Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26467078_26467096dupCA2658234805OTOFc.4362+6_4362+24dup (n.4362+6_4362+24dup)
c.2061+6_2061+24dup (n.2061+6_2061+24dup)
c.2121+6_2121+24dup (n.2121+6_2121+24dup)
c.2292+6_2292+24dup (n.2292+6_2292+24dup)
c.4347+6_4347+24dup (n.4347+6_4347+24dup)
c.4407+6_4407+24dup (n.4407+6_4407+24dup)
c.4302+6_4302+24dup (n.4302+6_4302+24dup)
 gnomAD v4
2g.26467087T>ACA1563206OTOFc.4362+12A>T (n.4362+12A>T)
c.2061+12A>T (n.2061+12A>T)
c.2121+12A>T (n.2121+12A>T)
c.2292+12A>T (n.2292+12A>T)
c.4347+12A>T (n.4347+12A>T)
c.4407+12A>T (n.4407+12A>T)
c.4302+12A>T (n.4302+12A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26467087T=CA1239817822OTOFc.4362+12A= (n.4362+12A=)
c.2061+12A= (n.2061+12A=)
c.2121+12A= (n.2121+12A=)
c.2292+12A= (n.2292+12A=)
c.4347+12A= (n.4347+12A=)
c.4407+12A= (n.4407+12A=)
c.4302+12A= (n.4302+12A=)
2g.26467089C=CA1239817823OTOFc.4362+10G= (n.4362+10G=)
c.2061+10G= (n.2061+10G=)
c.2121+10G= (n.2121+10G=)
c.2292+10G= (n.2292+10G=)
c.4347+10G= (n.4347+10G=)
c.4407+10G= (n.4407+10G=)
c.4302+10G= (n.4302+10G=)
2g.26467089C>TCA44413600OTOFc.4362+10G>A (n.4362+10G>A)
c.2061+10G>A (n.2061+10G>A)
c.2121+10G>A (n.2121+10G>A)
c.2292+10G>A (n.2292+10G>A)
c.4347+10G>A (n.4347+10G>A)
c.4407+10G>A (n.4407+10G>A)
c.4302+10G>A (n.4302+10G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.26467090T>CCA2658234812OTOFc.4362+9A>G (n.4362+9A>G)
c.2061+9A>G (n.2061+9A>G)
c.2121+9A>G (n.2121+9A>G)
c.2292+9A>G (n.2292+9A>G)
c.4347+9A>G (n.4347+9A>G)
c.4407+9A>G (n.4407+9A>G)
c.4302+9A>G (n.4302+9A>G)
 gnomAD v4
2g.26467092G>ACA531761719OTOFc.4362+7C>T (n.4362+7C>T)
c.2061+7C>T (n.2061+7C>T)
c.2121+7C>T (n.2121+7C>T)
c.2292+7C>T (n.2292+7C>T)
c.4347+7C>T (n.4347+7C>T)
c.4407+7C>T (n.4407+7C>T)
c.4302+7C>T (n.4302+7C>T)
 dbSNP gnomAD v2
2g.26467092G>CCA2740092763OTOFc.4362+7C>G (n.4362+7C>G)
c.2061+7C>G (n.2061+7C>G)
c.2121+7C>G (n.2121+7C>G)
c.2292+7C>G (n.2292+7C>G)
c.4347+7C>G (n.4347+7C>G)
c.4407+7C>G (n.4407+7C>G)
c.4302+7C>G (n.4302+7C>G)
 ClinVar
2g.26467092G=CA1239817824OTOFc.4362+7C= (n.4362+7C=)
c.2061+7C= (n.2061+7C=)
c.2121+7C= (n.2121+7C=)
c.2292+7C= (n.2292+7C=)
