UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| X | g.68829864A>C | CA413437148 | EFNB1 | c.88A>C (p.Lys30Gln) | |
| X | g.68829864A>G | CA413437149 | EFNB1 | c.88A>G (p.Lys30Glu) | |
| X | g.68829864A>T | CA413437150 | EFNB1 | c.88A>T (p.Lys30Ter) | |
| X | g.68829864_68829865del | CA2695234406 | EFNB1 | c.88_89del (p.Lys30GlufsTer?) | |
| X | g.68829865A>C | CA413437151 | EFNB1 | c.89A>C (p.Lys30Thr) | |
| X | g.68829865A>G | CA413437152 | EFNB1 | c.89A>G (p.Lys30Arg) | |
| X | g.68829865A>T | CA413437153 | EFNB1 | c.89A>T (p.Lys30Met) | |
| X | g.68829866G>A | CA516988576 | EFNB1 | c.90G>A (p.Lys30=) | |
| X | g.68829866G>C | CA413437154 | EFNB1 | c.90G>C (p.Lys30Asn) | gnomAD v4 |
| X | g.68829866G>T | CA413437155 | EFNB1 | c.90G>T (p.Lys30Asn) | gnomAD v4 |
| X | g.68829867A>C | CA413437157 | EFNB1 | c.91A>C (p.Asn31His) | |
| X | g.68829867A>G | CA413437158 | EFNB1 | c.91A>G (p.Asn31Asp) | |
| X | g.68829867A>T | CA413437156 | EFNB1 | c.91A>T (p.Asn31Tyr) | |
| X | g.68829868A= | CA2435560646 | EFNB1 | c.92A= (p.Asn31=) | |
| X | g.68829868A>C | CA413437159 | EFNB1 | c.92A>C (p.Asn31Thr) | |
| X | g.68829868A>G | CA413437160 | EFNB1 | c.92A>G (p.Asn31Ser) | |
| X | g.68829868A>T | CA413437161 | EFNB1 | c.92A>T (p.Asn31Ile) | |
| X | g.68829869C>A | CA413437162 | EFNB1 | c.93C>A (p.Asn31Lys) | |
| X | g.68829869C>G | CA413437163 | EFNB1 | c.93C>G (p.Asn31Lys) | |
| X | g.68829869C>T | CA516988577 | EFNB1 | c.93C>T (p.Asn31=) | |
| X | g.68829877_68829890dup | CA10581351 | EFNB1 | c.101_114dup (p.Ser39ProfsTer12) | ClinVar dbSNP |
| X | g.68829877_68829890del | CA2579984143 | EFNB1 | c.101_114del (p.Pro34LeufsTer?) | ClinVar |
| X | g.68829870C>A | CA413437165 | EFNB1 | c.94C>A (p.Leu32Met) | |
| X | g.68829870C>G | CA413437164 | EFNB1 | c.94C>G (p.Leu32Val) | |
| X | g.68829870C>T | CA516988578 | EFNB1 | c.94C>T (p.Leu32=) | |
| X | g.68829871T>A | CA413437166 | EFNB1 | c.95T>A (p.Leu32Gln) | |
| X | g.68829871T>C | CA413437167 | EFNB1 | c.95T>C (p.Leu32Pro) | |
| X | g.68829871T>G | CA413437168 | EFNB1 | c.95T>G (p.Leu32Arg) | |
| X | g.68829872G>A | CA516988579 | EFNB1 | c.96G>A (p.Leu32=) | |
| X | g.68829872G>C | CA516988580 | EFNB1 | c.96G>C (p.Leu32=) | |
| X | g.68829872G>T | CA516988581 | EFNB1 | c.96G>T (p.Leu32=) | |
| X | g.68829873G>A | CA413437169 | EFNB1 | c.97G>A (p.Glu33Lys) | |
| X | g.68829873G>C | CA413437170 | EFNB1 | c.97G>C (p.Glu33Gln) | gnomAD v4 |
| X | g.68829873G>T | CA413437171 | EFNB1 | c.97G>T (p.Glu33Ter) | |
| X | g.68829874A>C | CA413437172 | EFNB1 | c.98A>C (p.Glu33Ala) | |
| X | g.68829874A>G | CA413437174 | EFNB1 | c.98A>G (p.Glu33Gly) | gnomAD v4 |
| X | g.68829874A>T | CA413437173 | EFNB1 | c.98A>T (p.Glu33Val) | |
| X | g.68829875G>A | CA516988582 | EFNB1 | c.99G>A (p.Glu33=) | gnomAD v4 |
