Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.75310080C>ACA388272834TBC1D4c.2455G>T (p.Val819Leu)
c.1723G>T (p.Val575Leu)
c.2266G>T (p.Val756Leu)
c.802G>T (p.Val268Leu)
c.2431G>T (p.Val811Leu)
n.314G>T
c.2380G>T (p.Val794Leu)
c.1912G>T (p.Val638Leu)
c.1981G>T (p.Val661Leu)
c.2344G>T (p.Val782Leu)
c.1612G>T (p.Val538Leu)
c.22G>T (p.Val8Leu)
13g.75310080C=CA2102689361TBC1D4c.2455G= (p.Val819=)
c.1723G= (p.Val575=)
c.2266G= (p.Val756=)
c.802G= (p.Val268=)
c.2431G= (p.Val811=)
n.314G=
c.2380G= (p.Val794=)
c.1912G= (p.Val638=)
c.1981G= (p.Val661=)
c.2344G= (p.Val782=)
c.1612G= (p.Val538=)
c.22G= (p.Val8=)
13g.75310080C>GCA388272835TBC1D4c.2455G>C (p.Val819Leu)
c.1723G>C (p.Val575Leu)
c.2266G>C (p.Val756Leu)
c.802G>C (p.Val268Leu)
c.2431G>C (p.Val811Leu)
n.314G>C
c.2380G>C (p.Val794Leu)
c.1912G>C (p.Val638Leu)
c.1981G>C (p.Val661Leu)
c.2344G>C (p.Val782Leu)
c.1612G>C (p.Val538Leu)
c.22G>C (p.Val8Leu)
13g.75310080C>TCA214715TBC1D4c.2455G>A (p.Val819Ile)
c.1723G>A (p.Val575Ile)
c.2266G>A (p.Val756Ile)
c.802G>A (p.Val268Ile)
c.2431G>A (p.Val811Ile)
n.314G>A
c.2380G>A (p.Val794Ile)
c.1912G>A (p.Val638Ile)
c.1981G>A (p.Val661Ile)
c.2344G>A (p.Val782Ile)
c.1612G>A (p.Val538Ile)
c.22G>A (p.Val8Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.75310081A>CCA484056418TBC1D4c.2454T>G (p.Val818=)
c.1722T>G (p.Val574=)
c.2265T>G (p.Val755=)
c.801T>G (p.Val267=)
c.2430T>G (p.Val810=)
n.313T>G
c.2379T>G (p.Val793=)
c.1911T>G (p.Val637=)
c.1980T>G (p.Val660=)
c.2343T>G (p.Val781=)
c.1611T>G (p.Val537=)
c.21T>G (p.Val7=)
13g.75310081A>GCA484056419TBC1D4c.2454T>C (p.Val818=)
c.1722T>C (p.Val574=)
c.2265T>C (p.Val755=)
c.801T>C (p.Val267=)
c.2430T>C (p.Val810=)
n.313T>C
c.2379T>C (p.Val793=)
c.1911T>C (p.Val637=)
c.1980T>C (p.Val660=)
c.2343T>C (p.Val781=)
c.1611T>C (p.Val537=)
c.21T>C (p.Val7=)
13g.75310081A>TCA484056420TBC1D4c.2454T>A (p.Val818=)
c.1722T>A (p.Val574=)
c.2265T>A (p.Val755=)
c.801T>A (p.Val267=)
c.2430T>A (p.Val810=)
n.313T>A
c.2379T>A (p.Val793=)
c.1911T>A (p.Val637=)
c.1980T>A (p.Val660=)
c.2343T>A (p.Val781=)
c.1611T>A (p.Val537=)
c.21T>A (p.Val7=)
13g.75310082A=CA2102689365TBC1D4c.2453T= (p.Val818=)