c.4347+7C= (n.4347+7C=)
c.4407+7C= (n.4407+7C=)
c.4302+7C= (n.4302+7C=)
2g.26467092G>TCA2658234813OTOFc.4362+7C>A (n.4362+7C>A)
c.2061+7C>A (n.2061+7C>A)
c.2121+7C>A (n.2121+7C>A)
c.2292+7C>A (n.2292+7C>A)
c.4347+7C>A (n.4347+7C>A)
c.4407+7C>A (n.4407+7C>A)
c.4302+7C>A (n.4302+7C>A)
 gnomAD v4
2g.26467093C>ACA2658234814OTOFc.4362+6G>T (n.4362+6G>T)
c.2061+6G>T (n.2061+6G>T)
c.2121+6G>T (n.2121+6G>T)
c.2292+6G>T (n.2292+6G>T)
c.4347+6G>T (n.4347+6G>T)
c.4407+6G>T (n.4407+6G>T)
c.4302+6G>T (n.4302+6G>T)
 gnomAD v4
2g.26467094C=CA1239817826OTOFc.4362+5G= (n.4362+5G=)
c.2061+5G= (n.2061+5G=)
c.2121+5G= (n.2121+5G=)
c.2292+5G= (n.2292+5G=)
c.4347+5G= (n.4347+5G=)
c.4407+5G= (n.4407+5G=)
c.4302+5G= (n.4302+5G=)
2g.26467094C>GCA531761720OTOFc.4362+5G>C (n.4362+5G>C)
c.2061+5G>C (n.2061+5G>C)
c.2121+5G>C (n.2121+5G>C)
c.2292+5G>C (n.2292+5G>C)
c.4347+5G>C (n.4347+5G>C)
c.4407+5G>C (n.4407+5G>C)
c.4302+5G>C (n.4302+5G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.26467096G>TCA2658234815OTOFc.4362+3C>A (n.4362+3C>A)
c.2061+3C>A (n.2061+3C>A)
c.2121+3C>A (n.2121+3C>A)
c.2292+3C>A (n.2292+3C>A)
c.4347+3C>A (n.4347+3C>A)
c.4407+3C>A (n.4407+3C>A)
c.4302+3C>A (n.4302+3C>A)
 gnomAD v4
2g.26467097A>CCA346136687OTOFc.4362+2T>G (n.4362+2T>G)
c.2061+2T>G (n.2061+2T>G)
c.2121+2T>G (n.2121+2T>G)
c.2292+2T>G (n.2292+2T>G)
c.4347+2T>G (n.4347+2T>G)
c.4407+2T>G (n.4407+2T>G)
c.4302+2T>G (n.4302+2T>G)
2g.26467097A>GCA346136689OTOFc.4362+2T>C (n.4362+2T>C)
c.2061+2T>C (n.2061+2T>C)
c.2121+2T>C (n.2121+2T>C)
c.2292+2T>C (n.2292+2T>C)
c.4347+2T>C (n.4347+2T>C)
c.4407+2T>C (n.4407+2T>C)
c.4302+2T>C (n.4302+2T>C)
2g.26467097A>TCA346136691OTOFc.4362+2T>A (n.4362+2T>A)
c.2061+2T>A (n.2061+2T>A)
c.2121+2T>A (n.2121+2T>A)
c.2292+2T>A (n.2292+2T>A)
c.4347+2T>A (n.4347+2T>A)
c.4407+2T>A (n.4407+2T>A)
c.4302+2T>A (n.4302+2T>A)
2g.26467098C>ACA346136694OTOFc.4362+1G>T (n.4362+1G>T)
c.2061+1G>T (n.2061+1G>T)
c.2121+1G>T (n.2121+1G>T)
c.2292+1G>T (n.2292+1G>T)
c.4347+1G>T (n.4347+1G>T)
c.4407+1G>T (n.4407+1G>T)
c.4302+1G>T (n.4302+1G>T)
 gnomAD v4
2g.26467098C=CA1239817827OTOFc.4362+1G= (n.4362+1G=)
c.2061+1G= (n.2061+1G=)
c.2121+1G= (n.2121+1G=)
