Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132908178G>ACA2688648730TGc.3848-8G>A (n.3848-8G>A)
c.503-8G>A
c.3587-8G>A (n.3587-8G>A)
gnomAD v4
8g.132908178G>CCA2688648731TGc.3848-8G>C (n.3848-8G>C)
c.503-8G>C
c.3587-8G>C (n.3587-8G>C)
gnomAD v4
8g.132908178G=CA1821000191TGc.3848-8G= (n.3848-8G=)
c.503-8G=
c.3587-8G= (n.3587-8G=)
8g.132908178G>TCA4883924TGc.3848-8G>T (n.3848-8G>T)
c.503-8G>T
c.3587-8G>T (n.3587-8G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908179C=CA1821000192TGc.3848-7C= (n.3848-7C=)
c.503-7C=
c.3587-7C= (n.3587-7C=)
8g.132908179C>GCA4883925TGc.3848-7C>G (n.3848-7C>G)
c.503-7C>G
c.3587-7C>G (n.3587-7C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908180C>TCA2739269000TGc.3848-6C>T (n.3848-6C>T)
c.503-6C>T
c.3587-6C>T (n.3587-6C>T)
ClinVar
8g.132908181T>CCA2782271889TGc.3848-5T>C (n.3848-5T>C)
c.503-5T>C
c.3587-5T>C (n.3587-5T>C)
8g.132908182G>ACA585277625TGc.3848-4G>A (n.3848-4G>A)
c.503-4G>A
c.3587-4G>A (n.3587-4G>A)
dbSNP gnomAD v2 gnomAD v4
8g.132908182G>CCA2688648735TGc.3848-4G>C (n.3848-4G>C)
c.503-4G>C
c.3587-4G>C (n.3587-4G>C)
gnomAD v4
8g.132908182G=CA1821000193TGc.3848-4G= (n.3848-4G=)
c.503-4G=
c.3587-4G= (n.3587-4G=)
8g.132908182G>TCA2688648736TGc.3848-4G>T (n.3848-4G>T)
c.503-4G>T
c.3587-4G>T (n.3587-4G>T)
gnomAD v4
8g.132908183C=CA1821000194TGc.3848-3C= (n.3848-3C=)
c.503-3C=
c.3587-3C= (n.3587-3C=)
8g.132908183C>TCA1821000195TGc.3848-3C>T (n.3848-3C>T)
c.503-3C>T
c.3587-3C>T (n.3587-3C>T)
dbSNP gnomAD v4
8g.132908184A>CCA372243748TGc.3848-2A>C (n.3848-2A>C)
c.503-2A>C
c.3587-2A>C (n.3587-2A>C)
8g.132908184A>GCA372243749TGc.3848-2A>G (n.3848-2A>G)
c.503-2A>G
c.3587-2A>G (n.3587-2A>G)
8g.132908184A>TCA372243750TGc.3848-2A>T (n.3848-2A>T)
c.503-2A>T
c.3587-2A>T (n.3587-2A>T)
8g.132908185G>ACA372243753TGc.3848-1G>A (n.3848-1G>A)
c.503-1G>A
c.3587-1G>A (n.3587-1G>A)
8g.132908185G>CCA372243754TGc.3848-1G>C (n.3848-1G>C)
c.503-1G>C
c.3587-1G>C (n.3587-1G>C)
8g.132908185G>TCA372243756TGc.3848-1G>T (n.3848-1G>T)
c.503-1G>T
c.3587-1G>T (n.3587-1G>T)
gnomAD v4
8g.132908186G>ACA372243758TGc.3848G>A (p.Arg1283Gln)
c.503G>A
c.3587G>A (p.Arg1196Gln)
COSMIC
8g.132908186G>CCA372243760TGc.3848G>C (p.Arg1283Pro)
c.503G>C
c.3587G>C (p.Arg1196Pro)
8g.132908186G=CA1821000196TGc.3848G= (p.Arg1283=)
c.503G=
c.3587G= (p.Arg1196=)
8g.132908186G>TCA372243762TGc.3848G>T (p.Arg1283Leu)
c.503G>T
c.3587G>T (p.Arg1196Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908187G>ACA463011499TGc.3849G>A (p.Arg1283=)
c.504G>A
c.3588G>A (p.Arg1196=)
8g.132908187G>CCA463011500TGc.3849G>C (p.Arg1283=)
c.504G>C
c.3588G>C (p.Arg1196=)
8g.132908187G=CA1821000197TGc.3849G= (p.Arg1283=)
c.504G=
c.3588G= (p.Arg1196=)
8g.132908187G>TCA4883926TGc.3849G>T (p.Arg1283=)
c.504G>T
c.3588G>T (p.Arg1196=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908188C>ACA4883927TGc.3850C>A (p.Pro1284Thr)
c.505C>A
c.3589C>A (p.Pro1197Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908188C=CA1821000198TGc.3850C= (p.Pro1284=)
c.505C=
c.3589C= (p.Pro1197=)
8g.132908188C>GCA372243764TGc.3850C>G (p.Pro1284Ala)
c.505C>G
c.3589C>G (p.Pro1197Ala)
8g.132908188C>TCA4883928TGc.3850C>T (p.Pro1284Ser)
c.505C>T
c.3589C>T (p.Pro1197Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908189C>ACA372243769TGc.3851C>A (p.Pro1284His)
c.506C>A
c.3590C>A (p.Pro1197His)
8g.132908189C>GCA372243767TGc.3851C>G (p.Pro1284Arg)
c.506C>G
c.3590C>G (p.Pro1197Arg)
8g.132908189C>TCA372243766TGc.3851C>T (p.Pro1284Leu)
c.506C>T
c.3590C>T (p.Pro1197Leu)
gnomAD v4
8g.132908190C>ACA463011513TGc.3852C>A (p.Pro1284=)
c.507C>A
c.3591C>A (p.Pro1197=)
8g.132908190C=CA1821000199TGc.3852C= (p.Pro1284=)
c.507C=
c.3591C= (p.Pro1197=)
8g.132908190C>GCA4883929TGc.3852C>G (p.Pro1284=)
c.507C>G
c.3591C>G (p.Pro1197=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908190C>TCA463011516TGc.3852C>T (p.Pro1284=)
c.507C>T
c.3591C>T (p.Pro1197=)
dbSNP gnomAD v2
8g.132908191C>ACA372243771TGc.3853C>A (p.Gln1285Lys)
c.508C>A
c.3592C>A (p.Gln1198Lys)
dbSNP gnomAD v3 gnomAD v4
8g.132908191C=CA1821000200TGc.3853C= (p.Gln1285=)
c.508C=
c.3592C= (p.Gln1198=)
8g.132908191C>GCA372243772TGc.3853C>G (p.Gln1285Glu)
c.508C>G
c.3592C>G (p.Gln1198Glu)
8g.132908191C>TCA372243774TGc.3853C>T (p.Gln1285Ter)
c.508C>T
c.3592C>T (p.Gln1198Ter)
8g.132908192A=CA1821000201TGc.3854A= (p.Gln1285=)
