Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50908981_50912564del | CA2838031920 | PYGL | c.1621-258_2178-23del c.1519-258_2076-23del | |
14 | g.50908982_50912562del | CA2838147837 | PYGL | c.1621-258_2178-26del c.1519-258_2076-26del | |
14 | g.50909854_50909859del | CA2624826810 | PYGL | c.2177+40_2177+45del (n.2177+40_2177+45del) n.350+40_350+45del c.2075+40_2075+45del (n.2075+40_2075+45del) | gnomAD v4 |
14 | g.50909855A>G | CA2624826819 | PYGL | c.2177+40T>C (n.2177+40T>C) n.350+40T>C c.2075+40T>C (n.2075+40T>C) | gnomAD v4 |
14 | g.50909856G>A | CA2624826821 | PYGL | c.2177+39C>T (n.2177+39C>T) n.350+39C>T c.2075+39C>T (n.2075+39C>T) | gnomAD v4 |
14 | g.50909856G>T | CA2575525313 | PYGL | c.2177+39C>A (n.2177+39C>A) n.350+39C>A c.2075+39C>A (n.2075+39C>A) | |
14 | g.50909859dup | CA2840683950 | PYGL | c.2177+39dup (n.2177+39dup) n.350+39dup c.2075+39dup (n.2075+39dup) | |
14 | g.50909858G>C | CA614275226 | PYGL | c.2177+37C>G (n.2177+37C>G) n.350+37C>G c.2075+37C>G (n.2075+37C>G) | dbSNP gnomAD v2 |
14 | g.50909858G= | CA2136414827 | PYGL | c.2177+37C= (n.2177+37C=) n.350+37C= c.2075+37C= (n.2075+37C=) | |
14 | g.50909859G>A | CA2624826823 | PYGL | c.2177+36C>T (n.2177+36C>T) n.350+36C>T c.2075+36C>T (n.2075+36C>T) | gnomAD v4 |
14 | g.50909860C>T | CA2624826824 | PYGL | c.2177+35G>A (n.2177+35G>A) n.350+35G>A c.2075+35G>A (n.2075+35G>A) | gnomAD v4 |
14 | g.50909861A= | CA2136414829 | PYGL | c.2177+34T= (n.2177+34T=) n.350+34T= c.2075+34T= (n.2075+34T=) | |
14 | g.50909861A>C | CA656114719 | PYGL | c.2177+34T>G (n.2177+34T>G) n.350+34T>G c.2075+34T>G (n.2075+34T>G) | COSMIC |
14 | g.50909861A>G | CA7183206 | PYGL | c.2177+34T>C (n.2177+34T>C) n.350+34T>C c.2075+34T>C (n.2075+34T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909862G>T | CA2575525316 | PYGL | c.2177+33C>A (n.2177+33C>A) n.350+33C>A c.2075+33C>A (n.2075+33C>A) | |
14 | g.50909863T>C | CA2136414832 | PYGL | c.2177+32A>G (n.2177+32A>G) n.350+32A>G c.2075+32A>G (n.2075+32A>G) | dbSNP gnomAD v4 |
14 | g.50909863T= | CA2136414831 | PYGL | c.2177+32A= (n.2177+32A=) n.350+32A= c.2075+32A= (n.2075+32A=) | |
14 | g.50909864C>A | CA614275227 | PYGL | c.2177+31G>T (n.2177+31G>T) n.350+31G>T c.2075+31G>T (n.2075+31G>T) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909864C= | CA2136414834 | PYGL | c.2177+31G= (n.2177+31G=) n.350+31G= c.2075+31G= (n.2075+31G=) | |
14 | g.50909866T>G | CA7183207 | PYGL | c.2177+29A>C (n.2177+29A>C) n.350+29A>C c.2075+29A>C (n.2075+29A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909866T= | CA2136414835 | PYGL | c.2177+29A= (n.2177+29A=) n.350+29A= c.2075+29A= (n.2075+29A=) | |
14 | g.50909867G>A | CA7183208 | PYGL | c.2177+28C>T (n.2177+28C>T) n.350+28C>T c.2075+28C>T (n.2075+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909867G= | CA2136414836 | PYGL | c.2177+28C= (n.2177+28C=) n.350+28C= c.2075+28C= (n.2075+28C=) | |
14 | g.50909868C= | CA2136414838 | PYGL | c.2177+27G= (n.2177+27G=) n.350+27G= c.2075+27G= (n.2075+27G=) | |
14 | g.50909868C>G | CA260821415 | PYGL | c.2177+27G>C (n.2177+27G>C) n.350+27G>C c.2075+27G>C (n.2075+27G>C) | dbSNP |
14 | g.50909868C>T | CA614275228 | PYGL | c.2177+27G>A (n.2177+27G>A) n.350+27G>A c.2075+27G>A (n.2075+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909872G>A | CA7183209 | PYGL | c.2177+23C>T (n.2177+23C>T) n.350+23C>T c.2075+23C>T (n.2075+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909872G= | CA2136414840 | PYGL | c.2177+23C= (n.2177+23C=) n.350+23C= c.2075+23C= (n.2075+23C=) | |
14 | g.50909872G>T | CA706604167 | PYGL | c.2177+23C>A (n.2177+23C>A) n.350+23C>A c.2075+23C>A (n.2075+23C>A) | dbSNP |
14 | g.50909873C>T | CA2624826857 | PYGL | c.2177+22G>A (n.2177+22G>A) n.350+22G>A c.2075+22G>A (n.2075+22G>A) | gnomAD v4 |