c.2292+1G= (n.2292+1G=)
c.4347+1G= (n.4347+1G=)
c.4407+1G= (n.4407+1G=)
c.4302+1G= (n.4302+1G=)
2g.26467098C>GCA346136695OTOFc.4362+1G>C (n.4362+1G>C)
c.2061+1G>C (n.2061+1G>C)
c.2121+1G>C (n.2121+1G>C)
c.2292+1G>C (n.2292+1G>C)
c.4347+1G>C (n.4347+1G>C)
c.4407+1G>C (n.4407+1G>C)
c.4302+1G>C (n.4302+1G>C)
 ClinVar dbSNP gnomAD v4
2g.26467098C>TCA346136692OTOFc.4362+1G>A (n.4362+1G>A)
c.2061+1G>A (n.2061+1G>A)
c.2121+1G>A (n.2121+1G>A)
c.2292+1G>A (n.2292+1G>A)
c.4347+1G>A (n.4347+1G>A)
c.4407+1G>A (n.4407+1G>A)
c.4302+1G>A (n.4302+1G>A)
 dbSNP gnomAD v4
2g.26467099C>ACA346136697OTOFc.4362G>T (p.Lys1454Asn)
c.2061G>T (p.Lys687Asn)
c.2121G>T (p.Lys707Asn)
c.2292G>T (p.Lys764Asn)
c.4347G>T (p.Lys1449Asn)
c.4407G>T (p.Lys1469Asn)
c.4302G>T (p.Lys1434Asn)
2g.26467099C>GCA346136698OTOFc.4362G>C (p.Lys1454Asn)
c.2061G>C (p.Lys687Asn)
c.2121G>C (p.Lys707Asn)
c.2292G>C (p.Lys764Asn)
c.4347G>C (p.Lys1449Asn)
c.4407G>C (p.Lys1469Asn)
c.4302G>C (p.Lys1434Asn)
 gnomAD v4
2g.26467099C>TCA425359546OTOFc.4362G>A (p.Lys1454=)
c.2061G>A (p.Lys687=)
c.2121G>A (p.Lys707=)
c.2292G>A (p.Lys764=)
c.4347G>A (p.Lys1449=)
c.4407G>A (p.Lys1469=)
c.4302G>A (p.Lys1434=)
2g.26467100T>ACA346136699OTOFc.4361A>T (p.Lys1454Met)
c.2060A>T (p.Lys687Met)
c.2120A>T (p.Lys707Met)
c.2291A>T (p.Lys764Met)
c.4346A>T (p.Lys1449Met)
c.4406A>T (p.Lys1469Met)
c.4301A>T (p.Lys1434Met)
2g.26467100T>CCA346136700OTOFc.4361A>G (p.Lys1454Arg)
c.2060A>G (p.Lys687Arg)
c.2120A>G (p.Lys707Arg)
c.2291A>G (p.Lys764Arg)
c.4346A>G (p.Lys1449Arg)
c.4406A>G (p.Lys1469Arg)
c.4301A>G (p.Lys1434Arg)
 gnomAD v4
2g.26467100T>GCA346136702OTOFc.4361A>C (p.Lys1454Thr)
c.2060A>C (p.Lys687Thr)
c.2120A>C (p.Lys707Thr)
c.2291A>C (p.Lys764Thr)
c.4346A>C (p.Lys1449Thr)
c.4406A>C (p.Lys1469Thr)
c.4301A>C (p.Lys1434Thr)
2g.26467101T>ACA346136706OTOFc.4360A>T (p.Lys1454Ter)
c.2059A>T (p.Lys687Ter)
c.2119A>T (p.Lys707Ter)
c.2290A>T (p.Lys764Ter)
c.4345A>T (p.Lys1449Ter)
c.4405A>T (p.Lys1469Ter)
c.4300A>T (p.Lys1434Ter)
2g.26467101T>CCA346136703OTOFc.4360A>G (p.Lys1454Glu)
c.2059A>G (p.Lys687Glu)
c.2119A>G (p.Lys707Glu)
c.2290A>G (p.Lys764Glu)
c.4345A>G (p.Lys1449Glu)
c.4405A>G (p.Lys1469Glu)