c.509A=
c.3593A= (p.Gln1198=)
8g.132908192A>CCA372243776TGc.3854A>C (p.Gln1285Pro)
c.509A>C
c.3593A>C (p.Gln1198Pro)
gnomAD v4
8g.132908192A>GCA372243778TGc.3854A>G (p.Gln1285Arg)
c.509A>G
c.3593A>G (p.Gln1198Arg)
dbSNP gnomAD v3 gnomAD v4
8g.132908192A>TCA372243779TGc.3854A>T (p.Gln1285Leu)
c.509A>T
c.3593A>T (p.Gln1198Leu)
8g.132908193G>ACA463011526TGc.3855G>A (p.Gln1285=)
c.510G>A
c.3594G>A (p.Gln1198=)
COSMIC
8g.132908193G>CCA372243780TGc.3855G>C (p.Gln1285His)
c.510G>C
c.3594G>C (p.Gln1198His)
8g.132908193G=CA1821000202TGc.3855G= (p.Gln1285=)
c.510G=
c.3594G= (p.Gln1198=)
8g.132908193G>TCA372243783TGc.3855G>T (p.Gln1285His)
c.510G>T
c.3594G>T (p.Gln1198His)
dbSNP gnomAD v3 gnomAD v4
8g.132908194C>ACA16618602TGc.3856C>A (p.Leu1286Met)
c.511C>A
c.3595C>A (p.Leu1199Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908194C=CA1821000203TGc.3856C= (p.Leu1286=)
c.511C=
c.3595C= (p.Leu1199=)
8g.132908194C>GCA372243785TGc.3856C>G (p.Leu1286Val)
c.511C>G
c.3595C>G (p.Leu1199Val)
gnomAD v4
8g.132908194C>TCA463011532TGc.3856C>T (p.Leu1286=)
c.511C>T
c.3595C>T (p.Leu1199=)
8g.132908195T>ACA372243787TGc.3857T>A (p.Leu1286Gln)
c.512T>A
c.3596T>A (p.Leu1199Gln)
8g.132908195T>CCA372243789TGc.3857T>C (p.Leu1286Pro)
c.512T>C
c.3596T>C (p.Leu1199Pro)
8g.132908195T>GCA372243791TGc.3857T>G (p.Leu1286Arg)
c.512T>G
c.3596T>G (p.Leu1199Arg)
8g.132908196G>ACA463011539TGc.3858G>A (p.Leu1286=)
c.513G>A
c.3597G>A (p.Leu1199=)
gnomAD v4
8g.132908196G>CCA463011540TGc.3858G>C (p.Leu1286=)
c.513G>C
c.3597G>C (p.Leu1199=)
8g.132908196G>TCA463011542TGc.3858G>T (p.Leu1286=)
c.513G>T
c.3597G>T (p.Leu1199=)
8g.132908197T>ACA372243795TGc.3859T>A (p.Trp1287Arg)
c.514T>A
c.3598T>A (p.Trp1200Arg)
8g.132908197T>CCA372243797TGc.3859T>C (p.Trp1287Arg)
c.514T>C
c.3598T>C (p.Trp1200Arg)
8g.132908197T>GCA372243793TGc.3859T>G (p.Trp1287Gly)
c.514T>G
c.3598T>G (p.Trp1200Gly)
8g.132908198G>ACA372243798TGc.3860G>A (p.Trp1287Ter)
c.515G>A
c.3599G>A (p.Trp1200Ter)
8g.132908198G>CCA372243799TGc.3860G>C (p.Trp1287Ser)
c.515G>C
c.3599G>C (p.Trp1200Ser)
8g.132908198G>TCA372243800TGc.3860G>T (p.Trp1287Leu)
c.515G>T
c.3599G>T (p.Trp1200Leu)
gnomAD v4
8g.132908199G>ACA372243801TGc.3861G>A (p.Trp1287Ter)
c.516G>A
c.3600G>A (p.Trp1200Ter)
gnomAD v4
8g.132908199G>CCA372243802TGc.3861G>C (p.Trp1287Cys)
c.516G>C
c.3600G>C (p.Trp1200Cys)
8g.132908199G>TCA372243803TGc.3861G>T (p.Trp1287Cys)
c.516G>T
c.3600G>T (p.Trp1200Cys)
gnomAD v4
8g.132908200C>ACA372243806TGc.3862C>A (p.Gln1288Lys)
c.517C>A
c.3601C>A (p.Gln1201Lys)
dbSNP
8g.132908200C=CA1821000204TGc.3862C= (p.Gln1288=)
c.517C=
c.3601C= (p.Gln1201=)
8g.132908200C>GCA372243804TGc.3862C>G (p.Gln1288Glu)
c.517C>G
c.3601C>G (p.Gln1201Glu)
8g.132908200C>TCA372243805TGc.3862C>T (p.Gln1288Ter)
c.517C>T
c.3601C>T (p.Gln1201Ter)
8g.132908201A>CCA372243807TGc.3863A>C (p.Gln1288Pro)
c.518A>C
c.3602A>C (p.Gln1201Pro)
8g.132908201A>GCA372243808TGc.3863A>G (p.Gln1288Arg)
c.518A>G
c.3602A>G (p.Gln1201Arg)
gnomAD v4
8g.132908201A>TCA372243809TGc.3863A>T (p.Gln1288Leu)
c.518A>T
c.3602A>T (p.Gln1201Leu)
8g.132908202G>ACA463011564TGc.3864G>A (p.Gln1288=)
c.519G>A
c.3603G>A (p.Gln1201=)
8g.132908202G>CCA372243810TGc.3864G>C (p.Gln1288His)
c.519G>C
c.3603G>C (p.Gln1201His)
8g.132908202G>TCA372243811TGc.3864G>T (p.Gln1288His)
c.519G>T
c.3603G>T (p.Gln1201His)
gnomAD v4
8g.132908203A=CA1821000205TGc.3865A= (p.Thr1289=)
c.520A=
c.3604A= (p.Thr1202=)
8g.132908203A>CCA372243812TGc.3865A>C (p.Thr1289Pro)
c.520A>C
c.3604A>C (p.Thr1202Pro)
8g.132908203A>GCA372243814TGc.3865A>G (p.Thr1289Ala)
c.520A>G
c.3604A>G (p.Thr1202Ala)
dbSNP gnomAD v4
8g.132908203A>TCA372243813TGc.3865A>T (p.Thr1289Ser)
c.520A>T
c.3604A>T (p.Thr1202Ser)
8g.132908204C>ACA372243815TGc.3866C>A (p.Thr1289Asn)
c.521C>A
c.3605C>A (p.Thr1202Asn)
8g.132908204C=CA1821000206TGc.3866C= (p.Thr1289=)
c.521C=
c.3605C= (p.Thr1202=)
8g.132908204C>GCA372243816TGc.3866C>G (p.Thr1289Ser)
c.521C>G
c.3605C>G (p.Thr1202Ser)
dbSNP gnomAD v3 gnomAD v4
8g.132908204C>TCA372243817TGc.3866C>T (p.Thr1289Ile)
c.521C>T
c.3605C>T (p.Thr1202Ile)
dbSNP gnomAD v2
8g.132908205C>ACA463011568TGc.3867C>A (p.Thr1289=)
c.522C>A
c.3606C>A (p.Thr1202=)
8g.132908205C=CA1821000207TGc.3867C= (p.Thr1289=)
c.522C=
c.3606C= (p.Thr1202=)
8g.132908205C>GCA463011569TGc.3867C>G (p.Thr1289=)
c.522C>G
