X | g.68829757_68829764dup | CA2693969601 | EFNB1 | c.-20_-13dup (n.-20_-13dup)
| gnomAD v4 |
X | g.68829763C>A | CA2693969606 | EFNB1 | c.-14C>A (n.-14C>A)
| gnomAD v4 |
X | g.68829764T>C | CA2693969607 | EFNB1 | c.-13T>C (n.-13T>C)
| gnomAD v4 |
X | g.68829765del | CA2693969608 | EFNB1 | c.-12del (n.-12del)
| gnomAD v4 |
X | g.68829765G>A | CA2435560608 | EFNB1 | c.-12G>A (n.-12G>A)
| dbSNP gnomAD v4 |
X | g.68829765G= | CA2435560607 | EFNB1 | c.-12G= (n.-12G=)
| |
X | g.68829765G>T | CA2693969609 | EFNB1 | c.-12G>T (n.-12G>T)
| gnomAD v4 |
X | g.68829765_68829766delinsGC | CA2435560606 | EFNB1 | c.-12_-11delinsGC (n.-12_-11delinsGC)
| |
X | g.68829766C>A | CA2693969611 | EFNB1 | c.-11C>A (n.-11C>A)
| gnomAD v4 |
X | g.68829766C>T | CA2693969612 | EFNB1 | c.-11C>T (n.-11C>T)
| gnomAD v4 |
X | g.68829770dup | CA2693969610 | EFNB1 | c.-7dup (n.-7dup)
| gnomAD v4 |
X | g.68829770del | CA10438089 | EFNB1 | c.-7del (n.-7del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829767C>A | CA2693969613 | EFNB1 | c.-10C>A (n.-10C>A)
| gnomAD v4 |
X | g.68829767C= | CA2435560609 | EFNB1 | c.-10C= (n.-10C=)
| |
X | g.68829767C>T | CA642410750 | EFNB1 | c.-10C>T (n.-10C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829768C>A | CA2693969614 | EFNB1 | c.-9C>A (n.-9C>A)
| gnomAD v4 |
X | g.68829768C= | CA2435560610 | EFNB1 | c.-9C= (n.-9C=)
| |
X | g.68829768C>T | CA642410751 | EFNB1 | c.-9C>T (n.-9C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829770C>A | CA2693969615 | EFNB1 | c.-7C>A (n.-7C>A)
| gnomAD v4 |
X | g.68829770C= | CA2435560611 | EFNB1 | c.-7C= (n.-7C=)
| |
X | g.68829770C>T | CA10438090 | EFNB1 | c.-7C>T (n.-7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829771G>A | CA10438091 | EFNB1 | c.-6G>A (n.-6G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829771G>C | CA2693969618 | EFNB1 | c.-6G>C (n.-6G>C)
| gnomAD v4 |
X | g.68829771G= | CA2435560612 | EFNB1 | c.-6G= (n.-6G=)
| |
X | g.68829771G>T | CA2693969616 | EFNB1 | c.-6G>T (n.-6G>T)
| gnomAD v4 |
X | g.68829773dup | CA2693969617 | EFNB1 | c.-4dup (n.-4dup)
| gnomAD v4 |
X | g.68829773_68829780del | CA2695234403 | EFNB1 | c.-4_4del
| |
X | g.68829772G>T | CA2693969619 | EFNB1 | c.-5G>T (n.-5G>T)
| gnomAD v4 |
X | g.68829773G>A | CA642410757 | EFNB1 | c.-4G>A (n.-4G>A)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829773G= | CA2435560613 | EFNB1 | c.-4G= (n.-4G=)
| |
X | g.68829773G>T | CA2693969620 | EFNB1 | c.-4G>T (n.-4G>T)
| gnomAD v4 |
X | g.68829774A>G | CA2693969621 | EFNB1 | c.-3A>G (n.-3A>G)
| gnomAD v4 |
X | g.68829775A= | CA2435560614 | EFNB1 | c.-2A= (n.-2A=)
| |
X | g.68829775A>G | CA642410759 | EFNB1 | c.-2A>G (n.-2A>G)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829776G>A | CA877662030 | EFNB1 | c.-1G>A (n.-1G>A)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.68829776G= | CA2435560615 | EFNB1 | c.-1G= (n.-1G=)
| |
X | g.68829776G>T | CA2693969622 | EFNB1 | c.-1G>T (n.-1G>T)
| gnomAD v4 |
X | g.68829777A>C | CA413436966 | EFNB1 | c.1A>C (p.Met1Leu)
| |
