Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50909861A=CA2136414829PYGLc.2177+34T= (n.2177+34T=)
n.350+34T=
c.2075+34T= (n.2075+34T=)
14g.50909861A>CCA656114719PYGLc.2177+34T>G (n.2177+34T>G)
n.350+34T>G
c.2075+34T>G (n.2075+34T>G)
 COSMIC
14g.50909861A>GCA7183206PYGLc.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
14g.50909862G>TCA2575525316PYGLc.2177+33C>A (n.2177+33C>A)
n.350+33C>A
c.2075+33C>A (n.2075+33C>A)
14g.50909863T>CCA2136414832PYGLc.2177+32A>G (n.2177+32A>G)
n.350+32A>G
c.2075+32A>G (n.2075+32A>G)
 dbSNP gnomAD v4
14g.50909863T=CA2136414831PYGLc.2177+32A= (n.2177+32A=)
n.350+32A=
c.2075+32A= (n.2075+32A=)
14g.50909864C>ACA614275227PYGLc.2177+31G>T (n.2177+31G>T)
n.350+31G>T
c.2075+31G>T (n.2075+31G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.50909864C=CA2136414834PYGLc.2177+31G= (n.2177+31G=)
n.350+31G=
c.2075+31G= (n.2075+31G=)
14g.50909866T>GCA7183207PYGLc.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
14g.50909866T=CA2136414835PYGLc.2177+29A= (n.2177+29A=)
n.350+29A=
c.2075+29A= (n.2075+29A=)
14g.50909867G>ACA7183208PYGLc.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
14g.50909867G=CA2136414836PYGLc.2177+28C= (n.2177+28C=)
n.350+28C=
c.2075+28C= (n.2075+28C=)
14g.50909868C=CA2136414838PYGLc.2177+27G= (n.2177+27G=)
n.350+27G=
c.2075+27G= (n.2075+27G=)
14g.50909868C>GCA260821415PYGLc.2177+27G>C (n.2177+27G>C)
n.350+27G>C
c.2075+27G>C (n.2075+27G>C)
 dbSNP
14g.50909868C>TCA614275228PYGLc.2177+27G>A (n.2177+27G>A)
n.350+27G>A
c.2075+27G>A (n.2075+27G>A)
 dbSNP gnomAD v2 gnomAD v4
14g.50909872G>ACA7183209PYGLc.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
14g.50909872G=CA2136414840PYGLc.2177+23C= (n.2177+23C=)
n.350+23C=
c.2075+23C= (n.2075+23C=)
14g.50909872G>TCA706604167PYGLc.2177+23C>A (n.2177+23C>A)
n.350+23C>A
c.2075+23C>A (n.2075+23C>A)
 dbSNP
14g.50909873C>TCA2624826857PYGLc.2177+22G>A (n.2177+22G>A)
n.350+22G>A
c.2075+22G>A (n.2075+22G>A)
 gnomAD v4
14g.50909877G>ACA7183210PYGLc.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
14g.50909877G>CCA2136414843PYGLc.2177+18C>G (n.2177+18C>G)
n.350+18C>G
c.2075+18C>G (n.2075+18C>G)
 dbSNP
14g.50909877G=CA2136414842PYGLc.2177+18C= (n.2177+18C=)
n.350+18C=
c.2075+18C= (n.2075+18C=)
14g.50909878A=CA2136414844PYGLc.2177+17T= (n.2177+17T=)
n.350+17T=
c.2075+17T= (n.2075+17T=)
14g.50909878A>GCA7183211PYGLc.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
14g.50909879G>CCA2801553910PYGLc.2177+16C>G (n.2177+16C>G)
n.350+16C>G
c.2075+16C>G (n.2075+16C>G)
14g.50909879G=CA2136414847PYGLc.2177+16C= (n.2177+16C=)
n.350+16C=
c.2075+16C= (n.2075+16C=)
14g.50909879G>TCA706604170PYGLc.2177+16C>A (n.2177+16C>A)
n.350+16C>A
c.2075+16C>A (n.2075+16C>A)
 dbSNP
14g.50909883C>ACA963069587PYGLc.2177+12G>T (n.2177+12G>T)
n.350+12G>T
c.2075+12G>T (n.2075+12G>T)
 dbSNP gnomAD v3 gnomAD v4
14g.50909883C=CA2136414849PYGLc.2177+12G= (n.2177+12G=)
n.350+12G=
c.2075+12G= (n.2075+12G=)
14g.50909883C>TCA2136414851PYGLc.2177+12G>A (n.2177+12G>A)
n.350+12G>A
c.2075+12G>A (n.2075+12G>A)
 dbSNP
14g.50909885A>GCA2801553911PYGLc.2177+10T>C (n.2177+10T>C)
n.350+10T>C
c.2075+10T>C (n.2075+10T>C)
14g.50909887T>GCA2624826866PYGLc.2177+8A>C (n.2177+8A>C)
n.350+8A>C
c.2075+8A>C (n.2075+8A>C)
 gnomAD v4
14g.50909888C>TCA2624826868PYGLc.2177+7G>A (n.2177+7G>A)
n.350+7G>A
c.2075+7G>A (n.2075+7G>A)
 gnomAD v4
