Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154860354_154860355delCA2824313401F8c.6900+77_6900+78del (n.6900+77_6900+78del)
c.633+77_633+78del (n.633+77_633+78del)
c.495+77_495+78del (n.495+77_495+78del)
c.6795+77_6795+78del (n.6795+77_6795+78del)
Xg.154860355T>GCA2695167701F8c.6900+77A>C (n.6900+77A>C)
c.633+77A>C (n.633+77A>C)
c.495+77A>C (n.495+77A>C)
c.6795+77A>C (n.6795+77A>C)
 gnomAD v4
Xg.154860359dupCA2824313402F8c.6900+77dup (n.6900+77dup)
c.633+77dup (n.633+77dup)
c.495+77dup (n.495+77dup)
c.6795+77dup (n.6795+77dup)
Xg.154860359delCA2579752205F8c.6900+77del (n.6900+77del)
c.633+77del (n.633+77del)
c.495+77del (n.495+77del)
c.6795+77del (n.6795+77del)
Xg.154860358T>CCA2695167702F8c.6900+74A>G (n.6900+74A>G)
c.633+74A>G (n.633+74A>G)
c.495+74A>G (n.495+74A>G)
c.6795+74A>G (n.6795+74A>G)
 gnomAD v4
Xg.154860359T>ACA2579752206F8c.6900+73A>T (n.6900+73A>T)
c.633+73A>T (n.633+73A>T)
c.495+73A>T (n.495+73A>T)
c.6795+73A>T (n.6795+73A>T)
 gnomAD v4
Xg.154860359T>CCA1138598205F8c.6900+73A>G (n.6900+73A>G)
c.633+73A>G (n.633+73A>G)
c.495+73A>G (n.495+73A>G)
c.6795+73A>G (n.6795+73A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860359T=CA2466814940F8c.6900+73A= (n.6900+73A=)
c.633+73A= (n.633+73A=)
c.495+73A= (n.495+73A=)
c.6795+73A= (n.6795+73A=)
Xg.154860361T>CCA2466814942F8c.6900+71A>G (n.6900+71A>G)
c.633+71A>G (n.633+71A>G)
c.495+71A>G (n.495+71A>G)
c.6795+71A>G (n.6795+71A>G)
 dbSNP gnomAD v4
Xg.154860361T=CA2466814941F8c.6900+71A= (n.6900+71A=)
c.633+71A= (n.633+71A=)
c.495+71A= (n.495+71A=)
c.6795+71A= (n.6795+71A=)
Xg.154860362G>ACA873368124F8c.6900+70C>T (n.6900+70C>T)
c.633+70C>T (n.633+70C>T)
c.495+70C>T (n.495+70C>T)
c.6795+70C>T (n.6795+70C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860362G>CCA873368129F8c.6900+70C>G (n.6900+70C>G)
c.633+70C>G (n.633+70C>G)
c.495+70C>G (n.495+70C>G)
c.6795+70C>G (n.6795+70C>G)
 dbSNP gnomAD v4
Xg.154860362G=CA2466814943F8c.6900+70C= (n.6900+70C=)
c.633+70C= (n.633+70C=)
c.495+70C= (n.495+70C=)
c.6795+70C= (n.6795+70C=)
Xg.154860362G>TCA2695167703F8c.6900+70C>A (n.6900+70C>A)
c.633+70C>A (n.633+70C>A)
c.495+70C>A (n.495+70C>A)
c.6795+70C>A (n.6795+70C>A)
 gnomAD v4
Xg.154860363T>ACA337325824F8c.6900+69A>T (n.6900+69A>T)
c.633+69A>T (n.633+69A>T)
c.495+69A>T (n.495+69A>T)
c.6795+69A>T (n.6795+69A>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860363T>GCA2695167704F8c.6900+69A>C (n.6900+69A>C)
c.633+69A>C (n.633+69A>C)
c.495+69A>C (n.495+69A>C)
c.6795+69A>C (n.6795+69A>C)
 gnomAD v4
Xg.154860363T=CA2466814944F8c.6900+69A= (n.6900+69A=)
c.633+69A= (n.633+69A=)
c.495+69A= (n.495+69A=)
c.6795+69A= (n.6795+69A=)
Xg.154860364T>CCA2695167705F8c.6900+68A>G (n.6900+68A>G)
c.633+68A>G (n.633+68A>G)
c.495+68A>G (n.495+68A>G)
c.6795+68A>G (n.6795+68A>G)
 gnomAD v4
Xg.154860364T>GCA337325827F8c.6900+68A>C (n.6900+68A>C)
c.633+68A>C (n.633+68A>C)
c.495+68A>C (n.495+68A>C)
c.6795+68A>C (n.6795+68A>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860364T=CA2466814945F8c.6900+68A= (n.6900+68A=)
c.633+68A= (n.633+68A=)
c.495+68A= (n.495+68A=)
c.6795+68A= (n.6795+68A=)
Xg.154860365A>GCA2695167706F8c.6900+67T>C (n.6900+67T>C)
c.633+67T>C (n.633+67T>C)
c.495+67T>C (n.495+67T>C)
c.6795+67T>C (n.6795+67T>C)
 gnomAD v4
Xg.154860366T>CCA2695167707F8c.6900+66A>G (n.6900+66A>G)
c.633+66A>G (n.633+66A>G)
c.495+66A>G (n.495+66A>G)
c.6795+66A>G (n.6795+66A>G)
 gnomAD v4
Xg.154860367G>TCA2695167708F8c.6900+65C>A (n.6900+65C>A)
c.633+65C>A (n.633+65C>A)
c.495+65C>A (n.495+65C>A)
c.6795+65C>A (n.6795+65C>A)
 gnomAD v4
Xg.154860368T>CCA2695167709F8c.6900+64A>G (n.6900+64A>G)
c.633+64A>G (n.633+64A>G)