c.1721T= (p.Val574=)
c.2264T= (p.Val755=)
c.800T= (p.Val267=)
c.2429T= (p.Val810=)
n.312T=
c.2378T= (p.Val793=)
c.1910T= (p.Val637=)
c.1979T= (p.Val660=)
c.2342T= (p.Val781=)
c.1610T= (p.Val537=)
c.20T= (p.Val7=)
13g.75310082A>CCA388272839TBC1D4c.2453T>G (p.Val818Gly)
c.1721T>G (p.Val574Gly)
c.2264T>G (p.Val755Gly)
c.800T>G (p.Val267Gly)
c.2429T>G (p.Val810Gly)
n.312T>G
c.2378T>G (p.Val793Gly)
c.1910T>G (p.Val637Gly)
c.1979T>G (p.Val660Gly)
c.2342T>G (p.Val781Gly)
c.1610T>G (p.Val537Gly)
c.20T>G (p.Val7Gly)
13g.75310082A>GCA388272840TBC1D4c.2453T>C (p.Val818Ala)
c.1721T>C (p.Val574Ala)
c.2264T>C (p.Val755Ala)
c.800T>C (p.Val267Ala)
c.2429T>C (p.Val810Ala)
n.312T>C
c.2378T>C (p.Val793Ala)
c.1910T>C (p.Val637Ala)
c.1979T>C (p.Val660Ala)
c.2342T>C (p.Val781Ala)
c.1610T>C (p.Val537Ala)
c.20T>C (p.Val7Ala)
dbSNP gnomAD v3 gnomAD v4
13g.75310082A>TCA388272842TBC1D4c.2453T>A (p.Val818Asp)
c.1721T>A (p.Val574Asp)
c.2264T>A (p.Val755Asp)
c.800T>A (p.Val267Asp)
c.2429T>A (p.Val810Asp)
n.312T>A
c.2378T>A (p.Val793Asp)
c.1910T>A (p.Val637Asp)
c.1979T>A (p.Val660Asp)
c.2342T>A (p.Val781Asp)
c.1610T>A (p.Val537Asp)
c.20T>A (p.Val7Asp)
13g.75310083C>ACA388272849TBC1D4c.2452G>T (p.Val818Phe)
c.1720G>T (p.Val574Phe)
c.2263G>T (p.Val755Phe)
c.799G>T (p.Val267Phe)
c.2428G>T (p.Val810Phe)
n.311G>T
c.2377G>T (p.Val793Phe)
c.1909G>T (p.Val637Phe)
c.1978G>T (p.Val660Phe)
c.2341G>T (p.Val781Phe)
c.1609G>T (p.Val537Phe)
c.19G>T (p.Val7Phe)
13g.75310083C=CA2102689368TBC1D4c.2452G= (p.Val818=)
c.1720G= (p.Val574=)
c.2263G= (p.Val755=)
c.799G= (p.Val267=)
c.2428G= (p.Val810=)
n.311G=
c.2377G= (p.Val793=)
c.1909G= (p.Val637=)
c.1978G= (p.Val660=)
c.2341G= (p.Val781=)
c.1609G= (p.Val537=)
c.19G= (p.Val7=)
13g.75310083C>GCA388272848TBC1D4c.2452G>C (p.Val818Leu)
c.1720G>C (p.Val574Leu)
c.2263G>C (p.Val755Leu)
c.799G>C (p.Val267Leu)
c.2428G>C (p.Val810Leu)
n.311G>C
c.2377G>C (p.Val793Leu)
c.1909G>C (p.Val637Leu)
c.1978G>C (p.Val660Leu)
c.2341G>C (p.Val781Leu)
c.1609G>C (p.Val537Leu)
c.19G>C (p.Val7Leu)
13g.75310083C>TCA388272845TBC1D4c.2452G>A (p.Val818Ile)
c.1720G>A (p.Val574Ile)