c.3606C>G (p.Thr1202=)
8g.132908205C>TCA4883930TGc.3867C>T (p.Thr1289=)
c.522C>T
c.3606C>T (p.Thr1202=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908206A>CCA372243818TGc.3868A>C (p.Ile1290Leu)
c.523A>C
c.3607A>C (p.Ile1203Leu)
8g.132908206A>GCA372243819TGc.3868A>G (p.Ile1290Val)
c.523A>G
c.3607A>G (p.Ile1203Val)
gnomAD v4
8g.132908206A>TCA372243820TGc.3868A>T (p.Ile1290Phe)
c.523A>T
c.3607A>T (p.Ile1203Phe)
8g.132908207T>ACA372243821TGc.3869T>A (p.Ile1290Asn)
c.524T>A
c.3608T>A (p.Ile1203Asn)
gnomAD v4
8g.132908207T>CCA372243822TGc.3869T>C (p.Ile1290Thr)
c.524T>C
c.3608T>C (p.Ile1203Thr)
8g.132908207T>GCA372243823TGc.3869T>G (p.Ile1290Ser)
c.524T>G
c.3608T>G (p.Ile1203Ser)
8g.132908208C>ACA463011570TGc.3870C>A (p.Ile1290=)
c.525C>A
c.3609C>A (p.Ile1203=)
ClinVar
8g.132908208C>GCA372243824TGc.3870C>G (p.Ile1290Met)
c.525C>G
c.3609C>G (p.Ile1203Met)
dbSNP
8g.132908208C>TCA463011571TGc.3870C>T (p.Ile1290=)
c.525C>T
c.3609C>T (p.Ile1203=)
8g.132908209C>ACA372243827TGc.3871C>A (p.Gln1291Lys)
c.526C>A
c.3610C>A (p.Gln1204Lys)
8g.132908209C=CA1821000208TGc.3871C= (p.Gln1291=)
c.526C=
c.3610C= (p.Gln1204=)
8g.132908209C>GCA372243825TGc.3871C>G (p.Gln1291Glu)
c.526C>G
c.3610C>G (p.Gln1204Glu)
8g.132908209C>TCA372243826TGc.3871C>T (p.Gln1291Ter)
c.526C>T
c.3610C>T (p.Gln1204Ter)
dbSNP gnomAD v2 gnomAD v4
8g.132908210A=CA1821000209TGc.3872A= (p.Gln1291=)
c.527A=
c.3611A= (p.Gln1204=)
8g.132908210A>CCA372243828TGc.3872A>C (p.Gln1291Pro)
c.527A>C
c.3611A>C (p.Gln1204Pro)
8g.132908210A>GCA372243829TGc.3872A>G (p.Gln1291Arg)
c.527A>G
c.3611A>G (p.Gln1204Arg)
dbSNP gnomAD v3 gnomAD v4
8g.132908210A>TCA372243830TGc.3872A>T (p.Gln1291Leu)
c.527A>T
c.3611A>T (p.Gln1204Leu)
8g.132908211G>ACA463011572TGc.3873G>A (p.Gln1291=)
c.528G>A
c.3612G>A (p.Gln1204=)
8g.132908211G>CCA372243831TGc.3873G>C (p.Gln1291His)
c.528G>C
c.3612G>C (p.Gln1204His)
8g.132908211G=CA1821000211TGc.3873G= (p.Gln1291=)
c.528G=
c.3612G= (p.Gln1204=)
8g.132908211G>TCA186300706TGc.3873G>T (p.Gln1291His)
c.528G>T
c.3612G>T (p.Gln1204His)
dbSNP
8g.132908212A=CA1821000213TGc.3874A= (p.Thr1292=)
c.529A=
c.3613A= (p.Thr1205=)
8g.132908212A>CCA372243832TGc.3874A>C (p.Thr1292Pro)
c.529A>C
c.3613A>C (p.Thr1205Pro)
8g.132908212A>GCA372243833TGc.3874A>G (p.Thr1292Ala)
c.529A>G
c.3613A>G (p.Thr1205Ala)
dbSNP
8g.132908212A>TCA372243834TGc.3874A>T (p.Thr1292Ser)
c.529A>T
c.3613A>T (p.Thr1205Ser)
8g.132908213C>ACA372243835TGc.3875C>A (p.Thr1292Asn)
c.530C>A
c.3614C>A (p.Thr1205Asn)
dbSNP gnomAD v2
8g.132908213C=CA1821000214TGc.3875C= (p.Thr1292=)
c.530C=
c.3614C= (p.Thr1205=)
8g.132908213C>GCA372243837TGc.3875C>G (p.Thr1292Ser)
c.530C>G
c.3614C>G (p.Thr1205Ser)
8g.132908213C>TCA372243836TGc.3875C>T (p.Thr1292Ile)
c.530C>T
c.3614C>T (p.Thr1205Ile)
8g.132908214C>ACA463011573TGc.3876C>A (p.Thr1292=)
c.531C>A
c.3615C>A (p.Thr1205=)
gnomAD v4
8g.132908214C=CA1821000216TGc.3876C= (p.Thr1292=)
c.531C=
c.3615C= (p.Thr1205=)
8g.132908214C>GCA463011574TGc.3876C>G (p.Thr1292=)
c.531C>G
c.3615C>G (p.Thr1205=)
8g.132908214C>TCA4883931TGc.3876C>T (p.Thr1292=)
c.531C>T
c.3615C>T (p.Thr1205=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.132908215C>ACA372243838TGc.3877C>A (p.Gln1293Lys)
c.532C>A
c.3616C>A (p.Gln1206Lys)
8g.132908215C>GCA372243839TGc.3877C>G (p.Gln1293Glu)
c.532C>G
c.3616C>G (p.Gln1206Glu)
8g.132908215C>TCA372243840TGc.3877C>T (p.Gln1293Ter)
c.532C>T
c.3616C>T (p.Gln1206Ter)
8g.132908216A=CA1821000219TGc.3878A= (p.Gln1293=)
c.533A=
c.3617A= (p.Gln1206=)
8g.132908216A>CCA372243841TGc.3878A>C (p.Gln1293Pro)
c.533A>C
c.3617A>C (p.Gln1206Pro)
dbSNP gnomAD v2 gnomAD v4
8g.132908216A>GCA372243843TGc.3878A>G (p.Gln1293Arg)
c.533A>G
c.3617A>G (p.Gln1206Arg)
8g.132908216A>TCA372243842TGc.3878A>T (p.Gln1293Leu)
c.533A>T
c.3617A>T (p.Gln1206Leu)
8g.132908217A=CA1821000220TGc.3879A= (p.Gln1293=)
c.534A=
c.3618A= (p.Gln1206=)
8g.132908217A>CCA372243844TGc.3879A>C (p.Gln1293His)
c.534A>C
c.3618A>C (p.Gln1206His)
8g.132908217A>GCA463011575TGc.3879A>G (p.Gln1293=)
c.534A>G
c.3618A>G (p.Gln1206=)
ClinVar
8g.132908217A>TCA186300718TGc.3879A>T (p.Gln1293His)
c.534A>T
c.3618A>T (p.Gln1206His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908218G>ACA372243845TGc.3880G>A (p.Gly1294Arg)
c.535G>A
c.3619G>A (p.Gly1207Arg)
gnomAD v4
8g.132908218G>CCA372243846TGc.3880G>C (p.Gly1294Arg)