14g.50909890C>GCA2624826870PYGLc.2177+5G>C (n.2177+5G>C)
n.350+5G>C
c.2075+5G>C (n.2075+5G>C)
 gnomAD v4
14g.50909890C>TCA2624826871PYGLc.2177+5G>A (n.2177+5G>A)
n.350+5G>A
c.2075+5G>A (n.2075+5G>A)
 gnomAD v4
14g.50909891T>CCA963069588PYGLc.2177+4A>G (n.2177+4A>G)
n.350+4A>G
c.2075+4A>G (n.2075+4A>G)
 dbSNP gnomAD v3 gnomAD v4
14g.50909891T=CA2136414853PYGLc.2177+4A= (n.2177+4A=)
n.350+4A=
c.2075+4A= (n.2075+4A=)
14g.50909893A=CA2136414856PYGLc.2177+2T= (n.2177+2T=)
n.350+2T=
c.2075+2T= (n.2075+2T=)
14g.50909893A>CCA389681900PYGLc.2177+2T>G (n.2177+2T>G)
n.350+2T>G
c.2075+2T>G (n.2075+2T>G)
 dbSNP
14g.50909893A>GCA389681901PYGLc.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
14g.50909893A>TCA389681902PYGLc.2177+2T>A (n.2177+2T>A)
n.350+2T>A
c.2075+2T>A (n.2075+2T>A)
14g.50909894C>ACA389681903PYGLc.2177+1G>T (n.2177+1G>T)
n.350+1G>T
c.2075+1G>T (n.2075+1G>T)
14g.50909894C=CA2136414858PYGLc.2177+1G= (n.2177+1G=)
n.350+1G=
c.2075+1G= (n.2075+1G=)
14g.50909894C>GCA389681905PYGLc.2177+1G>C (n.2177+1G>C)
n.350+1G>C
c.2075+1G>C (n.2075+1G>C)
 dbSNP
14g.50909894C>TCA389681904PYGLc.2177+1G>A (n.2177+1G>A)
n.350+1G>A
c.2075+1G>A (n.2075+1G>A)
 dbSNP gnomAD v3 gnomAD v4
14g.50909895C>ACA7183212PYGLc.2177G>T (p.Gly726Val)
n.350G>T
c.2075G>T (p.Gly692Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50909895C=CA2136414860PYGLc.2177G= (p.Gly726=)
n.350G=
c.2075G= (p.Gly692=)
14g.50909895C>GCA389681906PYGLc.2177G>C (p.Gly726Ala)
n.350G>C
c.2075G>C (p.Gly692Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.50909895C>TCA389681907PYGLc.2177G>A (p.Gly726Glu)
n.350G>A
c.2075G>A (p.Gly692Glu)
14g.50909896C>ACA389681908PYGLc.2176G>T (p.Gly726Trp)
n.349G>T
c.2074G>T (p.Gly692Trp)
14g.50909896C=CA2136414862PYGLc.2176G= (p.Gly726=)
n.349G=
c.2074G= (p.Gly692=)
14g.50909896C>GCA7183213PYGLc.2176G>C (p.Gly726Arg)
n.349G>C
c.2074G>C (p.Gly692Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50909896C>TCA389681909PYGLc.2176G>A (p.Gly726Arg)
n.349G>A
c.2074G>A (p.Gly692Arg)
 gnomAD v4
14g.50909897T>ACA389681910PYGLc.2175A>T (p.Lys725Asn)
n.348A>T
c.2073A>T (p.Lys691Asn)
14g.50909897T>CCA486375110PYGLc.2175A>G (p.Lys725=)
n.348A>G
c.2073A>G (p.Lys691=)
14g.50909897T>GCA389681911PYGLc.2175A>C (p.Lys725Asn)
n.348A>C
c.2073A>C (p.Lys691Asn)
14g.50909899delCA2624826882PYGLc.2175del (p.Tyr727ThrfsTer13)
n.348del
c.2073del (p.Tyr693ThrfsTer13)
 gnomAD v4
14g.50909898T>ACA389681912PYGLc.2174A>T (p.Lys725Ile)
n.347A>T
c.2072A>T (p.Lys691Ile)
14g.50909898T>CCA389681913PYGLc.2174A>G (p.Lys725Arg)
n.347A>G
c.2072A>G (p.Lys691Arg)
14g.50909898T>GCA389681914PYGLc.2174A>C (p.Lys725Thr)
n.347A>C
c.2072A>C (p.Lys691Thr)
14g.50909899T>ACA389681915PYGLc.2173A>T (p.Lys725Ter)
n.346A>T
c.2071A>T (p.Lys691Ter)
14g.50909899T>CCA389681917PYGLc.2173A>G (p.Lys725Glu)
n.346A>G
c.2071A>G (p.Lys691Glu)
 dbSNP gnomAD v4
14g.50909899T>GCA389681916PYGLc.2173A>C (p.Lys725Gln)
n.346A>C
c.2071A>C (p.Lys691Gln)
14g.50909899T=CA2136414864PYGLc.2173A= (p.Lys725=)
n.346A=
c.2071A= (p.Lys691=)
14g.50909900C>ACA389681918PYGLc.2172G>T (p.Lys724Asn)
n.345G>T
c.2070G>T (p.Lys690Asn)
14g.50909900C>GCA389681919PYGLc.2172G>C (p.Lys724Asn)
n.345G>C
c.2070G>C (p.Lys690Asn)
 COSMIC
14g.50909900C>TCA486375122PYGLc.2172G>A (p.Lys724=)
n.345G>A
c.2070G>A (p.Lys690=)
 gnomAD v4
14g.50909901T>ACA389681920PYGLc.2171A>T (p.Lys724Met)
n.344A>T