c.2263G>A (p.Val755Ile)
c.799G>A (p.Val267Ile)
c.2428G>A (p.Val810Ile)
n.311G>A
c.2377G>A (p.Val793Ile)
c.1909G>A (p.Val637Ile)
c.1978G>A (p.Val660Ile)
c.2341G>A (p.Val781Ile)
c.1609G>A (p.Val537Ile)
c.19G>A (p.Val7Ile)
dbSNP gnomAD v4
13g.75310084C>ACA484056421TBC1D4c.2451G>T (p.Leu817=)
c.1719G>T (p.Leu573=)
c.2262G>T (p.Leu754=)
c.798G>T (p.Leu266=)
c.2427G>T (p.Leu809=)
n.310G>T
c.2376G>T (p.Leu792=)
c.1908G>T (p.Leu636=)
c.1977G>T (p.Leu659=)
c.2340G>T (p.Leu780=)
c.1608G>T (p.Leu536=)
c.18G>T (p.Leu6=)
13g.75310084C>GCA484056422TBC1D4c.2451G>C (p.Leu817=)
c.1719G>C (p.Leu573=)
c.2262G>C (p.Leu754=)
c.798G>C (p.Leu266=)
c.2427G>C (p.Leu809=)
n.310G>C
c.2376G>C (p.Leu792=)
c.1908G>C (p.Leu636=)
c.1977G>C (p.Leu659=)
c.2340G>C (p.Leu780=)
c.1608G>C (p.Leu536=)
c.18G>C (p.Leu6=)
13g.75310084C>TCA484056423TBC1D4c.2451G>A (p.Leu817=)
c.1719G>A (p.Leu573=)
c.2262G>A (p.Leu754=)
c.798G>A (p.Leu266=)
c.2427G>A (p.Leu809=)
n.310G>A
c.2376G>A (p.Leu792=)
c.1908G>A (p.Leu636=)
c.1977G>A (p.Leu659=)
c.2340G>A (p.Leu780=)
c.1608G>A (p.Leu536=)
c.18G>A (p.Leu6=)
13g.75310085A>CCA388272853TBC1D4c.2450T>G (p.Leu817Arg)
c.1718T>G (p.Leu573Arg)
c.2261T>G (p.Leu754Arg)
c.797T>G (p.Leu266Arg)
c.2426T>G (p.Leu809Arg)
n.309T>G
c.2375T>G (p.Leu792Arg)
c.1907T>G (p.Leu636Arg)
c.1976T>G (p.Leu659Arg)
c.2339T>G (p.Leu780Arg)
c.1607T>G (p.Leu536Arg)
c.17T>G (p.Leu6Arg)
13g.75310085A>GCA388272854TBC1D4c.2450T>C (p.Leu817Pro)
c.1718T>C (p.Leu573Pro)
c.2261T>C (p.Leu754Pro)
c.797T>C (p.Leu266Pro)
c.2426T>C (p.Leu809Pro)
n.309T>C
c.2375T>C (p.Leu792Pro)
c.1907T>C (p.Leu636Pro)
c.1976T>C (p.Leu659Pro)
c.2339T>C (p.Leu780Pro)
c.1607T>C (p.Leu536Pro)
c.17T>C (p.Leu6Pro)
13g.75310085A>TCA388272857TBC1D4c.2450T>A (p.Leu817Gln)
c.1718T>A (p.Leu573Gln)
c.2261T>A (p.Leu754Gln)
c.797T>A (p.Leu266Gln)
c.2426T>A (p.Leu809Gln)
n.309T>A
c.2375T>A (p.Leu792Gln)
c.1907T>A (p.Leu636Gln)
c.1976T>A (p.Leu659Gln)
c.2339T>A (p.Leu780Gln)
c.1607T>A (p.Leu536Gln)
c.17T>A (p.Leu6Gln)
13g.75310086G>ACA484056424TBC1D4c.2449C>T (p.Leu817=)
c.1717C>T (p.Leu573=)
c.2260C>T (p.Leu754=)
c.796C>T (p.Leu266=)
c.2425C>T (p.Leu809=)
n.308C>T