c.4300A>G (p.Lys1434Glu)
2g.26467101T>GCA346136705OTOFc.4360A>C (p.Lys1454Gln)
c.2059A>C (p.Lys687Gln)
c.2119A>C (p.Lys707Gln)
c.2290A>C (p.Lys764Gln)
c.4345A>C (p.Lys1449Gln)
c.4405A>C (p.Lys1469Gln)
c.4300A>C (p.Lys1434Gln)
2g.26467102G>ACA425359548OTOFc.4359C>T (p.Phe1453=)
c.2058C>T (p.Phe686=)
c.2118C>T (p.Phe706=)
c.2289C>T (p.Phe763=)
c.4344C>T (p.Phe1448=)
c.4404C>T (p.Phe1468=)
c.4299C>T (p.Phe1433=)
2g.26467102G>CCA346136708OTOFc.4359C>G (p.Phe1453Leu)
c.2058C>G (p.Phe686Leu)
c.2118C>G (p.Phe706Leu)
c.2289C>G (p.Phe763Leu)
c.4344C>G (p.Phe1448Leu)
c.4404C>G (p.Phe1468Leu)
c.4299C>G (p.Phe1433Leu)
2g.26467102G>TCA346136709OTOFc.4359C>A (p.Phe1453Leu)
c.2058C>A (p.Phe686Leu)
c.2118C>A (p.Phe706Leu)
c.2289C>A (p.Phe763Leu)
c.4344C>A (p.Phe1448Leu)
c.4404C>A (p.Phe1468Leu)
c.4299C>A (p.Phe1433Leu)
 gnomAD v4
2g.26467103A>CCA346136711OTOFc.4358T>G (p.Phe1453Cys)
c.2057T>G (p.Phe686Cys)
c.2117T>G (p.Phe706Cys)
c.2288T>G (p.Phe763Cys)
c.4343T>G (p.Phe1448Cys)
c.4403T>G (p.Phe1468Cys)
c.4298T>G (p.Phe1433Cys)
2g.26467103A>GCA346136712OTOFc.4358T>C (p.Phe1453Ser)
c.2057T>C (p.Phe686Ser)
c.2117T>C (p.Phe706Ser)
c.2288T>C (p.Phe763Ser)
c.4343T>C (p.Phe1448Ser)
c.4403T>C (p.Phe1468Ser)
c.4298T>C (p.Phe1433Ser)
2g.26467103A>TCA346136714OTOFc.4358T>A (p.Phe1453Tyr)
c.2057T>A (p.Phe686Tyr)
c.2117T>A (p.Phe706Tyr)
c.2288T>A (p.Phe763Tyr)
c.4343T>A (p.Phe1448Tyr)
c.4403T>A (p.Phe1468Tyr)
c.4298T>A (p.Phe1433Tyr)
2g.26467104A=CA1239817830OTOFc.4357T= (p.Phe1453=)
c.2056T= (p.Phe686=)
c.2116T= (p.Phe706=)
c.2287T= (p.Phe763=)
c.4342T= (p.Phe1448=)
c.4402T= (p.Phe1468=)
c.4297T= (p.Phe1433=)
2g.26467104A>CCA346136718OTOFc.4357T>G (p.Phe1453Val)
c.2056T>G (p.Phe686Val)
c.2116T>G (p.Phe706Val)
c.2287T>G (p.Phe763Val)
c.4342T>G (p.Phe1448Val)
c.4402T>G (p.Phe1468Val)
c.4297T>G (p.Phe1433Val)
2g.26467104A>GCA346136715OTOFc.4357T>C (p.Phe1453Leu)
c.2056T>C (p.Phe686Leu)
c.2116T>C (p.Phe706Leu)
c.2287T>C (p.Phe763Leu)
c.4342T>C (p.Phe1448Leu)
c.4402T>C (p.Phe1468Leu)
c.4297T>C (p.Phe1433Leu)
 dbSNP gnomAD v4
2g.26467104A>TCA346136717OTOFc.4357T>A (p.Phe1453Ile)
c.2056T>A (p.Phe686Ile)
c.2116T>A (p.Phe706Ile)
c.2287T>A (p.Phe763Ile)
