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 |
|---|---|---|---|---|---|
| 3 | g.184375492A>C | CA2668835459 | EIF2B5,THPO | c.648+23T>G (n.648+23T>G) c.228+23T>G (n.228+23T>G) c.2106+230785A>C (n.2106+230785A>C) | gnomAD v4 |
| 3 | g.184375493A= | CA1425998991 | EIF2B5,THPO | c.648+22T= (n.648+22T=) c.228+22T= (n.228+22T=) c.2106+230786A= (n.2106+230786A=) | |
| 3 | g.184375493A>C | CA2735019 | EIF2B5,THPO | c.648+22T>G (n.648+22T>G) c.228+22T>G (n.228+22T>G) c.2106+230786A>C (n.2106+230786A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184375493A>G | CA2668835466 | EIF2B5,THPO | c.648+22T>C (n.648+22T>C) c.228+22T>C (n.228+22T>C) c.2106+230786A>G (n.2106+230786A>G) | gnomAD v4 |
| 3 | g.184375495G>A | CA1425998993 | EIF2B5,THPO | c.648+20C>T (n.648+20C>T) c.228+20C>T (n.228+20C>T) c.2106+230788G>A (n.2106+230788G>A) | dbSNP |
| 3 | g.184375495G= | CA1425998992 | EIF2B5,THPO | c.648+20C= (n.648+20C=) c.228+20C= (n.228+20C=) c.2106+230788G= (n.2106+230788G=) | |
| 3 | g.184375495G>T | CA648079293 | EIF2B5,THPO | c.648+20C>A (n.648+20C>A) c.228+20C>A (n.228+20C>A) c.2106+230788G>T (n.2106+230788G>T) | COSMIC |
| 3 | g.184375499G>A | CA2735020 | EIF2B5,THPO | c.648+16C>T (n.648+16C>T) c.228+16C>T (n.228+16C>T) c.2106+230792G>A (n.2106+230792G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375499G= | CA1425998994 | EIF2B5,THPO | c.648+16C= (n.648+16C=) c.228+16C= (n.228+16C=) c.2106+230792G= (n.2106+230792G=) | |
| 3 | g.184375500G>A | CA1425998995 | EIF2B5,THPO | c.648+15C>T (n.648+15C>T) c.228+15C>T (n.228+15C>T) c.2106+230793G>A (n.2106+230793G>A) | dbSNP |
| 3 | g.184375500G= | CA1425998996 | EIF2B5,THPO | c.648+15C= (n.648+15C=) c.228+15C= (n.228+15C=) c.2106+230793G= (n.2106+230793G=) | |
| 3 | g.184375501G>A | CA548416608 | EIF2B5,THPO | c.648+14C>T (n.648+14C>T) c.228+14C>T (n.228+14C>T) c.2106+230794G>A (n.2106+230794G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375501G>C | CA548416610 | EIF2B5,THPO | c.648+14C>G (n.648+14C>G) c.228+14C>G (n.228+14C>G) c.2106+230794G>C (n.2106+230794G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184375501G= | CA1425998997 | EIF2B5,THPO | c.648+14C= (n.648+14C=) c.228+14C= (n.228+14C=) c.2106+230794G= (n.2106+230794G=) | |
| 3 | g.184375501G>T | CA2735021 | EIF2B5,THPO | c.648+14C>A (n.648+14C>A) c.228+14C>A (n.228+14C>A) c.2106+230794G>T (n.2106+230794G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375502A>C | CA2668835492 | EIF2B5,THPO | c.648+13T>G (n.648+13T>G) c.228+13T>G (n.228+13T>G) c.2106+230795A>C (n.2106+230795A>C) | gnomAD v4 |
| 3 | g.184375503T>C | CA2735022 | EIF2B5,THPO | c.648+12A>G (n.648+12A>G) c.228+12A>G (n.228+12A>G) c.2106+230796T>C (n.2106+230796T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184375503T= | CA1425998998 | EIF2B5,THPO | c.648+12A= (n.648+12A=) c.228+12A= (n.228+12A=) c.2106+230796T= (n.2106+230796T=) | |