| X | g.68829875G>C | CA413437175 | EFNB1 | c.99G>C (p.Glu33Asp) | |
| X | g.68829875G= | CA2435560647 | EFNB1 | c.99G= (p.Glu33=) | |
| X | g.68829875G>T | CA10438103 | EFNB1 | c.99G>T (p.Glu33Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.68829876C>A | CA413437176 | EFNB1 | c.100C>A (p.Pro34Thr) | |
| X | g.68829876C= | CA2435560648 | EFNB1 | c.100C= (p.Pro34=) | |
| X | g.68829876C>G | CA413437177 | EFNB1 | c.100C>G (p.Pro34Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.68829876C>T | CA413437178 | EFNB1 | c.100C>T (p.Pro34Ser) | dbSNP gnomAD v2 |
| X | g.68829877C>A | CA413437179 | EFNB1 | c.101C>A (p.Pro34His) | |
| X | g.68829877C>G | CA413437180 | EFNB1 | c.101C>G (p.Pro34Arg) | |
| X | g.68829877C>T | CA413437181 | EFNB1 | c.101C>T (p.Pro34Leu) | |
| X | g.68829878C>A | CA516988583 | EFNB1 | c.102C>A (p.Pro34=) | gnomAD v4 |
| X | g.68829878C= | CA2435560649 | EFNB1 | c.102C= (p.Pro34=) | |
| X | g.68829878C>G | CA516988584 | EFNB1 | c.102C>G (p.Pro34=) | dbSNP gnomAD v4 |
| X | g.68829878C>T | CA516988585 | EFNB1 | c.102C>T (p.Pro34=) | gnomAD v4 |
| X | g.68829879G>A | CA330857232 | EFNB1 | c.103G>A (p.Val35Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.68829879G>C | CA413437182 | EFNB1 | c.103G>C (p.Val35Leu) | |
| X | g.68829879G= | CA2435560650 | EFNB1 | c.103G= (p.Val35=) | |
| X | g.68829879G>T | CA413437183 | EFNB1 | c.103G>T (p.Val35Leu) | |
| X | g.68829880T>A | CA413437184 | EFNB1 | c.104T>A (p.Val35Glu) | |
| X | g.68829880T>C | CA413437186 | EFNB1 | c.104T>C (p.Val35Ala) | gnomAD v4 |
| X | g.68829880T>G | CA413437185 | EFNB1 | c.104T>G (p.Val35Gly) | |
| X | g.68829881A>C | CA516988586 | EFNB1 | c.105A>C (p.Val35=) | |
| X | g.68829881A>G | CA516988588 | EFNB1 | c.105A>G (p.Val35=) | dbSNP |
| X | g.68829881A>T | CA516988587 | EFNB1 | c.105A>T (p.Val35=) | |
| X | g.68829882T>A | CA413437187 | EFNB1 | c.106T>A (p.Ser36Thr) | |
| X | g.68829882T>C | CA413437188 | EFNB1 | c.106T>C (p.Ser36Pro) | |
| X | g.68829882T>G | CA413437189 | EFNB1 | c.106T>G (p.Ser36Ala) | |
| X | g.68829883C>A | CA413437190 | EFNB1 | c.107C>A (p.Ser36Tyr) | dbSNP |
| X | g.68829883C= | CA2435560651 | EFNB1 | c.107C= (p.Ser36=) | |
| X | g.68829883C>G | CA413437191 | EFNB1 | c.107C>G (p.Ser36Cys) | |
| X | g.68829883C>T | CA413437192 | EFNB1 | c.107C>T (p.Ser36Phe) | dbSNP gnomAD v4 |
| X | g.68829884C>A | CA516988589 | EFNB1 | c.108C>A (p.Ser36=) | |
| X | g.68829884C>G | CA516988590 | EFNB1 | c.108C>G (p.Ser36=) | |
| X | g.68829884C>T | CA516988591 | EFNB1 | c.108C>T (p.Ser36=) | dbSNP |
| X | g.68829885T>A | CA413437194 | EFNB1 | c.109T>A (p.Trp37Arg) | gnomAD v4 |
| X | g.68829885T>C | CA413437193 | EFNB1 | c.109T>C (p.Trp37Arg) | |
| X | g.68829885T>G | CA121638 | EFNB1 | c.109T>G (p.Trp37Gly) | ClinVar dbSNP |
| X | g.68829885T= | CA2435560652 | EFNB1 | c.109T= (p.Trp37=) |