c.495+64A>G (n.495+64A>G)
c.6795+64A>G (n.6795+64A>G)
 gnomAD v4
Xg.154860370A>TCA2579752207F8c.6900+62T>A (n.6900+62T>A)
c.633+62T>A (n.633+62T>A)
c.495+62T>A (n.495+62T>A)
c.6795+62T>A (n.6795+62T>A)
Xg.154860372G>ACA873368134F8c.6900+60C>T (n.6900+60C>T)
c.633+60C>T (n.633+60C>T)
c.495+60C>T (n.495+60C>T)
c.6795+60C>T (n.6795+60C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860372G=CA2466814946F8c.6900+60C= (n.6900+60C=)
c.633+60C= (n.633+60C=)
c.495+60C= (n.495+60C=)
c.6795+60C= (n.6795+60C=)
Xg.154860372G>TCA2579752208F8c.6900+60C>A (n.6900+60C>A)
c.633+60C>A (n.633+60C>A)
c.495+60C>A (n.495+60C>A)
c.6795+60C>A (n.6795+60C>A)
 gnomAD v4
Xg.154860373C>TCA2695167710F8c.6900+59G>A (n.6900+59G>A)
c.633+59G>A (n.633+59G>A)
c.495+59G>A (n.495+59G>A)
c.6795+59G>A (n.6795+59G>A)
 gnomAD v4
Xg.154860375C=CA2466814947F8c.6900+57G= (n.6900+57G=)
c.633+57G= (n.633+57G=)
c.495+57G= (n.495+57G=)
c.6795+57G= (n.6795+57G=)
Xg.154860375C>GCA1138598209F8c.6900+57G>C (n.6900+57G>C)
c.633+57G>C (n.633+57G>C)
c.495+57G>C (n.495+57G>C)
c.6795+57G>C (n.6795+57G>C)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860376T>CCA658560499F8c.6900+56A>G (n.6900+56A>G)
c.633+56A>G (n.633+56A>G)
c.495+56A>G (n.495+56A>G)
c.6795+56A>G (n.6795+56A>G)
 COSMIC
Xg.154860376T>GCA2579752209F8c.6900+56A>C (n.6900+56A>C)
c.633+56A>C (n.633+56A>C)
c.495+56A>C (n.495+56A>C)
c.6795+56A>C (n.6795+56A>C)
Xg.154860377A>TCA2579752210F8c.6900+55T>A (n.6900+55T>A)
c.633+55T>A (n.633+55T>A)
c.495+55T>A (n.495+55T>A)
c.6795+55T>A (n.6795+55T>A)
Xg.154860378G>ACA2579752211F8c.6900+54C>T (n.6900+54C>T)
c.633+54C>T (n.633+54C>T)
c.495+54C>T (n.495+54C>T)
c.6795+54C>T (n.6795+54C>T)
Xg.154860384G>ACA2695167711F8c.6900+48C>T (n.6900+48C>T)
c.633+48C>T (n.633+48C>T)
c.495+48C>T (n.495+48C>T)
c.6795+48C>T (n.6795+48C>T)
 gnomAD v4
Xg.154860384G>TCA2579752212F8c.6900+48C>A (n.6900+48C>A)
c.633+48C>A (n.633+48C>A)
c.495+48C>A (n.495+48C>A)
c.6795+48C>A (n.6795+48C>A)
 gnomAD v4
Xg.154860386G>TCA2579752213F8c.6900+46C>A (n.6900+46C>A)
c.633+46C>A (n.633+46C>A)
c.495+46C>A (n.495+46C>A)
c.6795+46C>A (n.6795+46C>A)
Xg.154860387G>ACA2579752214F8c.6900+45C>T (n.6900+45C>T)
c.633+45C>T (n.633+45C>T)
c.495+45C>T (n.495+45C>T)
c.6795+45C>T (n.6795+45C>T)
Xg.154860387G>TCA2695167712F8c.6900+45C>A (n.6900+45C>A)
c.633+45C>A (n.633+45C>A)
c.495+45C>A (n.495+45C>A)
c.6795+45C>A (n.6795+45C>A)
 gnomAD v4
Xg.154860387_154860390delinsGTATCA2466814948F8c.6900+42_6900+45delinsATAC (n.6900+42_6900+45delinsATAC)
c.633+42_633+45delinsATAC (n.633+42_633+45delinsATAC)
c.495+42_495+45delinsATAC (n.495+42_495+45delinsATAC)
c.6795+42_6795+45delinsATAC (n.6795+42_6795+45delinsATAC)
Xg.154860388T>GCA10567734F8c.6900+44A>C (n.6900+44A>C)
c.633+44A>C (n.633+44A>C)
c.495+44A>C (n.495+44A>C)
c.6795+44A>C (n.6795+44A>C)
 dbSNP ExAC gnomAD v2
Xg.154860388T=CA2466814949F8c.6900+44A= (n.6900+44A=)
c.633+44A= (n.633+44A=)
c.495+44A= (n.495+44A=)
c.6795+44A= (n.6795+44A=)
Xg.154860389_154860391delCA10567733F8c.6900+42_6900+44del (n.6900+42_6900+44del)
c.633+42_633+44del (n.633+42_633+44del)
c.495+42_495+44del (n.495+42_495+44del)
c.6795+42_6795+44del (n.6795+42_6795+44del)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860389A>TCA2579752215F8c.6900+43T>A (n.6900+43T>A)
c.633+43T>A (n.633+43T>A)
c.495+43T>A (n.495+43T>A)
c.6795+43T>A (n.6795+43T>A)
 gnomAD v4
Xg.154860389_154860390delinsATCA2466814950F8c.6900+42_6900+43delinsAT (n.6900+42_6900+43delinsAT)
c.633+42_633+43delinsAT (n.633+42_633+43delinsAT)
c.495+42_495+43delinsAT (n.495+42_495+43delinsAT)
c.6795+42_6795+43delinsAT (n.6795+42_6795+43delinsAT)
Xg.154860390T>ACA873368141F8c.6900+42A>T (n.6900+42A>T)