c.2374C>T (p.Leu792=)
c.1906C>T (p.Leu636=)
c.1975C>T (p.Leu659=)
c.2338C>T (p.Leu780=)
c.1606C>T (p.Leu536=)
c.16C>T (p.Leu6=)
gnomAD v4
13g.75310086G>CCA388272860TBC1D4c.2449C>G (p.Leu817Val)
c.1717C>G (p.Leu573Val)
c.2260C>G (p.Leu754Val)
c.796C>G (p.Leu266Val)
c.2425C>G (p.Leu809Val)
n.308C>G
c.2374C>G (p.Leu792Val)
c.1906C>G (p.Leu636Val)
c.1975C>G (p.Leu659Val)
c.2338C>G (p.Leu780Val)
c.1606C>G (p.Leu536Val)
c.16C>G (p.Leu6Val)
13g.75310086G>TCA388272861TBC1D4c.2449C>A (p.Leu817Met)
c.1717C>A (p.Leu573Met)
c.2260C>A (p.Leu754Met)
c.796C>A (p.Leu266Met)
c.2425C>A (p.Leu809Met)
n.308C>A
c.2374C>A (p.Leu792Met)
c.1906C>A (p.Leu636Met)
c.1975C>A (p.Leu659Met)
c.2338C>A (p.Leu780Met)
c.1606C>A (p.Leu536Met)
c.16C>A (p.Leu6Met)
13g.75310087C>ACA484056425TBC1D4c.2448G>T (p.Pro816=)
c.1716G>T (p.Pro572=)
c.2259G>T (p.Pro753=)
c.795G>T (p.Pro265=)
c.2424G>T (p.Pro808=)
n.307G>T
c.2373G>T (p.Pro791=)
c.1905G>T (p.Pro635=)
c.1974G>T (p.Pro658=)
c.2337G>T (p.Pro779=)
c.1605G>T (p.Pro535=)
c.15G>T (p.Pro5=)
gnomAD v4
13g.75310087C=CA2102689370TBC1D4c.2448G= (p.Pro816=)
c.1716G= (p.Pro572=)
c.2259G= (p.Pro753=)
c.795G= (p.Pro265=)
c.2424G= (p.Pro808=)
n.307G=
c.2373G= (p.Pro791=)
c.1905G= (p.Pro635=)
c.1974G= (p.Pro658=)
c.2337G= (p.Pro779=)
c.1605G= (p.Pro535=)
c.15G= (p.Pro5=)
13g.75310087C>GCA484056426TBC1D4c.2448G>C (p.Pro816=)
c.1716G>C (p.Pro572=)
c.2259G>C (p.Pro753=)
c.795G>C (p.Pro265=)
c.2424G>C (p.Pro808=)
n.307G>C
c.2373G>C (p.Pro791=)
c.1905G>C (p.Pro635=)
c.1974G>C (p.Pro658=)
c.2337G>C (p.Pro779=)
c.1605G>C (p.Pro535=)
c.15G>C (p.Pro5=)
13g.75310087C>TCA7003695TBC1D4c.2448G>A (p.Pro816=)
c.1716G>A (p.Pro572=)
c.2259G>A (p.Pro753=)
c.795G>A (p.Pro265=)
c.2424G>A (p.Pro808=)
n.307G>A
c.2373G>A (p.Pro791=)
c.1905G>A (p.Pro635=)
c.1974G>A (p.Pro658=)
c.2337G>A (p.Pro779=)
c.1605G>A (p.Pro535=)
c.15G>A (p.Pro5=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.75310088G>ACA7003696TBC1D4c.2447C>T (p.Pro816Leu)
c.1715C>T (p.Pro572Leu)
c.2258C>T (p.Pro753Leu)
c.794C>T (p.Pro265Leu)
c.2423C>T (p.Pro808Leu)
n.306C>T
c.2372C>T (p.Pro791Leu)
c.1904C>T (p.Pro635Leu)
c.1973C>T (p.Pro658Leu)