| 3 | g.184375507T>A | CA2668835506 | EIF2B5,THPO | c.648+8A>T (n.648+8A>T) c.228+8A>T (n.228+8A>T) c.2106+230800T>A (n.2106+230800T>A) | gnomAD v4 |
| 3 | g.184375508T>G | CA88914513 | EIF2B5,THPO | c.648+7A>C (n.648+7A>C) c.228+7A>C (n.228+7A>C) c.2106+230801T>G (n.2106+230801T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184375508T= | CA1425998999 | EIF2B5,THPO | c.648+7A= (n.648+7A=) c.228+7A= (n.228+7A=) c.2106+230801T= (n.2106+230801T=) | |
| 3 | g.184375511T>C | CA1425999001 | EIF2B5,THPO | c.648+4A>G (n.648+4A>G) c.228+4A>G (n.228+4A>G) c.2106+230804T>C (n.2106+230804T>C) | dbSNP gnomAD v4 |
| 3 | g.184375511T>G | CA548416612 | EIF2B5,THPO | c.648+4A>C (n.648+4A>C) c.228+4A>C (n.228+4A>C) c.2106+230804T>G (n.2106+230804T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184375511T= | CA1425999000 | EIF2B5,THPO | c.648+4A= (n.648+4A=) c.228+4A= (n.228+4A=) c.2106+230804T= (n.2106+230804T=) | |
| 3 | g.184375513A= | CA1425999002 | EIF2B5,THPO | c.648+2T= (n.648+2T=) c.228+2T= (n.228+2T=) c.2106+230806A= (n.2106+230806A=) | |
| 3 | g.184375513A>C | CA355462963 | EIF2B5,THPO | c.648+2T>G (n.648+2T>G) c.228+2T>G (n.228+2T>G) c.2106+230806A>C (n.2106+230806A>C) | dbSNP |
| 3 | g.184375513A>G | CA355462964 | EIF2B5,THPO | c.648+2T>C (n.648+2T>C) c.228+2T>C (n.228+2T>C) c.2106+230806A>G (n.2106+230806A>G) | gnomAD v4 |
| 3 | g.184375513A>T | CA355462965 | EIF2B5,THPO | c.648+2T>A (n.648+2T>A) c.228+2T>A (n.228+2T>A) c.2106+230806A>T (n.2106+230806A>T) | |
| 3 | g.184375514C>A | CA355462966 | EIF2B5,THPO | c.648+1G>T (n.648+1G>T) c.228+1G>T (n.228+1G>T) c.2106+230807C>A (n.2106+230807C>A) | |
| 3 | g.184375514C>G | CA355462967 | EIF2B5,THPO | c.648+1G>C (n.648+1G>C) c.228+1G>C (n.228+1G>C) c.2106+230807C>G (n.2106+230807C>G) | |
| 3 | g.184375514C>T | CA355462968 | EIF2B5,THPO | c.648+1G>A (n.648+1G>A) c.228+1G>A (n.228+1G>A) c.2106+230807C>T (n.2106+230807C>T) | gnomAD v4 |
| 3 | g.184375515C>A | CA355462969 | EIF2B5,THPO | c.648G>T (p.Met216Ile) c.228G>T (p.Met76Ile) c.2106+230808C>A (n.2106+230808C>A) | gnomAD v4 |
| 3 | g.184375515C>G | CA355462970 | EIF2B5,THPO | c.648G>C (p.Met216Ile) c.228G>C (p.Met76Ile) c.2106+230808C>G (n.2106+230808C>G) | |
| 3 | g.184375515C>T | CA355462971 | EIF2B5,THPO | c.648G>A (p.Met216Ile) c.228G>A (p.Met76Ile) c.2106+230808C>T (n.2106+230808C>T) | |
| 3 | g.184375516A= | CA1425999003 | EIF2B5,THPO | c.647T= (p.Met216=) c.227T= (p.Met76=) c.2106+230809A= (n.2106+230809A=) | |
| 3 | g.184375516A>C | CA355462972 | EIF2B5,THPO | c.647T>G (p.Met216Arg) c.227T>G (p.Met76Arg) c.2106+230809A>C (n.2106+230809A>C) | |