14 | g.50909877G>A | CA7183210 | PYGL | c.2177+18C>T (n.2177+18C>T) n.350+18C>T c.2075+18C>T (n.2075+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909877G>C | CA2136414843 | PYGL | c.2177+18C>G (n.2177+18C>G) n.350+18C>G c.2075+18C>G (n.2075+18C>G) | dbSNP |
14 | g.50909877G= | CA2136414842 | PYGL | c.2177+18C= (n.2177+18C=) n.350+18C= c.2075+18C= (n.2075+18C=) | |
14 | g.50909878A= | CA2136414844 | PYGL | c.2177+17T= (n.2177+17T=) n.350+17T= c.2075+17T= (n.2075+17T=) | |
14 | g.50909878A>G | CA7183211 | PYGL | c.2177+17T>C (n.2177+17T>C) n.350+17T>C c.2075+17T>C (n.2075+17T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909879G>C | CA2801553910 | PYGL | c.2177+16C>G (n.2177+16C>G) n.350+16C>G c.2075+16C>G (n.2075+16C>G) | |
14 | g.50909879G= | CA2136414847 | PYGL | c.2177+16C= (n.2177+16C=) n.350+16C= c.2075+16C= (n.2075+16C=) | |
14 | g.50909879G>T | CA706604170 | PYGL | c.2177+16C>A (n.2177+16C>A) n.350+16C>A c.2075+16C>A (n.2075+16C>A) | dbSNP |
14 | g.50909883C>A | CA963069587 | PYGL | c.2177+12G>T (n.2177+12G>T) n.350+12G>T c.2075+12G>T (n.2075+12G>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909883C= | CA2136414849 | PYGL | c.2177+12G= (n.2177+12G=) n.350+12G= c.2075+12G= (n.2075+12G=) | |
14 | g.50909883C>T | CA2136414851 | PYGL | c.2177+12G>A (n.2177+12G>A) n.350+12G>A c.2075+12G>A (n.2075+12G>A) | dbSNP |
14 | g.50909885A>G | CA2801553911 | PYGL | c.2177+10T>C (n.2177+10T>C) n.350+10T>C c.2075+10T>C (n.2075+10T>C) | |
14 | g.50909887T>G | CA2624826866 | PYGL | c.2177+8A>C (n.2177+8A>C) n.350+8A>C c.2075+8A>C (n.2075+8A>C) | gnomAD v4 |
14 | g.50909888C>T | CA2624826868 | PYGL | c.2177+7G>A (n.2177+7G>A) n.350+7G>A c.2075+7G>A (n.2075+7G>A) | gnomAD v4 |
14 | g.50909890C>G | CA2624826870 | PYGL | c.2177+5G>C (n.2177+5G>C) n.350+5G>C c.2075+5G>C (n.2075+5G>C) | gnomAD v4 |
14 | g.50909890C>T | CA2624826871 | PYGL | c.2177+5G>A (n.2177+5G>A) n.350+5G>A c.2075+5G>A (n.2075+5G>A) | gnomAD v4 |
14 | g.50909891T>C | CA963069588 | PYGL | c.2177+4A>G (n.2177+4A>G) n.350+4A>G c.2075+4A>G (n.2075+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909891T= | CA2136414853 | PYGL | c.2177+4A= (n.2177+4A=) n.350+4A= c.2075+4A= (n.2075+4A=) | |
14 | g.50909893A= | CA2136414856 | PYGL | c.2177+2T= (n.2177+2T=) n.350+2T= c.2075+2T= (n.2075+2T=) | |
14 | g.50909893A>C | CA389681900 | PYGL | c.2177+2T>G (n.2177+2T>G) n.350+2T>G c.2075+2T>G (n.2075+2T>G) | dbSNP |
14 | g.50909893A>G | CA389681901 | PYGL | c.2177+2T>C (n.2177+2T>C) n.350+2T>C c.2075+2T>C (n.2075+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909893A>T | CA389681902 | PYGL | c.2177+2T>A (n.2177+2T>A) n.350+2T>A c.2075+2T>A (n.2075+2T>A) | |
14 | g.50909894C>A | CA389681903 | PYGL | c.2177+1G>T (n.2177+1G>T) n.350+1G>T c.2075+1G>T (n.2075+1G>T) | |
14 | g.50909894C= | CA2136414858 | PYGL | c.2177+1G= (n.2177+1G=) n.350+1G= c.2075+1G= (n.2075+1G=) | |
14 | g.50909894C>G | CA389681905 | PYGL | c.2177+1G>C (n.2177+1G>C) n.350+1G>C c.2075+1G>C (n.2075+1G>C) | dbSNP |
14 | g.50909894C>T | CA389681904 | PYGL | c.2177+1G>A (n.2177+1G>A) n.350+1G>A c.2075+1G>A (n.2075+1G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909895C>A | CA7183212 | PYGL | c.2177G>T (p.Gly726Val) n.350G>T c.2075G>T (p.Gly692Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909895C= | CA2136414860 | PYGL | c.2177G= (p.Gly726=) n.350G= c.2075G= (p.Gly692=) | |
14 | g.50909895C>G | CA389681906 | PYGL | c.2177G>C (p.Gly726Ala) n.350G>C c.2075G>C (p.Gly692Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909895C>T | CA389681907 | PYGL | c.2177G>A (p.Gly726Glu) n.350G>A c.2075G>A (p.Gly692Glu) | |
14 | g.50909896C>A | CA389681908 | PYGL | c.2176G>T (p.Gly726Trp) n.349G>T c.2074G>T (p.Gly692Trp) | |
14 | g.50909896C= | CA2136414862 | PYGL | c.2176G= (p.Gly726=) n.349G= c.2074G= (p.Gly692=) | |
