p.Asp177His) c.111+182G>C (n.111+182G>C) c.443-3354G>C (n.443-3354G>C) c.*428G>C (n.*428G>C) c.292G>C (p.Glu98Gln) c.628G>C (p.Glu210Gln) | |
6 | g.31933965G>T | CA363366839 | C2 | c.529G>T (p.Glu177Ter) c.346G>T (p.Asp116Tyr) c.715G>T (p.Glu239Ter) c.210G>T (p.Arg70Ser) c.310G>T (p.Glu104Ter) n.518G>T n.653G>T c.319G>T (p.Glu107Ter) c.309G>T c.346G>T (p.Glu116Ter) c.529G>T (p.Asp177Tyr) c.111+182G>T (n.111+182G>T) c.443-3354G>T (n.443-3354G>T) c.*428G>T (n.*428G>T) c.292G>T (p.Glu98Ter) c.628G>T (p.Glu210Ter) | |
6 | g.31933965_31933966insAAAGCCTGGGCCGTAAAATCCAAATCCAGC | CA2711461123 | C2 | c.529_529+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.529_529+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.346_346+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.346_346+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.715_715+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.715_715+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.210_210+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.210_210+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.310_310+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.310_310+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) n.518_519insAAAGCCTGGGCCGTAAAATCCAAATCCAGC n.653_654insAAAGCCTGGGCCGTAAAATCCAAATCCAGC c.319_319+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.319_319+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.309_309+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC c.111+182_111+183insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.111+182_111+183insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.443-3354_443-3353insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.443-3354_443-3353insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.*428_*428+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.*428_*428+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.292_292+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.292_292+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) c.628_628+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC (n.628_628+1insAAAGCCTGGGCCGTAAAATCCAAATCCAGC) | dbSNP |
6 | g.31933966G>A | CA363366841 | C2 | c.529+1G>A (n.529+1G>A) c.346+1G>A (n.346+1G>A) c.715+1G>A (n.715+1G>A) c.210+1G>A (n.210+1G>A) c.310+1G>A (n.310+1G>A) n.519G>A n.654G>A c.319+1G>A (n.319+1G>A) c.309+1G>A c.111+183G>A (n.111+183G>A) c.443-3353G>A (n.443-3353G>A) c.*428+1G>A (n.*428+1G>A) c.292+1G>A (n.292+1G>A) c.628+1G>A (n.628+1G>A) | dbSNP |
6 | g.31933966G>C | CA363366846 | C2 | c.529+1G>C (n.529+1G>C) c.346+1G>C (n.346+1G>C) c.715+1G>C (n.715+1G>C) c.210+1G>C (n.210+1G>C) c.310+1G>C (n.310+1G>C) n.519G>C n.654G>C c.319+1G>C (n.319+1G>C) c.309+1G>C c.111+183G>C (n.111+183G>C) c.443-3353G>C (n.443-3353G>C) c.*428+1G>C (n.*428+1G>C) c.292+1G>C (n.292+1G>C) c.628+1G>C (n.628+1G>C) | |
6 | g.31933966G= | CA1619369933 | C2 | c.529+1G= (n.529+1G=) c.346+1G= (n.346+1G=) c.715+1G= (n.715+1G=) c.210+1G= (n.210+1G=) c.310+1G= (n.310+1G=) n.519G= n.654G= c.319+1G= (n.319+1G=) c.309+1G= c.111+183G= (n.111+183G=) c.443-3353G= (n.443-3353G=) c.*428+1G= (n.*428+1G=) c.292+1G= (n.292+1G=) c.628+1G= (n.628+1G=) | |