c.2069A>T (p.Lys690Met)
14g.50909901T>CCA389681921PYGLc.2171A>G (p.Lys724Arg)
n.344A>G
c.2069A>G (p.Lys690Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50909901T>GCA389681922PYGLc.2171A>C (p.Lys724Thr)
n.344A>C
c.2069A>C (p.Lys690Thr)
14g.50909901T=CA2136414867PYGLc.2171A= (p.Lys724=)
n.344A=
c.2069A= (p.Lys690=)
14g.50909902T>ACA389681923PYGLc.2170A>T (p.Lys724Ter)
n.343A>T
c.2068A>T (p.Lys690Ter)
14g.50909902T>CCA389681924PYGLc.2170A>G (p.Lys724Glu)
n.343A>G
c.2068A>G (p.Lys690Glu)
14g.50909902T>GCA389681925PYGLc.2170A>C (p.Lys724Gln)
n.343A>C
c.2068A>C (p.Lys690Gln)
14g.50909903G>ACA486375139PYGLc.2169C>T (p.Asp723=)
n.342C>T
c.2067C>T (p.Asp689=)
14g.50909903G>CCA389681926PYGLc.2169C>G (p.Asp723Glu)
n.342C>G
c.2067C>G (p.Asp689Glu)
 gnomAD v4
14g.50909903G>TCA389681927PYGLc.2169C>A (p.Asp723Glu)
n.342C>A
c.2067C>A (p.Asp689Glu)
 gnomAD v4
14g.50909904T>ACA389681928PYGLc.2168A>T (p.Asp723Val)
n.341A>T
c.2066A>T (p.Asp689Val)
14g.50909904T>CCA389681929PYGLc.2168A>G (p.Asp723Gly)
n.341A>G
c.2066A>G (p.Asp689Gly)
 dbSNP
14g.50909904T>GCA389681930PYGLc.2168A>C (p.Asp723Ala)
n.341A>C
c.2066A>C (p.Asp689Ala)
14g.50909904T=CA2136414869PYGLc.2168A= (p.Asp723=)
n.341A=
c.2066A= (p.Asp689=)
14g.50909905C>ACA389681933PYGLc.2167G>T (p.Asp723Tyr)
n.340G>T
c.2065G>T (p.Asp689Tyr)
14g.50909905C>GCA389681932PYGLc.2167G>C (p.Asp723His)
n.340G>C
c.2065G>C (p.Asp689His)
14g.50909905C>TCA389681931PYGLc.2167G>A (p.Asp723Asn)
n.340G>A
c.2065G>A (p.Asp689Asn)
14g.50909906C>ACA389681934PYGLc.2166G>T (p.Leu722Phe)
n.339G>T
c.2064G>T (p.Leu688Phe)
 dbSNP
14g.50909906C=CA2136414871PYGLc.2166G= (p.Leu722=)
n.339G=
c.2064G= (p.Leu688=)
14g.50909906C>GCA389681935PYGLc.2166G>C (p.Leu722Phe)
n.339G>C
c.2064G>C (p.Leu688Phe)
14g.50909906C>TCA486375153PYGLc.2166G>A (p.Leu722=)
n.339G>A
c.2064G>A (p.Leu688=)
14g.50909907A>CCA389681936PYGLc.2165T>G (p.Leu722Trp)
n.338T>G
c.2063T>G (p.Leu688Trp)
14g.50909907A>GCA389681937PYGLc.2165T>C (p.Leu722Ser)
n.338T>C
c.2063T>C (p.Leu688Ser)
14g.50909907A>TCA389681938PYGLc.2165T>A (p.Leu722Ter)
n.338T>A
c.2063T>A (p.Leu688Ter)
14g.50909908A>CCA389681939PYGLc.2164T>G (p.Leu722Val)
n.337T>G
c.2062T>G (p.Leu688Val)
14g.50909908A>GCA486375159PYGLc.2164T>C (p.Leu722=)
n.337T>C
c.2062T>C (p.Leu688=)
14g.50909908A>TCA389681941PYGLc.2164T>A (p.Leu722Met)
n.337T>A
c.2062T>A (p.Leu688Met)
14g.50909909A=CA2136414872PYGLc.2163T= (p.Ala721=)
n.336T=
c.2061T= (p.Ala687=)
14g.50909909A>CCA486375160PYGLc.2163T>G (p.Ala721=)
n.336T>G
c.2061T>G (p.Ala687=)
 dbSNP
14g.50909909A>GCA486375161PYGLc.2163T>C (p.Ala721=)
n.336T>C
c.2061T>C (p.Ala687=)
 ClinVar
14g.50909909A>TCA486375162PYGLc.2163T>A (p.Ala721=)
n.336T>A
c.2061T>A (p.Ala687=)
14g.50909910G>ACA7183215PYGLc.2162C>T (p.Ala721Val)
n.335C>T
c.2060C>T (p.Ala687Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50909910G>CCA7183214PYGLc.2162C>G (p.Ala721Gly)
n.335C>G
c.2060C>G (p.Ala687Gly)
 dbSNP ExAC gnomAD v2
14g.50909910G=CA2136414873PYGLc.2162C= (p.Ala721=)
n.335C=
c.2060C= (p.Ala687=)
14g.50909910G>TCA389681945PYGLc.2162C>A (p.Ala721Asp)
n.335C>A
c.2060C>A (p.Ala687Asp)
14g.50909911C>ACA389681947PYGLc.2161G>T (p.Ala721Ser)
n.334G>T
c.2059G>T (p.Ala687Ser)
14g.50909911C>GCA389681949PYGLc.2161G>C (p.Ala721Pro)
n.334G>C
c.2059G>C (p.Ala687Pro)
14g.50909911C>TCA389681951PYGLc.2161G>A (p.Ala721Thr)
n.334G>A
c.2059G>A (p.Ala687Thr)
