Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.30027143C>A | CA5458213 | JCAD | c.3005G>T (p.Ser1002Ile) c.2591G>T (p.Ser864Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.30027143C= | CA1899184049 | JCAD | c.3005G= (p.Ser1002=) c.2591G= (p.Ser864=) | |
10 | g.30027143C>G | CA5458212 | JCAD | c.3005G>C (p.Ser1002Thr) c.2591G>C (p.Ser864Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30027143C>T | CA376423065 | JCAD | c.3005G>A (p.Ser1002Asn) c.2591G>A (p.Ser864Asn) | |
10 | g.30027144T>A | CA376423066 | JCAD | c.3004A>T (p.Ser1002Cys) c.2590A>T (p.Ser864Cys) | |
10 | g.30027144T>C | CA376423067 | JCAD | c.3004A>G (p.Ser1002Gly) c.2590A>G (p.Ser864Gly) | |
10 | g.30027144T>G | CA376423068 | JCAD | c.3004A>C (p.Ser1002Arg) c.2590A>C (p.Ser864Arg) | |
10 | g.30027145T>A | CA376423070 | JCAD | c.3003A>T (p.Glu1001Asp) c.2589A>T (p.Glu863Asp) | |
10 | g.30027145T>C | CA468974993 | JCAD | c.3003A>G (p.Glu1001=) c.2589A>G (p.Glu863=) | |
10 | g.30027145T>G | CA376423069 | JCAD | c.3003A>C (p.Glu1001Asp) c.2589A>C (p.Glu863Asp) | |
10 | g.30027146T>A | CA376423071 | JCAD | c.3002A>T (p.Glu1001Val) c.2588A>T (p.Glu863Val) | |
10 | g.30027146T>C | CA5458214 | JCAD | c.3002A>G (p.Glu1001Gly) c.2588A>G (p.Glu863Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30027146T>G | CA376423072 | JCAD | c.3002A>C (p.Glu1001Ala) c.2588A>C (p.Glu863Ala) | |
10 | g.30027146T= | CA1899184050 | JCAD | c.3002A= (p.Glu1001=) c.2588A= (p.Glu863=) | |
10 | g.30027147C>A | CA376423073 | JCAD | c.3001G>T (p.Glu1001Ter) c.2587G>T (p.Glu863Ter) | |
10 | g.30027147C= | CA1899184051 | JCAD | c.3001G= (p.Glu1001=) c.2587G= (p.Glu863=) | |
10 | g.30027147C>G | CA376423074 | JCAD | c.3001G>C (p.Glu1001Gln) c.2587G>C (p.Glu863Gln) | dbSNP |
10 | g.30027147C>T | CA376423075 | JCAD | c.3001G>A (p.Glu1001Lys) c.2587G>A (p.Glu863Lys) | COSMIC |
10 | g.30027148C>A | CA376423077 | JCAD | c.3000G>T (p.Gln1000His) c.2586G>T (p.Gln862His) | |
10 | g.30027148C>G | CA376423076 | JCAD | c.3000G>C (p.Gln1000His) c.2586G>C (p.Gln862His) | |
10 | g.30027148C>T | CA468975007 | JCAD | c.3000G>A (p.Gln1000=) c.2586G>A (p.Gln862=) | |
10 | g.30027149T>A | CA376423078 | JCAD | c.2999A>T (p.Gln1000Leu) c.2585A>T (p.Gln862Leu) | |
10 | g.30027149T>C | CA376423079 | JCAD | c.2999A>G (p.Gln1000Arg) c.2585A>G (p.Gln862Arg) | |
10 | g.30027149T>G | CA376423080 | JCAD | c.2999A>C (p.Gln1000Pro) c.2585A>C (p.Gln862Pro) | |
10 | g.30027150G>A | CA376423081 | JCAD | c.2998C>T (p.Gln1000Ter) c.2584C>T (p.Gln862Ter) | |