c.535G>C
c.3619G>C (p.Gly1207Arg)
8g.132908218G>TCA372243847TGc.3880G>T (p.Gly1294Trp)
c.535G>T
c.3619G>T (p.Gly1207Trp)
8g.132908219G>ACA372243848TGc.3881G>A (p.Gly1294Glu)
c.536G>A
c.3620G>A (p.Gly1207Glu)
8g.132908219G>CCA372243849TGc.3881G>C (p.Gly1294Ala)
c.536G>C
c.3620G>C (p.Gly1207Ala)
8g.132908219G=CA1821000221TGc.3881G= (p.Gly1294=)
c.536G=
c.3620G= (p.Gly1207=)
8g.132908219G>TCA4883932TGc.3881G>T (p.Gly1294Val)
c.536G>T
c.3620G>T (p.Gly1207Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908220G>ACA463011578TGc.3882G>A (p.Gly1294=)
c.537G>A
c.3621G>A (p.Gly1207=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908220G>CCA463011577TGc.3882G>C (p.Gly1294=)
c.537G>C
c.3621G>C (p.Gly1207=)
8g.132908220G=CA1821000223TGc.3882G= (p.Gly1294=)
c.537G=
c.3621G= (p.Gly1207=)
8g.132908220G>TCA463011576TGc.3882G>T (p.Gly1294=)
c.537G>T
c.3621G>T (p.Gly1207=)
8g.132908221C>ACA372243850TGc.3883C>A (p.His1295Asn)
c.538C>A
c.3622C>A (p.His1208Asn)
8g.132908221C=CA1821000225TGc.3883C= (p.His1295=)
c.538C=
c.3622C= (p.His1208=)
8g.132908221C>GCA372243851TGc.3883C>G (p.His1295Asp)
c.538C>G
c.3622C>G (p.His1208Asp)
8g.132908221C>TCA4883933TGc.3883C>T (p.His1295Tyr)
c.538C>T
c.3622C>T (p.His1208Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908222A=CA1821000228TGc.3884A= (p.His1295=)
c.539A=
c.3623A= (p.His1208=)
8g.132908222A>CCA372243853TGc.3884A>C (p.His1295Pro)
c.539A>C
c.3623A>C (p.His1208Pro)
8g.132908222A>GCA4883934TGc.3884A>G (p.His1295Arg)
c.539A>G
c.3623A>G (p.His1208Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908222A>TCA372243852TGc.3884A>T (p.His1295Leu)
c.539A>T
c.3623A>T (p.His1208Leu)
8g.132908223C>ACA372243854TGc.3885C>A (p.His1295Gln)
c.540C>A
c.3624C>A (p.His1208Gln)
8g.132908223C=CA1821000230TGc.3885C= (p.His1295=)
c.540C=
c.3624C= (p.His1208=)
8g.132908223C>GCA4883935TGc.3885C>G (p.His1295Gln)
c.540C>G
c.3624C>G (p.His1208Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908223C>TCA463011579TGc.3885C>T (p.His1295=)
c.540C>T
c.3624C>T (p.His1208=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908224T>ACA174439TGc.3886T>A (p.Phe1296Ile)
c.541T>A
c.3625T>A (p.Phe1209Ile)
ClinVar dbSNP COSMIC
8g.132908224T>CCA372243855TGc.3886T>C (p.Phe1296Leu)
c.541T>C
c.3625T>C (p.Phe1209Leu)
8g.132908224T>GCA372243856TGc.3886T>G (p.Phe1296Val)
c.541T>G
c.3625T>G (p.Phe1209Val)
8g.132908224T=CA1821000232TGc.3886T= (p.Phe1296=)
c.541T=
c.3625T= (p.Phe1209=)
8g.132908225T>ACA372243857TGc.3887T>A (p.Phe1296Tyr)
c.542T>A
c.3626T>A (p.Phe1209Tyr)
8g.132908225T>CCA372243858TGc.3887T>C (p.Phe1296Ser)
c.542T>C
c.3626T>C (p.Phe1209Ser)
dbSNP
8g.132908225T>GCA372243859TGc.3887T>G (p.Phe1296Cys)
c.542T>G
c.3626T>G (p.Phe1209Cys)
8g.132908225T=CA1821000233TGc.3887T= (p.Phe1296=)
c.542T=
c.3626T= (p.Phe1209=)
8g.132908226T>ACA372243860TGc.3888T>A (p.Phe1296Leu)
c.543T>A
c.3627T>A (p.Phe1209Leu)
8g.132908226T>CCA463011580TGc.3888T>C (p.Phe1296=)
c.543T>C
c.3627T>C (p.Phe1209=)
8g.132908226T>GCA372243861TGc.3888T>G (p.Phe1296Leu)
c.543T>G
c.3627T>G (p.Phe1209Leu)
8g.132908227C>ACA372243862TGc.3889C>A (p.Gln1297Lys)
c.544C>A
c.3628C>A (p.Gln1210Lys)
8g.132908227C=CA1821000236TGc.3889C= (p.Gln1297=)
c.544C=
c.3628C= (p.Gln1210=)
8g.132908227C>GCA372243863TGc.3889C>G (p.Gln1297Glu)
c.544C>G
c.3628C>G (p.Gln1210Glu)
gnomAD v4
8g.132908227C>TCA4883936TGc.3889C>T (p.Gln1297Ter)
c.544C>T
c.3628C>T (p.Gln1210Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908228A>CCA372243866TGc.3890A>C (p.Gln1297Pro)
c.545A>C
c.3629A>C (p.Gln1210Pro)
8g.132908228A>GCA372243864TGc.3890A>G (p.Gln1297Arg)
c.545A>G
c.3629A>G (p.Gln1210Arg)
gnomAD v4
8g.132908228A>TCA372243865TGc.3890A>T (p.Gln1297Leu)
c.545A>T
c.3629A>T (p.Gln1210Leu)
8g.132908229G>ACA463011581TGc.3891G>A (p.Gln1297=)
c.546G>A
c.3630G>A (p.Gln1210=)
8g.132908229G>CCA372243867TGc.3891G>C (p.Gln1297His)
c.546G>C
c.3630G>C (p.Gln1210His)
gnomAD v4
8g.132908229G>TCA372243868TGc.3891G>T (p.Gln1297His)
c.546G>T
c.3630G>T (p.Gln1210His)
8g.132908230C>ACA372243869TGc.3892C>A (p.Leu1298Ile)
c.547C>A
c.3631C>A (p.Leu1211Ile)
8g.132908230C>GCA372243870TGc.3892C>G (p.Leu1298Val)
c.547C>G
c.3631C>G (p.Leu1211Val)
8g.132908230C>TCA372243871TGc.3892C>T (p.Leu1298Phe)
c.547C>T
c.3631C>T (p.Leu1211Phe)
8g.132908231T>ACA372243872TGc.3893T>A (p.Leu1298His)
c.548T>A