14 | g.50909896C>G | CA7183213 | PYGL | c.2176G>C (p.Gly726Arg) n.349G>C c.2074G>C (p.Gly692Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909896C>T | CA389681909 | PYGL | c.2176G>A (p.Gly726Arg) n.349G>A c.2074G>A (p.Gly692Arg) | gnomAD v4 |
14 | g.50909897T>A | CA389681910 | PYGL | c.2175A>T (p.Lys725Asn) n.348A>T c.2073A>T (p.Lys691Asn) | |
14 | g.50909897T>C | CA486375110 | PYGL | c.2175A>G (p.Lys725=) n.348A>G c.2073A>G (p.Lys691=) | |
14 | g.50909897T>G | CA389681911 | PYGL | c.2175A>C (p.Lys725Asn) n.348A>C c.2073A>C (p.Lys691Asn) | |
14 | g.50909899del | CA2624826882 | PYGL | c.2175del (p.Tyr727ThrfsTer13) n.348del c.2073del (p.Tyr693ThrfsTer13) | gnomAD v4 |
14 | g.50909898T>A | CA389681912 | PYGL | c.2174A>T (p.Lys725Ile) n.347A>T c.2072A>T (p.Lys691Ile) | |
14 | g.50909898T>C | CA389681913 | PYGL | c.2174A>G (p.Lys725Arg) n.347A>G c.2072A>G (p.Lys691Arg) | |
14 | g.50909898T>G | CA389681914 | PYGL | c.2174A>C (p.Lys725Thr) n.347A>C c.2072A>C (p.Lys691Thr) | |
14 | g.50909899T>A | CA389681915 | PYGL | c.2173A>T (p.Lys725Ter) n.346A>T c.2071A>T (p.Lys691Ter) | |
14 | g.50909899T>C | CA389681917 | PYGL | c.2173A>G (p.Lys725Glu) n.346A>G c.2071A>G (p.Lys691Glu) | dbSNP gnomAD v4 |
14 | g.50909899T>G | CA389681916 | PYGL | c.2173A>C (p.Lys725Gln) n.346A>C c.2071A>C (p.Lys691Gln) | |
14 | g.50909899T= | CA2136414864 | PYGL | c.2173A= (p.Lys725=) n.346A= c.2071A= (p.Lys691=) | |
14 | g.50909900C>A | CA389681918 | PYGL | c.2172G>T (p.Lys724Asn) n.345G>T c.2070G>T (p.Lys690Asn) | |
14 | g.50909900C>G | CA389681919 | PYGL | c.2172G>C (p.Lys724Asn) n.345G>C c.2070G>C (p.Lys690Asn) | COSMIC |
14 | g.50909900C>T | CA486375122 | PYGL | c.2172G>A (p.Lys724=) n.345G>A c.2070G>A (p.Lys690=) | gnomAD v4 |
14 | g.50909901T>A | CA389681920 | PYGL | c.2171A>T (p.Lys724Met) n.344A>T c.2069A>T (p.Lys690Met) | |
14 | g.50909901T>C | CA389681921 | PYGL | c.2171A>G (p.Lys724Arg) n.344A>G c.2069A>G (p.Lys690Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909901T>G | CA389681922 | PYGL | c.2171A>C (p.Lys724Thr) n.344A>C c.2069A>C (p.Lys690Thr) | |
14 | g.50909901T= | CA2136414867 | PYGL | c.2171A= (p.Lys724=) n.344A= c.2069A= (p.Lys690=) | |
14 | g.50909902T>A | CA389681923 | PYGL | c.2170A>T (p.Lys724Ter) n.343A>T c.2068A>T (p.Lys690Ter) | |
14 | g.50909902T>C | CA389681924 | PYGL | c.2170A>G (p.Lys724Glu) n.343A>G c.2068A>G (p.Lys690Glu) | |
14 | g.50909902T>G | CA389681925 | PYGL | c.2170A>C (p.Lys724Gln) n.343A>C c.2068A>C (p.Lys690Gln) | |
14 | g.50909903G>A | CA486375139 | PYGL | c.2169C>T (p.Asp723=) n.342C>T c.2067C>T (p.Asp689=) | |
14 | g.50909903G>C | CA389681926 | PYGL | c.2169C>G (p.Asp723Glu) n.342C>G c.2067C>G (p.Asp689Glu) | gnomAD v4 |
14 | g.50909903G>T | CA389681927 | PYGL | c.2169C>A (p.Asp723Glu) n.342C>A c.2067C>A (p.Asp689Glu) | gnomAD v4 |
14 | g.50909904T>A | CA389681928 | PYGL | c.2168A>T (p.Asp723Val) n.341A>T c.2066A>T (p.Asp689Val) | |
14 | g.50909904T>C | CA389681929 | PYGL | c.2168A>G (p.Asp723Gly) n.341A>G c.2066A>G (p.Asp689Gly) | dbSNP |
14 | g.50909904T>G | CA389681930 | PYGL | c.2168A>C (p.Asp723Ala) n.341A>C c.2066A>C (p.Asp689Ala) | |
14 | g.50909904T= | CA2136414869 | PYGL | c.2168A= (p.Asp723=) n.341A= c.2066A= (p.Asp689=) | |
14 | g.50909905C>A | CA389681933 | PYGL | c.2167G>T (p.Asp723Tyr) n.340G>T c.2065G>T (p.Asp689Tyr) | |
14 | g.50909905C>G | CA389681932 | PYGL | c.2167G>C (p.Asp723His) n.340G>C c.2065G>C (p.Asp689His) | |
14 | g.50909905C>T | CA389681931 | PYGL | c.2167G>A (p.Asp723Asn) n.340G>A c.2065G>A (p.Asp689Asn) | |
14 | g.50909906C>A | CA389681934 | PYGL | c.2166G>T (p.Leu722Phe) n.339G>T c.2064G>T (p.Leu688Phe) | dbSNP |
14 | g.50909906C= | CA2136414871 | PYGL | c.2166G= (p.Leu722=) n.339G= c.2064G= (p.Leu688=) | |
14 | g.50909906C>G | CA389681935 | PYGL | c.2166G>C (p.Leu722Phe) n.339G>C c.2064G>C (p.Leu688Phe) | |