14g.50909912A>CCA486375166PYGLc.2160T>G (p.Ala720=)
n.333T>G
c.2058T>G (p.Ala686=)
14g.50909912A>GCA486375169PYGLc.2160T>C (p.Ala720=)
n.333T>C
c.2058T>C (p.Ala686=)
14g.50909912A>TCA486375171PYGLc.2160T>A (p.Ala720=)
n.333T>A
c.2058T>A (p.Ala686=)
14g.50909913G>ACA389681956PYGLc.2159C>T (p.Ala720Val)
n.332C>T
c.2057C>T (p.Ala686Val)
14g.50909913G>CCA389681954PYGLc.2159C>G (p.Ala720Gly)
n.332C>G
c.2057C>G (p.Ala686Gly)
14g.50909913G=CA2136414875PYGLc.2159C= (p.Ala720=)
n.332C=
c.2057C= (p.Ala686=)
14g.50909913G>TCA7183216PYGLc.2159C>A (p.Ala720Asp)
n.332C>A
c.2057C>A (p.Ala686Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50909914C>ACA389681962PYGLc.2158G>T (p.Ala720Ser)
n.331G>T
c.2056G>T (p.Ala686Ser)
14g.50909914C>GCA389681958PYGLc.2158G>C (p.Ala720Pro)
n.331G>C
c.2056G>C (p.Ala686Pro)
 gnomAD v4
14g.50909914C>TCA389681960PYGLc.2158G>A (p.Ala720Thr)
n.331G>A
c.2056G>A (p.Ala686Thr)
14g.50909915C>ACA486375181PYGLc.2157G>T (p.Val719=)
n.330G>T
c.2055G>T (p.Val685=)
14g.50909915C>GCA486375182PYGLc.2157G>C (p.Val719=)
n.330G>C
c.2055G>C (p.Val685=)
14g.50909915C>TCA486375183PYGLc.2157G>A (p.Val719=)
n.330G>A
c.2055G>A (p.Val685=)
14g.50909916A=CA2136414877PYGLc.2156T= (p.Val719=)
n.329T=
c.2054T= (p.Val685=)
14g.50909916A>CCA389681964PYGLc.2156T>G (p.Val719Gly)
n.329T>G
c.2054T>G (p.Val685Gly)
14g.50909916A>GCA7183217PYGLc.2156T>C (p.Val719Ala)
n.329T>C
c.2054T>C (p.Val685Ala)
 dbSNP ExAC gnomAD v3 gnomAD v4
14g.50909916A>TCA389681967PYGLc.2156T>A (p.Val719Glu)
n.329T>A
c.2054T>A (p.Val685Glu)
14g.50909916_50909919delinsACATCA2136414878PYGLc.2153_2156delinsATGT (p.Asp718=)
n.326_329delinsATGT
c.2051_2054delinsATGT (p.Asp684=)
14g.50909917C>ACA389681970PYGLc.2155G>T (p.Val719Leu)
n.328G>T
c.2053G>T (p.Val685Leu)
14g.50909917C=CA2136414880PYGLc.2155G= (p.Val719=)
n.328G=
c.2053G= (p.Val685=)
14g.50909917C>GCA389681971PYGLc.2155G>C (p.Val719Leu)
n.328G>C
c.2053G>C (p.Val685Leu)
14g.50909917C>TCA7183218PYGLc.2155G>A (p.Val719Met)
n.328G>A
c.2053G>A (p.Val685Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50909921_50909923delCA614275229PYGLc.2153_2155del (p.Asp718del)
n.326_328del
c.2051_2053del (p.Asp684del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50909918A>CCA389681974PYGLc.2154T>G (p.Asp718Glu)
n.327T>G
c.2052T>G (p.Asp684Glu)
14g.50909918A>GCA486375192PYGLc.2154T>C (p.Asp718=)
n.327T>C
c.2052T>C (p.Asp684=)
14g.50909918A>TCA389681975PYGLc.2154T>A (p.Asp718Glu)
n.327T>A
c.2052T>A (p.Asp684Glu)
14g.50909919T>ACA389681978PYGLc.2153A>T (p.Asp718Val)
n.326A>T
c.2051A>T (p.Asp684Val)
14g.50909919T>CCA389681980PYGLc.2153A>G (p.Asp718Gly)
n.326A>G
c.2051A>G (p.Asp684Gly)
 gnomAD v4
14g.50909919T>GCA389681982PYGLc.2153A>C (p.Asp718Ala)
n.326A>C
c.2051A>C (p.Asp684Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.50909919T=CA2136414883PYGLc.2153A= (p.Asp718=)
n.326A=
c.2051A= (p.Asp684=)
14g.50909920C>ACA389681988PYGLc.2152G>T (p.Asp718Tyr)
n.325G>T
c.2050G>T (p.Asp684Tyr)
14g.50909920C>GCA389681984PYGLc.2152G>C (p.Asp718His)
n.325G>C
c.2050G>C (p.Asp684His)
14g.50909920C>TCA389681986PYGLc.2152G>A (p.Asp718Asn)
n.325G>A
c.2050G>A (p.Asp684Asn)
14g.50909921A>CCA389681990PYGLc.2151T>G (p.Asp717Glu)
n.324T>G
c.2049T>G (p.Asp683Glu)
14g.50909921A>GCA486375214PYGLc.2151T>C (p.Asp717=)
n.324T>C
c.2049T>C (p.Asp683=)
 gnomAD v4
14g.50909921A>TCA389681992PYGLc.2151T>A (p.Asp717Glu)
