Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154860364T>C | CA2695167705 | F8 | c.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 |
X | g.154860364T>G | CA337325827 | F8 | c.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 |
X | g.154860364T= | CA2466814945 | F8 | c.6900+68A= (n.6900+68A=) c.633+68A= (n.633+68A=) c.495+68A= (n.495+68A=) c.6795+68A= (n.6795+68A=) | |
X | g.154860365A>G | CA2695167706 | F8 | c.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 |
X | g.154860366T>C | CA2695167707 | F8 | c.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 |
X | g.154860367G>T | CA2695167708 | F8 | c.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 |
X | g.154860368T>C | CA2695167709 | F8 | c.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 |
X | g.154860370A>T | CA2579752207 | F8 | c.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) | |
X | g.154860372G>A | CA873368134 | F8 | c.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 |
X | g.154860372G= | CA2466814946 | F8 | c.6900+60C= (n.6900+60C=) c.633+60C= (n.633+60C=) c.495+60C= (n.495+60C=) c.6795+60C= (n.6795+60C=) | |
X | g.154860372G>T | CA2579752208 | F8 | c.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 |
X | g.154860373C>T | CA2695167710 | F8 | c.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 |
X | g.154860375C= | CA2466814947 | F8 | c.6900+57G= (n.6900+57G=) c.633+57G= (n.633+57G=) c.495+57G= (n.495+57G=) c.6795+57G= (n.6795+57G=) | |
X | g.154860375C>G | CA1138598209 | F8 | c.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 |
X | g.154860376T>C | CA658560499 | F8 | c.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 |
X | g.154860376T>G | CA2579752209 | F8 | c.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) | |
X | g.154860377A>T | CA2579752210 | F8 | c.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) | |
X | g.154860378G>A | CA2579752211 | F8 | c.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) | |
X | g.154860379dup | CA2842820825 | F8 | c.6900+54dup (n.6900+54dup) c.633+54dup (n.633+54dup) c.495+54dup (n.495+54dup) c.6795+54dup (n.6795+54dup) | |
X | g.154860384G>A | CA2695167711 | F8 | c.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 |
X | g.154860384G>T | CA2579752212 | F8 | c.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 |
X | g.154860386G>T | CA2579752213 | F8 | c.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) | |
X | g.154860387G>A | CA2579752214 | F8 | c.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) | |
X | g.154860387G>T | CA2695167712 | F8 | c.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 |
X | g.154860387_154860390delinsGTAT | CA2466814948 | F8 | c.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) | |
X | g.154860388T>C | CA2842820826 | F8 | c.6900+44A>G (n.6900+44A>G) c.633+44A>G (n.633+44A>G) c.495+44A>G (n.495+44A>G) c.6795+44A>G (n.6795+44A>G) | |
X | g.154860388T>G | CA10567734 | F8 | c.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 |
X | g.154860388T= | CA2466814949 | F8 | c.6900+44A= (n.6900+44A=) c.633+44A= (n.633+44A=) c.495+44A= (n.495+44A=) c.6795+44A= (n.6795+44A=) | |
X | g.154860389_154860391del | CA10567733 | F8 | c.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 |
X | g.154860389A>T | CA2579752215 | F8 | c.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 |
X | g.154860389_154860390delinsAT | CA2466814950 | F8 | c.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) | |