X | g.68829777A>G | CA413436967 | EFNB1 | c.1A>G (p.Met1Val)
| gnomAD v4 |
X | g.68829777A>T | CA413436968 | EFNB1 | c.1A>T (p.Met1Leu)
| |
X | g.68829778T>A | CA413436969 | EFNB1 | c.2T>A (p.Met1Lys)
| |
X | g.68829778T>C | CA413436970 | EFNB1 | c.2T>C (p.Met1Thr)
| |
X | g.68829778T>G | CA413436971 | EFNB1 | c.2T>G (p.Met1Arg)
| |
X | g.68829779G>A | CA413436972 | EFNB1 | c.3G>A (p.Met1Ile)
| gnomAD v4 |
X | g.68829779G>C | CA413436973 | EFNB1 | c.3G>C (p.Met1Ile)
| |
X | g.68829779G>T | CA413436974 | EFNB1 | c.3G>T (p.Met1Ile)
| |
X | g.68829780G>A | CA413436975 | EFNB1 | c.4G>A (p.Ala2Thr)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829780G>C | CA413436976 | EFNB1 | c.4G>C (p.Ala2Pro)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.68829780G= | CA2435560616 | EFNB1 | c.4G= (p.Ala2=)
| |
X | g.68829780G>T | CA413436977 | EFNB1 | c.4G>T (p.Ala2Ser)
| gnomAD v4 |
X | g.68829781C>A | CA413436978 | EFNB1 | c.5C>A (p.Ala2Asp)
| gnomAD v4 |
X | g.68829781C= | CA2435560617 | EFNB1 | c.5C= (p.Ala2=)
| |
X | g.68829781C>G | CA413436980 | EFNB1 | c.5C>G (p.Ala2Gly)
| gnomAD v4 |
X | g.68829781C>T | CA10438092 | EFNB1 | c.5C>T (p.Ala2Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829782T>A | CA516988505 | EFNB1 | c.6T>A (p.Ala2=)
| |
X | g.68829782T>C | CA516988506 | EFNB1 | c.6T>C (p.Ala2=)
| |
X | g.68829782T>G | CA516988507 | EFNB1 | c.6T>G (p.Ala2=)
| |
X | g.68829783C>A | CA516988508 | EFNB1 | c.7C>A (p.Arg3=)
| gnomAD v4 |
X | g.68829783C= | CA2435560618 | EFNB1 | c.7C= (p.Arg3=)
| |
X | g.68829783C>G | CA413436981 | EFNB1 | c.7C>G (p.Arg3Gly)
| |
X | g.68829783C>T | CA10438093 | EFNB1 | c.7C>T (p.Arg3Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829784G>A | CA413436982 | EFNB1 | c.8G>A (p.Arg3Gln)
| gnomAD v4 |
X | g.68829784G>C | CA10438094 | EFNB1 | c.8G>C (p.Arg3Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829784G= | CA2435560619 | EFNB1 | c.8G= (p.Arg3=)
| |
X | g.68829784G>T | CA413436983 | EFNB1 | c.8G>T (p.Arg3Leu)
| gnomAD v4 |
X | g.68829785G>A | CA516988509 | EFNB1 | c.9G>A (p.Arg3=)
| gnomAD v4 |
X | g.68829785G>C | CA516988510 | EFNB1 | c.9G>C (p.Arg3=)
| |
X | g.68829785G>T | CA516988511 | EFNB1 | c.9G>T (p.Arg3=)
| gnomAD v4 |
X | g.68829786C>A | CA413436984 | EFNB1 | c.10C>A (p.Pro4Thr)
| gnomAD v4 |
X | g.68829786C= | CA2435560620 | EFNB1 | c.10C= (p.Pro4=)
| |
X | g.68829786C>G | CA413436985 | EFNB1 | c.10C>G (p.Pro4Ala)
| |
X | g.68829786C>T | CA330857229 | EFNB1 | c.10C>T (p.Pro4Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829787C>A | CA413436986 | EFNB1 | c.11C>A (p.Pro4His)
| gnomAD v4 |
X | g.68829787C>G | CA413436987 | EFNB1 | c.11C>G (p.Pro4Arg)
| |
X | g.68829787C>T | CA413436988 | EFNB1 | c.11C>T (p.Pro4Leu)
| gnomAD v4 |
X | g.68829788T>A | CA10438095 | EFNB1 | c.12T>A (p.Pro4=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829788T>C | CA516988513 | EFNB1 | c.12T>C (p.Pro4=)
| |
X | g.68829788T>G | CA516988514 | EFNB1 | c.12T>G (p.Pro4=)
| |
X | g.68829788T= | CA2435560621 | EFNB1 | c.12T= (p.Pro4=)
