Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.75310080C>A | CA388272834 | TBC1D4 | c.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) | |
13 | g.75310080C= | CA2102689361 | TBC1D4 | c.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=) | |
13 | g.75310080C>G | CA388272835 | TBC1D4 | c.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) | |
13 | g.75310080C>T | CA214715 | TBC1D4 | c.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 |
13 | g.75310081A>C | CA484056418 | TBC1D4 | c.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=) | |
13 | g.75310081A>G | CA484056419 | TBC1D4 | c.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=) | |
13 | g.75310081A>T | CA484056420 | TBC1D4 | c.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=) | |
13 | g.75310082A= | CA2102689365 | TBC1D4 | c.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=) | |
13 | g.75310082A>C | CA388272839 | TBC1D4 | c.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) | |
13 | g.75310082A>G | CA388272840 | TBC1D4 | c.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 |
13 | g.75310082A>T | CA388272842 | TBC1D4 | c.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) | |
13 | g.75310083C>A | CA388272849 | TBC1D4 | c.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) | |
13 | g.75310083C= | CA2102689368 | TBC1D4 | c.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=) | |
13 | g.75310083C>G | CA388272848 | TBC1D4 | c.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) | |
13 | g.75310083C>T | CA388272845 | TBC1D4 | c.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 |
13 | g.75310084C>A | CA484056421 | TBC1D4 | c.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=) | |
13 | g.75310084C>G | CA484056422 | TBC1D4 | c.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=) | |
13 | g.75310084C>T | CA484056423 | TBC1D4 | c.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=) | |
13 | g.75310085A>C | CA388272853 | TBC1D4 | c.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) | |
13 | g.75310085A>G | CA388272854 | TBC1D4 | c.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) | |
13 | g.75310085A>T | CA388272857 | TBC1D4 | c.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) | |
13 | g.75310086G>A | CA484056424 | TBC1D4 | c.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 |
13 | g.75310086G>C | CA388272860 | TBC1D4 | c.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) | |
13 | g.75310086G>T | CA388272861 | TBC1D4 | c.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) | |
13 | g.75310087C>A | CA484056425 | TBC1D4 | c.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 |
13 | g.75310087C= | CA2102689370 | TBC1D4 | c.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=) | |
13 | g.75310087C>G | CA484056426 | TBC1D4 | c.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=) | |
13 | g.75310087C>T | CA7003695 | TBC1D4 | c.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 |
13 | g.75310088G>A | CA7003696 | TBC1D4 | c.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 |
13 | g.75310088G>C | CA388272866 | TBC1D4 | c.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 |
13 | g.75310088G= | CA2102689375 | TBC1D4 | c.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=) | |
13 | g.75310088G>T | CA388272868 | TBC1D4 | c.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 |
13 | g.75310089G>A | CA388272870 | TBC1D4 | c.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 |
13 | g.75310089G>C | CA388272873 | TBC1D4 | c.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 |
13 | g.75310089G= | CA2102689380 | TBC1D4 | c.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=) | |
13 | g.75310089G>T | CA388272875 | TBC1D4 | c.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) | |
13 | g.75310090T>A | CA388272877 | TBC1D4 | c.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) | |
13 | g.75310090T>C | CA484056427 | TBC1D4 | c.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 |
13 | g.75310090T>G | CA388272879 | TBC1D4 | c.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 |
13 | g.75310090T= | CA2102689383 | TBC1D4 | c.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=) | |
13 | g.75310091T>A | CA388272885 | TBC1D4 | c.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) | |
13 | g.75310091T>C | CA388272886 | TBC1D4 | c.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) | |
13 | g.75310091T>G | CA388272883 | TBC1D4 | c.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) | |
13 | g.75310092C>A | CA388272887 | TBC1D4 | c.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) | |
13 | g.75310092C>G | CA388272889 | TBC1D4 | c.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) | |
13 | g.75310092C>T | CA388272891 | TBC1D4 | c.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) | |
13 | g.75310093C>A | CA388272894 | TBC1D4 | c.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) | |
13 | g.75310093C>G | CA388272896 | TBC1D4 | c.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) | |
13 | g.75310093C>T | CA484056428 | TBC1D4 | c.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=) | |
13 | g.75310094T>A | CA388272899 | TBC1D4 | c.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) |