X | g.154860390T>A | CA873368141 | F8 | c.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 |
X | g.154860390T>C | CA10567737 | F8 | c.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 |
X | g.154860390T= | CA2466814951 | F8 | c.6900+42A= (n.6900+42A=) c.633+42A= (n.633+42A=) c.495+42A= (n.495+42A=) c.6795+42A= (n.6795+42A=) | |
X | g.154860391_154860392insCTTT | CA2695167713 | F8 | c.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 |
X | g.154860397dup | CA10567735 | F8 | c.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 |
X | g.154860397del | CA10567736 | F8 | c.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 |
X | g.154860394_154860397del | CA2579752216 | F8 | c.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 |
X | g.154860393T>A | CA2579752217 | F8 | c.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 |
X | g.154860394T>C | CA10567740 | F8 | c.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 |
X | g.154860394T= | CA2466814953 | F8 | c.6900+38A= (n.6900+38A=) c.633+38A= (n.633+38A=) c.495+38A= (n.495+38A=) c.6795+38A= (n.6795+38A=) | |
X | g.154860394_154860398delinsTTTTC | CA2466814952 | F8 | c.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) | |
X | g.154860397_154860405del | CA2579752218 | F8 | c.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) | |
X | g.154860395_154860398delinsTTTC | CA2466814954 | F8 | c.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) | |
X | g.154860411_154860414dup | CA10567739 | F8 | c.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 |
X | g.154860407_154860414dup | CA10567741 | F8 | c.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 |
X | g.154860411_154860414del | CA10567738 | F8 | c.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 |
X | g.154860407_154860414del | CA2695167714 | F8 | c.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 |
X | g.154860398_154860400del | CA645238386 | F8 | c.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 |
X | g.154860397T>C | CA2579752219 | F8 | c.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) | |
X | g.154860397_154860398delinsTC | CA2466814955 | F8 | c.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) | |
X | g.154860398del | CA645238387 | F8 | c.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 |
X | g.154860398C= | CA2466814956 | F8 | c.6900+34G= (n.6900+34G=) c.633+34G= (n.633+34G=) c.495+34G= (n.495+34G=) c.6795+34G= (n.6795+34G=) | |
X | g.154860398C>T | CA10567742 | F8 | c.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 |
X | g.154860399T>C | CA1138598215 | F8 | c.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 |
X | g.154860399T= | CA2466814957 | F8 | c.6900+33A= (n.6900+33A=) c.633+33A= (n.633+33A=) c.495+33A= (n.495+33A=) c.6795+33A= (n.6795+33A=) | |
X | g.154860402_154860403insCTTC | CA2695167715 | F8 | c.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 |
X | g.154860402C= | CA2466814958 | F8 | c.6900+30G= (n.6900+30G=) c.633+30G= (n.633+30G=) c.495+30G= (n.495+30G=) c.6795+30G= (n.6795+30G=) | |
X | g.154860402C>T | CA10567743 | F8 | c.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 |
X | g.154860405T>A | CA10567744 | F8 | c.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 |
X | g.154860405T= | CA2466814959 | F8 | c.6900+27A= (n.6900+27A=) c.633+27A= (n.633+27A=) c.495+27A= (n.495+27A=) c.6795+27A= (n.6795+27A=) | |
X | g.154860406C= | CA2466814960 | F8 | c.6900+26G= (n.6900+26G=) c.633+26G= (n.633+26G=) c.495+26G= (n.495+26G=) c.6795+26G= (n.6795+26G=) | |