c.633+42A>T (n.633+42A>T)
c.495+42A>T (n.495+42A>T)
c.6795+42A>T (n.6795+42A>T)
 dbSNP gnomAD v4
Xg.154860390T>CCA10567737F8c.6900+42A>G (n.6900+42A>G)
c.633+42A>G (n.633+42A>G)
c.495+42A>G (n.495+42A>G)
c.6795+42A>G (n.6795+42A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860390T=CA2466814951F8c.6900+42A= (n.6900+42A=)
c.633+42A= (n.633+42A=)
c.495+42A= (n.495+42A=)
c.6795+42A= (n.6795+42A=)
Xg.154860391_154860392insCTTTCA2695167713F8c.6900+42_6900+43insAGAA (n.6900+42_6900+43insAGAA)
c.633+42_633+43insAGAA (n.633+42_633+43insAGAA)
c.495+42_495+43insAGAA (n.495+42_495+43insAGAA)
c.6795+42_6795+43insAGAA (n.6795+42_6795+43insAGAA)
 gnomAD v4
Xg.154860397dupCA10567735F8c.6900+42dup (n.6900+42dup)
c.633+42dup (n.633+42dup)
c.495+42dup (n.495+42dup)
c.6795+42dup (n.6795+42dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860397delCA10567736F8c.6900+42del (n.6900+42del)
c.633+42del (n.633+42del)
c.495+42del (n.495+42del)
c.6795+42del (n.6795+42del)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860394_154860397delCA2579752216F8c.6900+39_6900+42del (n.6900+39_6900+42del)
c.633+39_633+42del (n.633+39_633+42del)
c.495+39_495+42del (n.495+39_495+42del)
c.6795+39_6795+42del (n.6795+39_6795+42del)
 gnomAD v4
Xg.154860393T>ACA2579752217F8c.6900+39A>T (n.6900+39A>T)
c.633+39A>T (n.633+39A>T)
c.495+39A>T (n.495+39A>T)
c.6795+39A>T (n.6795+39A>T)
 dbSNP
Xg.154860394T>CCA10567740F8c.6900+38A>G (n.6900+38A>G)
c.633+38A>G (n.633+38A>G)
c.495+38A>G (n.495+38A>G)
c.6795+38A>G (n.6795+38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860394T=CA2466814953F8c.6900+38A= (n.6900+38A=)
c.633+38A= (n.633+38A=)
c.495+38A= (n.495+38A=)
c.6795+38A= (n.6795+38A=)
Xg.154860394_154860398delinsTTTTCCA2466814952F8c.6900+34_6900+38delinsGAAAA (n.6900+34_6900+38delinsGAAAA)
c.633+34_633+38delinsGAAAA (n.633+34_633+38delinsGAAAA)
c.495+34_495+38delinsGAAAA (n.495+34_495+38delinsGAAAA)
c.6795+34_6795+38delinsGAAAA (n.6795+34_6795+38delinsGAAAA)
Xg.154860397_154860405delCA2579752218F8c.6900+30_6900+38del (n.6900+30_6900+38del)
c.633+30_633+38del (n.633+30_633+38del)
c.495+30_495+38del (n.495+30_495+38del)
c.6795+30_6795+38del (n.6795+30_6795+38del)
Xg.154860395_154860398delinsTTTCCA2466814954F8c.6900+34_6900+37delinsGAAA (n.6900+34_6900+37delinsGAAA)
c.633+34_633+37delinsGAAA (n.633+34_633+37delinsGAAA)
c.495+34_495+37delinsGAAA (n.495+34_495+37delinsGAAA)
c.6795+34_6795+37delinsGAAA (n.6795+34_6795+37delinsGAAA)
Xg.154860411_154860414dupCA10567739F8c.6900+34_6900+37dup (n.6900+34_6900+37dup)
c.633+34_633+37dup (n.633+34_633+37dup)
c.495+34_495+37dup (n.495+34_495+37dup)
c.6795+34_6795+37dup (n.6795+34_6795+37dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860407_154860414dupCA10567741F8c.6900+30_6900+37dup (n.6900+30_6900+37dup)
c.633+30_633+37dup (n.633+30_633+37dup)
c.495+30_495+37dup (n.495+30_495+37dup)
c.6795+30_6795+37dup (n.6795+30_6795+37dup)
 dbSNP ExAC
Xg.154860411_154860414delCA10567738F8c.6900+34_6900+37del (n.6900+34_6900+37del)
c.633+34_633+37del (n.633+34_633+37del)
c.495+34_495+37del (n.495+34_495+37del)
c.6795+34_6795+37del (n.6795+34_6795+37del)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860407_154860414delCA2695167714F8c.6900+30_6900+37del (n.6900+30_6900+37del)
c.633+30_633+37del (n.633+30_633+37del)
c.495+30_495+37del (n.495+30_495+37del)
c.6795+30_6795+37del (n.6795+30_6795+37del)
 gnomAD v4
Xg.154860398_154860400delCA645238386F8c.6900+34_6900+36del (n.6900+34_6900+36del)
c.633+34_633+36del (n.633+34_633+36del)
c.495+34_495+36del (n.495+34_495+36del)
c.6795+34_6795+36del (n.6795+34_6795+36del)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860397T>CCA2579752219F8c.6900+35A>G (n.6900+35A>G)