n.324T>A
c.2049T>A (p.Asp683Glu)
14g.50909922T>ACA389681994PYGLc.2150A>T (p.Asp717Val)
n.323A>T
c.2048A>T (p.Asp683Val)
14g.50909922T>CCA7183219PYGLc.2150A>G (p.Asp717Gly)
n.323A>G
c.2048A>G (p.Asp683Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50909922T>GCA389681997PYGLc.2150A>C (p.Asp717Ala)
n.323A>C
c.2048A>C (p.Asp683Ala)
14g.50909922T=CA2136414884PYGLc.2150A= (p.Asp717=)
n.323A=
c.2048A= (p.Asp683=)
14g.50909923C>ACA389681999PYGLc.2149G>T (p.Asp717Tyr)
n.322G>T
c.2047G>T (p.Asp683Tyr)
14g.50909923C>GCA389682000PYGLc.2149G>C (p.Asp717His)
n.322G>C
c.2047G>C (p.Asp683His)
14g.50909923C>TCA389682002PYGLc.2149G>A (p.Asp717Asn)
n.322G>A
c.2047G>A (p.Asp683Asn)
14g.50909923_50909924delinsCTCA2136414885PYGLc.2148_2149delinsAG (p.Ile716=)
n.321_322delinsAG
c.2046_2047delinsAG (p.Ile682=)
14g.50909924delCA7183220PYGLc.2148del (p.Ile716MetfsTer24)
n.321del
c.2046del (p.Ile682MetfsTer24)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.50909924T>ACA486375235PYGLc.2148A>T (p.Ile716=)
n.321A>T
c.2046A>T (p.Ile682=)
14g.50909924T>CCA389682004PYGLc.2148A>G (p.Ile716Met)
n.321A>G
c.2046A>G (p.Ile682Met)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.50909924T>GCA486375238PYGLc.2148A>C (p.Ile716=)
n.321A>C
c.2046A>C (p.Ile682=)
14g.50909924T=CA2136414887PYGLc.2148A= (p.Ile716=)
n.321A=
c.2046A= (p.Ile682=)
14g.50909925A=CA2136414888PYGLc.2147T= (p.Ile716=)
n.320T=
c.2045T= (p.Ile682=)
14g.50909925A>CCA389682007PYGLc.2147T>G (p.Ile716Arg)
n.320T>G
c.2045T>G (p.Ile682Arg)
14g.50909925A>GCA260821455PYGLc.2147T>C (p.Ile716Thr)
n.320T>C
c.2045T>C (p.Ile682Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.50909925A>TCA389682009PYGLc.2147T>A (p.Ile716Lys)
n.320T>A
c.2045T>A (p.Ile682Lys)
14g.50909926T>ACA389682013PYGLc.2146A>T (p.Ile716Leu)
n.319A>T
c.2044A>T (p.Ile682Leu)
 gnomAD v4
14g.50909926T>CCA389682014PYGLc.2146A>G (p.Ile716Val)
n.319A>G
c.2044A>G (p.Ile682Val)
 dbSNP
14g.50909926T>GCA389682011PYGLc.2146A>C (p.Ile716Leu)
n.319A>C
c.2044A>C (p.Ile682Leu)
14g.50909926T=CA2136414889PYGLc.2146A= (p.Ile716=)
n.319A=
c.2044A= (p.Ile682=)
14g.50909927C>ACA389682016PYGLc.2145G>T (p.Arg715Ser)
n.318G>T
c.2043G>T (p.Arg681Ser)
14g.50909927C=CA2136414891PYGLc.2145G= (p.Arg715=)
n.318G=
c.2043G= (p.Arg681=)
14g.50909927C>GCA260821461PYGLc.2145G>C (p.Arg715Ser)
n.318G>C
c.2043G>C (p.Arg681Ser)
 dbSNP
14g.50909927C>TCA486375256PYGLc.2145G>A (p.Arg715=)
n.318G>A
c.2043G>A (p.Arg681=)
 dbSNP gnomAD v2 gnomAD v4
14g.50909929_50909935delCA2575525318PYGLc.2139_2145del (p.Met714Ter)
n.312_318del
c.2037_2043del (p.Met680Ter)
14g.50909928C>ACA389682019PYGLc.2144G>T (p.Arg715Met)
n.317G>T
c.2042G>T (p.Arg681Met)
14g.50909928C=CA2136414893PYGLc.2144G= (p.Arg715=)
n.317G=
c.2042G= (p.Arg681=)
14g.50909928C>GCA389682021PYGLc.2144G>C (p.Arg715Thr)
n.317G>C
c.2042G>C (p.Arg681Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.50909928C>TCA389682023PYGLc.2144G>A (p.Arg715Lys)
n.317G>A
c.2042G>A (p.Arg681Lys)
 dbSNP
14g.50909929T>ACA389682026PYGLc.2143A>T (p.Arg715Trp)
n.316A>T
c.2041A>T (p.Arg681Trp)
14g.50909929T>CCA260821476PYGLc.2143A>G (p.Arg715Gly)
n.316A>G
c.2041A>G (p.Arg681Gly)
 dbSNP gnomAD v4
14g.50909929T>GCA486375263PYGLc.2143A>C (p.Arg715=)
n.316A>C
c.2041A>C (p.Arg681=)
14g.50909929T=CA2136414895PYGLc.2143A= (p.Arg715=)
n.316A=
c.2041A= (p.Arg681=)
14g.50909930C>ACA389682027PYGLc.2142G>T (p.Met714Ile)