X | g.154860406C>G | CA2695167716 | F8 | c.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 |
X | g.154860406C>T | CA10567745 | F8 | c.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 |
X | g.154860410C= | CA2466814961 | F8 | c.6900+22G= (n.6900+22G=) c.633+22G= (n.633+22G=) c.495+22G= (n.495+22G=) c.6795+22G= (n.6795+22G=) | |
X | g.154860410C>T | CA10567746 | F8 | c.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 |
X | g.154860411T>C | CA873368174 | F8 | c.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 |
X | g.154860411T= | CA2466814963 | F8 | c.6900+21A= (n.6900+21A=) c.633+21A= (n.633+21A=) c.495+21A= (n.495+21A=) c.6795+21A= (n.6795+21A=) | |
X | g.154860411_154860415delinsTTTCC | CA2466814962 | F8 | c.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) | |
X | g.154860412_154860415del | CA10567747 | F8 | c.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 |
X | g.154860414C>A | CA2842820827 | F8 | c.6900+18G>T (n.6900+18G>T) c.633+18G>T (n.633+18G>T) c.495+18G>T (n.495+18G>T) c.6795+18G>T (n.6795+18G>T) | |
X | g.154860414C= | CA2466814964 | F8 | c.6900+18G= (n.6900+18G=) c.633+18G= (n.633+18G=) c.495+18G= (n.495+18G=) c.6795+18G= (n.6795+18G=) | |
X | g.154860414C>T | CA10567748 | F8 | c.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 |
X | g.154860416A= | CA2466814965 | F8 | c.6900+16T= (n.6900+16T=) c.633+16T= (n.633+16T=) c.495+16T= (n.495+16T=) c.6795+16T= (n.6795+16T=) | |
X | g.154860416A>G | CA10567749 | F8 | c.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 |
X | g.154860418G>A | CA10567750 | F8 | c.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 |
X | g.154860418G= | CA2466814966 | F8 | c.6900+14C= (n.6900+14C=) c.633+14C= (n.633+14C=) c.495+14C= (n.495+14C=) c.6795+14C= (n.6795+14C=) | |
X | g.154860419G>A | CA645238388 | F8 | c.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 |
X | g.154860419G>C | CA2695167717 | F8 | c.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 |
X | g.154860419G= | CA2466814967 | F8 | c.6900+13C= (n.6900+13C=) c.633+13C= (n.633+13C=) c.495+13C= (n.495+13C=) c.6795+13C= (n.6795+13C=) | |
X | g.154860421G>T | CA2695167718 | F8 | c.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 |
X | g.154860421_154860422delinsGA | CA2466814968 | F8 | c.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) | |
X | g.154860422del | CA2466814969 | F8 | c.6900+10del (n.6900+10del) c.633+10del (n.633+10del) c.495+10del (n.495+10del) c.6795+10del (n.6795+10del) | dbSNP |
X | g.154860422A= | CA2466814970 | F8 | c.6900+10T= (n.6900+10T=) c.633+10T= (n.633+10T=) c.495+10T= (n.495+10T=) c.6795+10T= (n.6795+10T=) | |
X | g.154860422A>T | CA645238389 | F8 | c.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 |
X | g.154860426G>A | CA2466814972 | F8 | c.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 |
X | g.154860426G>C | CA2466814973 | F8 | c.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 |
X | g.154860426G= | CA2466814971 | F8 | c.6900+6C= (n.6900+6C=) c.633+6C= (n.633+6C=) c.495+6C= (n.495+6C=) c.6795+6C= (n.6795+6C=) | |
X | g.154860430A>C | CA414902780 | F8 | c.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) | |
X | g.154860430A>G | CA414902781 | F8 | c.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) | |
X | g.154860430A>T | CA414902784 | F8 | c.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) | |
X | g.154860431C>A | CA414902799 | F8 | c.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) | |