c.3632T>A (p.Leu1211His)
8g.132908231T>CCA372243873TGc.3893T>C (p.Leu1298Pro)
c.548T>C
c.3632T>C (p.Leu1211Pro)
dbSNP
8g.132908231T>GCA372243874TGc.3893T>G (p.Leu1298Arg)
c.548T>G
c.3632T>G (p.Leu1211Arg)
8g.132908231T=CA1821000239TGc.3893T= (p.Leu1298=)
c.548T=
c.3632T= (p.Leu1211=)
8g.132908232C>ACA463011582TGc.3894C>A (p.Leu1298=)
c.549C>A
c.3633C>A (p.Leu1211=)
ClinVar dbSNP gnomAD v4
8g.132908232C=CA1821000246TGc.3894C= (p.Leu1298=)
c.549C=
c.3633C= (p.Leu1211=)
8g.132908232C>GCA463011583TGc.3894C>G (p.Leu1298=)
c.549C>G
c.3633C>G (p.Leu1211=)
8g.132908232C>TCA4883937TGc.3894C>T (p.Leu1298=)
c.549C>T
c.3633C>T (p.Leu1211=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908233C>ACA372243875TGc.3895C>A (p.Gln1299Lys)
c.550C>A
c.3634C>A (p.Gln1212Lys)
8g.132908233C>GCA372243876TGc.3895C>G (p.Gln1299Glu)
c.550C>G
c.3634C>G (p.Gln1212Glu)
8g.132908233C>TCA372243877TGc.3895C>T (p.Gln1299Ter)
c.550C>T
c.3634C>T (p.Gln1212Ter)
gnomAD v4
8g.132908234A>CCA372243878TGc.3896A>C (p.Gln1299Pro)
c.551A>C
c.3635A>C (p.Gln1212Pro)
8g.132908234A>GCA372243880TGc.3896A>G (p.Gln1299Arg)
c.551A>G
c.3635A>G (p.Gln1212Arg)
gnomAD v4
8g.132908234A>TCA372243879TGc.3896A>T (p.Gln1299Leu)
c.551A>T
c.3635A>T (p.Gln1212Leu)
8g.132908235G>ACA463011584TGc.3897G>A (p.Gln1299=)
c.552G>A
c.3636G>A (p.Gln1212=)
8g.132908235G>CCA372243881TGc.3897G>C (p.Gln1299His)
c.552G>C
c.3636G>C (p.Gln1212His)
8g.132908235G>TCA372243882TGc.3897G>T (p.Gln1299His)
c.552G>T
c.3636G>T (p.Gln1212His)
8g.132908236C>ACA372243883TGc.3898C>A (p.Leu1300Ile)
c.553C>A
c.3637C>A (p.Leu1213Ile)
8g.132908236C>GCA372243884TGc.3898C>G (p.Leu1300Val)
c.553C>G
c.3637C>G (p.Leu1213Val)
8g.132908236C>TCA372243885TGc.3898C>T (p.Leu1300Phe)
c.553C>T
c.3637C>T (p.Leu1213Phe)
8g.132908237T>ACA372243888TGc.3899T>A (p.Leu1300His)
c.554T>A
c.3638T>A (p.Leu1213His)
8g.132908237T>CCA372243887TGc.3899T>C (p.Leu1300Pro)
c.554T>C
c.3638T>C (p.Leu1213Pro)
8g.132908237T>GCA372243886TGc.3899T>G (p.Leu1300Arg)
c.554T>G
c.3638T>G (p.Leu1213Arg)
8g.132908238C>ACA463011585TGc.3900C>A (p.Leu1300=)
c.555C>A
c.3639C>A (p.Leu1213=)
8g.132908238C>GCA463011586TGc.3900C>G (p.Leu1300=)
c.555C>G
c.3639C>G (p.Leu1213=)
8g.132908238C>TCA463011587TGc.3900C>T (p.Leu1300=)
c.555C>T
c.3639C>T (p.Leu1213=)
8g.132908239C>ACA4883938TGc.3901C>A (p.Pro1301Thr)
c.556C>A
c.3640C>A (p.Pro1214Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908239C=CA1821000251TGc.3901C= (p.Pro1301=)
c.556C=
c.3640C= (p.Pro1214=)
8g.132908239C>GCA372243889TGc.3901C>G (p.Pro1301Ala)
c.556C>G
c.3640C>G (p.Pro1214Ala)
8g.132908239C>TCA372243890TGc.3901C>T (p.Pro1301Ser)
c.556C>T
c.3640C>T (p.Pro1214Ser)
8g.132908242_132908244dupCA2688648742TGc.3904_3906dup (p.Pro1302_Gly1303insPro)
c.559_561dup
c.3643_3645dup (p.Pro1215_Gly1216insPro)
gnomAD v4
8g.132908240C>ACA372243891TGc.3902C>A (p.Pro1301Gln)
c.557C>A
c.3641C>A (p.Pro1214Gln)
8g.132908240C=CA1821000255TGc.3902C= (p.Pro1301=)
c.557C=
c.3641C= (p.Pro1214=)
8g.132908240C>GCA372243892TGc.3902C>G (p.Pro1301Arg)
c.557C>G
c.3641C>G (p.Pro1214Arg)
8g.132908240C>TCA4883939TGc.3902C>T (p.Pro1301Leu)
c.557C>T
c.3641C>T (p.Pro1214Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908241delCA585277568TGc.3903del (p.Pro1302ArgfsTer24)
c.558del
c.3642del (p.Pro1215ArgfsTer24)
gnomAD v2
8g.132908241G>ACA463011588TGc.3903G>A (p.Pro1301=)
c.558G>A
c.3642G>A (p.Pro1214=)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132908241G>CCA463011590TGc.3903G>C (p.Pro1301=)
c.558G>C
c.3642G>C (p.Pro1214=)
8g.132908241G=CA1821000261TGc.3903G= (p.Pro1301=)
c.558G=
c.3642G= (p.Pro1214=)
8g.132908241G>TCA463011589TGc.3903G>T (p.Pro1301=)
c.558G>T
c.3642G>T (p.Pro1214=)
ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132908242C>ACA372243895TGc.3904C>A (p.Pro1302Thr)
c.559C>A
c.3643C>A (p.Pro1215Thr)
8g.132908242C>GCA372243893TGc.3904C>G (p.Pro1302Ala)
c.559C>G
c.3643C>G (p.Pro1215Ala)
8g.132908242C>TCA372243894TGc.3904C>T (p.Pro1302Ser)
c.559C>T
c.3643C>T (p.Pro1215Ser)
gnomAD v4
8g.132908243C>ACA372243896TGc.3905C>A (p.Pro1302Gln)
c.560C>A
c.3644C>A (p.Pro1215Gln)
8g.132908243C=CA1821000265TGc.3905C= (p.Pro1302=)
c.560C=
c.3644C= (p.Pro1215=)
8g.132908243C>GCA372243897TGc.3905C>G (p.Pro1302Arg)
c.560C>G
c.3644C>G (p.Pro1215Arg)
8g.132908243C>TCA4883940TGc.3905C>T (p.Pro1302Leu)
c.560C>T
