Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51789396A=CA2036172272SCN8Ac.4397A= (p.Asn1466=)
c.2461A=
c.4274A= (p.Asn1425=)
c.4430A= (p.Asn1477=)
12g.51789396A>CCA170759SCN8Ac.4397A>C (p.Asn1466Thr)
c.2461A>C
c.4274A>C (p.Asn1425Thr)
c.4430A>C (p.Asn1477Thr)
 ClinVar dbSNP
12g.51789396A>GCA384908570SCN8Ac.4397A>G (p.Asn1466Ser)
c.2461A>G
c.4274A>G (p.Asn1425Ser)
c.4430A>G (p.Asn1477Ser)
 ClinVar dbSNP
12g.51789396A>TCA384908569SCN8Ac.4397A>T (p.Asn1466Ile)
c.2461A>T
c.4274A>T (p.Asn1425Ile)
c.4430A>T (p.Asn1477Ile)
12g.51789397C>ACA170758SCN8Ac.4398C>A (p.Asn1466Lys)
c.2462C>A
c.4275C>A (p.Asn1425Lys)
c.4431C>A (p.Asn1477Lys)
 ClinVar dbSNP
12g.51789397C=CA2036172283SCN8Ac.4398C= (p.Asn1466=)
c.2462C=
c.4275C= (p.Asn1425=)
c.4431C= (p.Asn1477=)
12g.51789397C>GCA384908571SCN8Ac.4398C>G (p.Asn1466Lys)
c.2462C>G
c.4275C>G (p.Asn1425Lys)
c.4431C>G (p.Asn1477Lys)
12g.51789397C>TCA479795022SCN8Ac.4398C>T (p.Asn1466=)
c.2462C>T
c.4275C>T (p.Asn1425=)
c.4431C>T (p.Asn1477=)
 ClinVar
12g.51789398T>ACA384908572SCN8Ac.4399T>A (p.Phe1467Ile)
c.2463T>A
c.4276T>A (p.Phe1426Ile)
c.4432T>A (p.Phe1478Ile)
12g.51789398T>CCA384908573SCN8Ac.4399T>C (p.Phe1467Leu)
c.2463T>C
c.4276T>C (p.Phe1426Leu)
c.4432T>C (p.Phe1478Leu)
12g.51789398T>GCA384908574SCN8Ac.4399T>G (p.Phe1467Val)
c.2463T>G
c.4276T>G (p.Phe1426Val)
c.4432T>G (p.Phe1478Val)
 ClinVar
12g.51789399T>ACA384908575SCN8Ac.4400T>A (p.Phe1467Tyr)
c.2464T>A
c.4277T>A (p.Phe1426Tyr)
c.4433T>A (p.Phe1478Tyr)
12g.51789399T>CCA384908576SCN8Ac.4400T>C (p.Phe1467Ser)
c.2464T>C
c.4277T>C (p.Phe1426Ser)
c.4433T>C (p.Phe1478Ser)
12g.51789399T>GCA384908577SCN8Ac.4400T>G (p.Phe1467Cys)
c.2464T>G
c.4277T>G (p.Phe1426Cys)
c.4433T>G (p.Phe1478Cys)
 ClinVar dbSNP
12g.51789399T=CA2036172289SCN8Ac.4400T= (p.Phe1467=)
c.2464T=
c.4277T= (p.Phe1426=)
c.4433T= (p.Phe1478=)
12g.51789400C>ACA384908578SCN8Ac.4401C>A (p.Phe1467Leu)
c.2465C>A
c.4278C>A (p.Phe1426Leu)
c.4434C>A (p.Phe1478Leu)
 COSMIC COSMIC
12g.51789400C>GCA384908579SCN8Ac.4401C>G (p.Phe1467Leu)
c.2465C>G
c.4278C>G (p.Phe1426Leu)
c.4434C>G (p.Phe1478Leu)
12g.51789400C>TCA479795025SCN8Ac.4401C>T (p.Phe1467=)
c.2465C>T
c.4278C>T (p.Phe1426=)
c.4434C>T (p.Phe1478=)
12g.51789401A>CCA384908580SCN8Ac.4402A>C (p.Asn1468His)
c.2466A>C
c.4279A>C (p.Asn1427His)
c.4435A>C (p.Asn1479His)
12g.51789401A>GCA384908581SCN8Ac.4402A>G (p.Asn1468Asp)
c.2466A>G
c.4279A>G (p.Asn1427Asp)
c.4435A>G (p.Asn1479Asp)
12g.51789401A>TCA384908582SCN8Ac.4402A>T (p.Asn1468Tyr)
c.2466A>T
c.4279A>T (p.Asn1427Tyr)
c.4435A>T (p.Asn1479Tyr)
12g.51789402A=CA2036172296SCN8Ac.4403A= (p.Asn1468=)
c.2467A=
c.4280A= (p.Asn1427=)
c.4436A= (p.Asn1479=)
12g.51789402A>CCA384908584SCN8Ac.4403A>C (p.Asn1468Thr)
c.2467A>C
c.4280A>C (p.Asn1427Thr)
c.4436A>C (p.Asn1479Thr)
12g.51789402A>GCA16043682SCN8Ac.4403A>G (p.Asn1468Ser)
c.2467A>G
c.4280A>G (p.Asn1427Ser)
c.4436A>G (p.Asn1479Ser)
 ClinVar dbSNP dbSNP gnomAD v4
12g.51789402A>TCA384908583SCN8Ac.4403A>T (p.Asn1468Ile)
c.2467A>T
c.4280A>T (p.Asn1427Ile)
c.4436A>T (p.Asn1479Ile)