X | g.154860431C= | CA2466814974 | F8 | c.6900+1G= (n.6900+1G=) c.633+1G= (n.633+1G=) c.495+1G= (n.495+1G=) c.6795+1G= (n.6795+1G=) | |
X | g.154860431C>G | CA414902802 | F8 | c.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 |
X | g.154860431C>T | CA414902808 | F8 | c.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 |
X | g.154860432C>A | CA414902814 | F8 | c.6900G>T (p.Lys2300Asn) c.633G>T (p.Lys211Asn) c.495G>T (p.Lys165Asn) c.6795G>T (p.Lys2265Asn) | |
X | g.154860432C>G | CA414902815 | F8 | c.6900G>C (p.Lys2300Asn) c.633G>C (p.Lys211Asn) c.495G>C (p.Lys165Asn) c.6795G>C (p.Lys2265Asn) | |
X | g.154860432C>T | CA519356028 | F8 | c.6900G>A (p.Lys2300=) c.633G>A (p.Lys211=) c.495G>A (p.Lys165=) c.6795G>A (p.Lys2265=) | gnomAD v4 |
X | g.154860433T>A | CA414902816 | F8 | c.6899A>T (p.Lys2300Met) c.632A>T (p.Lys211Met) c.494A>T (p.Lys165Met) c.6794A>T (p.Lys2265Met) | |
X | g.154860433T>C | CA10567751 | F8 | c.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 |
X | g.154860433T>G | CA414902821 | F8 | c.6899A>C (p.Lys2300Thr) c.632A>C (p.Lys211Thr) c.494A>C (p.Lys165Thr) c.6794A>C (p.Lys2265Thr) | |
X | g.154860433T= | CA2466814975 | F8 | c.6899A= (p.Lys2300=) c.632A= (p.Lys211=) c.494A= (p.Lys165=) c.6794A= (p.Lys2265=) | |
X | g.154860434_154860435dup | CA2695237119 | F8 | c.6898_6899dup (p.Val2301ArgfsTer14) c.631_632dup (p.Val212ArgfsTer14) c.493_494dup (p.Val166ArgfsTer14) c.6793_6794dup (p.Val2266ArgfsTer14) | |
X | g.154860434T>A | CA414902838 | F8 | c.6898A>T (p.Lys2300Ter) c.631A>T (p.Lys211Ter) c.493A>T (p.Lys165Ter) c.6793A>T (p.Lys2265Ter) | |
X | g.154860434T>C | CA414902843 | F8 | c.6898A>G (p.Lys2300Glu) c.631A>G (p.Lys211Glu) c.493A>G (p.Lys165Glu) c.6793A>G (p.Lys2265Glu) | |
X | g.154860434T>G | CA414902825 | F8 | c.6898A>C (p.Lys2300Gln) c.631A>C (p.Lys211Gln) c.493A>C (p.Lys165Gln) c.6793A>C (p.Lys2265Gln) | |
X | g.154860435T>A | CA519356034 | F8 | c.6897A>T (p.Val2299=) c.630A>T (p.Val210=) c.492A>T (p.Val164=) c.6792A>T (p.Val2264=) | |
X | g.154860435T>C | CA519356033 | F8 | c.6897A>G (p.Val2299=) c.630A>G (p.Val210=) c.492A>G (p.Val164=) c.6792A>G (p.Val2264=) | |
X | g.154860435T>G | CA519356032 | F8 | c.6897A>C (p.Val2299=) c.630A>C (p.Val210=) c.492A>C (p.Val164=) c.6792A>C (p.Val2264=) | |
X | g.154860436A>C | CA414902856 | F8 | c.6896T>G (p.Val2299Gly) c.629T>G (p.Val210Gly) c.491T>G (p.Val164Gly) c.6791T>G (p.Val2264Gly) | |
X | g.154860436A>G | CA414902847 | F8 | c.6896T>C (p.Val2299Ala) c.629T>C (p.Val210Ala) c.491T>C (p.Val164Ala) c.6791T>C (p.Val2264Ala) | |
X | g.154860436A>T | CA414902852 | F8 | c.6896T>A (p.Val2299Glu) c.629T>A (p.Val210Glu) c.491T>A (p.Val164Glu) c.6791T>A (p.Val2264Glu) | |
X | g.154860437C>A | CA414902859 | F8 | c.6895G>T (p.Val2299Leu) c.628G>T (p.Val210Leu) c.490G>T (p.Val164Leu) c.6790G>T (p.Val2264Leu) | |
X | g.154860437C>G | CA414902863 | F8 | c.6895G>C (p.Val2299Leu) c.628G>C (p.Val210Leu) c.490G>C (p.Val164Leu) c.6790G>C (p.Val2264Leu) | |
X | g.154860437C>T | CA414902864 | F8 | c.6895G>A (p.Val2299Ile) c.628G>A (p.Val210Ile) c.490G>A (p.Val164Ile) c.6790G>A (p.Val2264Ile) | |
X | g.154860437_154860438insGTT | CA2695237121 | F8 | c.6894_6895insAAC (p.Lys2298_Val2299insAsn) c.627_628insAAC (p.Lys209_Val210insAsn) c.489_490insAAC (p.Lys163_Val164insAsn) c.6789_6790insAAC (p.Lys2263_Val2264insAsn) | |
X | g.154860438T>A | CA414902867 | F8 | c.6894A>T (p.Lys2298Asn) c.627A>T (p.Lys209Asn) c.489A>T (p.Lys163Asn) c.6789A>T (p.Lys2263Asn) | |