14 | g.50909906C>T | CA486375153 | PYGL | c.2166G>A (p.Leu722=) n.339G>A c.2064G>A (p.Leu688=) | |
14 | g.50909907A>C | CA389681936 | PYGL | c.2165T>G (p.Leu722Trp) n.338T>G c.2063T>G (p.Leu688Trp) | |
14 | g.50909907A>G | CA389681937 | PYGL | c.2165T>C (p.Leu722Ser) n.338T>C c.2063T>C (p.Leu688Ser) | |
14 | g.50909907A>T | CA389681938 | PYGL | c.2165T>A (p.Leu722Ter) n.338T>A c.2063T>A (p.Leu688Ter) | |
14 | g.50909908A>C | CA389681939 | PYGL | c.2164T>G (p.Leu722Val) n.337T>G c.2062T>G (p.Leu688Val) | |
14 | g.50909908A>G | CA486375159 | PYGL | c.2164T>C (p.Leu722=) n.337T>C c.2062T>C (p.Leu688=) | |
14 | g.50909908A>T | CA389681941 | PYGL | c.2164T>A (p.Leu722Met) n.337T>A c.2062T>A (p.Leu688Met) | |
14 | g.50909909A= | CA2136414872 | PYGL | c.2163T= (p.Ala721=) n.336T= c.2061T= (p.Ala687=) | |
14 | g.50909909A>C | CA486375160 | PYGL | c.2163T>G (p.Ala721=) n.336T>G c.2061T>G (p.Ala687=) | dbSNP |
14 | g.50909909A>G | CA486375161 | PYGL | c.2163T>C (p.Ala721=) n.336T>C c.2061T>C (p.Ala687=) | ClinVar |
14 | g.50909909A>T | CA486375162 | PYGL | c.2163T>A (p.Ala721=) n.336T>A c.2061T>A (p.Ala687=) | |
14 | g.50909910G>A | CA7183215 | PYGL | c.2162C>T (p.Ala721Val) n.335C>T c.2060C>T (p.Ala687Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909910G>C | CA7183214 | PYGL | c.2162C>G (p.Ala721Gly) n.335C>G c.2060C>G (p.Ala687Gly) | dbSNP ExAC gnomAD v2 |
14 | g.50909910G= | CA2136414873 | PYGL | c.2162C= (p.Ala721=) n.335C= c.2060C= (p.Ala687=) | |
14 | g.50909910G>T | CA389681945 | PYGL | c.2162C>A (p.Ala721Asp) n.335C>A c.2060C>A (p.Ala687Asp) | |
14 | g.50909911C>A | CA389681947 | PYGL | c.2161G>T (p.Ala721Ser) n.334G>T c.2059G>T (p.Ala687Ser) | |
14 | g.50909911C>G | CA389681949 | PYGL | c.2161G>C (p.Ala721Pro) n.334G>C c.2059G>C (p.Ala687Pro) | |
14 | g.50909911C>T | CA389681951 | PYGL | c.2161G>A (p.Ala721Thr) n.334G>A c.2059G>A (p.Ala687Thr) | |
14 | g.50909912A>C | CA486375166 | PYGL | c.2160T>G (p.Ala720=) n.333T>G c.2058T>G (p.Ala686=) | |
14 | g.50909912A>G | CA486375169 | PYGL | c.2160T>C (p.Ala720=) n.333T>C c.2058T>C (p.Ala686=) | |
14 | g.50909912A>T | CA486375171 | PYGL | c.2160T>A (p.Ala720=) n.333T>A c.2058T>A (p.Ala686=) | |
14 | g.50909913G>A | CA389681956 | PYGL | c.2159C>T (p.Ala720Val) n.332C>T c.2057C>T (p.Ala686Val) | |
14 | g.50909913G>C | CA389681954 | PYGL | c.2159C>G (p.Ala720Gly) n.332C>G c.2057C>G (p.Ala686Gly) | |
14 | g.50909913G= | CA2136414875 | PYGL | c.2159C= (p.Ala720=) n.332C= c.2057C= (p.Ala686=) | |
14 | g.50909913G>T | CA7183216 | PYGL | c.2159C>A (p.Ala720Asp) n.332C>A c.2057C>A (p.Ala686Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909914C>A | CA389681962 | PYGL | c.2158G>T (p.Ala720Ser) n.331G>T c.2056G>T (p.Ala686Ser) | |
14 | g.50909914C>G | CA389681958 | PYGL | c.2158G>C (p.Ala720Pro) n.331G>C c.2056G>C (p.Ala686Pro) | gnomAD v4 |
14 | g.50909914C>T | CA389681960 | PYGL | c.2158G>A (p.Ala720Thr) n.331G>A c.2056G>A (p.Ala686Thr) | |
14 | g.50909915C>A | CA486375181 | PYGL | c.2157G>T (p.Val719=) n.330G>T c.2055G>T (p.Val685=) | |
14 | g.50909915C>G | CA486375182 | PYGL | c.2157G>C (p.Val719=) n.330G>C c.2055G>C (p.Val685=) | |
14 | g.50909915C>T | CA486375183 | PYGL | c.2157G>A (p.Val719=) n.330G>A c.2055G>A (p.Val685=) | |
14 | g.50909916A= | CA2136414877 | PYGL | c.2156T= (p.Val719=) n.329T= c.2054T= (p.Val685=) | |
14 | g.50909916A>C | CA389681964 | PYGL | c.2156T>G (p.Val719Gly) n.329T>G c.2054T>G (p.Val685Gly) | |
14 | g.50909916A>G | CA7183217 | PYGL | c.2156T>C (p.Val719Ala) n.329T>C c.2054T>C (p.Val685Ala) | dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.50909916A>T | CA389681967 | PYGL | c.2156T>A (p.Val719Glu) n.329T>A c.2054T>A (p.Val685Glu) | |
14 | g.50909916_50909919delinsACAT | CA2136414878 | PYGL | c.2153_2156delinsATGT (p.Asp718=) n.326_329delinsATGT c.2051_2054delinsATGT (p.Asp684=) | |