c.3644C>T (p.Pro1215Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908244G>ACA4883941TGc.3906G>A (p.Pro1302=)
c.561G>A
c.3645G>A (p.Pro1215=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908244G>CCA463011591TGc.3906G>C (p.Pro1302=)
c.561G>C
c.3645G>C (p.Pro1215=)
8g.132908244G=CA1821000269TGc.3906G= (p.Pro1302=)
c.561G=
c.3645G= (p.Pro1215=)
8g.132908244G>TCA463011592TGc.3906G>T (p.Pro1302=)
c.561G>T
c.3645G>T (p.Pro1215=)
8g.132908245G>ACA372243898TGc.3907G>A (p.Gly1303Ser)
c.562G>A
c.3646G>A (p.Gly1216Ser)
dbSNP gnomAD v3 gnomAD v4
8g.132908245G>CCA372243899TGc.3907G>C (p.Gly1303Arg)
c.562G>C
c.3646G>C (p.Gly1216Arg)
8g.132908245G=CA1821000273TGc.3907G= (p.Gly1303=)
c.562G=
c.3646G= (p.Gly1216=)
8g.132908245G>TCA372243900TGc.3907G>T (p.Gly1303Cys)
c.562G>T
c.3646G>T (p.Gly1216Cys)
8g.132908246G>ACA4883942TGc.3908G>A (p.Gly1303Asp)
c.563G>A
c.3647G>A (p.Gly1216Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908246G>CCA372243901TGc.3908G>C (p.Gly1303Ala)
c.563G>C
c.3647G>C (p.Gly1216Ala)
8g.132908246G=CA1821000275TGc.3908G= (p.Gly1303=)
c.563G=
c.3647G= (p.Gly1216=)
8g.132908246G>TCA372243902TGc.3908G>T (p.Gly1303Val)
c.563G>T
c.3647G>T (p.Gly1216Val)
8g.132908247C>ACA463011593TGc.3909C>A (p.Gly1303=)
c.564C>A
c.3648C>A (p.Gly1216=)
8g.132908247C>GCA463011594TGc.3909C>G (p.Gly1303=)
c.564C>G
c.3648C>G (p.Gly1216=)
8g.132908247C>TCA463011595TGc.3909C>T (p.Gly1303=)
c.564C>T
c.3648C>T (p.Gly1216=)
8g.132908248A=CA1821000277TGc.3910A= (p.Lys1304=)
c.565A=
c.3649A= (p.Lys1217=)
8g.132908248A>CCA372243903TGc.3910A>C (p.Lys1304Gln)
c.565A>C
c.3649A>C (p.Lys1217Gln)
dbSNP
8g.132908248A>GCA372243904TGc.3910A>G (p.Lys1304Glu)
c.565A>G
c.3649A>G (p.Lys1217Glu)
COSMIC
8g.132908248A>TCA372243905TGc.3910A>T (p.Lys1304Ter)
c.565A>T
c.3649A>T (p.Lys1217Ter)
8g.132908249A=CA1821000280TGc.3911A= (p.Lys1304=)
c.566A=
c.3650A= (p.Lys1217=)
8g.132908249A>CCA372243908TGc.3911A>C (p.Lys1304Thr)
c.566A>C
c.3650A>C (p.Lys1217Thr)
gnomAD v4
8g.132908249A>GCA372243906TGc.3911A>G (p.Lys1304Arg)
c.566A>G
c.3650A>G (p.Lys1217Arg)
dbSNP gnomAD v4
8g.132908249A>TCA372243907TGc.3911A>T (p.Lys1304Met)
c.566A>T
c.3650A>T (p.Lys1217Met)
8g.132908250G>ACA10627123TGc.3912G>A (p.Lys1304=)
c.567G>A
c.3651G>A (p.Lys1217=)
ClinVar dbSNP gnomAD v4
8g.132908250G>CCA372243909TGc.3912G>C (p.Lys1304Asn)
c.567G>C
c.3651G>C (p.Lys1217Asn)
8g.132908250G=CA1821000286TGc.3912G= (p.Lys1304=)
c.567G=
c.3651G= (p.Lys1217=)
8g.132908250G>TCA372243910TGc.3912G>T (p.Lys1304Asn)
c.567G>T
c.3651G>T (p.Lys1217Asn)
8g.132908251A=CA1821000291TGc.3913A= (p.Met1305=)
c.568A=
c.3652A= (p.Met1218=)
8g.132908251A>CCA372243911TGc.3913A>C (p.Met1305Leu)
c.568A>C
c.3652A>C (p.Met1218Leu)
8g.132908251A>GCA372243912TGc.3913A>G (p.Met1305Val)
c.568A>G
c.3652A>G (p.Met1218Val)
dbSNP
8g.132908251A>TCA372243914TGc.3913A>T (p.Met1305Leu)
c.568A>T
c.3652A>T (p.Met1218Leu)
8g.132908252T>ACA372243916TGc.3914T>A (p.Met1305Lys)
c.569T>A
c.3653T>A (p.Met1218Lys)
gnomAD v4
8g.132908252T>CCA372243917TGc.3914T>C (p.Met1305Thr)
c.569T>C
c.3653T>C (p.Met1218Thr)
8g.132908252T>GCA372243919TGc.3914T>G (p.Met1305Arg)
c.569T>G
c.3653T>G (p.Met1218Arg)
8g.132908253G>ACA372243920TGc.3915G>A (p.Met1305Ile)
c.570G>A
c.3654G>A (p.Met1218Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908253G>CCA372243921TGc.3915G>C (p.Met1305Ile)
c.570G>C
c.3654G>C (p.Met1218Ile)
8g.132908253G=CA1821000295TGc.3915G= (p.Met1305=)
c.570G=
c.3654G= (p.Met1218=)
8g.132908253G>TCA372243923TGc.3915G>T (p.Met1305Ile)
c.570G>T
c.3654G>T (p.Met1218Ile)
8g.132908254T>ACA372243927TGc.3916T>A (p.Cys1306Ser)
c.571T>A
c.3655T>A (p.Cys1219Ser)
8g.132908254T>CCA372243925TGc.3916T>C (p.Cys1306Arg)
c.571T>C
c.3655T>C (p.Cys1219Arg)
8g.132908254T>GCA372243924TGc.3916T>G (p.Cys1306Gly)
c.571T>G
c.3655T>G (p.Cys1219Gly)
dbSNP gnomAD v3 gnomAD v4
8g.132908254T=CA1821000299TGc.3916T= (p.Cys1306=)
c.571T=
c.3655T= (p.Cys1219=)
8g.132908255G>ACA372243929TGc.3917G>A (p.Cys1306Tyr)
c.572G>A
c.3656G>A (p.Cys1219Tyr)
gnomAD v4
8g.132908255G>CCA372243930TGc.3917G>C (p.Cys1306Ser)
c.572G>C
c.3656G>C (p.Cys1219Ser)
COSMIC
8g.132908255G>TCA372243931TGc.3917G>T (p.Cys1306Phe)
c.572G>T
c.3656G>T (p.Cys1219Phe)
8g.132908256C>ACA372243932TGc.3918C>A (p.Cys1306Ter)
c.573C>A
c.3657C>A (p.Cys1219Ter)
8g.132908256C>GCA372243933TGc.3918C>G (p.Cys1306Trp)