c.633+35A>G (n.633+35A>G)
c.495+35A>G (n.495+35A>G)
c.6795+35A>G (n.6795+35A>G)
Xg.154860397_154860398delinsTCCA2466814955F8c.6900+34_6900+35delinsGA (n.6900+34_6900+35delinsGA)
c.633+34_633+35delinsGA (n.633+34_633+35delinsGA)
c.495+34_495+35delinsGA (n.495+34_495+35delinsGA)
c.6795+34_6795+35delinsGA (n.6795+34_6795+35delinsGA)
Xg.154860398delCA645238387F8c.6900+34del (n.6900+34del)
c.633+34del (n.633+34del)
c.495+34del (n.495+34del)
c.6795+34del (n.6795+34del)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860398C=CA2466814956F8c.6900+34G= (n.6900+34G=)
c.633+34G= (n.633+34G=)
c.495+34G= (n.495+34G=)
c.6795+34G= (n.6795+34G=)
Xg.154860398C>TCA10567742F8c.6900+34G>A (n.6900+34G>A)
c.633+34G>A (n.633+34G>A)
c.495+34G>A (n.495+34G>A)
c.6795+34G>A (n.6795+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860399T>CCA1138598215F8c.6900+33A>G (n.6900+33A>G)
c.633+33A>G (n.633+33A>G)
c.495+33A>G (n.495+33A>G)
c.6795+33A>G (n.6795+33A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860399T=CA2466814957F8c.6900+33A= (n.6900+33A=)
c.633+33A= (n.633+33A=)
c.495+33A= (n.495+33A=)
c.6795+33A= (n.6795+33A=)
Xg.154860402_154860403insCTTCCA2695167715F8c.6900+32_6900+33insGGAA (n.6900+32_6900+33insGGAA)
c.633+32_633+33insGGAA (n.633+32_633+33insGGAA)
c.495+32_495+33insGGAA (n.495+32_495+33insGGAA)
c.6795+32_6795+33insGGAA (n.6795+32_6795+33insGGAA)
 gnomAD v4
Xg.154860402C=CA2466814958F8c.6900+30G= (n.6900+30G=)
c.633+30G= (n.633+30G=)
c.495+30G= (n.495+30G=)
c.6795+30G= (n.6795+30G=)
Xg.154860402C>TCA10567743F8c.6900+30G>A (n.6900+30G>A)
c.633+30G>A (n.633+30G>A)
c.495+30G>A (n.495+30G>A)
c.6795+30G>A (n.6795+30G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860405T>ACA10567744F8c.6900+27A>T (n.6900+27A>T)
c.633+27A>T (n.633+27A>T)
c.495+27A>T (n.495+27A>T)
c.6795+27A>T (n.6795+27A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860405T=CA2466814959F8c.6900+27A= (n.6900+27A=)
c.633+27A= (n.633+27A=)
c.495+27A= (n.495+27A=)
c.6795+27A= (n.6795+27A=)
Xg.154860406C=CA2466814960F8c.6900+26G= (n.6900+26G=)
c.633+26G= (n.633+26G=)
c.495+26G= (n.495+26G=)
c.6795+26G= (n.6795+26G=)
Xg.154860406C>GCA2695167716F8c.6900+26G>C (n.6900+26G>C)
c.633+26G>C (n.633+26G>C)
c.495+26G>C (n.495+26G>C)
c.6795+26G>C (n.6795+26G>C)
 gnomAD v4
Xg.154860406C>TCA10567745F8c.6900+26G>A (n.6900+26G>A)
c.633+26G>A (n.633+26G>A)
c.495+26G>A (n.495+26G>A)
c.6795+26G>A (n.6795+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860410C=CA2466814961F8c.6900+22G= (n.6900+22G=)
c.633+22G= (n.633+22G=)
c.495+22G= (n.495+22G=)
c.6795+22G= (n.6795+22G=)
Xg.154860410C>TCA10567746F8c.6900+22G>A (n.6900+22G>A)
c.633+22G>A (n.633+22G>A)
c.495+22G>A (n.495+22G>A)
c.6795+22G>A (n.6795+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860411T>CCA873368174F8c.6900+21A>G (n.6900+21A>G)
c.633+21A>G (n.633+21A>G)
c.495+21A>G (n.495+21A>G)
c.6795+21A>G (n.6795+21A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860411T=CA2466814963F8c.6900+21A= (n.6900+21A=)
c.633+21A= (n.633+21A=)
c.495+21A= (n.495+21A=)
c.6795+21A= (n.6795+21A=)
Xg.154860411_154860415delinsTTTCCCA2466814962F8c.6900+17_6900+21delinsGGAAA (n.6900+17_6900+21delinsGGAAA)
c.633+17_633+21delinsGGAAA (n.633+17_633+21delinsGGAAA)
c.495+17_495+21delinsGGAAA (n.495+17_495+21delinsGGAAA)
c.6795+17_6795+21delinsGGAAA (n.6795+17_6795+21delinsGGAAA)
Xg.154860412_154860415delCA10567747F8c.6900+17_6900+20del (n.6900+17_6900+20del)
c.633+17_633+20del (n.633+17_633+20del)
c.495+17_495+20del (n.495+17_495+20del)