14 | g.50909917C>A | CA389681970 | PYGL | c.2155G>T (p.Val719Leu) n.328G>T c.2053G>T (p.Val685Leu) | |
14 | g.50909917C= | CA2136414880 | PYGL | c.2155G= (p.Val719=) n.328G= c.2053G= (p.Val685=) | |
14 | g.50909917C>G | CA389681971 | PYGL | c.2155G>C (p.Val719Leu) n.328G>C c.2053G>C (p.Val685Leu) | |
14 | g.50909917C>T | CA7183218 | PYGL | c.2155G>A (p.Val719Met) n.328G>A c.2053G>A (p.Val685Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909921_50909923del | CA614275229 | PYGL | c.2153_2155del (p.Asp718del) n.326_328del c.2051_2053del (p.Asp684del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909918A>C | CA389681974 | PYGL | c.2154T>G (p.Asp718Glu) n.327T>G c.2052T>G (p.Asp684Glu) | |
14 | g.50909918A>G | CA486375192 | PYGL | c.2154T>C (p.Asp718=) n.327T>C c.2052T>C (p.Asp684=) | |
14 | g.50909918A>T | CA389681975 | PYGL | c.2154T>A (p.Asp718Glu) n.327T>A c.2052T>A (p.Asp684Glu) | |
14 | g.50909919T>A | CA389681978 | PYGL | c.2153A>T (p.Asp718Val) n.326A>T c.2051A>T (p.Asp684Val) | |
14 | g.50909919T>C | CA389681980 | PYGL | c.2153A>G (p.Asp718Gly) n.326A>G c.2051A>G (p.Asp684Gly) | gnomAD v4 |
14 | g.50909919T>G | CA389681982 | PYGL | c.2153A>C (p.Asp718Ala) n.326A>C c.2051A>C (p.Asp684Ala) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50909919T= | CA2136414883 | PYGL | c.2153A= (p.Asp718=) n.326A= c.2051A= (p.Asp684=) | |
14 | g.50909920C>A | CA389681988 | PYGL | c.2152G>T (p.Asp718Tyr) n.325G>T c.2050G>T (p.Asp684Tyr) | |
14 | g.50909920C>G | CA389681984 | PYGL | c.2152G>C (p.Asp718His) n.325G>C c.2050G>C (p.Asp684His) | |
14 | g.50909920C>T | CA389681986 | PYGL | c.2152G>A (p.Asp718Asn) n.325G>A c.2050G>A (p.Asp684Asn) | |
14 | g.50909921A>C | CA389681990 | PYGL | c.2151T>G (p.Asp717Glu) n.324T>G c.2049T>G (p.Asp683Glu) | |
14 | g.50909921A>G | CA486375214 | PYGL | c.2151T>C (p.Asp717=) n.324T>C c.2049T>C (p.Asp683=) | gnomAD v4 |
14 | g.50909921A>T | CA389681992 | PYGL | c.2151T>A (p.Asp717Glu) n.324T>A c.2049T>A (p.Asp683Glu) | |
14 | g.50909922T>A | CA389681994 | PYGL | c.2150A>T (p.Asp717Val) n.323A>T c.2048A>T (p.Asp683Val) | |
14 | g.50909922T>C | CA7183219 | PYGL | c.2150A>G (p.Asp717Gly) n.323A>G c.2048A>G (p.Asp683Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909922T>G | CA389681997 | PYGL | c.2150A>C (p.Asp717Ala) n.323A>C c.2048A>C (p.Asp683Ala) | |
14 | g.50909922T= | CA2136414884 | PYGL | c.2150A= (p.Asp717=) n.323A= c.2048A= (p.Asp683=) | |
14 | g.50909923C>A | CA389681999 | PYGL | c.2149G>T (p.Asp717Tyr) n.322G>T c.2047G>T (p.Asp683Tyr) | |
14 | g.50909923C>G | CA389682000 | PYGL | c.2149G>C (p.Asp717His) n.322G>C c.2047G>C (p.Asp683His) | |
14 | g.50909923C>T | CA389682002 | PYGL | c.2149G>A (p.Asp717Asn) n.322G>A c.2047G>A (p.Asp683Asn) | |
14 | g.50909923_50909924delinsCT | CA2136414885 | PYGL | c.2148_2149delinsAG (p.Ile716=) n.321_322delinsAG c.2046_2047delinsAG (p.Ile682=) | |
14 | g.50909924del | CA7183220 | PYGL | c.2148del (p.Ile716MetfsTer24) n.321del c.2046del (p.Ile682MetfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50909924T>A | CA486375235 | PYGL | c.2148A>T (p.Ile716=) n.321A>T c.2046A>T (p.Ile682=) | |
14 | g.50909924T>C | CA389682004 | PYGL | c.2148A>G (p.Ile716Met) n.321A>G c.2046A>G (p.Ile682Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
14 | g.50909924T>G | CA486375238 | PYGL | c.2148A>C (p.Ile716=) n.321A>C c.2046A>C (p.Ile682=) | |
14 | g.50909924T= | CA2136414887 | PYGL | c.2148A= (p.Ile716=) n.321A= c.2046A= (p.Ile682=) | |
14 | g.50909925A= | CA2136414888 | PYGL | c.2147T= (p.Ile716=) n.320T= c.2045T= (p.Ile682=) | |
14 | g.50909925A>C | CA389682007 | PYGL | c.2147T>G (p.Ile716Arg) n.320T>G c.2045T>G (p.Ile682Arg) | |