| |
X | g.68829789G>A | CA413436991 | EFNB1 | c.13G>A (p.Gly5Arg)
| gnomAD v4 |
X | g.68829789G>C | CA413436990 | EFNB1 | c.13G>C (p.Gly5Arg)
| |
X | g.68829789G>T | CA413436989 | EFNB1 | c.13G>T (p.Gly5Trp)
| gnomAD v4 |
X | g.68829790G>A | CA413436992 | EFNB1 | c.14G>A (p.Gly5Glu)
| |
X | g.68829790G>C | CA413436993 | EFNB1 | c.14G>C (p.Gly5Ala)
| |
X | g.68829790G>T | CA413436994 | EFNB1 | c.14G>T (p.Gly5Val)
| gnomAD v4 |
X | g.68829791G>A | CA516988516 | EFNB1 | c.15G>A (p.Gly5=)
| gnomAD v4 |
X | g.68829791G>C | CA516988517 | EFNB1 | c.15G>C (p.Gly5=)
| |
X | g.68829791G>T | CA516988518 | EFNB1 | c.15G>T (p.Gly5=)
| gnomAD v4 |
X | g.68829792C>A | CA413436995 | EFNB1 | c.16C>A (p.Gln6Lys)
| gnomAD v4 |
X | g.68829792C>G | CA413436996 | EFNB1 | c.16C>G (p.Gln6Glu)
| |
X | g.68829792C>T | CA413436997 | EFNB1 | c.16C>T (p.Gln6Ter)
| |
X | g.68829793A>C | CA413436998 | EFNB1 | c.17A>C (p.Gln6Pro)
| |
X | g.68829793A>G | CA413436999 | EFNB1 | c.17A>G (p.Gln6Arg)
| gnomAD v4 |
X | g.68829793A>T | CA413437000 | EFNB1 | c.17A>T (p.Gln6Leu)
| |
X | g.68829794G>A | CA10438096 | EFNB1 | c.18G>A (p.Gln6=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829794G>C | CA413437001 | EFNB1 | c.18G>C (p.Gln6His)
| |
X | g.68829794G= | CA2435560622 | EFNB1 | c.18G= (p.Gln6=)
| |
X | g.68829794G>T | CA413437002 | EFNB1 | c.18G>T (p.Gln6His)
| gnomAD v4 |
X | g.68829795C>A | CA413437003 | EFNB1 | c.19C>A (p.Arg7Ser)
| gnomAD v4 |
X | g.68829795C= | CA2435560623 | EFNB1 | c.19C= (p.Arg7=)
| |
X | g.68829795C>G | CA413437005 | EFNB1 | c.19C>G (p.Arg7Gly)
| |
X | g.68829795C>T | CA413437004 | EFNB1 | c.19C>T (p.Arg7Cys)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829796G>A | CA330857230 | EFNB1 | c.20G>A (p.Arg7His)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829796G>C | CA413437007 | EFNB1 | c.20G>C (p.Arg7Pro)
| |
X | g.68829796G= | CA2435560624 | EFNB1 | c.20G= (p.Arg7=)
| |
X | g.68829796G>T | CA413437006 | EFNB1 | c.20G>T (p.Arg7Leu)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.68829797T>A | CA516988519 | EFNB1 | c.21T>A (p.Arg7=)
| |
X | g.68829797T>C | CA516988520 | EFNB1 | c.21T>C (p.Arg7=)
| |
X | g.68829797T>G | CA516988521 | EFNB1 | c.21T>G (p.Arg7=)
| |
X | g.68829798T>A | CA413437008 | EFNB1 | c.22T>A (p.Trp8Arg)
| |
X | g.68829798T>C | CA413437010 | EFNB1 | c.22T>C (p.Trp8Arg)
| dbSNP |
X | g.68829798T>G | CA413437009 | EFNB1 | c.22T>G (p.Trp8Gly)
| |
X | g.68829798T= | CA2435560625 | EFNB1 | c.22T= (p.Trp8=)
| |
X | g.68829799G>A | CA413437011 | EFNB1 | c.23G>A (p.Trp8Ter)
| gnomAD v4 |
X | g.68829799G>C | CA413437013 | EFNB1 | c.23G>C (p.Trp8Ser)
| |
X | g.68829799G>T | CA413437012 | EFNB1 | c.23G>T (p.Trp8Leu)
| gnomAD v4 |
X | g.68829800G>A | CA413437014 | EFNB1 | c.24G>A (p.Trp8Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.68829800G>C | CA413437015 | EFNB1 | c.24G>C (p.Trp8Cys)
| |
X | g.68829800G= | CA2435560626 | EFNB1 | c.24G= (p.Trp8=)
| |
X | g.68829800G>T | CA413437016 | EFNB1 | c.24G>T (p.Trp8Cys)
| gnomAD v4 |