n.315G>T
c.2040G>T (p.Met680Ile)
14g.50909930C=CA2136414897PYGLc.2142G= (p.Met714=)
n.315G=
c.2040G= (p.Met680=)
14g.50909930C>GCA389682028PYGLc.2142G>C (p.Met714Ile)
n.315G>C
c.2040G>C (p.Met680Ile)
14g.50909930C>TCA7183221PYGLc.2142G>A (p.Met714Ile)
n.315G>A
c.2040G>A (p.Met680Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50909931A>CCA389682032PYGLc.2141T>G (p.Met714Arg)
n.314T>G
c.2039T>G (p.Met680Arg)
14g.50909931A>GCA389682033PYGLc.2141T>C (p.Met714Thr)
n.314T>C
c.2039T>C (p.Met680Thr)
 gnomAD v4
14g.50909931A>TCA389682035PYGLc.2141T>A (p.Met714Lys)
n.314T>A
c.2039T>A (p.Met680Lys)
14g.50909932T>ACA389682042PYGLc.2140A>T (p.Met714Leu)
n.313A>T
c.2038A>T (p.Met680Leu)
14g.50909932T>CCA389682038PYGLc.2140A>G (p.Met714Val)
n.313A>G
c.2038A>G (p.Met680Val)
 gnomAD v4
14g.50909932T>GCA389682040PYGLc.2140A>C (p.Met714Leu)
n.313A>C
c.2038A>C (p.Met680Leu)
14g.50909933G>ACA486375280PYGLc.2139C>T (p.Gly713=)
n.312C>T
c.2037C>T (p.Gly679=)
14g.50909933G>CCA486375277PYGLc.2139C>G (p.Gly713=)
n.312C>G
c.2037C>G (p.Gly679=)
14g.50909933G>TCA486375278PYGLc.2139C>A (p.Gly713=)
n.312C>A
c.2037C>A (p.Gly679=)
14g.50909934C>ACA389682044PYGLc.2138G>T (p.Gly713Val)
n.311G>T
c.2036G>T (p.Gly679Val)
14g.50909934C=CA2136414899PYGLc.2138G= (p.Gly713=)
n.311G=
c.2036G= (p.Gly679=)
14g.50909934C>GCA389682046PYGLc.2138G>C (p.Gly713Ala)
n.311G>C
c.2036G>C (p.Gly679Ala)
14g.50909934C>TCA389682049PYGLc.2138G>A (p.Gly713Asp)
n.311G>A
c.2036G>A (p.Gly679Asp)
 dbSNP gnomAD v2 gnomAD v4
14g.50909935C>ACA389682051PYGLc.2137G>T (p.Gly713Cys)
n.310G>T
c.2035G>T (p.Gly679Cys)
14g.50909935C>GCA389682052PYGLc.2137G>C (p.Gly713Arg)
n.310G>C
c.2035G>C (p.Gly679Arg)
14g.50909935C>TCA389682054PYGLc.2137G>A (p.Gly713Ser)
n.310G>A
c.2035G>A (p.Gly679Ser)
14g.50909936A>CCA389682056PYGLc.2136T>G (p.Phe712Leu)
n.309T>G
c.2034T>G (p.Phe678Leu)
14g.50909936A>GCA486375293PYGLc.2136T>C (p.Phe712=)
n.309T>C
c.2034T>C (p.Phe678=)
14g.50909936A>TCA389682058PYGLc.2136T>A (p.Phe712Leu)
n.309T>A
c.2034T>A (p.Phe678Leu)
14g.50909938delCA2624826916PYGLc.2136del (p.Phe712LeufsTer3)
n.309del
c.2034del (p.Phe678LeufsTer3)
 gnomAD v4
14g.50909937A>CCA389682060PYGLc.2135T>G (p.Phe712Cys)
n.308T>G
c.2033T>G (p.Phe678Cys)
14g.50909937A>GCA389682062PYGLc.2135T>C (p.Phe712Ser)
n.308T>C
c.2033T>C (p.Phe678Ser)
14g.50909937A>TCA389682064PYGLc.2135T>A (p.Phe712Tyr)
n.308T>A
c.2033T>A (p.Phe678Tyr)
14g.50909938A>CCA389682068PYGLc.2134T>G (p.Phe712Val)
n.307T>G
c.2032T>G (p.Phe678Val)
14g.50909938A>GCA389682069PYGLc.2134T>C (p.Phe712Leu)
n.307T>C
c.2032T>C (p.Phe678Leu)
 gnomAD v4
14g.50909938A>TCA389682066PYGLc.2134T>A (p.Phe712Ile)
n.307T>A
c.2032T>A (p.Phe678Ile)
14g.50909939G>ACA486375306PYGLc.2133C>T (p.Ile711=)
n.306C>T
c.2031C>T (p.Ile677=)
14g.50909939G>CCA389682071PYGLc.2133C>G (p.Ile711Met)
n.306C>G
c.2031C>G (p.Ile677Met)
 dbSNP
14g.50909939G=CA2136414900PYGLc.2133C= (p.Ile711=)
n.306C=
c.2031C= (p.Ile677=)
14g.50909939G>TCA486375305PYGLc.2133C>A (p.Ile711=)
n.306C>A
c.2031C>A (p.Ile677=)
14g.50909940A>CCA389682072PYGLc.2132T>G (p.Ile711Ser)
n.305T>G
c.2030T>G (p.Ile677Ser)
14g.50909940A>GCA389682074PYGLc.2132T>C (p.Ile711Thr)
n.305T>C
c.2030T>C (p.Ile677Thr)
14g.50909940A>TCA389682076PYGLc.2132T>A (p.Ile711Asn)
n.305T>A
c.2030T>A (p.Ile677Asn)
14g.50909941T>ACA389682078PYGLc.2131A>T (p.Ile711Phe)
n.304A>T