14 | g.50909925A>G | CA260821455 | PYGL | c.2147T>C (p.Ile716Thr) n.320T>C c.2045T>C (p.Ile682Thr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909925A>T | CA389682009 | PYGL | c.2147T>A (p.Ile716Lys) n.320T>A c.2045T>A (p.Ile682Lys) | |
14 | g.50909926T>A | CA389682013 | PYGL | c.2146A>T (p.Ile716Leu) n.319A>T c.2044A>T (p.Ile682Leu) | gnomAD v4 |
14 | g.50909926T>C | CA389682014 | PYGL | c.2146A>G (p.Ile716Val) n.319A>G c.2044A>G (p.Ile682Val) | dbSNP |
14 | g.50909926T>G | CA389682011 | PYGL | c.2146A>C (p.Ile716Leu) n.319A>C c.2044A>C (p.Ile682Leu) | |
14 | g.50909926T= | CA2136414889 | PYGL | c.2146A= (p.Ile716=) n.319A= c.2044A= (p.Ile682=) | |
14 | g.50909927C>A | CA389682016 | PYGL | c.2145G>T (p.Arg715Ser) n.318G>T c.2043G>T (p.Arg681Ser) | |
14 | g.50909927C= | CA2136414891 | PYGL | c.2145G= (p.Arg715=) n.318G= c.2043G= (p.Arg681=) | |
14 | g.50909927C>G | CA260821461 | PYGL | c.2145G>C (p.Arg715Ser) n.318G>C c.2043G>C (p.Arg681Ser) | dbSNP |
14 | g.50909927C>T | CA486375256 | PYGL | c.2145G>A (p.Arg715=) n.318G>A c.2043G>A (p.Arg681=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909929_50909935del | CA2575525318 | PYGL | c.2139_2145del (p.Met714Ter) n.312_318del c.2037_2043del (p.Met680Ter) | |
14 | g.50909928C>A | CA389682019 | PYGL | c.2144G>T (p.Arg715Met) n.317G>T c.2042G>T (p.Arg681Met) | |
14 | g.50909928C= | CA2136414893 | PYGL | c.2144G= (p.Arg715=) n.317G= c.2042G= (p.Arg681=) | |
14 | g.50909928C>G | CA389682021 | PYGL | c.2144G>C (p.Arg715Thr) n.317G>C c.2042G>C (p.Arg681Thr) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909928C>T | CA389682023 | PYGL | c.2144G>A (p.Arg715Lys) n.317G>A c.2042G>A (p.Arg681Lys) | dbSNP |
14 | g.50909929T>A | CA389682026 | PYGL | c.2143A>T (p.Arg715Trp) n.316A>T c.2041A>T (p.Arg681Trp) | |
14 | g.50909929T>C | CA260821476 | PYGL | c.2143A>G (p.Arg715Gly) n.316A>G c.2041A>G (p.Arg681Gly) | dbSNP gnomAD v4 |
14 | g.50909929T>G | CA486375263 | PYGL | c.2143A>C (p.Arg715=) n.316A>C c.2041A>C (p.Arg681=) | |
14 | g.50909929T= | CA2136414895 | PYGL | c.2143A= (p.Arg715=) n.316A= c.2041A= (p.Arg681=) | |
14 | g.50909930C>A | CA389682027 | PYGL | c.2142G>T (p.Met714Ile) n.315G>T c.2040G>T (p.Met680Ile) | |
14 | g.50909930C= | CA2136414897 | PYGL | c.2142G= (p.Met714=) n.315G= c.2040G= (p.Met680=) | |
14 | g.50909930C>G | CA389682028 | PYGL | c.2142G>C (p.Met714Ile) n.315G>C c.2040G>C (p.Met680Ile) | |
14 | g.50909930C>T | CA7183221 | PYGL | c.2142G>A (p.Met714Ile) n.315G>A c.2040G>A (p.Met680Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909931A>C | CA389682032 | PYGL | c.2141T>G (p.Met714Arg) n.314T>G c.2039T>G (p.Met680Arg) | |
14 | g.50909931A>G | CA389682033 | PYGL | c.2141T>C (p.Met714Thr) n.314T>C c.2039T>C (p.Met680Thr) | gnomAD v4 |
14 | g.50909931A>T | CA389682035 | PYGL | c.2141T>A (p.Met714Lys) n.314T>A c.2039T>A (p.Met680Lys) | |
14 | g.50909932T>A | CA389682042 | PYGL | c.2140A>T (p.Met714Leu) n.313A>T c.2038A>T (p.Met680Leu) | |
14 | g.50909932T>C | CA389682038 | PYGL | c.2140A>G (p.Met714Val) n.313A>G c.2038A>G (p.Met680Val) | gnomAD v4 |
14 | g.50909932T>G | CA389682040 | PYGL | c.2140A>C (p.Met714Leu) n.313A>C c.2038A>C (p.Met680Leu) | |
14 | g.50909933G>A | CA486375280 | PYGL | c.2139C>T (p.Gly713=) n.312C>T c.2037C>T (p.Gly679=) | |
14 | g.50909933G>C | CA486375277 | PYGL | c.2139C>G (p.Gly713=) n.312C>G c.2037C>G (p.Gly679=) | |
14 | g.50909933G>T | CA486375278 | PYGL | c.2139C>A (p.Gly713=) n.312C>A c.2037C>A (p.Gly679=) | |
14 | g.50909934C>A | CA389682044 | PYGL | c.2138G>T (p.Gly713Val) n.311G>T c.2036G>T (p.Gly679Val) | |
14 | g.50909934C= | CA2136414899 | PYGL | c.2138G= (p.Gly713=) n.311G= c.2036G= (p.Gly679=) | |
14 | g.50909934C>G | CA389682046 | PYGL | c.2138G>C (p.Gly713Ala) n.311G>C c.2036G>C (p.Gly679Ala) | |