X | g.68829801C>A | CA413437017 | EFNB1 | c.25C>A (p.Leu9Ile)
| gnomAD v4 |
X | g.68829801C>G | CA413437018 | EFNB1 | c.25C>G (p.Leu9Val)
| |
X | g.68829801C>T | CA413437019 | EFNB1 | c.25C>T (p.Leu9Phe)
| gnomAD v4 |
X | g.68829802T>A | CA413437020 | EFNB1 | c.26T>A (p.Leu9His)
| gnomAD v4 |
X | g.68829802T>C | CA413437021 | EFNB1 | c.26T>C (p.Leu9Pro)
| gnomAD v4 |
X | g.68829802T>G | CA413437022 | EFNB1 | c.26T>G (p.Leu9Arg)
| |
X | g.68829803C>A | CA516988523 | EFNB1 | c.27C>A (p.Leu9=)
| gnomAD v4 |
X | g.68829803C= | CA2435560627 | EFNB1 | c.27C= (p.Leu9=)
| |
X | g.68829803C>G | CA516988524 | EFNB1 | c.27C>G (p.Leu9=)
| |
X | g.68829803C>T | CA516988525 | EFNB1 | c.27C>T (p.Leu9=)
| dbSNP gnomAD v4 |
X | g.68829804G>A | CA413437023 | EFNB1 | c.28G>A (p.Gly10Ser)
| gnomAD v4 |
X | g.68829804G>C | CA413437024 | EFNB1 | c.28G>C (p.Gly10Arg)
| gnomAD v4 |
X | g.68829804G>T | CA413437025 | EFNB1 | c.28G>T (p.Gly10Cys)
| gnomAD v4 |
X | g.68829805G>A | CA330857231 | EFNB1 | c.29G>A (p.Gly10Asp)
| dbSNP gnomAD v4 |
X | g.68829805G>C | CA413437027 | EFNB1 | c.29G>C (p.Gly10Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829805G= | CA2435560628 | EFNB1 | c.29G= (p.Gly10=)
| |
X | g.68829805G>T | CA413437026 | EFNB1 | c.29G>T (p.Gly10Val)
| gnomAD v4 |
X | g.68829806C>A | CA516988526 | EFNB1 | c.30C>A (p.Gly10=)
| gnomAD v4 |
X | g.68829806C>G | CA516988527 | EFNB1 | c.30C>G (p.Gly10=)
| gnomAD v4 |
X | g.68829806C>T | CA516988528 | EFNB1 | c.30C>T (p.Gly10=)
| gnomAD v4 |
X | g.68829807A>C | CA413437028 | EFNB1 | c.31A>C (p.Lys11Gln)
| |
X | g.68829807A>G | CA413437029 | EFNB1 | c.31A>G (p.Lys11Glu)
| gnomAD v4 |
X | g.68829807A>T | CA413437030 | EFNB1 | c.31A>T (p.Lys11Ter)
| |
X | g.68829808A>C | CA413437031 | EFNB1 | c.32A>C (p.Lys11Thr)
| |
X | g.68829808A>G | CA413437032 | EFNB1 | c.32A>G (p.Lys11Arg)
| gnomAD v4 |
X | g.68829808A>T | CA413437033 | EFNB1 | c.32A>T (p.Lys11Met)
| |
X | g.68829809G>A | CA10438097 | EFNB1 | c.33G>A (p.Lys11=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829809G>C | CA413437034 | EFNB1 | c.33G>C (p.Lys11Asn)
| |
X | g.68829809G= | CA2435560629 | EFNB1 | c.33G= (p.Lys11=)
| |
X | g.68829809G>T | CA413437035 | EFNB1 | c.33G>T (p.Lys11Asn)
| gnomAD v4 |
X | g.68829810T>A | CA413437037 | EFNB1 | c.34T>A (p.Trp12Arg)
| |
X | g.68829810T>C | CA413437038 | EFNB1 | c.34T>C (p.Trp12Arg)
| gnomAD v4 |
X | g.68829810T>G | CA413437036 | EFNB1 | c.34T>G (p.Trp12Gly)
| |
X | g.68829811G>A | CA413437039 | EFNB1 | c.35G>A (p.Trp12Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.68829811G>C | CA413437040 | EFNB1 | c.35G>C (p.Trp12Ser)
| |
X | g.68829811G= | CA2435560630 | EFNB1 | c.35G= (p.Trp12=)
| |
X | g.68829811G>T | CA413437041 | EFNB1 | c.35G>T (p.Trp12Leu)
| |
X | g.68829812G>A | CA413437042 | EFNB1 | c.36G>A (p.Trp12Ter)
| gnomAD v4 |
X | g.68829812G>C | CA413437043 | EFNB1 | c.36G>C (p.Trp12Cys)
| |
X | g.68829812G>T | CA413437044 | EFNB1 | c.36G>T (p.Trp12Cys)
| gnomAD v4 |
X | g.68829813C>A | CA413437045 | EFNB1 | c.37C>A (p.Leu13Ile)