c.4342T>A (p.Phe1448Ile)
c.4402T>A (p.Phe1468Ile)
c.4297T>A (p.Phe1433Ile)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.26467105G>ACA425359555OTOFc.4356C>T (p.Arg1452=)
c.2055C>T (p.Arg685=)
c.2115C>T (p.Arg705=)
c.2286C>T (p.Arg762=)
c.4341C>T (p.Arg1447=)
c.4401C>T (p.Arg1467=)
c.4296C>T (p.Arg1432=)
2g.26467105G>CCA425359556OTOFc.4356C>G (p.Arg1452=)
c.2055C>G (p.Arg685=)
c.2115C>G (p.Arg705=)
c.2286C>G (p.Arg762=)
c.4341C>G (p.Arg1447=)
c.4401C>G (p.Arg1467=)
c.4296C>G (p.Arg1432=)
2g.26467105G>TCA425359557OTOFc.4356C>A (p.Arg1452=)
c.2055C>A (p.Arg685=)
c.2115C>A (p.Arg705=)
c.2286C>A (p.Arg762=)
c.4341C>A (p.Arg1447=)
c.4401C>A (p.Arg1467=)
c.4296C>A (p.Arg1432=)
2g.26467106C>ACA346136720OTOFc.4355G>T (p.Arg1452Leu)
c.2054G>T (p.Arg685Leu)
c.2114G>T (p.Arg705Leu)
c.2285G>T (p.Arg762Leu)
c.4340G>T (p.Arg1447Leu)
c.4400G>T (p.Arg1467Leu)
c.4295G>T (p.Arg1432Leu)
2g.26467106C=CA1239817832OTOFc.4355G= (p.Arg1452=)
c.2054G= (p.Arg685=)
c.2114G= (p.Arg705=)
c.2285G= (p.Arg762=)
c.4340G= (p.Arg1447=)
c.4400G= (p.Arg1467=)
c.4295G= (p.Arg1432=)
2g.26467106C>GCA346136722OTOFc.4355G>C (p.Arg1452Pro)
c.2054G>C (p.Arg685Pro)
c.2114G>C (p.Arg705Pro)
c.2285G>C (p.Arg762Pro)
c.4340G>C (p.Arg1447Pro)
c.4400G>C (p.Arg1467Pro)
c.4295G>C (p.Arg1432Pro)
2g.26467106C>TCA1563207OTOFc.4355G>A (p.Arg1452His)
c.2054G>A (p.Arg685His)
c.2114G>A (p.Arg705His)
c.2285G>A (p.Arg762His)
c.4340G>A (p.Arg1447His)
c.4400G>A (p.Arg1467His)
c.4295G>A (p.Arg1432His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26467107G>ACA1563208OTOFc.4354C>T (p.Arg1452Cys)
c.2053C>T (p.Arg685Cys)
c.2113C>T (p.Arg705Cys)
c.2284C>T (p.Arg762Cys)
c.4339C>T (p.Arg1447Cys)
c.4399C>T (p.Arg1467Cys)
c.4294C>T (p.Arg1432Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.26467107G>CCA346136724OTOFc.4354C>G (p.Arg1452Gly)
c.2053C>G (p.Arg685Gly)
c.2113C>G (p.Arg705Gly)
c.2284C>G (p.Arg762Gly)
c.4339C>G (p.Arg1447Gly)
c.4399C>G (p.Arg1467Gly)
c.4294C>G (p.Arg1432Gly)
2g.26467107G=CA1239817835OTOFc.4354C= (p.Arg1452=)
c.2053C= (p.Arg685=)
c.2113C= (p.Arg705=)
c.2284C= (p.Arg762=)
c.4339C= (p.Arg1447=)
c.4399C= (p.Arg1467=)
c.4294C= (p.Arg1432=)

Number of alleles fetched