| 3 | g.184375516A>G | CA355462973 | EIF2B5,THPO | c.647T>C (p.Met216Thr) c.227T>C (p.Met76Thr) c.2106+230809A>G (n.2106+230809A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184375516A>T | CA355462974 | EIF2B5,THPO | c.647T>A (p.Met216Lys) c.227T>A (p.Met76Lys) c.2106+230809A>T (n.2106+230809A>T) | |
| 3 | g.184375517T>A | CA355462977 | EIF2B5,THPO | c.646A>T (p.Met216Leu) c.226A>T (p.Met76Leu) c.2106+230810T>A (n.2106+230810T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184375517T>C | CA355462976 | EIF2B5,THPO | c.646A>G (p.Met216Val) c.226A>G (p.Met76Val) c.2106+230810T>C (n.2106+230810T>C) | |
| 3 | g.184375517T>G | CA355462975 | EIF2B5,THPO | c.646A>C (p.Met216Leu) c.226A>C (p.Met76Leu) c.2106+230810T>G (n.2106+230810T>G) | |
| 3 | g.184375517T= | CA1425999004 | EIF2B5,THPO | c.646A= (p.Met216=) c.226A= (p.Met76=) c.2106+230810T= (n.2106+230810T=) | |
| 3 | g.184375518C>A | CA355462978 | EIF2B5,THPO | c.645G>T (p.Gln215His) c.225G>T (p.Gln75His) c.2106+230811C>A (n.2106+230811C>A) | |
| 3 | g.184375518C>G | CA355462979 | EIF2B5,THPO | c.645G>C (p.Gln215His) c.225G>C (p.Gln75His) c.2106+230811C>G (n.2106+230811C>G) | |
| 3 | g.184375518C>T | CA437172361 | EIF2B5,THPO | c.645G>A (p.Gln215=) c.225G>A (p.Gln75=) c.2106+230811C>T (n.2106+230811C>T) | |
| 3 | g.184375519T>A | CA355462980 | EIF2B5,THPO | c.644A>T (p.Gln215Leu) c.224A>T (p.Gln75Leu) c.2106+230812T>A (n.2106+230812T>A) | |
| 3 | g.184375519T>C | CA355462981 | EIF2B5,THPO | c.644A>G (p.Gln215Arg) c.224A>G (p.Gln75Arg) c.2106+230812T>C (n.2106+230812T>C) | |
| 3 | g.184375519T>G | CA355462982 | EIF2B5,THPO | c.644A>C (p.Gln215Pro) c.224A>C (p.Gln75Pro) c.2106+230812T>G (n.2106+230812T>G) | |
| 3 | g.184375520G>A | CA355462983 | EIF2B5,THPO | c.643C>T (p.Gln215Ter) c.223C>T (p.Gln75Ter) c.2106+230813G>A (n.2106+230813G>A) | |
| 3 | g.184375520G>C | CA355462984 | EIF2B5,THPO | c.643C>G (p.Gln215Glu) c.223C>G (p.Gln75Glu) c.2106+230813G>C (n.2106+230813G>C) | |
| 3 | g.184375520G>T | CA355462985 | EIF2B5,THPO | c.643C>A (p.Gln215Lys) c.223C>A (p.Gln75Lys) c.2106+230813G>T (n.2106+230813G>T) | |
| 3 | g.184375522del | CA2577979239 | EIF2B5,THPO | c.643del (p.Gln215ArgfsTer14) c.223del (p.Gln75ArgfsTer14) c.2106+230815del (n.2106+230815del) | |
| 3 | g.184375521G>A | CA437172393 | EIF2B5,THPO | c.642C>T (p.Thr214=) c.222C>T (p.Thr74=) c.2106+230814G>A (n.2106+230814G>A) | |
| 3 | g.184375521G>C | CA437172396 | EIF2B5,THPO | c.642C>G (p.Thr214=) c.222C>G (p.Thr74=) c.2106+230814G>C (n.2106+230814G>C) | |
| 3 | g.184375521G>T | CA437172399 | EIF2B5,THPO | c.642C>A (p.Thr214=) c.222C>A (p.Thr74=) c.2106+230814G>T (n.2106+230814G>T) | gnomAD v4 COSMIC |
| 3 | g.184375522G>A | CA355462986 | EIF2B5,THPO | c.641C>T (p.Thr214Ile) c.221C>T (p.Thr74Ile) c.2106+230815G>A (n.2106+230815G>A) | |