| gnomAD v4 |
X | g.68829813C>G | CA413437046 | EFNB1 | c.37C>G (p.Leu13Val)
| |
X | g.68829813C>T | CA413437047 | EFNB1 | c.37C>T (p.Leu13Phe)
| gnomAD v4 |
X | g.68829814T>A | CA413437048 | EFNB1 | c.38T>A (p.Leu13His)
| |
X | g.68829814T>C | CA413437049 | EFNB1 | c.38T>C (p.Leu13Pro)
| |
X | g.68829814T>G | CA413437050 | EFNB1 | c.38T>G (p.Leu13Arg)
| |
X | g.68829815T>A | CA516988529 | EFNB1 | c.39T>A (p.Leu13=)
| |
X | g.68829815T>C | CA516988530 | EFNB1 | c.39T>C (p.Leu13=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829815T>G | CA516988531 | EFNB1 | c.39T>G (p.Leu13=)
| |
X | g.68829815T= | CA2435560631 | EFNB1 | c.39T= (p.Leu13=)
| |
X | g.68829816G>A | CA413437052 | EFNB1 | c.40G>A (p.Val14Met)
| gnomAD v4 |
X | g.68829816G>C | CA413437051 | EFNB1 | c.40G>C (p.Val14Leu)
| |
X | g.68829816G= | CA2435560632 | EFNB1 | c.40G= (p.Val14=)
| |
X | g.68829816G>T | CA10438098 | EFNB1 | c.40G>T (p.Val14Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829817T>A | CA413437053 | EFNB1 | c.41T>A (p.Val14Glu)
| |
X | g.68829817T>C | CA413437054 | EFNB1 | c.41T>C (p.Val14Ala)
| |
X | g.68829817T>G | CA413437055 | EFNB1 | c.41T>G (p.Val14Gly)
| |
X | g.68829818G>A | CA516988532 | EFNB1 | c.42G>A (p.Val14=)
| |
X | g.68829818G>C | CA516988534 | EFNB1 | c.42G>C (p.Val14=)
| |
X | g.68829818G>T | CA516988533 | EFNB1 | c.42G>T (p.Val14=)
| gnomAD v4 |
X | g.68829819del | CA2695234404 | EFNB1 | c.43del (p.Ala15ArgfsTer?)
| |
X | g.68829819G>A | CA413437056 | EFNB1 | c.43G>A (p.Ala15Thr)
| gnomAD v3 gnomAD v4 |
X | g.68829819G>C | CA413437057 | EFNB1 | c.43G>C (p.Ala15Pro)
| |
X | g.68829819G>T | CA413437058 | EFNB1 | c.43G>T (p.Ala15Ser)
| gnomAD v4 |
X | g.68829820C>A | CA413437059 | EFNB1 | c.44C>A (p.Ala15Glu)
| |
X | g.68829820C>G | CA413437060 | EFNB1 | c.44C>G (p.Ala15Gly)
| |
X | g.68829820C>T | CA413437061 | EFNB1 | c.44C>T (p.Ala15Val)
| gnomAD v4 |
X | g.68829821G>A | CA516988535 | EFNB1 | c.45G>A (p.Ala15=)
| gnomAD v4 |
X | g.68829821G>C | CA516988536 | EFNB1 | c.45G>C (p.Ala15=)
| gnomAD v4 |
X | g.68829821G>T | CA516988537 | EFNB1 | c.45G>T (p.Ala15=)
| |
X | g.68829822A>C | CA413437062 | EFNB1 | c.46A>C (p.Met16Leu)
| |
X | g.68829822A>G | CA413437063 | EFNB1 | c.46A>G (p.Met16Val)
| |
X | g.68829822A>T | CA413437064 | EFNB1 | c.46A>T (p.Met16Leu)
| |
X | g.68829823T>A | CA413437067 | EFNB1 | c.47T>A (p.Met16Lys)
| |
X | g.68829823T>C | CA413437066 | EFNB1 | c.47T>C (p.Met16Thr)
| |
X | g.68829823T>G | CA413437065 | EFNB1 | c.47T>G (p.Met16Arg)
| |
X | g.68829824G>A | CA413437068 | EFNB1 | c.48G>A (p.Met16Ile)
| |
X | g.68829824G>C | CA413437070 | EFNB1 | c.48G>C (p.Met16Ile)
| |
X | g.68829824G>T | CA413437069 | EFNB1 | c.48G>T (p.Met16Ile)
| |
X | g.68829825G>A | CA413437071 | EFNB1 | c.49G>A (p.Val17Ile)
| |
X | g.68829825G>C | CA413437072 | EFNB1 | c.49G>C (p.Val17Leu)
| |
X | g.68829825G= | CA2435560633 | EFNB1 | c.49G= (p.Val17=)
| |
X | g.68829825G>T | CA413437073 | EFNB1 | c.49G>T (p.Val17Phe)
| dbSNP gnomAD v4 |
X | g.68829826T>A | CA413437074 | EFNB1 | c.50T>A (p.Val17Asp)