X | g.154860438T>C | CA519356035 | F8 | c.6894A>G (p.Lys2298=) c.627A>G (p.Lys209=) c.489A>G (p.Lys163=) c.6789A>G (p.Lys2263=) | |
X | g.154860438T>G | CA414902870 | F8 | c.6894A>C (p.Lys2298Asn) c.627A>C (p.Lys209Asn) c.489A>C (p.Lys163Asn) c.6789A>C (p.Lys2263Asn) | |
X | g.154860440del | CA2695237120 | F8 | c.6894del (p.Val2299Ter) c.627del (p.Val210Ter) c.489del (p.Val164Ter) c.6789del (p.Val2264Ter) | |
X | g.154860439T>A | CA414902887 | F8 | c.6893A>T (p.Lys2298Ile) c.626A>T (p.Lys209Ile) c.488A>T (p.Lys163Ile) c.6788A>T (p.Lys2263Ile) | |
X | g.154860439T>C | CA414902893 | F8 | c.6893A>G (p.Lys2298Arg) c.626A>G (p.Lys209Arg) c.488A>G (p.Lys163Arg) c.6788A>G (p.Lys2263Arg) | |
X | g.154860439T>G | CA414902897 | F8 | c.6893A>C (p.Lys2298Thr) c.626A>C (p.Lys209Thr) c.488A>C (p.Lys163Thr) c.6788A>C (p.Lys2263Thr) | |
X | g.154860440T>A | CA414902904 | F8 | c.6892A>T (p.Lys2298Ter) c.625A>T (p.Lys209Ter) c.487A>T (p.Lys163Ter) c.6787A>T (p.Lys2263Ter) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860440T>C | CA414902908 | F8 | c.6892A>G (p.Lys2298Glu) c.625A>G (p.Lys209Glu) c.487A>G (p.Lys163Glu) c.6787A>G (p.Lys2263Glu) | |
X | g.154860440T>G | CA414902915 | F8 | c.6892A>C (p.Lys2298Gln) c.625A>C (p.Lys209Gln) c.487A>C (p.Lys163Gln) c.6787A>C (p.Lys2263Gln) | |
X | g.154860440T= | CA2466814976 | F8 | c.6892A= (p.Lys2298=) c.625A= (p.Lys209=) c.487A= (p.Lys163=) c.6787A= (p.Lys2263=) | |
X | g.154860441G>A | CA519356037 | F8 | c.6891C>T (p.Gly2297=) c.624C>T (p.Gly208=) c.486C>T (p.Gly162=) c.6786C>T (p.Gly2262=) | |
X | g.154860441G>C | CA519356039 | F8 | c.6891C>G (p.Gly2297=) c.624C>G (p.Gly208=) c.486C>G (p.Gly162=) c.6786C>G (p.Gly2262=) | |
X | g.154860441G>T | CA519356038 | F8 | c.6891C>A (p.Gly2297=) c.624C>A (p.Gly208=) c.486C>A (p.Gly162=) c.6786C>A (p.Gly2262=) | gnomAD v4 |
X | g.154860442C>A | CA414902921 | F8 | c.6890G>T (p.Gly2297Val) c.623G>T (p.Gly208Val) c.485G>T (p.Gly162Val) c.6785G>T (p.Gly2262Val) | |
X | g.154860442C>G | CA414902925 | F8 | c.6890G>C (p.Gly2297Ala) c.623G>C (p.Gly208Ala) c.485G>C (p.Gly162Ala) c.6785G>C (p.Gly2262Ala) | |
X | g.154860442C>T | CA414902922 | F8 | c.6890G>A (p.Gly2297Asp) c.623G>A (p.Gly208Asp) c.485G>A (p.Gly162Asp) c.6785G>A (p.Gly2262Asp) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154860443dup | CA2842820828 | F8 | c.6890dup (p.Lys2298GlnfsTer?) c.623dup (p.Lys209GlnfsTer?) c.485dup (p.Lys163GlnfsTer?) c.6785dup (p.Lys2263GlnfsTer?) | |
X | g.154860443C>A | CA414902930 | F8 | c.6889G>T (p.Gly2297Cys) c.622G>T (p.Gly208Cys) c.484G>T (p.Gly162Cys) c.6784G>T (p.Gly2262Cys) | COSMIC COSMIC |
X | g.154860443C= | CA2466814977 | F8 | c.6889G= (p.Gly2297=) c.622G= (p.Gly208=) c.484G= (p.Gly162=) c.6784G= (p.Gly2262=) | |
X | g.154860443C>G | CA414902941 | F8 | c.6889G>C (p.Gly2297Arg) c.622G>C (p.Gly208Arg) c.484G>C (p.Gly162Arg) c.6784G>C (p.Gly2262Arg) | |
X | g.154860443C>T | CA414902942 | F8 | c.6889G>A (p.Gly2297Ser) c.622G>A (p.Gly208Ser) c.484G>A (p.Gly162Ser) c.6784G>A (p.Gly2262Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154860444A= | CA2466814978 | F8 | c.6888T= (p.Asn2296=) c.621T= (p.Asn207=) c.483T= (p.Asn161=) c.6783T= (p.Asn2261=) | |
X | g.154860444A>C | CA414902944 | F8 | c.6888T>G (p.Asn2296Lys) c.621T>G (p.Asn207Lys) c.483T>G (p.Asn161Lys) c.6783T>G (p.Asn2261Lys) | dbSNP gnomAD v4 |
X | g.154860444A>G | CA10567752 | F8 | c.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 |