| 3 | g.184375522G>C | CA355462987 | EIF2B5,THPO | c.641C>G (p.Thr214Ser) c.221C>G (p.Thr74Ser) c.2106+230815G>C (n.2106+230815G>C) | |
| 3 | g.184375522G>T | CA355462988 | EIF2B5,THPO | c.641C>A (p.Thr214Asn) c.221C>A (p.Thr74Asn) c.2106+230815G>T (n.2106+230815G>T) | |
| 3 | g.184375523T>A | CA355462989 | EIF2B5,THPO | c.640A>T (p.Thr214Ser) c.220A>T (p.Thr74Ser) c.2106+230816T>A (n.2106+230816T>A) | |
| 3 | g.184375523T>C | CA355462990 | EIF2B5,THPO | c.640A>G (p.Thr214Ala) c.220A>G (p.Thr74Ala) c.2106+230816T>C (n.2106+230816T>C) | |
| 3 | g.184375523T>G | CA355462991 | EIF2B5,THPO | c.640A>C (p.Thr214Pro) c.220A>C (p.Thr74Pro) c.2106+230816T>G (n.2106+230816T>G) | |
| 3 | g.184375524T>A | CA355462992 | EIF2B5,THPO | c.639A>T (p.Lys213Asn) c.219A>T (p.Lys73Asn) c.2106+230817T>A (n.2106+230817T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184375524T>C | CA437172410 | EIF2B5,THPO | c.639A>G (p.Lys213=) c.219A>G (p.Lys73=) c.2106+230817T>C (n.2106+230817T>C) | gnomAD v4 |
| 3 | g.184375524T>G | CA355462993 | EIF2B5,THPO | c.639A>C (p.Lys213Asn) c.219A>C (p.Lys73Asn) c.2106+230817T>G (n.2106+230817T>G) | |
| 3 | g.184375524T= | CA1425999005 | EIF2B5,THPO | c.639A= (p.Lys213=) c.219A= (p.Lys73=) c.2106+230817T= (n.2106+230817T=) | |
| 3 | g.184375525T>A | CA355462994 | EIF2B5,THPO | c.638A>T (p.Lys213Ile) c.218A>T (p.Lys73Ile) c.2106+230818T>A (n.2106+230818T>A) | |
| 3 | g.184375525T>C | CA355462995 | EIF2B5,THPO | c.638A>G (p.Lys213Arg) c.218A>G (p.Lys73Arg) c.2106+230818T>C (n.2106+230818T>C) | |
| 3 | g.184375525T>G | CA355462996 | EIF2B5,THPO | c.638A>C (p.Lys213Thr) c.218A>C (p.Lys73Thr) c.2106+230818T>G (n.2106+230818T>G) | |
| 3 | g.184375526T>A | CA355462997 | EIF2B5,THPO | c.637A>T (p.Lys213Ter) c.217A>T (p.Lys73Ter) c.2106+230819T>A (n.2106+230819T>A) | |
| 3 | g.184375526T>C | CA355462998 | EIF2B5,THPO | c.637A>G (p.Lys213Glu) c.217A>G (p.Lys73Glu) c.2106+230819T>C (n.2106+230819T>C) | |
| 3 | g.184375526T>G | CA355462999 | EIF2B5,THPO | c.637A>C (p.Lys213Gln) c.217A>C (p.Lys73Gln) c.2106+230819T>G (n.2106+230819T>G) | |
| 3 | g.184375527C>A | CA355463000 | EIF2B5,THPO | c.636G>T (p.Trp212Cys) c.216G>T (p.Trp72Cys) c.2106+230820C>A (n.2106+230820C>A) | |
| 3 | g.184375527C>G | CA355463001 | EIF2B5,THPO | c.636G>C (p.Trp212Cys) c.216G>C (p.Trp72Cys) c.2106+230820C>G (n.2106+230820C>G) | |
| 3 | g.184375527C>T | CA355463002 | EIF2B5,THPO | c.636G>A (p.Trp212Ter) c.216G>A (p.Trp72Ter) c.2106+230820C>T (n.2106+230820C>T) | |
| 3 | g.184375528C>A | CA355463003 | EIF2B5,THPO | c.635G>T (p.Trp212Leu) c.215G>T (p.Trp72Leu) c.2106+230821C>A (n.2106+230821C>A) | |