| |
X | g.68829826T>C | CA413437075 | EFNB1 | c.50T>C (p.Val17Ala)
| |
X | g.68829826T>G | CA413437076 | EFNB1 | c.50T>G (p.Val17Gly)
| |
X | g.68829827C>A | CA516988540 | EFNB1 | c.51C>A (p.Val17=)
| gnomAD v4 |
X | g.68829827C>G | CA516988539 | EFNB1 | c.51C>G (p.Val17=)
| |
X | g.68829827C>T | CA516988538 | EFNB1 | c.51C>T (p.Val17=)
| |
X | g.68829828G>A | CA413437077 | EFNB1 | c.52G>A (p.Val18Met)
| gnomAD v4 |
X | g.68829828G>C | CA413437078 | EFNB1 | c.52G>C (p.Val18Leu)
| |
X | g.68829828G>T | CA413437079 | EFNB1 | c.52G>T (p.Val18Leu)
| |
X | g.68829829T>A | CA413437080 | EFNB1 | c.53T>A (p.Val18Glu)
| |
X | g.68829829T>C | CA413437081 | EFNB1 | c.53T>C (p.Val18Ala)
| |
X | g.68829829T>G | CA413437082 | EFNB1 | c.53T>G (p.Val18Gly)
| |
X | g.68829830G>A | CA516988542 | EFNB1 | c.54G>A (p.Val18=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829830G>C | CA516988543 | EFNB1 | c.54G>C (p.Val18=)
| |
X | g.68829830G= | CA2435560634 | EFNB1 | c.54G= (p.Val18=)
| |
X | g.68829830G>T | CA516988544 | EFNB1 | c.54G>T (p.Val18=)
| |
X | g.68829831T>A | CA413437083 | EFNB1 | c.55T>A (p.Trp19Arg)
| |
X | g.68829831T>C | CA413437085 | EFNB1 | c.55T>C (p.Trp19Arg)
| |
X | g.68829831T>G | CA413437084 | EFNB1 | c.55T>G (p.Trp19Gly)
| |
X | g.68829832G>A | CA413437086 | EFNB1 | c.56G>A (p.Trp19Ter)
| |
X | g.68829832G>C | CA413437087 | EFNB1 | c.56G>C (p.Trp19Ser)
| |
X | g.68829832G>T | CA413437088 | EFNB1 | c.56G>T (p.Trp19Leu)
| gnomAD v4 |
X | g.68829833G>A | CA413437089 | EFNB1 | c.57G>A (p.Trp19Ter)
| dbSNP gnomAD v2 |
X | g.68829833G>C | CA413437090 | EFNB1 | c.57G>C (p.Trp19Cys)
| |
X | g.68829833G= | CA2435560635 | EFNB1 | c.57G= (p.Trp19=)
| |
X | g.68829833G>T | CA413437091 | EFNB1 | c.57G>T (p.Trp19Cys)
| gnomAD v4 |
X | g.68829834G>A | CA413437092 | EFNB1 | c.58G>A (p.Ala20Thr)
| |
X | g.68829834G>C | CA413437093 | EFNB1 | c.58G>C (p.Ala20Pro)
| |
X | g.68829834G= | CA2435560636 | EFNB1 | c.58G= (p.Ala20=)
| |
X | g.68829834G>T | CA10438099 | EFNB1 | c.58G>T (p.Ala20Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829835C>A | CA413437095 | EFNB1 | c.59C>A (p.Ala20Glu)
| |
X | g.68829835C= | CA2435560637 | EFNB1 | c.59C= (p.Ala20=)
| |
X | g.68829835C>G | CA413437096 | EFNB1 | c.59C>G (p.Ala20Gly)
| |
X | g.68829835C>T | CA413437094 | EFNB1 | c.59C>T (p.Ala20Val)
| dbSNP |
X | g.68829836G>A | CA516988545 | EFNB1 | c.60G>A (p.Ala20=)
| |
X | g.68829836G>C | CA516988546 | EFNB1 | c.60G>C (p.Ala20=)
| |
X | g.68829836G>T | CA516988547 | EFNB1 | c.60G>T (p.Ala20=)
| |
X | g.68829837C>A | CA413437097 | EFNB1 | c.61C>A (p.Leu21Met)
| |
X | g.68829837C>G | CA413437098 | EFNB1 | c.61C>G (p.Leu21Val)
| |
X | g.68829837C>T | CA516988548 | EFNB1 | c.61C>T (p.Leu21=)
| gnomAD v4 |
X | g.68829838T>A | CA413437099 | EFNB1 | c.62T>A (p.Leu21Gln)
| |
X | g.68829838T>C | CA413437100 | EFNB1 | c.62T>C (p.Leu21Pro)
| |
X | g.68829838T>G | CA413437101 | EFNB1 | c.62T>G (p.Leu21Arg)
| |