c.6795+17_6795+20del (n.6795+17_6795+20del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860414C=CA2466814964F8c.6900+18G= (n.6900+18G=)
c.633+18G= (n.633+18G=)
c.495+18G= (n.495+18G=)
c.6795+18G= (n.6795+18G=)
Xg.154860414C>TCA10567748F8c.6900+18G>A (n.6900+18G>A)
c.633+18G>A (n.633+18G>A)
c.495+18G>A (n.495+18G>A)
c.6795+18G>A (n.6795+18G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860416A=CA2466814965F8c.6900+16T= (n.6900+16T=)
c.633+16T= (n.633+16T=)
c.495+16T= (n.495+16T=)
c.6795+16T= (n.6795+16T=)
Xg.154860416A>GCA10567749F8c.6900+16T>C (n.6900+16T>C)
c.633+16T>C (n.633+16T>C)
c.495+16T>C (n.495+16T>C)
c.6795+16T>C (n.6795+16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860418G>ACA10567750F8c.6900+14C>T (n.6900+14C>T)
c.633+14C>T (n.633+14C>T)
c.495+14C>T (n.495+14C>T)
c.6795+14C>T (n.6795+14C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860418G=CA2466814966F8c.6900+14C= (n.6900+14C=)
c.633+14C= (n.633+14C=)
c.495+14C= (n.495+14C=)
c.6795+14C= (n.6795+14C=)
Xg.154860419G>ACA645238388F8c.6900+13C>T (n.6900+13C>T)
c.633+13C>T (n.633+13C>T)
c.495+13C>T (n.495+13C>T)
c.6795+13C>T (n.6795+13C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860419G>CCA2695167717F8c.6900+13C>G (n.6900+13C>G)
c.633+13C>G (n.633+13C>G)
c.495+13C>G (n.495+13C>G)
c.6795+13C>G (n.6795+13C>G)
 gnomAD v4
Xg.154860419G=CA2466814967F8c.6900+13C= (n.6900+13C=)
c.633+13C= (n.633+13C=)
c.495+13C= (n.495+13C=)
c.6795+13C= (n.6795+13C=)
Xg.154860421G>TCA2695167718F8c.6900+11C>A (n.6900+11C>A)
c.633+11C>A (n.633+11C>A)
c.495+11C>A (n.495+11C>A)
c.6795+11C>A (n.6795+11C>A)
 gnomAD v4
Xg.154860421_154860422delinsGACA2466814968F8c.6900+10_6900+11delinsTC (n.6900+10_6900+11delinsTC)
c.633+10_633+11delinsTC (n.633+10_633+11delinsTC)
c.495+10_495+11delinsTC (n.495+10_495+11delinsTC)
c.6795+10_6795+11delinsTC (n.6795+10_6795+11delinsTC)
Xg.154860422delCA2466814969F8c.6900+10del (n.6900+10del)
c.633+10del (n.633+10del)
c.495+10del (n.495+10del)
c.6795+10del (n.6795+10del)
 dbSNP
Xg.154860422A=CA2466814970F8c.6900+10T= (n.6900+10T=)
c.633+10T= (n.633+10T=)
c.495+10T= (n.495+10T=)
c.6795+10T= (n.6795+10T=)
Xg.154860422A>TCA645238389F8c.6900+10T>A (n.6900+10T>A)
c.633+10T>A (n.633+10T>A)
c.495+10T>A (n.495+10T>A)
c.6795+10T>A (n.6795+10T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154860426G>ACA2466814972F8c.6900+6C>T (n.6900+6C>T)
c.633+6C>T (n.633+6C>T)
c.495+6C>T (n.495+6C>T)
c.6795+6C>T (n.6795+6C>T)
 dbSNP gnomAD v4
Xg.154860426G>CCA2466814973F8c.6900+6C>G (n.6900+6C>G)
c.633+6C>G (n.633+6C>G)
c.495+6C>G (n.495+6C>G)
c.6795+6C>G (n.6795+6C>G)
 dbSNP gnomAD v4
Xg.154860426G=CA2466814971F8c.6900+6C= (n.6900+6C=)
c.633+6C= (n.633+6C=)
c.495+6C= (n.495+6C=)
c.6795+6C= (n.6795+6C=)
Xg.154860430A>CCA414902780F8c.6900+2T>G (n.6900+2T>G)
c.633+2T>G (n.633+2T>G)
c.495+2T>G (n.495+2T>G)
c.6795+2T>G (n.6795+2T>G)
Xg.154860430A>GCA414902781F8c.6900+2T>C (n.6900+2T>C)
c.633+2T>C (n.633+2T>C)
c.495+2T>C (n.495+2T>C)
c.6795+2T>C (n.6795+2T>C)
Xg.154860430A>TCA414902784F8c.6900+2T>A (n.6900+2T>A)
c.633+2T>A (n.633+2T>A)
c.495+2T>A (n.495+2T>A)
c.6795+2T>A (n.6795+2T>A)
Xg.154860431C>ACA414902799F8c.6900+1G>T (n.6900+1G>T)
c.633+1G>T (n.633+1G>T)
c.495+1G>T (n.495+1G>T)
c.6795+1G>T (n.6795+1G>T)
Xg.154860431C=CA2466814974F8c.6900+1G= (n.6900+1G=)
c.633+1G= (n.633+1G=)
c.495+1G= (n.495+1G=)
c.6795+1G= (n.6795+1G=)
Xg.154860431C>GCA414902802F8c.6900+1G>C (n.6900+1G>C)
c.633+1G>C (n.633+1G>C)
c.495+1G>C (n.495+1G>C)
c.6795+1G>C (n.6795+1G>C)
 ClinVar
Xg.154860431C>TCA414902808F8c.6900+1G>A (n.6900+1G>A)
c.633+1G>A (n.633+1G>A)
c.495+1G>A (n.495+1G>A)
c.6795+1G>A (n.6795+1G>A)
 dbSNP gnomAD v4
Xg.154860432C>ACA414902814F8c.6900G>T (p.Lys2300Asn)