X | g.154860444A>T | CA414902950 | F8 | c.6888T>A (p.Asn2296Lys) c.621T>A (p.Asn207Lys) c.483T>A (p.Asn161Lys) c.6783T>A (p.Asn2261Lys) | |
X | g.154860445T>A | CA414902956 | F8 | c.6887A>T (p.Asn2296Ile) c.620A>T (p.Asn207Ile) c.482A>T (p.Asn161Ile) c.6782A>T (p.Asn2261Ile) | |
X | g.154860445T>C | CA414902959 | F8 | c.6887A>G (p.Asn2296Ser) c.620A>G (p.Asn207Ser) c.482A>G (p.Asn161Ser) c.6782A>G (p.Asn2261Ser) | |
X | g.154860445T>G | CA414902960 | F8 | c.6887A>C (p.Asn2296Thr) c.620A>C (p.Asn207Thr) c.482A>C (p.Asn161Thr) c.6782A>C (p.Asn2261Thr) | |
X | g.154860446del | CA2695237122 | F8 | c.6887del (p.Asn2296MetfsTer4) c.620del (p.Asn207MetfsTer4) c.482del (p.Asn161MetfsTer4) c.6782del (p.Asn2261MetfsTer4) | |
X | g.154860446T>A | CA414902983 | F8 | c.6886A>T (p.Asn2296Tyr) c.619A>T (p.Asn207Tyr) c.481A>T (p.Asn161Tyr) c.6781A>T (p.Asn2261Tyr) | |
X | g.154860446T>C | CA414902971 | F8 | c.6886A>G (p.Asn2296Asp) c.619A>G (p.Asn207Asp) c.481A>G (p.Asn161Asp) c.6781A>G (p.Asn2261Asp) | |
X | g.154860446T>G | CA414902963 | F8 | c.6886A>C (p.Asn2296His) c.619A>C (p.Asn207His) c.481A>C (p.Asn161His) c.6781A>C (p.Asn2261His) | |
X | g.154860447C>A | CA414902985 | F8 | c.6885G>T (p.Gln2295His) c.618G>T (p.Gln206His) c.480G>T (p.Gln160His) c.6780G>T (p.Gln2260His) | |
X | g.154860447C>G | CA414902986 | F8 | c.6885G>C (p.Gln2295His) c.618G>C (p.Gln206His) c.480G>C (p.Gln160His) c.6780G>C (p.Gln2260His) | |
X | g.154860447C>T | CA519356044 | F8 | c.6885G>A (p.Gln2295=) c.618G>A (p.Gln206=) c.480G>A (p.Gln160=) c.6780G>A (p.Gln2260=) | |
X | g.154860448T>A | CA414902991 | F8 | c.6884A>T (p.Gln2295Leu) c.617A>T (p.Gln206Leu) c.479A>T (p.Gln160Leu) c.6779A>T (p.Gln2260Leu) | |
X | g.154860448T>C | CA414902997 | F8 | c.6884A>G (p.Gln2295Arg) c.617A>G (p.Gln206Arg) c.479A>G (p.Gln160Arg) c.6779A>G (p.Gln2260Arg) | gnomAD v4 |
X | g.154860448T>G | CA414903008 | F8 | c.6884A>C (p.Gln2295Pro) c.617A>C (p.Gln206Pro) c.479A>C (p.Gln160Pro) c.6779A>C (p.Gln2260Pro) | |
X | g.154860449G>A | CA414903015 | F8 | c.6883C>T (p.Gln2295Ter) c.616C>T (p.Gln206Ter) c.478C>T (p.Gln160Ter) c.6778C>T (p.Gln2260Ter) | COSMIC COSMIC |
X | g.154860449G>C | CA414903021 | F8 | c.6883C>G (p.Gln2295Glu) c.616C>G (p.Gln206Glu) c.478C>G (p.Gln160Glu) c.6778C>G (p.Gln2260Glu) | |
X | g.154860449G>T | CA414903028 | F8 | c.6883C>A (p.Gln2295Lys) c.616C>A (p.Gln206Lys) c.478C>A (p.Gln160Lys) c.6778C>A (p.Gln2260Lys) | |
X | g.154860449_154860453delinsGAAAA | CA2466814979 | F8 | c.6879_6883delinsTTTTC (p.Phe2293=) c.612_616delinsTTTTC (p.Phe204=) c.474_478delinsTTTTC (p.Phe158=) c.6774_6778delinsTTTTC (p.Phe2258=) | |
X | g.154860450A>C | CA414903037 | F8 | c.6882T>G (p.Phe2294Leu) c.615T>G (p.Phe205Leu) c.477T>G (p.Phe159Leu) c.6777T>G (p.Phe2259Leu) | |
X | g.154860450A>G | CA519356045 | F8 | c.6882T>C (p.Phe2294=) c.615T>C (p.Phe205=) c.477T>C (p.Phe159=) c.6777T>C (p.Phe2259=) | |
X | g.154860450A>T | CA414903038 | F8 | c.6882T>A (p.Phe2294Leu) c.615T>A (p.Phe205Leu) c.477T>A (p.Phe159Leu) c.6777T>A (p.Phe2259Leu) | |
X | g.154860455dup | CA2695237123 | F8 | c.6882dup (p.Gln2295SerfsTer?) c.615dup (p.Gln206SerfsTer?) c.477dup (p.Gln160SerfsTer?) c.6777dup (p.Gln2260SerfsTer?) | |
X | g.154860455del | CA2695237124 | F8 | c.6882del (p.Gln2295ArgfsTer5) c.615del (p.Gln206ArgfsTer5) c.477del (p.Gln160ArgfsTer5) c.6777del (p.Gln2260ArgfsTer5) | |
X | g.154860454_154860455del | CA2695237125 | F8 | c.6881_6882del (p.Phe2294SerfsTer?) c.614_615del (p.Phe205SerfsTer?) c.476_477del (p.Phe159SerfsTer?) c.6776_6777del (p.Phe2259SerfsTer?) | |