X | g.68829839G>A | CA516988549 | EFNB1 | c.63G>A (p.Leu21=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829839G>C | CA516988550 | EFNB1 | c.63G>C (p.Leu21=)
| |
X | g.68829839G= | CA2435560638 | EFNB1 | c.63G= (p.Leu21=)
| |
X | g.68829839G>T | CA516988551 | EFNB1 | c.63G>T (p.Leu21=)
| |
X | g.68829840T>A | CA413437102 | EFNB1 | c.64T>A (p.Cys22Ser)
| |
X | g.68829840T>C | CA413437103 | EFNB1 | c.64T>C (p.Cys22Arg)
| |
X | g.68829840T>G | CA413437104 | EFNB1 | c.64T>G (p.Cys22Gly)
| |
X | g.68829841del | CA2695234405 | EFNB1 | c.65del (p.Cys22SerfsTer24)
| |
X | g.68829841G>A | CA413437105 | EFNB1 | c.65G>A (p.Cys22Tyr)
| |
X | g.68829841G>C | CA413437106 | EFNB1 | c.65G>C (p.Cys22Ser)
| gnomAD v4 |
X | g.68829841G>T | CA413437107 | EFNB1 | c.65G>T (p.Cys22Phe)
| |
X | g.68829842C>A | CA413437108 | EFNB1 | c.66C>A (p.Cys22Ter)
| |
X | g.68829842C>G | CA413437109 | EFNB1 | c.66C>G (p.Cys22Trp)
| |
X | g.68829842C>T | CA516988552 | EFNB1 | c.66C>T (p.Cys22=)
| gnomAD v4 |
X | g.68829843del | CA2695200222 | EFNB1 | c.67del (p.Arg23GlyfsTer23)
| ClinVar |
X | g.68829843C>A | CA516988553 | EFNB1 | c.67C>A (p.Arg23=)
| gnomAD v4 |
X | g.68829843C= | CA2435560639 | EFNB1 | c.67C= (p.Arg23=)
| |
X | g.68829843C>G | CA413437111 | EFNB1 | c.67C>G (p.Arg23Gly)
| dbSNP gnomAD v2 |
X | g.68829843C>T | CA413437110 | EFNB1 | c.67C>T (p.Arg23Trp)
| dbSNP gnomAD v4 |
X | g.68829844G>A | CA413437112 | EFNB1 | c.68G>A (p.Arg23Gln)
| |
X | g.68829844G>C | CA413437113 | EFNB1 | c.68G>C (p.Arg23Pro)
| |
X | g.68829844G>T | CA413437114 | EFNB1 | c.68G>T (p.Arg23Leu)
| |
X | g.68829845G>A | CA516988555 | EFNB1 | c.69G>A (p.Arg23=)
| gnomAD v4 |
X | g.68829845G>C | CA516988556 | EFNB1 | c.69G>C (p.Arg23=)
| |
X | g.68829845G>T | CA516988557 | EFNB1 | c.69G>T (p.Arg23=)
| gnomAD v4 |
X | g.68829846C>A | CA413437115 | EFNB1 | c.70C>A (p.Leu24Ile)
| |
X | g.68829846C= | CA2435560640 | EFNB1 | c.70C= (p.Leu24=)
| |
X | g.68829846C>G | CA413437116 | EFNB1 | c.70C>G (p.Leu24Val)
| |
X | g.68829846C>T | CA10438100 | EFNB1 | c.70C>T (p.Leu24Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.68829847T>A | CA413437117 | EFNB1 | c.71T>A (p.Leu24His)
| |
X | g.68829847T>C | CA413437118 | EFNB1 | c.71T>C (p.Leu24Pro)
| |
X | g.68829847T>G | CA413437119 | EFNB1 | c.71T>G (p.Leu24Arg)
| |
X | g.68829848C>A | CA516988558 | EFNB1 | c.72C>A (p.Leu24=)
| |
X | g.68829848C= | CA2435560641 | EFNB1 | c.72C= (p.Leu24=)
| |
X | g.68829848C>G | CA516988559 | EFNB1 | c.72C>G (p.Leu24=)
| |
X | g.68829848C>T | CA10438101 | EFNB1 | c.72C>T (p.Leu24=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.68829849G>A | CA413437120 | EFNB1 | c.73G>A (p.Ala25Thr)
| gnomAD v4 |
X | g.68829849G>C | CA413437121 | EFNB1 | c.73G>C (p.Ala25Pro)
| dbSNP gnomAD v2 |
X | g.68829849G= | CA2435560642 | EFNB1 | c.73G= (p.Ala25=)
| |
X | g.68829849G>T | CA413437122 | EFNB1 | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
X | g.68829850C>A | CA413437125 | EFNB1 | c.74C>A (p.Ala25Asp)
| |
X | g.68829850C>G | CA413437124 | EFNB1 | c.74C>G (p.Ala25Gly)
| |
X | g.68829850C>T | CA413437123 | EFNB1 | c.74C>T (p.Ala25Val)