c.2336C>T (p.Pro779Leu)
c.1604C>T (p.Pro535Leu)
c.14C>T (p.Pro5Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.75310088G>CCA388272866TBC1D4c.2447C>G (p.Pro816Arg)
c.1715C>G (p.Pro572Arg)
c.2258C>G (p.Pro753Arg)
c.794C>G (p.Pro265Arg)
c.2423C>G (p.Pro808Arg)
n.306C>G
c.2372C>G (p.Pro791Arg)
c.1904C>G (p.Pro635Arg)
c.1973C>G (p.Pro658Arg)
c.2336C>G (p.Pro779Arg)
c.1604C>G (p.Pro535Arg)
c.14C>G (p.Pro5Arg)
dbSNP gnomAD v2 gnomAD v4
13g.75310088G=CA2102689375TBC1D4c.2447C= (p.Pro816=)
c.1715C= (p.Pro572=)
c.2258C= (p.Pro753=)
c.794C= (p.Pro265=)
c.2423C= (p.Pro808=)
n.306C=
c.2372C= (p.Pro791=)
c.1904C= (p.Pro635=)
c.1973C= (p.Pro658=)
c.2336C= (p.Pro779=)
c.1604C= (p.Pro535=)
c.14C= (p.Pro5=)
13g.75310088G>TCA388272868TBC1D4c.2447C>A (p.Pro816Gln)
c.1715C>A (p.Pro572Gln)
c.2258C>A (p.Pro753Gln)
c.794C>A (p.Pro265Gln)
c.2423C>A (p.Pro808Gln)
n.306C>A
c.2372C>A (p.Pro791Gln)
c.1904C>A (p.Pro635Gln)
c.1973C>A (p.Pro658Gln)
c.2336C>A (p.Pro779Gln)
c.1604C>A (p.Pro535Gln)
c.14C>A (p.Pro5Gln)
dbSNP gnomAD v4
13g.75310089G>ACA388272870TBC1D4c.2446C>T (p.Pro816Ser)
c.1714C>T (p.Pro572Ser)
c.2257C>T (p.Pro753Ser)
c.793C>T (p.Pro265Ser)
c.2422C>T (p.Pro808Ser)
n.305C>T
c.2371C>T (p.Pro791Ser)
c.1903C>T (p.Pro635Ser)
c.1972C>T (p.Pro658Ser)
c.2335C>T (p.Pro779Ser)
c.1603C>T (p.Pro535Ser)
c.13C>T (p.Pro5Ser)
gnomAD v4
13g.75310089G>CCA388272873TBC1D4c.2446C>G (p.Pro816Ala)
c.1714C>G (p.Pro572Ala)
c.2257C>G (p.Pro753Ala)
c.793C>G (p.Pro265Ala)
c.2422C>G (p.Pro808Ala)
n.305C>G
c.2371C>G (p.Pro791Ala)
c.1903C>G (p.Pro635Ala)
c.1972C>G (p.Pro658Ala)
c.2335C>G (p.Pro779Ala)
c.1603C>G (p.Pro535Ala)
c.13C>G (p.Pro5Ala)
dbSNP
13g.75310089G=CA2102689380TBC1D4c.2446C= (p.Pro816=)
c.1714C= (p.Pro572=)
c.2257C= (p.Pro753=)
c.793C= (p.Pro265=)
c.2422C= (p.Pro808=)
n.305C=
c.2371C= (p.Pro791=)
c.1903C= (p.Pro635=)
c.1972C= (p.Pro658=)
c.2335C= (p.Pro779=)
c.1603C= (p.Pro535=)
c.13C= (p.Pro5=)
13g.75310089G>TCA388272875TBC1D4c.2446C>A (p.Pro816Thr)
c.1714C>A (p.Pro572Thr)
c.2257C>A (p.Pro753Thr)
c.793C>A (p.Pro265Thr)
c.2422C>A (p.Pro808Thr)
n.305C>A
c.2371C>A (p.Pro791Thr)
c.1903C>A (p.Pro635Thr)
c.1972C>A (p.Pro658Thr)