12g.51789403T>ACA384908585SCN8Ac.4404T>A (p.Asn1468Lys)
c.2468T>A
c.4281T>A (p.Asn1427Lys)
c.4437T>A (p.Asn1479Lys)
12g.51789403T>CCA479795026SCN8Ac.4404T>C (p.Asn1468=)
c.2468T>C
c.4281T>C (p.Asn1427=)
c.4437T>C (p.Asn1479=)
 gnomAD v4
12g.51789403T>GCA384908586SCN8Ac.4404T>G (p.Asn1468Lys)
c.2468T>G
c.4281T>G (p.Asn1427Lys)
c.4437T>G (p.Asn1479Lys)
12g.51789404C>ACA384908587SCN8Ac.4405C>A (p.Gln1469Lys)
c.2469C>A
c.4282C>A (p.Gln1428Lys)
c.4438C>A (p.Gln1480Lys)
 COSMIC COSMIC
12g.51789404C=CA2036172301SCN8Ac.4405C= (p.Gln1469=)
c.2469C=
c.4282C= (p.Gln1428=)
c.4438C= (p.Gln1480=)
12g.51789404C>GCA384908588SCN8Ac.4405C>G (p.Gln1469Glu)
c.2469C>G
c.4282C>G (p.Gln1428Glu)
c.4438C>G (p.Gln1480Glu)
12g.51789404C>TCA384908589SCN8Ac.4405C>T (p.Gln1469Ter)
c.2469C>T
c.4282C>T (p.Gln1428Ter)
c.4438C>T (p.Gln1480Ter)
 dbSNP
12g.51789405A>CCA384908592SCN8Ac.4406A>C (p.Gln1469Pro)
c.2470A>C
c.4283A>C (p.Gln1428Pro)
c.4439A>C (p.Gln1480Pro)
12g.51789405A>GCA384908590SCN8Ac.4406A>G (p.Gln1469Arg)
c.2470A>G
c.4283A>G (p.Gln1428Arg)
c.4439A>G (p.Gln1480Arg)
12g.51789405A>TCA384908591SCN8Ac.4406A>T (p.Gln1469Leu)
c.2470A>T
c.4283A>T (p.Gln1428Leu)
c.4439A>T (p.Gln1480Leu)
12g.51789406A>CCA384908593SCN8Ac.4407A>C (p.Gln1469His)
c.2471A>C
c.4284A>C (p.Gln1428His)
c.4440A>C (p.Gln1480His)
12g.51789406A>GCA479795028SCN8Ac.4407A>G (p.Gln1469=)
c.2471A>G
c.4284A>G (p.Gln1428=)
c.4440A>G (p.Gln1480=)
12g.51789406A>TCA384908594SCN8Ac.4407A>T (p.Gln1469His)
c.2471A>T
c.4284A>T (p.Gln1428His)
c.4440A>T (p.Gln1480His)
12g.51789407C>ACA384908595SCN8Ac.4408C>A (p.Gln1470Lys)
c.2472C>A
c.4285C>A (p.Gln1429Lys)
c.4441C>A (p.Gln1481Lys)
 ClinVar
12g.51789407C=CA2036172307SCN8Ac.4408C= (p.Gln1470=)
c.2472C=
c.4285C= (p.Gln1429=)
c.4441C= (p.Gln1481=)
12g.51789407C>GCA384908596SCN8Ac.4408C>G (p.Gln1470Glu)
c.2472C>G
c.4285C>G (p.Gln1429Glu)
c.4441C>G (p.Gln1481Glu)
12g.51789407C>TCA384908597SCN8Ac.4408C>T (p.Gln1470Ter)
c.2472C>T
c.4285C>T (p.Gln1429Ter)
c.4441C>T (p.Gln1481Ter)
 dbSNP gnomAD v4
12g.51789407_51789408delinsCACA2036172308SCN8Ac.4408_4409delinsCA (p.Gln1470=)
c.2472_2473delinsCA
c.4285_4286delinsCA (p.Gln1429=)
c.4441_4442delinsCA (p.Gln1481=)
12g.51789408A=CA2036172315SCN8Ac.4409A= (p.Gln1470=)
c.2473A=
c.4286A= (p.Gln1429=)
c.4442A= (p.Gln1481=)
12g.51789408A>CCA384908600SCN8Ac.4409A>C (p.Gln1470Pro)
c.2473A>C
c.4286A>C (p.Gln1429Pro)
c.4442A>C (p.Gln1481Pro)
 ClinVar dbSNP
12g.51789408A>GCA384908599SCN8Ac.4409A>G (p.Gln1470Arg)
c.2473A>G
c.4286A>G (p.Gln1429Arg)
c.4442A>G (p.Gln1481Arg)
 ClinVar dbSNP
12g.51789408A>TCA384908598SCN8Ac.4409A>T (p.Gln1470Leu)
c.2473A>T
c.4286A>T (p.Gln1429Leu)
c.4442A>T (p.Gln1481Leu)
12g.51789411delCA1139662691SCN8Ac.4412del (p.Lys1471ArgfsTer11)
c.2476del
c.4289del (p.Lys1430ArgfsTer11)
c.4445del (p.Lys1482ArgfsTer11)
 ClinVar dbSNP
12g.51789409A>CCA384908601SCN8Ac.4410A>C (p.Gln1470His)
c.2474A>C
c.4287A>C (p.Gln1429His)
c.4443A>C (p.Gln1481His)
12g.51789409A>GCA479795031SCN8Ac.4410A>G (p.Gln1470=)
c.2474A>G
c.4287A>G (p.Gln1429=)
c.4443A>G (p.Gln1481=)

Number of alleles fetched