| |
X | g.68829851C>A | CA516988560 | EFNB1 | c.75C>A (p.Ala25=)
| |
X | g.68829851C>G | CA516988561 | EFNB1 | c.75C>G (p.Ala25=)
| |
X | g.68829851C>T | CA516988562 | EFNB1 | c.75C>T (p.Ala25=)
| gnomAD v4 |
X | g.68829852A>C | CA413437126 | EFNB1 | c.76A>C (p.Thr26Pro)
| |
X | g.68829852A>G | CA413437127 | EFNB1 | c.76A>G (p.Thr26Ala)
| gnomAD v4 |
X | g.68829852A>T | CA413437128 | EFNB1 | c.76A>T (p.Thr26Ser)
| |
X | g.68829853C>A | CA413437129 | EFNB1 | c.77C>A (p.Thr26Lys)
| |
X | g.68829853C>G | CA413437130 | EFNB1 | c.77C>G (p.Thr26Arg)
| |
X | g.68829853C>T | CA413437131 | EFNB1 | c.77C>T (p.Thr26Ile)
| gnomAD v4 |
X | g.68829854A= | CA2435560643 | EFNB1 | c.78A= (p.Thr26=)
| |
X | g.68829854A>C | CA516988563 | EFNB1 | c.78A>C (p.Thr26=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.68829854A>G | CA516988564 | EFNB1 | c.78A>G (p.Thr26=)
| |
X | g.68829854A>T | CA516988565 | EFNB1 | c.78A>T (p.Thr26=)
| |
X | g.68829855C>A | CA413437132 | EFNB1 | c.79C>A (p.Pro27Thr)
| |
X | g.68829855C>G | CA413437133 | EFNB1 | c.79C>G (p.Pro27Ala)
| |
X | g.68829855C>T | CA413437134 | EFNB1 | c.79C>T (p.Pro27Ser)
| |
X | g.68829856C>A | CA413437135 | EFNB1 | c.80C>A (p.Pro27Gln)
| |
X | g.68829856C>G | CA413437136 | EFNB1 | c.80C>G (p.Pro27Arg)
| |
X | g.68829856C>T | CA413437137 | EFNB1 | c.80C>T (p.Pro27Leu)
| |
X | g.68829857G>A | CA516988566 | EFNB1 | c.81G>A (p.Pro27=)
| |
X | g.68829857G>C | CA516988567 | EFNB1 | c.81G>C (p.Pro27=)
| |
X | g.68829857G>T | CA516988568 | EFNB1 | c.81G>T (p.Pro27=)
| |
X | g.68829858C>A | CA413437138 | EFNB1 | c.82C>A (p.Leu28Met)
| |
X | g.68829858C>G | CA413437139 | EFNB1 | c.82C>G (p.Leu28Val)
| |
X | g.68829858C>T | CA516988569 | EFNB1 | c.82C>T (p.Leu28=)
| |
X | g.68829859T>A | CA413437142 | EFNB1 | c.83T>A (p.Leu28Gln)
| |
X | g.68829859T>C | CA413437141 | EFNB1 | c.83T>C (p.Leu28Pro)
| |
X | g.68829859T>G | CA413437140 | EFNB1 | c.83T>G (p.Leu28Arg)
| |
X | g.68829859T= | CA2435560644 | EFNB1 | c.83T= (p.Leu28=)
| |
X | g.68829860G>A | CA516988570 | EFNB1 | c.84G>A (p.Leu28=)
| gnomAD v4 |
X | g.68829860G>C | CA516988571 | EFNB1 | c.84G>C (p.Leu28=)
| |
X | g.68829860G>T | CA516988572 | EFNB1 | c.84G>T (p.Leu28=)
| |
X | g.68829861dup | CA10603735 | EFNB1 | c.85dup (p.Ala29GlyfsTer?)
| ClinVar dbSNP |
X | g.68829861G>A | CA413437143 | EFNB1 | c.85G>A (p.Ala29Thr)
| |
X | g.68829861G>C | CA413437144 | EFNB1 | c.85G>C (p.Ala29Pro)
| |
X | g.68829861G= | CA2435560645 | EFNB1 | c.85G= (p.Ala29=)
| |
X | g.68829861G>T | CA10438102 | EFNB1 | c.85G>T (p.Ala29Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.68829862C>A | CA413437145 | EFNB1 | c.86C>A (p.Ala29Asp)
| gnomAD v4 |
X | g.68829862C>G | CA413437146 | EFNB1 | c.86C>G (p.Ala29Gly)
| |
X | g.68829862C>T | CA413437147 | EFNB1 | c.86C>T (p.Ala29Val)
| |
X | g.68829863C>A | CA516988573 | EFNB1 | c.87C>A (p.Ala29=)
| |
X | g.68829863C>G | CA516988574 | EFNB1 | c.87C>G (p.Ala29=)
| |
X | g.68829863C>T | CA516988575 | EFNB1 | c.87C>T (p.Ala29=)
| |