c.2335C>A (p.Pro779Thr)
c.1603C>A (p.Pro535Thr)
c.13C>A (p.Pro5Thr)
13g.75310090T>ACA388272877TBC1D4c.2445A>T (p.Glu815Asp)
c.1713A>T (p.Glu571Asp)
c.2256A>T (p.Glu752Asp)
c.792A>T (p.Glu264Asp)
c.2421A>T (p.Glu807Asp)
n.304A>T
c.2370A>T (p.Glu790Asp)
c.1902A>T (p.Glu634Asp)
c.1971A>T (p.Glu657Asp)
c.2334A>T (p.Glu778Asp)
c.1602A>T (p.Glu534Asp)
c.12A>T (p.Glu4Asp)
13g.75310090T>CCA484056427TBC1D4c.2445A>G (p.Glu815=)
c.1713A>G (p.Glu571=)
c.2256A>G (p.Glu752=)
c.792A>G (p.Glu264=)
c.2421A>G (p.Glu807=)
n.304A>G
c.2370A>G (p.Glu790=)
c.1902A>G (p.Glu634=)
c.1971A>G (p.Glu657=)
c.2334A>G (p.Glu778=)
c.1602A>G (p.Glu534=)
c.12A>G (p.Glu4=)
gnomAD v4
13g.75310090T>GCA388272879TBC1D4c.2445A>C (p.Glu815Asp)
c.1713A>C (p.Glu571Asp)
c.2256A>C (p.Glu752Asp)
c.792A>C (p.Glu264Asp)
c.2421A>C (p.Glu807Asp)
n.304A>C
c.2370A>C (p.Glu790Asp)
c.1902A>C (p.Glu634Asp)
c.1971A>C (p.Glu657Asp)
c.2334A>C (p.Glu778Asp)
c.1602A>C (p.Glu534Asp)
c.12A>C (p.Glu4Asp)
dbSNP
13g.75310090T=CA2102689383TBC1D4c.2445A= (p.Glu815=)
c.1713A= (p.Glu571=)
c.2256A= (p.Glu752=)
c.792A= (p.Glu264=)
c.2421A= (p.Glu807=)
n.304A=
c.2370A= (p.Glu790=)
c.1902A= (p.Glu634=)
c.1971A= (p.Glu657=)
c.2334A= (p.Glu778=)
c.1602A= (p.Glu534=)
c.12A= (p.Glu4=)
13g.75310091T>ACA388272885TBC1D4c.2444A>T (p.Glu815Val)
c.1712A>T (p.Glu571Val)
c.2255A>T (p.Glu752Val)
c.791A>T (p.Glu264Val)
c.2420A>T (p.Glu807Val)
n.303A>T
c.2369A>T (p.Glu790Val)
c.1901A>T (p.Glu634Val)
c.1970A>T (p.Glu657Val)
c.2333A>T (p.Glu778Val)
c.1601A>T (p.Glu534Val)
c.11A>T (p.Glu4Val)
13g.75310091T>CCA388272886TBC1D4c.2444A>G (p.Glu815Gly)
c.1712A>G (p.Glu571Gly)
c.2255A>G (p.Glu752Gly)
c.791A>G (p.Glu264Gly)
c.2420A>G (p.Glu807Gly)
n.303A>G
c.2369A>G (p.Glu790Gly)
c.1901A>G (p.Glu634Gly)
c.1970A>G (p.Glu657Gly)
c.2333A>G (p.Glu778Gly)
c.1601A>G (p.Glu534Gly)
c.11A>G (p.Glu4Gly)
13g.75310091T>GCA388272883TBC1D4c.2444A>C (p.Glu815Ala)
c.1712A>C (p.Glu571Ala)
c.2255A>C (p.Glu752Ala)
c.791A>C (p.Glu264Ala)
c.2420A>C (p.Glu807Ala)
n.303A>C
c.2369A>C (p.Glu790Ala)
c.1901A>C (p.Glu634Ala)
c.1970A>C (p.Glu657Ala)
c.2333A>C (p.Glu778Ala)
c.1601A>C (p.Glu534Ala)