X | g.154860452_154860455del | CA2466814980 | F8 | c.6879_6882del (p.Phe2294ArgfsTer5) c.612_615del (p.Phe205ArgfsTer5) c.474_477del (p.Phe159ArgfsTer5) c.6774_6777del (p.Phe2259ArgfsTer5) | dbSNP |
X | g.154860451A>C | CA414903040 | F8 | c.6881T>G (p.Phe2294Cys) c.614T>G (p.Phe205Cys) c.476T>G (p.Phe159Cys) c.6776T>G (p.Phe2259Cys) | |
X | g.154860451A>G | CA414903043 | F8 | c.6881T>C (p.Phe2294Ser) c.614T>C (p.Phe205Ser) c.476T>C (p.Phe159Ser) c.6776T>C (p.Phe2259Ser) | |
X | g.154860451A>T | CA414903046 | F8 | c.6881T>A (p.Phe2294Tyr) c.614T>A (p.Phe205Tyr) c.476T>A (p.Phe159Tyr) c.6776T>A (p.Phe2259Tyr) | |
X | g.154860452A>C | CA414903050 | F8 | c.6880T>G (p.Phe2294Val) c.613T>G (p.Phe205Val) c.475T>G (p.Phe159Val) c.6775T>G (p.Phe2259Val) | |
X | g.154860452A>G | CA414903059 | F8 | c.6880T>C (p.Phe2294Leu) c.613T>C (p.Phe205Leu) c.475T>C (p.Phe159Leu) c.6775T>C (p.Phe2259Leu) | |
X | g.154860452A>T | CA414903055 | F8 | c.6880T>A (p.Phe2294Ile) c.613T>A (p.Phe205Ile) c.475T>A (p.Phe159Ile) c.6775T>A (p.Phe2259Ile) | |
X | g.154860453A>C | CA414903070 | F8 | c.6879T>G (p.Phe2293Leu) c.612T>G (p.Phe204Leu) c.474T>G (p.Phe158Leu) c.6774T>G (p.Phe2258Leu) | |
X | g.154860453A>G | CA519356047 | F8 | c.6879T>C (p.Phe2293=) c.612T>C (p.Phe204=) c.474T>C (p.Phe158=) c.6774T>C (p.Phe2258=) | |
X | g.154860453A>T | CA414903076 | F8 | c.6879T>A (p.Phe2293Leu) c.612T>A (p.Phe204Leu) c.474T>A (p.Phe158Leu) c.6774T>A (p.Phe2258Leu) | |
X | g.154860454A>C | CA414903083 | F8 | c.6878T>G (p.Phe2293Cys) c.611T>G (p.Phe204Cys) c.473T>G (p.Phe158Cys) c.6773T>G (p.Phe2258Cys) | gnomAD v4 |
X | g.154860454A>G | CA414903086 | F8 | c.6878T>C (p.Phe2293Ser) c.611T>C (p.Phe204Ser) c.473T>C (p.Phe158Ser) c.6773T>C (p.Phe2258Ser) | |
X | g.154860454A>T | CA414903090 | F8 | c.6878T>A (p.Phe2293Tyr) c.611T>A (p.Phe204Tyr) c.473T>A (p.Phe158Tyr) c.6773T>A (p.Phe2258Tyr) | |
X | g.154860454_154860456delinsAAG | CA2466814981 | F8 | c.6876_6878delinsCTT (p.Leu2292=) c.609_611delinsCTT (p.Leu203=) c.471_473delinsCTT (p.Leu157=) c.6771_6773delinsCTT (p.Leu2257=) | |
X | g.154860455A>C | CA414903091 | F8 | c.6877T>G (p.Phe2293Val) c.610T>G (p.Phe204Val) c.472T>G (p.Phe158Val) c.6772T>G (p.Phe2258Val) | |
X | g.154860455A>G | CA414903092 | F8 | c.6877T>C (p.Phe2293Leu) c.610T>C (p.Phe204Leu) c.472T>C (p.Phe158Leu) c.6772T>C (p.Phe2258Leu) | |
X | g.154860455A>T | CA414903094 | F8 | c.6877T>A (p.Phe2293Ile) c.610T>A (p.Phe204Ile) c.472T>A (p.Phe158Ile) c.6772T>A (p.Phe2258Ile) | |
X | g.154860459_154860460del | CA873368227 | F8 | c.6876_6877del (p.Phe2294SerfsTer?) c.609_610del (p.Phe205SerfsTer?) c.471_472del (p.Phe159SerfsTer?) c.6771_6772del (p.Phe2259SerfsTer?) | ClinVar dbSNP |
X | g.154860456G>A | CA519356049 | F8 | c.6876C>T (p.Leu2292=) c.609C>T (p.Leu203=) c.471C>T (p.Leu157=) c.6771C>T (p.Leu2257=) | gnomAD v4 |
X | g.154860456G>C | CA519356051 | F8 | c.6876C>G (p.Leu2292=) c.609C>G (p.Leu203=) c.471C>G (p.Leu157=) c.6771C>G (p.Leu2257=) | dbSNP |
X | g.154860456G= | CA2466814982 | F8 | c.6876C= (p.Leu2292=) c.609C= (p.Leu203=) c.471C= (p.Leu157=) c.6771C= (p.Leu2257=) | |
X | g.154860456G>T | CA519356050 | F8 | c.6876C>A (p.Leu2292=) c.609C>A (p.Leu203=) c.471C>A (p.Leu157=) c.6771C>A (p.Leu2257=) | |
X | g.154860457A>C | CA414903100 | F8 | c.6875T>G (p.Leu2292Arg) c.608T>G (p.Leu203Arg) c.470T>G (p.Leu157Arg) c.6770T>G (p.Leu2257Arg) | |