c.573C>G
c.3657C>G (p.Cys1219Trp)
8g.132908256C>TCA463011596TGc.3918C>T (p.Cys1306=)
c.573C>T
c.3657C>T (p.Cys1219=)
gnomAD v4
8g.132908257A=CA1821000304TGc.3919A= (p.Ser1307=)
c.574A=
c.3658A= (p.Ser1220=)
8g.132908257A>CCA4883943TGc.3919A>C (p.Ser1307Arg)
c.574A>C
c.3658A>C (p.Ser1220Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908257A>GCA372243934TGc.3919A>G (p.Ser1307Gly)
c.574A>G
c.3658A>G (p.Ser1220Gly)
dbSNP gnomAD v2 gnomAD v4
8g.132908257A>TCA372243936TGc.3919A>T (p.Ser1307Cys)
c.574A>T
c.3658A>T (p.Ser1220Cys)
8g.132908258G>ACA372243937TGc.3920G>A (p.Ser1307Asn)
c.575G>A
c.3659G>A (p.Ser1220Asn)
dbSNP gnomAD v4 COSMIC
8g.132908258G>CCA186300759TGc.3920G>C (p.Ser1307Thr)
c.575G>C
c.3659G>C (p.Ser1220Thr)
dbSNP
8g.132908258G=CA1821000307TGc.3920G= (p.Ser1307=)
c.575G=
c.3659G= (p.Ser1220=)
8g.132908258G>TCA372243938TGc.3920G>T (p.Ser1307Ile)
c.575G>T
c.3659G>T (p.Ser1220Ile)
dbSNP gnomAD v3 gnomAD v4
8g.132908259T>ACA372243939TGc.3921T>A (p.Ser1307Arg)
c.576T>A
c.3660T>A (p.Ser1220Arg)
8g.132908259T>CCA463011597TGc.3921T>C (p.Ser1307=)
c.576T>C
c.3660T>C (p.Ser1220=)
8g.132908259T>GCA372243940TGc.3921T>G (p.Ser1307Arg)
c.576T>G
c.3660T>G (p.Ser1220Arg)
8g.132908260G>ACA372243945TGc.3922G>A (p.Ala1308Thr)
c.577G>A
c.3661G>A (p.Ala1221Thr)
8g.132908260G>CCA372243947TGc.3922G>C (p.Ala1308Pro)
c.577G>C
c.3661G>C (p.Ala1221Pro)
dbSNP
8g.132908260G=CA1821000314TGc.3922G= (p.Ala1308=)
c.577G=
c.3661G= (p.Ala1221=)
8g.132908260G>TCA372243944TGc.3922G>T (p.Ala1308Ser)
c.577G>T
c.3661G>T (p.Ala1221Ser)
COSMIC
8g.132908261C>ACA372243949TGc.3923C>A (p.Ala1308Asp)
c.578C>A
c.3662C>A (p.Ala1221Asp)
8g.132908261C=CA1821000318TGc.3923C= (p.Ala1308=)
c.578C=
c.3662C= (p.Ala1221=)
8g.132908261C>GCA372243950TGc.3923C>G (p.Ala1308Gly)
c.578C>G
c.3662C>G (p.Ala1221Gly)
8g.132908261C>TCA4883944TGc.3923C>T (p.Ala1308Val)
c.578C>T
c.3662C>T (p.Ala1221Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908262T>ACA463011598TGc.3924T>A (p.Ala1308=)
c.579T>A
c.3663T>A (p.Ala1221=)
8g.132908262T>CCA463011599TGc.3924T>C (p.Ala1308=)
c.579T>C
c.3663T>C (p.Ala1221=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132908262T>GCA463011600TGc.3924T>G (p.Ala1308=)
c.579T>G
c.3663T>G (p.Ala1221=)
8g.132908262T=CA1821000319TGc.3924T= (p.Ala1308=)
c.579T=
c.3663T= (p.Ala1221=)
8g.132908263G>ACA372243951TGc.3925G>A (p.Asp1309Asn)
c.580G>A
c.3664G>A (p.Asp1222Asn)
gnomAD v4
8g.132908263G>CCA372243959TGc.3925G>C (p.Asp1309His)
c.580G>C
c.3664G>C (p.Asp1222His)
gnomAD v4
8g.132908263G>TCA372243962TGc.3925G>T (p.Asp1309Tyr)
c.580G>T
c.3664G>T (p.Asp1222Tyr)
8g.132908264A=CA1821000323TGc.3926A= (p.Asp1309=)
c.581A=
c.3665A= (p.Asp1222=)
8g.132908264A>CCA372243967TGc.3926A>C (p.Asp1309Ala)
c.581A>C
c.3665A>C (p.Asp1222Ala)
gnomAD v4
8g.132908264A>GCA372243969TGc.3926A>G (p.Asp1309Gly)
c.581A>G
c.3665A>G (p.Asp1222Gly)
8g.132908264A>TCA4883945TGc.3926A>T (p.Asp1309Val)
c.581A>T
c.3665A>T (p.Asp1222Val)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908265C>ACA372243973TGc.3927C>A (p.Asp1309Glu)
c.582C>A
c.3666C>A (p.Asp1222Glu)
8g.132908265C=CA1821000324TGc.3927C= (p.Asp1309=)
c.582C=
c.3666C= (p.Asp1222=)
8g.132908265C>GCA372243976TGc.3927C>G (p.Asp1309Glu)
c.582C>G
c.3666C>G (p.Asp1222Glu)
8g.132908265C>TCA463011601TGc.3927C>T (p.Asp1309=)
c.582C>T
c.3666C>T (p.Asp1222=)
dbSNP gnomAD v4
8g.132908266T>ACA372243979TGc.3928T>A (p.Tyr1310Asn)
c.583T>A
c.3667T>A (p.Tyr1223Asn)
dbSNP
8g.132908266T>CCA4883946TGc.3928T>C (p.Tyr1310His)
c.583T>C
c.3667T>C (p.Tyr1223His)
dbSNP ExAC gnomAD v3 gnomAD v4
8g.132908266T>GCA372243982TGc.3928T>G (p.Tyr1310Asp)
c.583T>G
c.3667T>G (p.Tyr1223Asp)
8g.132908266T=CA1821000325TGc.3928T= (p.Tyr1310=)
c.583T=
c.3667T= (p.Tyr1223=)
8g.132908267A=CA1821000326TGc.3929A= (p.Tyr1310=)
c.584A=
c.3668A= (p.Tyr1223=)
8g.132908267A>CCA372243989TGc.3929A>C (p.Tyr1310Ser)
c.584A>C
c.3668A>C (p.Tyr1223Ser)
8g.132908267A>GCA4883947TGc.3929A>G (p.Tyr1310Cys)
c.584A>G
c.3668A>G (p.Tyr1223Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908267A>TCA4883948TGc.3929A>T (p.Tyr1310Phe)
c.584A>T
c.3668A>T (p.Tyr1223Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908268C>ACA372243992TGc.3930C>A (p.Tyr1310Ter)
c.585C>A
c.3669C>A (p.Tyr1223Ter)
ClinVar gnomAD v4
8g.132908268C=CA1821000328TGc.3930C= (p.Tyr1310=)