c.633G>T (p.Lys211Asn)
c.495G>T (p.Lys165Asn)
c.6795G>T (p.Lys2265Asn)
Xg.154860432C>GCA414902815F8c.6900G>C (p.Lys2300Asn)
c.633G>C (p.Lys211Asn)
c.495G>C (p.Lys165Asn)
c.6795G>C (p.Lys2265Asn)
Xg.154860432C>TCA519356028F8c.6900G>A (p.Lys2300=)
c.633G>A (p.Lys211=)
c.495G>A (p.Lys165=)
c.6795G>A (p.Lys2265=)
 gnomAD v4
Xg.154860433T>ACA414902816F8c.6899A>T (p.Lys2300Met)
c.632A>T (p.Lys211Met)
c.494A>T (p.Lys165Met)
c.6794A>T (p.Lys2265Met)
Xg.154860433T>CCA10567751F8c.6899A>G (p.Lys2300Arg)
c.632A>G (p.Lys211Arg)
c.494A>G (p.Lys165Arg)
c.6794A>G (p.Lys2265Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860433T>GCA414902821F8c.6899A>C (p.Lys2300Thr)
c.632A>C (p.Lys211Thr)
c.494A>C (p.Lys165Thr)
c.6794A>C (p.Lys2265Thr)
Xg.154860433T=CA2466814975F8c.6899A= (p.Lys2300=)
c.632A= (p.Lys211=)
c.494A= (p.Lys165=)
c.6794A= (p.Lys2265=)
Xg.154860434_154860435dupCA2695237119F8c.6898_6899dup (p.Val2301ArgfsTer14)
c.631_632dup (p.Val212ArgfsTer14)
c.493_494dup (p.Val166ArgfsTer14)
c.6793_6794dup (p.Val2266ArgfsTer14)
Xg.154860434T>ACA414902838F8c.6898A>T (p.Lys2300Ter)
c.631A>T (p.Lys211Ter)
c.493A>T (p.Lys165Ter)
c.6793A>T (p.Lys2265Ter)
Xg.154860434T>CCA414902843F8c.6898A>G (p.Lys2300Glu)
c.631A>G (p.Lys211Glu)
c.493A>G (p.Lys165Glu)
c.6793A>G (p.Lys2265Glu)
Xg.154860434T>GCA414902825F8c.6898A>C (p.Lys2300Gln)
c.631A>C (p.Lys211Gln)
c.493A>C (p.Lys165Gln)
c.6793A>C (p.Lys2265Gln)
Xg.154860435T>ACA519356034F8c.6897A>T (p.Val2299=)
c.630A>T (p.Val210=)
c.492A>T (p.Val164=)
c.6792A>T (p.Val2264=)
Xg.154860435T>CCA519356033F8c.6897A>G (p.Val2299=)
c.630A>G (p.Val210=)
c.492A>G (p.Val164=)
c.6792A>G (p.Val2264=)
Xg.154860435T>GCA519356032F8c.6897A>C (p.Val2299=)
c.630A>C (p.Val210=)
c.492A>C (p.Val164=)
c.6792A>C (p.Val2264=)
Xg.154860436A>CCA414902856F8c.6896T>G (p.Val2299Gly)
c.629T>G (p.Val210Gly)
c.491T>G (p.Val164Gly)
c.6791T>G (p.Val2264Gly)
Xg.154860436A>GCA414902847F8c.6896T>C (p.Val2299Ala)
c.629T>C (p.Val210Ala)
c.491T>C (p.Val164Ala)
c.6791T>C (p.Val2264Ala)
Xg.154860436A>TCA414902852F8c.6896T>A (p.Val2299Glu)
c.629T>A (p.Val210Glu)
c.491T>A (p.Val164Glu)
c.6791T>A (p.Val2264Glu)
Xg.154860437C>ACA414902859F8c.6895G>T (p.Val2299Leu)
c.628G>T (p.Val210Leu)
c.490G>T (p.Val164Leu)
c.6790G>T (p.Val2264Leu)
Xg.154860437C>GCA414902863F8c.6895G>C (p.Val2299Leu)
c.628G>C (p.Val210Leu)
c.490G>C (p.Val164Leu)
c.6790G>C (p.Val2264Leu)
Xg.154860437C>TCA414902864F8c.6895G>A (p.Val2299Ile)
c.628G>A (p.Val210Ile)
c.490G>A (p.Val164Ile)
c.6790G>A (p.Val2264Ile)
Xg.154860437_154860438insGTTCA2695237121F8c.6894_6895insAAC (p.Lys2298_Val2299insAsn)
c.627_628insAAC (p.Lys209_Val210insAsn)
c.489_490insAAC (p.Lys163_Val164insAsn)
c.6789_6790insAAC (p.Lys2263_Val2264insAsn)
Xg.154860438T>ACA414902867F8c.6894A>T (p.Lys2298Asn)
c.627A>T (p.Lys209Asn)
c.489A>T (p.Lys163Asn)
c.6789A>T (p.Lys2263Asn)
Xg.154860438T>CCA519356035F8c.6894A>G (p.Lys2298=)
c.627A>G (p.Lys209=)
c.489A>G (p.Lys163=)
c.6789A>G (p.Lys2263=)
Xg.154860438T>GCA414902870F8c.6894A>C (p.Lys2298Asn)
c.627A>C (p.Lys209Asn)
c.489A>C (p.Lys163Asn)
c.6789A>C (p.Lys2263Asn)
Xg.154860440delCA2695237120F8c.6894del (p.Val2299Ter)
c.627del (p.Val210Ter)
c.489del (p.Val164Ter)
c.6789del (p.Val2264Ter)
Xg.154860439T>ACA414902887F8c.6893A>T (p.Lys2298Ile)
c.626A>T (p.Lys209Ile)
c.488A>T (p.Lys163Ile)
c.6788A>T (p.Lys2263Ile)
Xg.154860439T>CCA414902893F8c.6893A>G (p.Lys2298Arg)
c.626A>G (p.Lys209Arg)
c.488A>G (p.Lys163Arg)
c.6788A>G (p.Lys2263Arg)
Xg.154860439T>GCA414902897F8c.6893A>C (p.Lys2298Thr)
c.626A>C (p.Lys209Thr)
c.488A>C (p.Lys163Thr)
c.6788A>C (p.Lys2263Thr)
Xg.154860440T>ACA414902904F8c.6892A>T (p.Lys2298Ter)