c.11A>C (p.Glu4Ala)
13g.75310092C>ACA388272887TBC1D4c.2443G>T (p.Glu815Ter)
c.1711G>T (p.Glu571Ter)
c.2254G>T (p.Glu752Ter)
c.790G>T (p.Glu264Ter)
c.2419G>T (p.Glu807Ter)
n.302G>T
c.2368G>T (p.Glu790Ter)
c.1900G>T (p.Glu634Ter)
c.1969G>T (p.Glu657Ter)
c.2332G>T (p.Glu778Ter)
c.1600G>T (p.Glu534Ter)
c.10G>T (p.Glu4Ter)
13g.75310092C>GCA388272889TBC1D4c.2443G>C (p.Glu815Gln)
c.1711G>C (p.Glu571Gln)
c.2254G>C (p.Glu752Gln)
c.790G>C (p.Glu264Gln)
c.2419G>C (p.Glu807Gln)
n.302G>C
c.2368G>C (p.Glu790Gln)
c.1900G>C (p.Glu634Gln)
c.1969G>C (p.Glu657Gln)
c.2332G>C (p.Glu778Gln)
c.1600G>C (p.Glu534Gln)
c.10G>C (p.Glu4Gln)
13g.75310092C>TCA388272891TBC1D4c.2443G>A (p.Glu815Lys)
c.1711G>A (p.Glu571Lys)
c.2254G>A (p.Glu752Lys)
c.790G>A (p.Glu264Lys)
c.2419G>A (p.Glu807Lys)
n.302G>A
c.2368G>A (p.Glu790Lys)
c.1900G>A (p.Glu634Lys)
c.1969G>A (p.Glu657Lys)
c.2332G>A (p.Glu778Lys)
c.1600G>A (p.Glu534Lys)
c.10G>A (p.Glu4Lys)
13g.75310093C>ACA388272894TBC1D4c.2442G>T (p.Glu814Asp)
c.1710G>T (p.Glu570Asp)
c.2253G>T (p.Glu751Asp)
c.789G>T (p.Glu263Asp)
c.2418G>T (p.Glu806Asp)
n.301G>T
c.2367G>T (p.Glu789Asp)
c.1899G>T (p.Glu633Asp)
c.1968G>T (p.Glu656Asp)
c.2331G>T (p.Glu777Asp)
c.1599G>T (p.Glu533Asp)
c.9G>T (p.Glu3Asp)
13g.75310093C>GCA388272896TBC1D4c.2442G>C (p.Glu814Asp)
c.1710G>C (p.Glu570Asp)
c.2253G>C (p.Glu751Asp)
c.789G>C (p.Glu263Asp)
c.2418G>C (p.Glu806Asp)
n.301G>C
c.2367G>C (p.Glu789Asp)
c.1899G>C (p.Glu633Asp)
c.1968G>C (p.Glu656Asp)
c.2331G>C (p.Glu777Asp)
c.1599G>C (p.Glu533Asp)
c.9G>C (p.Glu3Asp)
13g.75310093C>TCA484056428TBC1D4c.2442G>A (p.Glu814=)
c.1710G>A (p.Glu570=)
c.2253G>A (p.Glu751=)
c.789G>A (p.Glu263=)
c.2418G>A (p.Glu806=)
n.301G>A
c.2367G>A (p.Glu789=)
c.1899G>A (p.Glu633=)
c.1968G>A (p.Glu656=)
c.2331G>A (p.Glu777=)
c.1599G>A (p.Glu533=)
c.9G>A (p.Glu3=)
13g.75310094T>ACA388272899TBC1D4c.2441A>T (p.Glu814Val)
c.1709A>T (p.Glu570Val)
c.2252A>T (p.Glu751Val)
c.788A>T (p.Glu263Val)
c.2417A>T (p.Glu806Val)
n.300A>T
c.2366A>T (p.Glu789Val)
c.1898A>T (p.Glu633Val)
c.1967A>T (p.Glu656Val)
c.2330A>T (p.Glu777Val)
c.1598A>T (p.Glu533Val)
c.8A>T (p.Glu3Val)

Number of alleles fetched