c.585C=
c.3669C= (p.Tyr1223=)
8g.132908268C>GCA372243994TGc.3930C>G (p.Tyr1310Ter)
c.585C>G
c.3669C>G (p.Tyr1223Ter)
gnomAD v4
8g.132908268C>TCA4883949TGc.3930C>T (p.Tyr1310=)
c.585C>T
c.3669C>T (p.Tyr1223=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132908269G>ACA4883950TGc.3931G>A (p.Ala1311Thr)
c.586G>A
c.3670G>A (p.Ala1224Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908269G>CCA372243997TGc.3931G>C (p.Ala1311Pro)
c.586G>C
c.3670G>C (p.Ala1224Pro)
gnomAD v4
8g.132908269G=CA1821000329TGc.3931G= (p.Ala1311=)
c.586G=
c.3670G= (p.Ala1224=)
8g.132908269G>TCA372243998TGc.3931G>T (p.Ala1311Ser)
c.586G>T
c.3670G>T (p.Ala1224Ser)
8g.132908270C>ACA372243999TGc.3932C>A (p.Ala1311Glu)
c.587C>A
c.3671C>A (p.Ala1224Glu)
8g.132908270C=CA1821000330TGc.3932C= (p.Ala1311=)
c.587C=
c.3671C= (p.Ala1224=)
8g.132908270C>GCA372244000TGc.3932C>G (p.Ala1311Gly)
c.587C>G
c.3671C>G (p.Ala1224Gly)
8g.132908270C>TCA4883951TGc.3932C>T (p.Ala1311Val)
c.587C>T
c.3671C>T (p.Ala1224Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908271G>ACA4883952TGc.3933G>A (p.Ala1311=)
c.588G>A
c.3672G>A (p.Ala1224=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908271G>CCA463011602TGc.3933G>C (p.Ala1311=)
c.588G>C
c.3672G>C (p.Ala1224=)
dbSNP gnomAD v3 gnomAD v4
8g.132908271G=CA1821000335TGc.3933G= (p.Ala1311=)
c.588G=
c.3672G= (p.Ala1224=)
8g.132908271G>TCA463011603TGc.3933G>T (p.Ala1311=)
c.588G>T
c.3672G>T (p.Ala1224=)
8g.132908272G>ACA372244004TGc.3934G>A (p.Asp1312Asn)
c.589G>A
c.3673G>A (p.Asp1225Asn)
dbSNP
8g.132908272G>CCA372244006TGc.3934G>C (p.Asp1312His)
c.589G>C
c.3673G>C (p.Asp1225His)
8g.132908272G>TCA372244003TGc.3934G>T (p.Asp1312Tyr)
c.589G>T
c.3673G>T (p.Asp1225Tyr)
8g.132908273A=CA1821000345TGc.3935A= (p.Asp1312=)
c.590A=
c.3674A= (p.Asp1225=)
8g.132908273A>CCA372244008TGc.3935A>C (p.Asp1312Ala)
c.590A>C
c.3674A>C (p.Asp1225Ala)
8g.132908273A>GCA4883953TGc.3935A>G (p.Asp1312Gly)
c.590A>G
c.3674A>G (p.Asp1225Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132908273A>TCA372244012TGc.3935A>T (p.Asp1312Val)
c.590A>T
c.3674A>T (p.Asp1225Val)
gnomAD v4
8g.132908273_132908274insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGGCA2604872268TGc.3935_3936insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG (p.Asp1312GlufsTer31)
c.590_591insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG
c.3674_3675insGACTTTCCAGGAAACCCGCCGGGCAAGATGTGCAGTGCTGACTACGCGGG (p.Asp1225GlufsTer31)
gnomAD v3 gnomAD v4
8g.132908274T>ACA372244014TGc.3936T>A (p.Asp1312Glu)
c.591T>A
c.3675T>A (p.Asp1225Glu)
8g.132908274T>CCA463011604TGc.3936T>C (p.Asp1312=)
c.591T>C
c.3675T>C (p.Asp1225=)
8g.132908274T>GCA372244016TGc.3936T>G (p.Asp1312Glu)
c.591T>G
c.3675T>G (p.Asp1225Glu)
8g.132908275T>ACA372244019TGc.3937T>A (p.Leu1313Met)
c.592T>A
c.3676T>A (p.Leu1226Met)
8g.132908275T>CCA463011605TGc.3937T>C (p.Leu1313=)
c.592T>C
c.3676T>C (p.Leu1226=)
ClinVar dbSNP gnomAD v4
8g.132908275T>GCA372244021TGc.3937T>G (p.Leu1313Val)
c.592T>G
c.3676T>G (p.Leu1226Val)
8g.132908275T=CA1821000350TGc.3937T= (p.Leu1313=)
c.592T=
c.3676T= (p.Leu1226=)
8g.132908275_132908278delinsTTGCCA1821000349TGc.3937_3940delinsTTGC (p.Leu1313=)
c.592_595delinsTTGC
c.3676_3679delinsTTGC (p.Leu1226=)
8g.132908276T>ACA372244024TGc.3938T>A (p.Leu1313Ter)
c.593T>A
c.3677T>A (p.Leu1226Ter)
8g.132908276T>CCA372244027TGc.3938T>C (p.Leu1313Ser)
c.593T>C
c.3677T>C (p.Leu1226Ser)
8g.132908276T>GCA372244029TGc.3938T>G (p.Leu1313Trp)
c.593T>G
c.3677T>G (p.Leu1226Trp)
8g.132908279_132908281delCA585277574TGc.3941_3943del (p.Leu1314del)
c.596_598del
c.3680_3682del (p.Leu1227del)
dbSNP gnomAD v2 gnomAD v4
8g.132908277G>ACA463011606TGc.3939G>A (p.Leu1313=)
c.594G>A
c.3678G>A (p.Leu1226=)
8g.132908277G>CCA372244031TGc.3939G>C (p.Leu1313Phe)
c.594G>C
c.3678G>C (p.Leu1226Phe)
8g.132908277G=CA1821000361TGc.3939G= (p.Leu1313=)
c.594G=
c.3678G= (p.Leu1226=)
8g.132908277G>TCA4883954TGc.3939G>T (p.Leu1313Phe)
c.594G>T
c.3678G>T (p.Leu1226Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.132908278C>ACA372244039TGc.3940C>A (p.Leu1314Met)
c.595C>A
c.3679C>A (p.Leu1227Met)
8g.132908278C>GCA372244037TGc.3940C>G (p.Leu1314Val)
c.595C>G
c.3679C>G (p.Leu1227Val)
8g.132908278C>TCA463011607TGc.3940C>T (p.Leu1314=)
c.595C>T
c.3679C>T (p.Leu1227=)

Number of alleles fetched