c.625A>T (p.Lys209Ter)
c.487A>T (p.Lys163Ter)
c.6787A>T (p.Lys2263Ter)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860440T>CCA414902908F8c.6892A>G (p.Lys2298Glu)
c.625A>G (p.Lys209Glu)
c.487A>G (p.Lys163Glu)
c.6787A>G (p.Lys2263Glu)
Xg.154860440T>GCA414902915F8c.6892A>C (p.Lys2298Gln)
c.625A>C (p.Lys209Gln)
c.487A>C (p.Lys163Gln)
c.6787A>C (p.Lys2263Gln)
Xg.154860440T=CA2466814976F8c.6892A= (p.Lys2298=)
c.625A= (p.Lys209=)
c.487A= (p.Lys163=)
c.6787A= (p.Lys2263=)
Xg.154860441G>ACA519356037F8c.6891C>T (p.Gly2297=)
c.624C>T (p.Gly208=)
c.486C>T (p.Gly162=)
c.6786C>T (p.Gly2262=)
Xg.154860441G>CCA519356039F8c.6891C>G (p.Gly2297=)
c.624C>G (p.Gly208=)
c.486C>G (p.Gly162=)
c.6786C>G (p.Gly2262=)
Xg.154860441G>TCA519356038F8c.6891C>A (p.Gly2297=)
c.624C>A (p.Gly208=)
c.486C>A (p.Gly162=)
c.6786C>A (p.Gly2262=)
 gnomAD v4
Xg.154860442C>ACA414902921F8c.6890G>T (p.Gly2297Val)
c.623G>T (p.Gly208Val)
c.485G>T (p.Gly162Val)
c.6785G>T (p.Gly2262Val)
Xg.154860442C>GCA414902925F8c.6890G>C (p.Gly2297Ala)
c.623G>C (p.Gly208Ala)
c.485G>C (p.Gly162Ala)
c.6785G>C (p.Gly2262Ala)
Xg.154860442C>TCA414902922F8c.6890G>A (p.Gly2297Asp)
c.623G>A (p.Gly208Asp)
c.485G>A (p.Gly162Asp)
c.6785G>A (p.Gly2262Asp)
 dbSNP gnomAD v3 gnomAD v4
Xg.154860443C>ACA414902930F8c.6889G>T (p.Gly2297Cys)
c.622G>T (p.Gly208Cys)
c.484G>T (p.Gly162Cys)
c.6784G>T (p.Gly2262Cys)
 COSMIC COSMIC
Xg.154860443C=CA2466814977F8c.6889G= (p.Gly2297=)
c.622G= (p.Gly208=)
c.484G= (p.Gly162=)
c.6784G= (p.Gly2262=)
Xg.154860443C>GCA414902941F8c.6889G>C (p.Gly2297Arg)
c.622G>C (p.Gly208Arg)
c.484G>C (p.Gly162Arg)
c.6784G>C (p.Gly2262Arg)
Xg.154860443C>TCA414902942F8c.6889G>A (p.Gly2297Ser)
c.622G>A (p.Gly208Ser)
c.484G>A (p.Gly162Ser)
c.6784G>A (p.Gly2262Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.154860444A=CA2466814978F8c.6888T= (p.Asn2296=)
c.621T= (p.Asn207=)
c.483T= (p.Asn161=)
c.6783T= (p.Asn2261=)
Xg.154860444A>CCA414902944F8c.6888T>G (p.Asn2296Lys)
c.621T>G (p.Asn207Lys)
c.483T>G (p.Asn161Lys)
c.6783T>G (p.Asn2261Lys)
 dbSNP gnomAD v4
Xg.154860444A>GCA10567752F8c.6888T>C (p.Asn2296=)
c.621T>C (p.Asn207=)
c.483T>C (p.Asn161=)
c.6783T>C (p.Asn2261=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154860444A>TCA414902950F8c.6888T>A (p.Asn2296Lys)
c.621T>A (p.Asn207Lys)
c.483T>A (p.Asn161Lys)
c.6783T>A (p.Asn2261Lys)
Xg.154860445T>ACA414902956F8c.6887A>T (p.Asn2296Ile)
c.620A>T (p.Asn207Ile)
c.482A>T (p.Asn161Ile)
c.6782A>T (p.Asn2261Ile)
Xg.154860445T>CCA414902959F8c.6887A>G (p.Asn2296Ser)
c.620A>G (p.Asn207Ser)
c.482A>G (p.Asn161Ser)
c.6782A>G (p.Asn2261Ser)
Xg.154860445T>GCA414902960F8c.6887A>C (p.Asn2296Thr)
c.620A>C (p.Asn207Thr)
c.482A>C (p.Asn161Thr)
c.6782A>C (p.Asn2261Thr)
Xg.154860446delCA2695237122F8c.6887del (p.Asn2296MetfsTer4)
c.620del (p.Asn207MetfsTer4)
c.482del (p.Asn161MetfsTer4)
c.6782del (p.Asn2261MetfsTer4)
Xg.154860446T>ACA414902983F8c.6886A>T (p.Asn2296Tyr)
c.619A>T (p.Asn207Tyr)
c.481A>T (p.Asn161Tyr)
c.6781A>T (p.Asn2261Tyr)
Xg.154860446T>CCA414902971F8c.6886A>G (p.Asn2296Asp)
c.619A>G (p.Asn207Asp)
c.481A>G (p.Asn161Asp)
c.6781A>G (p.Asn2261Asp)
Xg.154860446T>GCA414902963F8c.6886A>C (p.Asn2296His)
c.619A>C (p.Asn207His)
c.481A>C (p.Asn161His)
c.6781A>C (p.Asn2261His)
Xg.154860447C>ACA414902985F8c.6885G>T (p.Gln2295His)
c.618G>T (p.Gln206His)
c.480G>T (p.Gln160His)
c.6780G>T (p.Gln2260His)
Xg.154860447C>GCA414902986F8c.6885G>C (p.Gln2295His)
c.618G>C (p.Gln206His)
c.480G>C (p.Gln160His)
c.6780G>C (p.Gln2260His)
Xg.154860447C>TCA519356044F8c.6885G>A (p.Gln2295=)
c.618G>A (p.Gln206=)
c.480G>A (p.Gln160=)
c.6780G>A (p.Gln2260=)
Xg.154860448T>ACA414902991F8c.6884A>T (p.Gln2295Leu)