6 | g.31933966G>T | CA363366849 | C2 | c.529+1G>T (n.529+1G>T) c.346+1G>T (n.346+1G>T) c.715+1G>T (n.715+1G>T) c.210+1G>T (n.210+1G>T) c.310+1G>T (n.310+1G>T) n.519G>T n.654G>T c.319+1G>T (n.319+1G>T) c.309+1G>T c.111+183G>T (n.111+183G>T) c.443-3353G>T (n.443-3353G>T) c.*428+1G>T (n.*428+1G>T) c.292+1G>T (n.292+1G>T) c.628+1G>T (n.628+1G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933967T>A | CA363366856 | C2 | c.529+2T>A (n.529+2T>A) c.346+2T>A (n.346+2T>A) c.715+2T>A (n.715+2T>A) c.210+2T>A (n.210+2T>A) c.310+2T>A (n.310+2T>A) n.520T>A n.655T>A c.319+2T>A (n.319+2T>A) c.309+2T>A c.111+184T>A (n.111+184T>A) c.443-3352T>A (n.443-3352T>A) c.*428+2T>A (n.*428+2T>A) c.292+2T>A (n.292+2T>A) c.628+2T>A (n.628+2T>A) | |
6 | g.31933967T>C | CA363366854 | C2 | c.529+2T>C (n.529+2T>C) c.346+2T>C (n.346+2T>C) c.715+2T>C (n.715+2T>C) c.210+2T>C (n.210+2T>C) c.310+2T>C (n.310+2T>C) n.520T>C n.655T>C c.319+2T>C (n.319+2T>C) c.309+2T>C c.111+184T>C (n.111+184T>C) c.443-3352T>C (n.443-3352T>C) c.*428+2T>C (n.*428+2T>C) c.292+2T>C (n.292+2T>C) c.628+2T>C (n.628+2T>C) | |
6 | g.31933967T>G | CA363366852 | C2 | c.529+2T>G (n.529+2T>G) c.346+2T>G (n.346+2T>G) c.715+2T>G (n.715+2T>G) c.210+2T>G (n.210+2T>G) c.310+2T>G (n.310+2T>G) n.520T>G n.655T>G c.319+2T>G (n.319+2T>G) c.309+2T>G c.111+184T>G (n.111+184T>G) c.443-3352T>G (n.443-3352T>G) c.*428+2T>G (n.*428+2T>G) c.292+2T>G (n.292+2T>G) c.628+2T>G (n.628+2T>G) | |
6 | g.31933970G>C | CA2545344405 | C2 | c.529+5G>C (n.529+5G>C) c.346+5G>C (n.346+5G>C) c.715+5G>C (n.715+5G>C) c.210+5G>C (n.210+5G>C) c.310+5G>C (n.310+5G>C) n.523G>C n.658G>C c.319+5G>C (n.319+5G>C) c.309+5G>C c.111+187G>C (n.111+187G>C) c.443-3349G>C (n.443-3349G>C) c.*428+5G>C (n.*428+5G>C) c.292+5G>C (n.292+5G>C) c.628+5G>C (n.628+5G>C) | |
6 | g.31933970_31933974delinsGTGTT | CA1619369934 | C2 | c.529+5_529+9delinsGTGTT (n.529+5_529+9delinsGTGTT) c.346+5_346+9delinsGTGTT (n.346+5_346+9delinsGTGTT) c.715+5_715+9delinsGTGTT (n.715+5_715+9delinsGTGTT) c.210+5_210+9delinsGTGTT (n.210+5_210+9delinsGTGTT) c.310+5_310+9delinsGTGTT (n.310+5_310+9delinsGTGTT) n.523_527delinsGTGTT c.319+5_319+9delinsGTGTT (n.319+5_319+9delinsGTGTT) c.309+5_309+9delinsGTGTT c.111+187_111+191delinsGTGTT (n.111+187_111+191delinsGTGTT) c.443-3349_443-3345delinsGTGTT (n.443-3349_443-3345delinsGTGTT) c.*428+5_*428+9delinsGTGTT (n.*428+5_*428+9delinsGTGTT) c.292+5_292+9delinsGTGTT (n.292+5_292+9delinsGTGTT) c.628+5_628+9delinsGTGTT (n.628+5_628+9delinsGTGTT) | |
6 | g.31933973_31933976del | CA1619369935 | C2 | c.529+8_529+11del (n.529+8_529+11del) c.346+8_346+11del (n.346+8_346+11del) c.715+8_715+11del (n.715+8_715+11del) c.210+8_210+11del (n.210+8_210+11del) c.310+8_310+11del (n.310+8_310+11del) c.319+8_319+11del (n.319+8_319+11del) c.309+8_309+11del c.111+190_111+193del (n.111+190_111+193del) c.443-3346_443-3343del (n.443-3346_443-3343del) c.*428+8_*428+11del (n.*428+8_*428+11del) c.292+8_292+11del (n.292+8_292+11del) c.628+8_628+11del (n.628+8_628+11del) | dbSNP |