c.2029A>T (p.Ile677Phe)
14g.50909941T>CCA389682080PYGLc.2131A>G (p.Ile711Val)
n.304A>G
c.2029A>G (p.Ile677Val)
14g.50909941T>GCA389682090PYGLc.2131A>C (p.Ile711Leu)
n.304A>C
c.2029A>C (p.Ile677Leu)
14g.50909942G>ACA486375317PYGLc.2130C>T (p.Phe710=)
n.303C>T
c.2028C>T (p.Phe676=)
 COSMIC
14g.50909942G>CCA389682092PYGLc.2130C>G (p.Phe710Leu)
n.303C>G
c.2028C>G (p.Phe676Leu)
14g.50909942G>TCA389682094PYGLc.2130C>A (p.Phe710Leu)
n.303C>A
c.2028C>A (p.Phe676Leu)
14g.50909942_50909945dupCA2695219347PYGLc.2127_2130dup (p.Ile711ValfsTer9)
n.300_303dup
c.2025_2028dup (p.Ile677ValfsTer9)
14g.50909943A>CCA389682096PYGLc.2129T>G (p.Phe710Cys)
n.302T>G
c.2027T>G (p.Phe676Cys)
14g.50909943A>GCA389682097PYGLc.2129T>C (p.Phe710Ser)
n.302T>C
c.2027T>C (p.Phe676Ser)
14g.50909943A>TCA389682102PYGLc.2129T>A (p.Phe710Tyr)
n.302T>A
c.2027T>A (p.Phe676Tyr)
14g.50909944A>CCA389682107PYGLc.2128T>G (p.Phe710Val)
n.301T>G
c.2026T>G (p.Phe676Val)
14g.50909944A>GCA389682113PYGLc.2128T>C (p.Phe710Leu)
n.301T>C
c.2026T>C (p.Phe676Leu)
14g.50909944A>TCA389682105PYGLc.2128T>A (p.Phe710Ile)
n.301T>A
c.2026T>A (p.Phe676Ile)
14g.50909945C>ACA486375336PYGLc.2127G>T (p.Leu709=)
n.300G>T
c.2025G>T (p.Leu675=)
14g.50909945C>GCA486375338PYGLc.2127G>C (p.Leu709=)
n.300G>C
c.2025G>C (p.Leu675=)
14g.50909945C>TCA486375339PYGLc.2127G>A (p.Leu709=)
n.300G>A
c.2025G>A (p.Leu675=)
14g.50909946A>CCA389682114PYGLc.2126T>G (p.Leu709Arg)
n.299T>G
c.2024T>G (p.Leu675Arg)
14g.50909946A>GCA389682116PYGLc.2126T>C (p.Leu709Pro)
n.299T>C
c.2024T>C (p.Leu675Pro)
 gnomAD v3 gnomAD v4
14g.50909946A>TCA389682118PYGLc.2126T>A (p.Leu709Gln)
n.299T>A
c.2024T>A (p.Leu675Gln)
14g.50909947G>ACA486375349PYGLc.2125C>T (p.Leu709=)
n.298C>T
c.2023C>T (p.Leu675=)
14g.50909947G>CCA389682119PYGLc.2125C>G (p.Leu709Val)
n.298C>G
c.2023C>G (p.Leu675Val)
 dbSNP
14g.50909947G=CA2136414902PYGLc.2125C= (p.Leu709=)
n.298C=
c.2023C= (p.Leu675=)
14g.50909947G>TCA389682120PYGLc.2125C>A (p.Leu709Met)
n.298C>A
c.2023C>A (p.Leu675Met)
14g.50909948G>ACA7183222PYGLc.2124C>T (p.Asn708=)
n.297C>T
c.2022C>T (p.Asn674=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50909948G>CCA389682122PYGLc.2124C>G (p.Asn708Lys)
n.297C>G
c.2022C>G (p.Asn674Lys)
14g.50909948G=CA2136414904PYGLc.2124C= (p.Asn708=)
n.297C=
c.2022C= (p.Asn674=)
14g.50909948G>TCA389682124PYGLc.2124C>A (p.Asn708Lys)
n.297C>A
c.2022C>A (p.Asn674Lys)
14g.50909949T>ACA389682131PYGLc.2123A>T (p.Asn708Ile)
n.296A>T
c.2021A>T (p.Asn674Ile)
14g.50909949T>CCA389682133PYGLc.2123A>G (p.Asn708Ser)
n.296A>G
c.2021A>G (p.Asn674Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.50909949T>GCA389682134PYGLc.2123A>C (p.Asn708Thr)
n.296A>C
c.2021A>C (p.Asn674Thr)
14g.50909949T=CA2136414906PYGLc.2123A= (p.Asn708=)
n.296A=
c.2021A= (p.Asn674=)
14g.50909950T>ACA389682137PYGLc.2122A>T (p.Asn708Tyr)
n.295A>T
c.2020A>T (p.Asn674Tyr)
14g.50909950T>CCA389682139PYGLc.2122A>G (p.Asn708Asp)
n.295A>G
c.2020A>G (p.Asn674Asp)
14g.50909950T>GCA389682141PYGLc.2122A>C (p.Asn708His)
n.295A>C
c.2020A>C (p.Asn674His)
14g.50909951C>ACA389682145PYGLc.2121G>T (p.Glu707Asp)
n.294G>T
c.2019G>T (p.Glu673Asp)
14g.50909951C=CA2136414908PYGLc.2121G= (p.Glu707=)
n.294G=
c.2019G= (p.Glu673=)
14g.50909951C>GCA389682143PYGLc.2121G>C (p.Glu707Asp)
n.294G>C
c.2019G>C (p.Glu673Asp)
 dbSNP gnomAD v4
14g.50909951C>TCA486375362PYGLc.2121G>A (p.Glu707=)
n.294G>A