X | g.154860457A>G | CA414903103 | F8 | c.6875T>C (p.Leu2292Pro) c.608T>C (p.Leu203Pro) c.470T>C (p.Leu157Pro) c.6770T>C (p.Leu2257Pro) | |
X | g.154860457A>T | CA414903106 | F8 | c.6875T>A (p.Leu2292His) c.608T>A (p.Leu203His) c.470T>A (p.Leu157His) c.6770T>A (p.Leu2257His) | |
X | g.154860458G>A | CA414903125 | F8 | c.6874C>T (p.Leu2292Phe) c.607C>T (p.Leu203Phe) c.469C>T (p.Leu157Phe) c.6769C>T (p.Leu2257Phe) | |
X | g.154860458G>C | CA414903127 | F8 | c.6874C>G (p.Leu2292Val) c.607C>G (p.Leu203Val) c.469C>G (p.Leu157Val) c.6769C>G (p.Leu2257Val) | gnomAD v4 |
X | g.154860458G>T | CA414903120 | F8 | c.6874C>A (p.Leu2292Ile) c.607C>A (p.Leu203Ile) c.469C>A (p.Leu157Ile) c.6769C>A (p.Leu2257Ile) | |
X | g.154860459A>C | CA519356053 | F8 | c.6873T>G (p.Thr2291=) c.606T>G (p.Thr202=) c.468T>G (p.Thr156=) c.6768T>G (p.Thr2256=) | |
X | g.154860459A>G | CA519356054 | F8 | c.6873T>C (p.Thr2291=) c.606T>C (p.Thr202=) c.468T>C (p.Thr156=) c.6768T>C (p.Thr2256=) | |
X | g.154860459A>T | CA519356055 | F8 | c.6873T>A (p.Thr2291=) c.606T>A (p.Thr202=) c.468T>A (p.Thr156=) c.6768T>A (p.Thr2256=) | |
X | g.154860460G>A | CA414903134 | F8 | c.6872C>T (p.Thr2291Ile) c.605C>T (p.Thr202Ile) c.467C>T (p.Thr156Ile) c.6767C>T (p.Thr2256Ile) | |
X | g.154860460G>C | CA414903130 | F8 | c.6872C>G (p.Thr2291Ser) c.605C>G (p.Thr202Ser) c.467C>G (p.Thr156Ser) c.6767C>G (p.Thr2256Ser) | |
X | g.154860460G>T | CA414903137 | F8 | c.6872C>A (p.Thr2291Asn) c.605C>A (p.Thr202Asn) c.467C>A (p.Thr156Asn) c.6767C>A (p.Thr2256Asn) | |
X | g.154860461T>A | CA414903141 | F8 | c.6871A>T (p.Thr2291Ser) c.604A>T (p.Thr202Ser) c.466A>T (p.Thr156Ser) c.6766A>T (p.Thr2256Ser) | |
X | g.154860461T>C | CA10567753 | F8 | c.6871A>G (p.Thr2291Ala) c.604A>G (p.Thr202Ala) c.466A>G (p.Thr156Ala) c.6766A>G (p.Thr2256Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154860461T>G | CA414903144 | F8 | c.6871A>C (p.Thr2291Pro) c.604A>C (p.Thr202Pro) c.466A>C (p.Thr156Pro) c.6766A>C (p.Thr2256Pro) | |
X | g.154860461T= | CA2466814983 | F8 | c.6871A= (p.Thr2291=) c.604A= (p.Thr202=) c.466A= (p.Thr156=) c.6766A= (p.Thr2256=) | |
X | g.154860462C>A | CA414903147 | F8 | c.6870G>T (p.Trp2290Cys) c.603G>T (p.Trp201Cys) c.465G>T (p.Trp155Cys) c.6765G>T (p.Trp2255Cys) | |
X | g.154860462C>G | CA414903150 | F8 | c.6870G>C (p.Trp2290Cys) c.603G>C (p.Trp201Cys) c.465G>C (p.Trp155Cys) c.6765G>C (p.Trp2255Cys) | |
X | g.154860462C>T | CA414903151 | F8 | c.6870G>A (p.Trp2290Ter) c.603G>A (p.Trp201Ter) c.465G>A (p.Trp155Ter) c.6765G>A (p.Trp2255Ter) | |
X | g.154860463C>A | CA414903154 | F8 | c.6869G>T (p.Trp2290Leu) c.602G>T (p.Trp201Leu) c.464G>T (p.Trp155Leu) c.6764G>T (p.Trp2255Leu) | |
X | g.154860463C>G | CA414903157 | F8 | c.6869G>C (p.Trp2290Ser) c.602G>C (p.Trp201Ser) c.464G>C (p.Trp155Ser) c.6764G>C (p.Trp2255Ser) | |
X | g.154860463C>T | CA414903162 | F8 | c.6869G>A (p.Trp2290Ter) c.602G>A (p.Trp201Ter) c.464G>A (p.Trp155Ter) c.6764G>A (p.Trp2255Ter) | |
X | g.154860464A= | CA2466814984 | F8 | c.6868T= (p.Trp2290=) c.601T= (p.Trp201=) c.463T= (p.Trp155=) c.6763T= (p.Trp2255=) | |
X | g.154860464A>C | CA414903172 | F8 | c.6868T>G (p.Trp2290Gly) c.601T>G (p.Trp201Gly) c.463T>G (p.Trp155Gly) c.6763T>G (p.Trp2255Gly) | |
X | g.154860464A>G | CA414903181 | F8 | c.6868T>C (p.Trp2290Arg) c.601T>C (p.Trp201Arg) c.463T>C (p.Trp155Arg) c.6763T>C (p.Trp2255Arg) | ClinVar dbSNP |
X | g.154860464A>T | CA414903186 | F8 | c.6868T>A (p.Trp2290Arg) c.601T>A (p.Trp201Arg) c.463T>A (p.Trp155Arg) c.6763T>A (p.Trp2255Arg) |