c.617A>T (p.Gln206Leu)
c.479A>T (p.Gln160Leu)
c.6779A>T (p.Gln2260Leu)
Xg.154860448T>CCA414902997F8c.6884A>G (p.Gln2295Arg)
c.617A>G (p.Gln206Arg)
c.479A>G (p.Gln160Arg)
c.6779A>G (p.Gln2260Arg)
 gnomAD v4
Xg.154860448T>GCA414903008F8c.6884A>C (p.Gln2295Pro)
c.617A>C (p.Gln206Pro)
c.479A>C (p.Gln160Pro)
c.6779A>C (p.Gln2260Pro)
Xg.154860449G>ACA414903015F8c.6883C>T (p.Gln2295Ter)
c.616C>T (p.Gln206Ter)
c.478C>T (p.Gln160Ter)
c.6778C>T (p.Gln2260Ter)
 COSMIC COSMIC
Xg.154860449G>CCA414903021F8c.6883C>G (p.Gln2295Glu)
c.616C>G (p.Gln206Glu)
c.478C>G (p.Gln160Glu)
c.6778C>G (p.Gln2260Glu)
Xg.154860449G>TCA414903028F8c.6883C>A (p.Gln2295Lys)
c.616C>A (p.Gln206Lys)
c.478C>A (p.Gln160Lys)
c.6778C>A (p.Gln2260Lys)
Xg.154860449_154860453delinsGAAAACA2466814979F8c.6879_6883delinsTTTTC (p.Phe2293=)
c.612_616delinsTTTTC (p.Phe204=)
c.474_478delinsTTTTC (p.Phe158=)
c.6774_6778delinsTTTTC (p.Phe2258=)
Xg.154860450A>CCA414903037F8c.6882T>G (p.Phe2294Leu)
c.615T>G (p.Phe205Leu)
c.477T>G (p.Phe159Leu)
c.6777T>G (p.Phe2259Leu)
Xg.154860450A>GCA519356045F8c.6882T>C (p.Phe2294=)
c.615T>C (p.Phe205=)
c.477T>C (p.Phe159=)
c.6777T>C (p.Phe2259=)
Xg.154860450A>TCA414903038F8c.6882T>A (p.Phe2294Leu)
c.615T>A (p.Phe205Leu)
c.477T>A (p.Phe159Leu)
c.6777T>A (p.Phe2259Leu)
Xg.154860455dupCA2695237123F8c.6882dup (p.Gln2295SerfsTer?)
c.615dup (p.Gln206SerfsTer?)
c.477dup (p.Gln160SerfsTer?)
c.6777dup (p.Gln2260SerfsTer?)
Xg.154860455delCA2695237124F8c.6882del (p.Gln2295ArgfsTer5)
c.615del (p.Gln206ArgfsTer5)
c.477del (p.Gln160ArgfsTer5)
c.6777del (p.Gln2260ArgfsTer5)
Xg.154860454_154860455delCA2695237125F8c.6881_6882del (p.Phe2294SerfsTer?)
c.614_615del (p.Phe205SerfsTer?)
c.476_477del (p.Phe159SerfsTer?)
c.6776_6777del (p.Phe2259SerfsTer?)
Xg.154860452_154860455delCA2466814980F8c.6879_6882del (p.Phe2294ArgfsTer5)
c.612_615del (p.Phe205ArgfsTer5)
c.474_477del (p.Phe159ArgfsTer5)
c.6774_6777del (p.Phe2259ArgfsTer5)
 dbSNP
Xg.154860451A>CCA414903040F8c.6881T>G (p.Phe2294Cys)
c.614T>G (p.Phe205Cys)
c.476T>G (p.Phe159Cys)
c.6776T>G (p.Phe2259Cys)
Xg.154860451A>GCA414903043F8c.6881T>C (p.Phe2294Ser)
c.614T>C (p.Phe205Ser)
c.476T>C (p.Phe159Ser)
c.6776T>C (p.Phe2259Ser)
Xg.154860451A>TCA414903046F8c.6881T>A (p.Phe2294Tyr)
c.614T>A (p.Phe205Tyr)
c.476T>A (p.Phe159Tyr)
c.6776T>A (p.Phe2259Tyr)
Xg.154860452A>CCA414903050F8c.6880T>G (p.Phe2294Val)
c.613T>G (p.Phe205Val)
c.475T>G (p.Phe159Val)
c.6775T>G (p.Phe2259Val)
Xg.154860452A>GCA414903059F8c.6880T>C (p.Phe2294Leu)
c.613T>C (p.Phe205Leu)
c.475T>C (p.Phe159Leu)
c.6775T>C (p.Phe2259Leu)
Xg.154860452A>TCA414903055F8c.6880T>A (p.Phe2294Ile)
c.613T>A (p.Phe205Ile)
c.475T>A (p.Phe159Ile)
c.6775T>A (p.Phe2259Ile)
Xg.154860453A>CCA414903070F8c.6879T>G (p.Phe2293Leu)
c.612T>G (p.Phe204Leu)
c.474T>G (p.Phe158Leu)
c.6774T>G (p.Phe2258Leu)
Xg.154860453A>GCA519356047F8c.6879T>C (p.Phe2293=)
c.612T>C (p.Phe204=)
c.474T>C (p.Phe158=)
c.6774T>C (p.Phe2258=)
Xg.154860453A>TCA414903076F8c.6879T>A (p.Phe2293Leu)
c.612T>A (p.Phe204Leu)
c.474T>A (p.Phe158Leu)
c.6774T>A (p.Phe2258Leu)
Xg.154860454A>CCA414903083F8c.6878T>G (p.Phe2293Cys)
c.611T>G (p.Phe204Cys)
c.473T>G (p.Phe158Cys)
c.6773T>G (p.Phe2258Cys)
 gnomAD v4
Xg.154860454A>GCA414903086F8c.6878T>C (p.Phe2293Ser)
c.611T>C (p.Phe204Ser)
c.473T>C (p.Phe158Ser)
c.6773T>C (p.Phe2258Ser)
Xg.154860454A>TCA414903090F8c.6878T>A (p.Phe2293Tyr)
c.611T>A (p.Phe204Tyr)
c.473T>A (p.Phe158Tyr)
c.6773T>A (p.Phe2258Tyr)
Xg.154860454_154860456delinsAAGCA2466814981F8c.6876_6878delinsCTT (p.Leu2292=)
c.609_611delinsCTT (p.Leu203=)
c.471_473delinsCTT (p.Leu157=)
c.6771_6773delinsCTT (p.Leu2257=)

Number of alleles fetched