c.2019G>A (p.Glu673=)
14g.50909952T>ACA389682148PYGLc.2120A>T (p.Glu707Val)
n.293A>T
c.2018A>T (p.Glu673Val)
14g.50909952T>CCA7183223PYGLc.2120A>G (p.Glu707Gly)
n.293A>G
c.2018A>G (p.Glu673Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50909952T>GCA389682159PYGLc.2120A>C (p.Glu707Ala)
n.293A>C
c.2018A>C (p.Glu673Ala)
14g.50909952T=CA2136414910PYGLc.2120A= (p.Glu707=)
n.293A=
c.2018A= (p.Glu673=)
14g.50909953C>ACA389682162PYGLc.2119G>T (p.Glu707Ter)
n.292G>T
c.2017G>T (p.Glu673Ter)
14g.50909953C>GCA389682164PYGLc.2119G>C (p.Glu707Gln)
n.292G>C
c.2017G>C (p.Glu673Gln)
14g.50909953C>TCA389682167PYGLc.2119G>A (p.Glu707Lys)
n.292G>A
c.2017G>A (p.Glu673Lys)
14g.50909954T>ACA389682170PYGLc.2118A>T (p.Glu706Asp)
n.291A>T
c.2016A>T (p.Glu672Asp)
14g.50909954T>CCA486375378PYGLc.2118A>G (p.Glu706=)
n.291A>G
c.2016A>G (p.Glu672=)
 dbSNP gnomAD v4
14g.50909954T>GCA389682171PYGLc.2118A>C (p.Glu706Asp)
n.291A>C
c.2016A>C (p.Glu672Asp)
14g.50909954T=CA2136414912PYGLc.2118A= (p.Glu706=)
n.291A=
c.2016A= (p.Glu672=)
14g.50909955T>ACA389682173PYGLc.2117A>T (p.Glu706Val)
n.290A>T
c.2015A>T (p.Glu672Val)
14g.50909955T>CCA389682176PYGLc.2117A>G (p.Glu706Gly)
n.290A>G
c.2015A>G (p.Glu672Gly)
14g.50909955T>GCA389682179PYGLc.2117A>C (p.Glu706Ala)
n.290A>C
c.2015A>C (p.Glu672Ala)
14g.50909956C>ACA389682189PYGLc.2116G>T (p.Glu706Ter)
n.289G>T
c.2014G>T (p.Glu672Ter)
14g.50909956C>GCA389682195PYGLc.2116G>C (p.Glu706Gln)
n.289G>C
c.2014G>C (p.Glu672Gln)
14g.50909956C>TCA389682197PYGLc.2116G>A (p.Glu706Lys)
n.289G>A
c.2014G>A (p.Glu672Lys)
14g.50909957C>ACA486375400PYGLc.2115G>T (p.Gly705=)
n.288G>T
c.2013G>T (p.Gly671=)
14g.50909957C>GCA486375401PYGLc.2115G>C (p.Gly705=)
n.288G>C
c.2013G>C (p.Gly671=)
14g.50909957C>TCA486375409PYGLc.2115G>A (p.Gly705=)
n.288G>A
c.2013G>A (p.Gly671=)
14g.50909958C>ACA389682204PYGLc.2114G>T (p.Gly705Val)
n.287G>T
c.2012G>T (p.Gly671Val)
14g.50909958C=CA2136414914PYGLc.2114G= (p.Gly705=)
n.287G=
c.2012G= (p.Gly671=)
14g.50909958C>GCA389682201PYGLc.2114G>C (p.Gly705Ala)
n.287G>C
c.2012G>C (p.Gly671Ala)
14g.50909958C>TCA389682199PYGLc.2114G>A (p.Gly705Glu)
n.287G>A
c.2012G>A (p.Gly671Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50909959C>ACA389682211PYGLc.2113G>T (p.Gly705Trp)
n.286G>T
c.2011G>T (p.Gly671Trp)
 COSMIC
14g.50909959C=CA2136414915PYGLc.2113G= (p.Gly705=)
n.286G=
c.2011G= (p.Gly671=)
14g.50909959C>GCA389682213PYGLc.2113G>C (p.Gly705Arg)
n.286G>C
c.2011G>C (p.Gly671Arg)
 dbSNP
14g.50909959C>TCA389682217PYGLc.2113G>A (p.Gly705Arg)
n.286G>A
c.2011G>A (p.Gly671Arg)
14g.50909960A=CA2136414917PYGLc.2112T= (p.Ala704=)
n.285T=
c.2010T= (p.Ala670=)
14g.50909960A>CCA486375423PYGLc.2112T>G (p.Ala704=)
n.285T>G
c.2010T>G (p.Ala670=)
14g.50909960A>GCA201328PYGLc.2112T>C (p.Ala704=)
n.285T>C
c.2010T>C (p.Ala670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.50909960A>TCA486375429PYGLc.2112T>A (p.Ala704=)
n.285T>A
c.2010T>A (p.Ala670=)
14g.50909961G>ACA389682222PYGLc.2111C>T (p.Ala704Val)
n.284C>T
c.2009C>T (p.Ala670Val)
14g.50909961G>CCA389682223PYGLc.2111C>G (p.Ala704Gly)
n.284C>G
c.2009C>G (p.Ala670Gly)
 gnomAD v4
14g.50909961G>TCA389682224PYGLc.2111C>A (p.Ala704Asp)
n.284C>A
c.2009C>A (p.Ala670Asp)
14g.50909961_50909964delinsGCTTCA2136414919PYGLc.2108_2111delinsAAGC (p.Glu703=)
n.281_284delinsAAGC
c.2006_2009delinsAAGC (p.Glu669=)

Number of alleles fetched