| 3 | g.184375528C>G | CA355463004 | EIF2B5,THPO | c.635G>C (p.Trp212Ser) c.215G>C (p.Trp72Ser) c.2106+230821C>G (n.2106+230821C>G) | |
| 3 | g.184375528C>T | CA355463005 | EIF2B5,THPO | c.635G>A (p.Trp212Ter) c.215G>A (p.Trp72Ter) c.2106+230821C>T (n.2106+230821C>T) | |
| 3 | g.184375529A= | CA1425999006 | EIF2B5,THPO | c.634T= (p.Trp212=) c.214T= (p.Trp72=) c.2106+230822A= (n.2106+230822A=) | |
| 3 | g.184375529A>C | CA355463007 | EIF2B5,THPO | c.634T>G (p.Trp212Gly) c.214T>G (p.Trp72Gly) c.2106+230822A>C (n.2106+230822A>C) | |
| 3 | g.184375529A>G | CA355463008 | EIF2B5,THPO | c.634T>C (p.Trp212Arg) c.214T>C (p.Trp72Arg) c.2106+230822A>G (n.2106+230822A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184375529A>T | CA355463006 | EIF2B5,THPO | c.634T>A (p.Trp212Arg) c.214T>A (p.Trp72Arg) c.2106+230822A>T (n.2106+230822A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184375530T>A | CA355463010 | EIF2B5,THPO | c.633A>T (p.Glu211Asp) c.213A>T (p.Glu71Asp) c.2106+230823T>A (n.2106+230823T>A) | |
| 3 | g.184375530T>C | CA437172434 | EIF2B5,THPO | c.633A>G (p.Glu211=) c.213A>G (p.Glu71=) c.2106+230823T>C (n.2106+230823T>C) | |
| 3 | g.184375530T>G | CA355463009 | EIF2B5,THPO | c.633A>C (p.Glu211Asp) c.213A>C (p.Glu71Asp) c.2106+230823T>G (n.2106+230823T>G) | |
| 3 | g.184375531del | CA2668835574 | EIF2B5,THPO | c.633del (p.Glu211AspfsTer18) c.213del (p.Glu71AspfsTer18) c.2106+230824del (n.2106+230824del) | gnomAD v4 |
| 3 | g.184375531T>A | CA355463011 | EIF2B5,THPO | c.632A>T (p.Glu211Val) c.212A>T (p.Glu71Val) c.2106+230824T>A (n.2106+230824T>A) | gnomAD v4 |
| 3 | g.184375531T>C | CA355463012 | EIF2B5,THPO | c.632A>G (p.Glu211Gly) c.212A>G (p.Glu71Gly) c.2106+230824T>C (n.2106+230824T>C) | gnomAD v4 |
| 3 | g.184375531T>G | CA355463013 | EIF2B5,THPO | c.632A>C (p.Glu211Ala) c.212A>C (p.Glu71Ala) c.2106+230824T>G (n.2106+230824T>G) | |
| 3 | g.184375532C>A | CA355463014 | EIF2B5,THPO | c.631G>T (p.Glu211Ter) c.211G>T (p.Glu71Ter) c.2106+230825C>A (n.2106+230825C>A) | |
| 3 | g.184375532C= | CA1425999007 | EIF2B5,THPO | c.631G= (p.Glu211=) c.211G= (p.Glu71=) c.2106+230825C= (n.2106+230825C=) | |
| 3 | g.184375532C>G | CA355463015 | EIF2B5,THPO | c.631G>C (p.Glu211Gln) c.211G>C (p.Glu71Gln) c.2106+230825C>G (n.2106+230825C>G) | |
| 3 | g.184375532C>T | CA355463016 | EIF2B5,THPO | c.631G>A (p.Glu211Lys) c.211G>A (p.Glu71Lys) c.2106+230825C>T (n.2106+230825C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184375533T>A | CA88914518 | EIF2B5,THPO | c.630A>T (p.Gly210=) c.210A>T (p.Gly70=) c.2106+230826T>A (n.2106+230826T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.184375533T>C | CA437172444 | EIF2B5,THPO | c.630A>G (p.Gly210=) c.210A>G (p.Gly70=) c.2106+230826T>C (n.2106+230826T>C) | |