6 | g.31933974T>C | CA2578572156 | C2 | c.529+9T>C (n.529+9T>C) c.346+9T>C (n.346+9T>C) c.715+9T>C (n.715+9T>C) c.210+9T>C (n.210+9T>C) c.310+9T>C (n.310+9T>C) n.527T>C c.319+9T>C (n.319+9T>C) c.309+9T>C c.111+191T>C (n.111+191T>C) c.443-3345T>C (n.443-3345T>C) c.*428+9T>C (n.*428+9T>C) c.292+9T>C (n.292+9T>C) c.628+9T>C (n.628+9T>C) | |
6 | g.31933977A>G | CA2711461151 | C2 | c.529+12A>G (n.529+12A>G) c.346+12A>G (n.346+12A>G) c.715+12A>G (n.715+12A>G) c.210+12A>G (n.210+12A>G) c.310+12A>G (n.310+12A>G) c.319+12A>G (n.319+12A>G) c.309+12A>G c.111+194A>G (n.111+194A>G) c.443-3342A>G (n.443-3342A>G) c.*428+12A>G (n.*428+12A>G) c.292+12A>G (n.292+12A>G) c.628+12A>G (n.628+12A>G) | dbSNP |
6 | g.31933978G>A | CA136884165 | C2 | c.529+13G>A (n.529+13G>A) c.346+13G>A (n.346+13G>A) c.715+13G>A (n.715+13G>A) c.210+13G>A (n.210+13G>A) c.310+13G>A (n.310+13G>A) c.319+13G>A (n.319+13G>A) c.309+13G>A c.111+195G>A (n.111+195G>A) c.443-3341G>A (n.443-3341G>A) c.*428+13G>A (n.*428+13G>A) c.292+13G>A (n.292+13G>A) c.628+13G>A (n.628+13G>A) | dbSNP |
6 | g.31933978G>C | CA823928318 | C2 | c.529+13G>C (n.529+13G>C) c.346+13G>C (n.346+13G>C) c.715+13G>C (n.715+13G>C) c.210+13G>C (n.210+13G>C) c.310+13G>C (n.310+13G>C) c.319+13G>C (n.319+13G>C) c.309+13G>C c.111+195G>C (n.111+195G>C) c.443-3341G>C (n.443-3341G>C) c.*428+13G>C (n.*428+13G>C) c.292+13G>C (n.292+13G>C) c.628+13G>C (n.628+13G>C) | dbSNP |
6 | g.31933978G= | CA1619369937 | C2 | c.529+13G= (n.529+13G=) c.346+13G= (n.346+13G=) c.715+13G= (n.715+13G=) c.210+13G= (n.210+13G=) c.310+13G= (n.310+13G=) c.319+13G= (n.319+13G=) c.309+13G= c.111+195G= (n.111+195G=) c.443-3341G= (n.443-3341G=) c.*428+13G= (n.*428+13G=) c.292+13G= (n.292+13G=) c.628+13G= (n.628+13G=) | |
6 | g.31933978G>T | CA1619369936 | C2 | c.529+13G>T (n.529+13G>T) c.346+13G>T (n.346+13G>T) c.715+13G>T (n.715+13G>T) c.210+13G>T (n.210+13G>T) c.310+13G>T (n.310+13G>T) c.319+13G>T (n.319+13G>T) c.309+13G>T c.111+195G>T (n.111+195G>T) c.443-3341G>T (n.443-3341G>T) c.*428+13G>T (n.*428+13G>T) c.292+13G>T (n.292+13G>T) c.628+13G>T (n.628+13G>T) | dbSNP |
6 | g.31933979G>A | CA2678069606 | C2 | c.529+14G>A (n.529+14G>A) c.346+14G>A (n.346+14G>A) c.715+14G>A (n.715+14G>A) c.210+14G>A (n.210+14G>A) c.310+14G>A (n.310+14G>A) c.319+14G>A (n.319+14G>A) c.309+14G>A c.111+196G>A (n.111+196G>A) c.443-3340G>A (n.443-3340G>A) c.*428+14G>A (n.*428+14G>A) c.292+14G>A (n.292+14G>A) c.628+14G>A (n.628+14G>A) | gnomAD v4 |
6 | g.31933981G>C | CA136884166 | C2 | c.529+16G>C (n.529+16G>C) c.346+16G>C (n.346+16G>C) c.715+16G>C (n.715+16G>C) c.210+16G>C (n.210+16G>C) c.310+16G>C (n.310+16G>C) c.319+16G>C (n.319+16G>C) c.309+16G>C c.111+198G>C (n.111+198G>C) c.443-3338G>C (n.443-3338G>C) c.*428+16G>C (n.*428+16G>C) c.292+16G>C (n.292+16G>C) c.628+16G>C (n.628+16G>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31933981G= | CA1619369938 | C2 | c.529+16G= (n.529+16G=) c.346+16G= (n.346+16G=) c.715+16G= (n.715+16G=) c.210+16G= (n.210+16G=) c.310+16G= (n.310+16G=) c.319+16G= (n.319+16G=) c.309+16G= c.111+198G= (n.111+198G=) c.443-3338G= (n.443-3338G=) c.*428+16G= (n.*428+16G=) c.292+16G= (n.292+16G=) c.628+16G= (n.628+16G=) |