Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.75765060_75765065dup | CA2639883349 | GALK1 | c.74_79dup (p.Ala26_Glu27insGlyAla) n.71_76dup n.95_100dup | gnomAD v4 |
17 | g.75765060_75765061delinsGC | CA2275671912 | GALK1 | c.76_77delinsGC (p.Ala26=) n.73_74delinsGC n.97_98delinsGC | |
17 | g.75765061C>A | CA401109940 | GALK1 | c.76G>T (p.Ala26Ser) n.73G>T n.97G>T | gnomAD v4 COSMIC |
17 | g.75765061C>G | CA401109944 | GALK1 | c.76G>C (p.Ala26Pro) n.73G>C n.97G>C | |
17 | g.75765061C>T | CA401109947 | GALK1 | c.76G>A (p.Ala26Thr) n.73G>A n.97G>A | gnomAD v4 |
17 | g.75765061_75765064del | CA2639883357 | GALK1 | c.73_76del (p.Gly25ProfsTer?) n.70_73del n.94_97del | gnomAD v4 |
17 | g.75765064del | CA2275671913 | GALK1 | c.76del (p.Ala26ProfsTer?) n.73del n.97del | dbSNP |
17 | g.75765062C>A | CA501843232 | GALK1 | c.75G>T (p.Gly25=) n.72G>T n.96G>T | |
17 | g.75765062C= | CA2275671914 | GALK1 | c.75G= (p.Gly25=) n.72G= n.96G= | |
17 | g.75765062C>G | CA501843230 | GALK1 | c.75G>C (p.Gly25=) n.72G>C n.96G>C | gnomAD v4 |
17 | g.75765062C>T | CA501843231 | GALK1 | c.75G>A (p.Gly25=) n.72G>A n.96G>A | dbSNP gnomAD v2 |
17 | g.75765063C>A | CA401109952 | GALK1 | c.74G>T (p.Gly25Val) n.71G>T n.95G>T | |
17 | g.75765063C= | CA2275671915 | GALK1 | c.74G= (p.Gly25=) n.71G= n.95G= | |
17 | g.75765063C>G | CA401109963 | GALK1 | c.74G>C (p.Gly25Ala) n.71G>C n.95G>C | gnomAD v4 |
17 | g.75765063C>T | CA8771147 | GALK1 | c.74G>A (p.Gly25Glu) n.71G>A n.95G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.75765064C>A | CA401109978 | GALK1 | c.73G>T (p.Gly25Trp) n.70G>T n.94G>T | gnomAD v4 |
17 | g.75765064C= | CA2275671916 | GALK1 | c.73G= (p.Gly25=) n.70G= n.94G= | |
17 | g.75765064C>G | CA401109977 | GALK1 | c.73G>C (p.Gly25Arg) n.70G>C n.94G>C | |
17 | g.75765064C>T | CA8771148 | GALK1 | c.73G>A (p.Gly25Arg) n.70G>A n.94G>A | dbSNP ExAC gnomAD v2 |
17 | g.75765065G>A | CA501843233 | GALK1 | c.72C>T (p.Phe24=) n.69C>T n.93C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.75765065G>C | CA401109979 | GALK1 | c.72C>G (p.Phe24Leu) n.69C>G n.93C>G | |
17 | g.75765065G= | CA2275671917 | GALK1 | c.72C= (p.Phe24=) n.69C= n.93C= | |
17 | g.75765065G>T | CA401109980 | GALK1 | c.72C>A (p.Phe24Leu) n.69C>A n.93C>A | gnomAD v4 |
17 | g.75765066A>C | CA401109981 | GALK1 | c.71T>G (p.Phe24Cys) n.68T>G n.92T>G | |
17 | g.75765066A>G | CA401109984 | GALK1 | c.71T>C (p.Phe24Ser) n.68T>C n.92T>C | |
17 | g.75765066A>T | CA401109988 | GALK1 | c.71T>A (p.Phe24Tyr) n.68T>A n.92T>A | |
17 | g.75765066_75765069del | CA2639883364 | GALK1 | c.68_71del (p.Glu23AlafsTer?) n.65_68del n.89_92del | gnomAD v4 |
17 | g.75765067A= | CA2275671918 | GALK1 | c.70T= (p.Phe24=) n.67T= n.91T= | |
17 | g.75765067A>C | CA401109993 | GALK1 | c.70T>G (p.Phe24Val) n.67T>G n.91T>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.75765067A>G | CA401110007 | GALK1 | c.70T>C (p.Phe24Leu) n.67T>C n.91T>C | |
17 | g.75765067A>T | CA401110015 | GALK1 | c.70T>A (p.Phe24Ile) n.67T>A n.91T>A | |
17 | g.75765068C>A | CA401110021 | GALK1 | c.69G>T (p.Glu23Asp) n.66G>T n.90G>T | |
17 | g.75765068C>G | CA401110024 | GALK1 | c.69G>C (p.Glu23Asp) n.66G>C n.90G>C | |
17 | g.75765068C>T | CA501843234 | GALK1 | c.69G>A (p.Glu23=) n.66G>A n.90G>A | ClinVar |
17 | g.75765069T>A | CA401110035 | GALK1 | c.68A>T (p.Glu23Val) n.65A>T n.89A>T | |
17 | g.75765069T>C | CA401110037 | GALK1 | c.68A>G (p.Glu23Gly) n.65A>G n.89A>G | gnomAD v4 |
17 | g.75765069T>G | CA401110040 | GALK1 | c.68A>C (p.Glu23Ala) n.65A>C n.89A>C | |
17 | g.75765070C>A | CA401110044 | GALK1 | c.67G>T (p.Glu23Ter) n.64G>T n.88G>T | ClinVar dbSNP gnomAD v4 |
17 | g.75765070C>G | CA401110046 | GALK1 | c.67G>C (p.Glu23Gln) n.64G>C n.88G>C | |
17 | g.75765070C>T | CA401110042 | GALK1 | c.67G>A (p.Glu23Lys) n.64G>A n.88G>A | |
17 | g.75765071C>A | CA401110051 | GALK1 | c.66G>T (p.Glu22Asp) n.63G>T n.87G>T | |
17 | g.75765071C= | CA2275671919 | GALK1 | c.66G= (p.Glu22=) n.63G= n.87G= | |
17 | g.75765071C>G | CA401110055 | GALK1 | c.66G>C (p.Glu22Asp) n.63G>C n.87G>C | |
17 | g.75765071C>T | CA8771149 | GALK1 | c.66G>A (p.Glu22=) n.63G>A n.87G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.75765072T>A | CA401110073 | GALK1 | c.65A>T (p.Glu22Val) n.62A>T n.86A>T | |
17 | g.75765072T>C | CA401110090 | GALK1 | c.65A>G (p.Glu22Gly) n.62A>G n.86A>G | |
17 | g.75765072T>G | CA401110097 | GALK1 | c.65A>C (p.Glu22Ala) n.62A>C n.86A>C | |
17 | g.75765073C>A | CA401110098 | GALK1 | c.64G>T (p.Glu22Ter) n.61G>T n.85G>T | gnomAD v4 |
17 | g.75765073C>G | CA401110099 | GALK1 | c.64G>C (p.Glu22Gln) n.61G>C n.85G>C | gnomAD v4 |
17 | g.75765073C>T | CA401110100 | GALK1 | c.64G>A (p.Glu22Lys) n.61G>A n.85G>A | gnomAD v4 |