| 3 | g.184375533T>G | CA437172446 | EIF2B5,THPO | c.630A>C (p.Gly210=) c.210A>C (p.Gly70=) c.2106+230826T>G (n.2106+230826T>G) | |
| 3 | g.184375533T= | CA1425999008 | EIF2B5,THPO | c.630A= (p.Gly210=) c.210A= (p.Gly70=) c.2106+230826T= (n.2106+230826T=) | |
| 3 | g.184375534C>A | CA355463017 | EIF2B5,THPO | c.629G>T (p.Gly210Val) c.209G>T (p.Gly70Val) c.2106+230827C>A (n.2106+230827C>A) | |
| 3 | g.184375534C>G | CA355463018 | EIF2B5,THPO | c.629G>C (p.Gly210Ala) c.209G>C (p.Gly70Ala) c.2106+230827C>G (n.2106+230827C>G) | |
| 3 | g.184375534C>T | CA355463019 | EIF2B5,THPO | c.629G>A (p.Gly210Glu) c.209G>A (p.Gly70Glu) c.2106+230827C>T (n.2106+230827C>T) | gnomAD v4 |
| 3 | g.184375535C>A | CA355463020 | EIF2B5,THPO | c.628G>T (p.Gly210Ter) c.208G>T (p.Gly70Ter) c.2106+230828C>A (n.2106+230828C>A) | |
| 3 | g.184375535C= | CA1425999009 | EIF2B5,THPO | c.628G= (p.Gly210=) c.208G= (p.Gly70=) c.2106+230828C= (n.2106+230828C=) | |
| 3 | g.184375535C>G | CA355463021 | EIF2B5,THPO | c.628G>C (p.Gly210Arg) c.208G>C (p.Gly70Arg) c.2106+230828C>G (n.2106+230828C>G) | |
| 3 | g.184375535C>T | CA88914519 | EIF2B5,THPO | c.628G>A (p.Gly210Arg) c.208G>A (p.Gly70Arg) c.2106+230828C>T (n.2106+230828C>T) | dbSNP |
| 3 | g.184375536C>A | CA355463023 | EIF2B5,THPO | c.627G>T (p.Leu209Phe) c.207G>T (p.Leu69Phe) c.2106+230829C>A (n.2106+230829C>A) | |
| 3 | g.184375536C>G | CA355463022 | EIF2B5,THPO | c.627G>C (p.Leu209Phe) c.207G>C (p.Leu69Phe) c.2106+230829C>G (n.2106+230829C>G) | |
| 3 | g.184375536C>T | CA437172455 | EIF2B5,THPO | c.627G>A (p.Leu209=) c.207G>A (p.Leu69=) c.2106+230829C>T (n.2106+230829C>T) | |
| 3 | g.184375537A>C | CA355463024 | EIF2B5,THPO | c.626T>G (p.Leu209Trp) c.206T>G (p.Leu69Trp) c.2106+230830A>C (n.2106+230830A>C) | |
| 3 | g.184375537A>G | CA355463025 | EIF2B5,THPO | c.626T>C (p.Leu209Ser) c.206T>C (p.Leu69Ser) c.2106+230830A>G (n.2106+230830A>G) | |
| 3 | g.184375537A>T | CA355463026 | EIF2B5,THPO | c.626T>A (p.Leu209Ter) c.206T>A (p.Leu69Ter) c.2106+230830A>T (n.2106+230830A>T) | |
| 3 | g.184375538A= | CA1425999010 | EIF2B5,THPO | c.625T= (p.Leu209=) c.205T= (p.Leu69=) c.2106+230831A= (n.2106+230831A=) | |
| 3 | g.184375538A>C | CA355463027 | EIF2B5,THPO | c.625T>G (p.Leu209Val) c.205T>G (p.Leu69Val) c.2106+230831A>C (n.2106+230831A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184375538A>G | CA437172464 | EIF2B5,THPO | c.625T>C (p.Leu209=) c.205T>C (p.Leu69=) c.2106+230831A>G (n.2106+230831A>G) | gnomAD v4 |
| 3 | g.184375538A>T | CA355463028 | EIF2B5,THPO | c.625T>A (p.Leu209Met) c.205T>A (p.Leu69Met) c.2106+230831A>T (n.2106+230831A>T) | |
| 3 | g.184375539G>A | CA437172468 | EIF2B5,THPO | c.624C>T (p.Ser208=) c.204C>T (p.Ser68=) c.2106+230832G>A (n.2106+230832G>A) | |