14 | g.50909934C>T | CA389682049 | PYGL | c.2138G>A (p.Gly713Asp) n.311G>A c.2036G>A (p.Gly679Asp) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909935C>A | CA389682051 | PYGL | c.2137G>T (p.Gly713Cys) n.310G>T c.2035G>T (p.Gly679Cys) | |
14 | g.50909935C>G | CA389682052 | PYGL | c.2137G>C (p.Gly713Arg) n.310G>C c.2035G>C (p.Gly679Arg) | |
14 | g.50909935C>T | CA389682054 | PYGL | c.2137G>A (p.Gly713Ser) n.310G>A c.2035G>A (p.Gly679Ser) | |
14 | g.50909936A>C | CA389682056 | PYGL | c.2136T>G (p.Phe712Leu) n.309T>G c.2034T>G (p.Phe678Leu) | |
14 | g.50909936A>G | CA486375293 | PYGL | c.2136T>C (p.Phe712=) n.309T>C c.2034T>C (p.Phe678=) | |
14 | g.50909936A>T | CA389682058 | PYGL | c.2136T>A (p.Phe712Leu) n.309T>A c.2034T>A (p.Phe678Leu) | |
14 | g.50909938del | CA2624826916 | PYGL | c.2136del (p.Phe712LeufsTer3) n.309del c.2034del (p.Phe678LeufsTer3) | gnomAD v4 |
14 | g.50909937A>C | CA389682060 | PYGL | c.2135T>G (p.Phe712Cys) n.308T>G c.2033T>G (p.Phe678Cys) | |
14 | g.50909937A>G | CA389682062 | PYGL | c.2135T>C (p.Phe712Ser) n.308T>C c.2033T>C (p.Phe678Ser) | |
14 | g.50909937A>T | CA389682064 | PYGL | c.2135T>A (p.Phe712Tyr) n.308T>A c.2033T>A (p.Phe678Tyr) | |
14 | g.50909938A>C | CA389682068 | PYGL | c.2134T>G (p.Phe712Val) n.307T>G c.2032T>G (p.Phe678Val) | |
14 | g.50909938A>G | CA389682069 | PYGL | c.2134T>C (p.Phe712Leu) n.307T>C c.2032T>C (p.Phe678Leu) | gnomAD v4 |
14 | g.50909938A>T | CA389682066 | PYGL | c.2134T>A (p.Phe712Ile) n.307T>A c.2032T>A (p.Phe678Ile) | |
14 | g.50909939G>A | CA486375306 | PYGL | c.2133C>T (p.Ile711=) n.306C>T c.2031C>T (p.Ile677=) | |
14 | g.50909939G>C | CA389682071 | PYGL | c.2133C>G (p.Ile711Met) n.306C>G c.2031C>G (p.Ile677Met) | dbSNP |
14 | g.50909939G= | CA2136414900 | PYGL | c.2133C= (p.Ile711=) n.306C= c.2031C= (p.Ile677=) | |
14 | g.50909939G>T | CA486375305 | PYGL | c.2133C>A (p.Ile711=) n.306C>A c.2031C>A (p.Ile677=) | |
14 | g.50909940A>C | CA389682072 | PYGL | c.2132T>G (p.Ile711Ser) n.305T>G c.2030T>G (p.Ile677Ser) | |
14 | g.50909940A>G | CA389682074 | PYGL | c.2132T>C (p.Ile711Thr) n.305T>C c.2030T>C (p.Ile677Thr) | |
14 | g.50909940A>T | CA389682076 | PYGL | c.2132T>A (p.Ile711Asn) n.305T>A c.2030T>A (p.Ile677Asn) | |
14 | g.50909941T>A | CA389682078 | PYGL | c.2131A>T (p.Ile711Phe) n.304A>T c.2029A>T (p.Ile677Phe) | |
14 | g.50909941T>C | CA389682080 | PYGL | c.2131A>G (p.Ile711Val) n.304A>G c.2029A>G (p.Ile677Val) | |
14 | g.50909941T>G | CA389682090 | PYGL | c.2131A>C (p.Ile711Leu) n.304A>C c.2029A>C (p.Ile677Leu) | |
14 | g.50909942G>A | CA486375317 | PYGL | c.2130C>T (p.Phe710=) n.303C>T c.2028C>T (p.Phe676=) | COSMIC |
14 | g.50909942G>C | CA389682092 | PYGL | c.2130C>G (p.Phe710Leu) n.303C>G c.2028C>G (p.Phe676Leu) | |
14 | g.50909942G>T | CA389682094 | PYGL | c.2130C>A (p.Phe710Leu) n.303C>A c.2028C>A (p.Phe676Leu) | |
14 | g.50909942_50909945dup | CA2695219347 | PYGL | c.2127_2130dup (p.Ile711ValfsTer9) n.300_303dup c.2025_2028dup (p.Ile677ValfsTer9) | |
14 | g.50909943A>C | CA389682096 | PYGL | c.2129T>G (p.Phe710Cys) n.302T>G c.2027T>G (p.Phe676Cys) | |
14 | g.50909943A>G | CA389682097 | PYGL | c.2129T>C (p.Phe710Ser) n.302T>C c.2027T>C (p.Phe676Ser) | |
14 | g.50909943A>T | CA389682102 | PYGL | c.2129T>A (p.Phe710Tyr) n.302T>A c.2027T>A (p.Phe676Tyr) | |
14 | g.50909944A>C | CA389682107 | PYGL | c.2128T>G (p.Phe710Val) n.301T>G c.2026T>G (p.Phe676Val) | |
14 | g.50909944A>G | CA389682113 | PYGL | c.2128T>C (p.Phe710Leu) n.301T>C c.2026T>C (p.Phe676Leu) | |
14 | g.50909944A>T | CA389682105 | PYGL | c.2128T>A (p.Phe710Ile) n.301T>A c.2026T>A (p.Phe676Ile) | |
14 | g.50909945C>A | CA486375336 | PYGL | c.2127G>T (p.Leu709=) n.300G>T c.2025G>T (p.Leu675=) | |
14 | g.50909945C>G | CA486375338 | PYGL | c.2127G>C (p.Leu709=) n.300G>C c.2025G>C (p.Leu675=) | |
14 | g.50909945C>T | CA486375339 | PYGL | c.2127G>A (p.Leu709=) n.300G>A c.2025G>A (p.Leu675=) | |