10 | g.30027150G>C | CA205267785 | JCAD | c.2998C>G (p.Gln1000Glu) c.2584C>G (p.Gln862Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30027150G= | CA1899184052 | JCAD | c.2998C= (p.Gln1000=) c.2584C= (p.Gln862=) | |
10 | g.30027150G>T | CA376423082 | JCAD | c.2998C>A (p.Gln1000Lys) c.2584C>A (p.Gln862Lys) | gnomAD v4 |
10 | g.30027153del | CA2608692320 | JCAD | c.2998del (p.Gln1000ArgfsTer13) c.2584del (p.Gln862ArgfsTer13) | gnomAD v4 |
10 | g.30027151G>A | CA468975016 | JCAD | c.2997C>T (p.Pro999=) c.2583C>T (p.Pro861=) | |
10 | g.30027151G>C | CA468975012 | JCAD | c.2997C>G (p.Pro999=) c.2583C>G (p.Pro861=) | gnomAD v4 |
10 | g.30027151G= | CA1899184053 | JCAD | c.2997C= (p.Pro999=) c.2583C= (p.Pro861=) | |
10 | g.30027151G>T | CA468975015 | JCAD | c.2997C>A (p.Pro999=) c.2583C>A (p.Pro861=) | |
10 | g.30027152G>A | CA5458215 | JCAD | c.2996C>T (p.Pro999Leu) c.2582C>T (p.Pro861Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.30027152G>C | CA376423083 | JCAD | c.2996C>G (p.Pro999Arg) c.2582C>G (p.Pro861Arg) | |
10 | g.30027152G= | CA1899184054 | JCAD | c.2996C= (p.Pro999=) c.2582C= (p.Pro861=) | |
10 | g.30027152G>T | CA376423084 | JCAD | c.2996C>A (p.Pro999His) c.2582C>A (p.Pro861His) | |
10 | g.30027152_30027154dup | CA663642553 | JCAD | c.2994_2996dup (p.Pro999_Gln1000insPro) c.2580_2582dup (p.Pro861_Gln862insPro) | dbSNP |
10 | g.30027153G>A | CA376423085 | JCAD | c.2995C>T (p.Pro999Ser) c.2581C>T (p.Pro861Ser) | gnomAD v4 |
10 | g.30027153G>C | CA376423086 | JCAD | c.2995C>G (p.Pro999Ala) c.2581C>G (p.Pro861Ala) | |
10 | g.30027153G>T | CA376423087 | JCAD | c.2995C>A (p.Pro999Thr) c.2581C>A (p.Pro861Thr) | |
10 | g.30027154C>A | CA376423088 | JCAD | c.2994G>T (p.Glu998Asp) c.2580G>T (p.Glu860Asp) | gnomAD v4 |
10 | g.30027154C>G | CA376423089 | JCAD | c.2994G>C (p.Glu998Asp) c.2580G>C (p.Glu860Asp) | |
10 | g.30027154C>T | CA468975024 | JCAD | c.2994G>A (p.Glu998=) c.2580G>A (p.Glu860=) | |
10 | g.30027155T>A | CA376423090 | JCAD | c.2993A>T (p.Glu998Val) c.2579A>T (p.Glu860Val) | |
10 | g.30027155T>C | CA376423091 | JCAD | c.2993A>G (p.Glu998Gly) c.2579A>G (p.Glu860Gly) | |
10 | g.30027155T>G | CA376423092 | JCAD | c.2993A>C (p.Glu998Ala) c.2579A>C (p.Glu860Ala) | |
10 | g.30027157_30027165del | CA2608692321 | JCAD | c.2985_2993del (p.Pro996_Glu998del) c.2571_2579del (p.Pro858_Glu860del) | gnomAD v4 |
10 | g.30027156C>A | CA376423093 | JCAD | c.2992G>T (p.Glu998Ter) c.2578G>T (p.Glu860Ter) | |
10 | g.30027156C= | CA1899184055 | JCAD | c.2992G= (p.Glu998=) c.2578G= (p.Glu860=) |