14 | g.50909946A>C | CA389682114 | PYGL | c.2126T>G (p.Leu709Arg) n.299T>G c.2024T>G (p.Leu675Arg) | |
14 | g.50909946A>G | CA389682116 | PYGL | c.2126T>C (p.Leu709Pro) n.299T>C c.2024T>C (p.Leu675Pro) | gnomAD v3 gnomAD v4 |
14 | g.50909946A>T | CA389682118 | PYGL | c.2126T>A (p.Leu709Gln) n.299T>A c.2024T>A (p.Leu675Gln) | |
14 | g.50909947G>A | CA486375349 | PYGL | c.2125C>T (p.Leu709=) n.298C>T c.2023C>T (p.Leu675=) | |
14 | g.50909947G>C | CA389682119 | PYGL | c.2125C>G (p.Leu709Val) n.298C>G c.2023C>G (p.Leu675Val) | dbSNP |
14 | g.50909947G= | CA2136414902 | PYGL | c.2125C= (p.Leu709=) n.298C= c.2023C= (p.Leu675=) | |
14 | g.50909947G>T | CA389682120 | PYGL | c.2125C>A (p.Leu709Met) n.298C>A c.2023C>A (p.Leu675Met) | |
14 | g.50909948G>A | CA7183222 | PYGL | c.2124C>T (p.Asn708=) n.297C>T c.2022C>T (p.Asn674=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909948G>C | CA389682122 | PYGL | c.2124C>G (p.Asn708Lys) n.297C>G c.2022C>G (p.Asn674Lys) | |
14 | g.50909948G= | CA2136414904 | PYGL | c.2124C= (p.Asn708=) n.297C= c.2022C= (p.Asn674=) | |
14 | g.50909948G>T | CA389682124 | PYGL | c.2124C>A (p.Asn708Lys) n.297C>A c.2022C>A (p.Asn674Lys) | |
14 | g.50909949T>A | CA389682131 | PYGL | c.2123A>T (p.Asn708Ile) n.296A>T c.2021A>T (p.Asn674Ile) | |
14 | g.50909949T>C | CA389682133 | PYGL | c.2123A>G (p.Asn708Ser) n.296A>G c.2021A>G (p.Asn674Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50909949T>G | CA389682134 | PYGL | c.2123A>C (p.Asn708Thr) n.296A>C c.2021A>C (p.Asn674Thr) | |
14 | g.50909949T= | CA2136414906 | PYGL | c.2123A= (p.Asn708=) n.296A= c.2021A= (p.Asn674=) | |
14 | g.50909950T>A | CA389682137 | PYGL | c.2122A>T (p.Asn708Tyr) n.295A>T c.2020A>T (p.Asn674Tyr) | |
14 | g.50909950T>C | CA389682139 | PYGL | c.2122A>G (p.Asn708Asp) n.295A>G c.2020A>G (p.Asn674Asp) | |
14 | g.50909950T>G | CA389682141 | PYGL | c.2122A>C (p.Asn708His) n.295A>C c.2020A>C (p.Asn674His) | |
14 | g.50909951C>A | CA389682145 | PYGL | c.2121G>T (p.Glu707Asp) n.294G>T c.2019G>T (p.Glu673Asp) | |
14 | g.50909951C= | CA2136414908 | PYGL | c.2121G= (p.Glu707=) n.294G= c.2019G= (p.Glu673=) | |
14 | g.50909951C>G | CA389682143 | PYGL | c.2121G>C (p.Glu707Asp) n.294G>C c.2019G>C (p.Glu673Asp) | dbSNP gnomAD v4 |
14 | g.50909951C>T | CA486375362 | PYGL | c.2121G>A (p.Glu707=) n.294G>A c.2019G>A (p.Glu673=) | |
14 | g.50909952T>A | CA389682148 | PYGL | c.2120A>T (p.Glu707Val) n.293A>T c.2018A>T (p.Glu673Val) | |
14 | g.50909952T>C | CA7183223 | PYGL | c.2120A>G (p.Glu707Gly) n.293A>G c.2018A>G (p.Glu673Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50909952T>G | CA389682159 | PYGL | c.2120A>C (p.Glu707Ala) n.293A>C c.2018A>C (p.Glu673Ala) | |
14 | g.50909952T= | CA2136414910 | PYGL | c.2120A= (p.Glu707=) n.293A= c.2018A= (p.Glu673=) | |
14 | g.50909953C>A | CA389682162 | PYGL | c.2119G>T (p.Glu707Ter) n.292G>T c.2017G>T (p.Glu673Ter) | |
14 | g.50909953C>G | CA389682164 | PYGL | c.2119G>C (p.Glu707Gln) n.292G>C c.2017G>C (p.Glu673Gln) | |
14 | g.50909953C>T | CA389682167 | PYGL | c.2119G>A (p.Glu707Lys) n.292G>A c.2017G>A (p.Glu673Lys) | |
14 | g.50909954T>A | CA389682170 | PYGL | c.2118A>T (p.Glu706Asp) n.291A>T c.2016A>T (p.Glu672Asp) | |
14 | g.50909954T>C | CA486375378 | PYGL | c.2118A>G (p.Glu706=) n.291A>G c.2016A>G (p.Glu672=) | dbSNP gnomAD v4 |
14 | g.50909954T>G | CA389682171 | PYGL | c.2118A>C (p.Glu706Asp) n.291A>C c.2016A>C (p.Glu672Asp) | |
14 | g.50909954T= | CA2136414912 | PYGL | c.2118A= (p.Glu706=) n.291A= c.2016A= (p.Glu672=) | |
14 | g.50909955T>A | CA389682173 | PYGL | c.2117A>T (p.Glu706Val) n.290A>T c.2015A>T (p.Glu672Val) | |
14 | g.50909955T>C | CA389682176 | PYGL | c.2117A>G (p.Glu706Gly) n.290A>G c.2015A>G (p.Glu672Gly) | |
14 | g.50909955T>G | CA389682179 | PYGL | c.2117A>C (p.Glu706Ala) n.290A>C c.2015A>C (p.Glu672Ala) |