| 3 | g.184375539G>C | CA355463029 | EIF2B5,THPO | c.624C>G (p.Ser208Arg) c.204C>G (p.Ser68Arg) c.2106+230832G>C (n.2106+230832G>C) | |
| 3 | g.184375539G>T | CA355463030 | EIF2B5,THPO | c.624C>A (p.Ser208Arg) c.204C>A (p.Ser68Arg) c.2106+230832G>T (n.2106+230832G>T) | |
| 3 | g.184375540C>A | CA2735023 | EIF2B5,THPO | c.623G>T (p.Ser208Ile) c.203G>T (p.Ser68Ile) c.2106+230833C>A (n.2106+230833C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375540C= | CA1425999011 | EIF2B5,THPO | c.623G= (p.Ser208=) c.203G= (p.Ser68=) c.2106+230833C= (n.2106+230833C=) | |
| 3 | g.184375540C>G | CA355463031 | EIF2B5,THPO | c.623G>C (p.Ser208Thr) c.203G>C (p.Ser68Thr) c.2106+230833C>G (n.2106+230833C>G) | gnomAD v4 |
| 3 | g.184375540C>T | CA2735024 | EIF2B5,THPO | c.623G>A (p.Ser208Asn) c.203G>A (p.Ser68Asn) c.2106+230833C>T (n.2106+230833C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.184375541T>A | CA355463032 | EIF2B5,THPO | c.622A>T (p.Ser208Cys) c.202A>T (p.Ser68Cys) c.2106+230834T>A (n.2106+230834T>A) | |
| 3 | g.184375541T>C | CA355463033 | EIF2B5,THPO | c.622A>G (p.Ser208Gly) c.202A>G (p.Ser68Gly) c.2106+230834T>C (n.2106+230834T>C) | gnomAD v4 |
| 3 | g.184375541T>G | CA355463034 | EIF2B5,THPO | c.622A>C (p.Ser208Arg) c.202A>C (p.Ser68Arg) c.2106+230834T>G (n.2106+230834T>G) | gnomAD v4 |
| 3 | g.184375542A= | CA1425999012 | EIF2B5,THPO | c.621T= (p.Phe207=) c.201T= (p.Phe67=) c.2106+230835A= (n.2106+230835A=) | |
| 3 | g.184375542A>C | CA355463035 | EIF2B5,THPO | c.621T>G (p.Phe207Leu) c.201T>G (p.Phe67Leu) c.2106+230835A>C (n.2106+230835A>C) | |
| 3 | g.184375542A>G | CA2735025 | EIF2B5,THPO | c.621T>C (p.Phe207=) c.201T>C (p.Phe67=) c.2106+230835A>G (n.2106+230835A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375542A>T | CA88914544 | EIF2B5,THPO | c.621T>A (p.Phe207Leu) c.201T>A (p.Phe67Leu) c.2106+230835A>T (n.2106+230835A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375543A>C | CA355463036 | EIF2B5,THPO | c.620T>G (p.Phe207Cys) c.200T>G (p.Phe67Cys) c.2106+230836A>C (n.2106+230836A>C) | |
| 3 | g.184375543A>G | CA355463037 | EIF2B5,THPO | c.620T>C (p.Phe207Ser) c.200T>C (p.Phe67Ser) c.2106+230836A>G (n.2106+230836A>G) | |
| 3 | g.184375543A>T | CA355463038 | EIF2B5,THPO | c.620T>A (p.Phe207Tyr) c.200T>A (p.Phe67Tyr) c.2106+230836A>T (n.2106+230836A>T) | |
| 3 | g.184375544A>C | CA355463039 | EIF2B5,THPO | c.619T>G (p.Phe207Val) c.199T>G (p.Phe67Val) c.2106+230837A>C (n.2106+230837A>C) | |
| 3 | g.184375544A>G | CA355463040 | EIF2B5,THPO | c.619T>C (p.Phe207Leu) c.199T>C (p.Phe67Leu) c.2106+230837A>G (n.2106+230837A>G) | |
| 3 | g.184375544A>T | CA355463041 | EIF2B5,THPO | c.619T>A (p.Phe207Ile) c.199T>A (p.Phe67Ile) c.2106+230837A>T (n.2106+230837A>T) | |
| 3 | g.184375545G>A | CA437172495 | EIF2B5,THPO | c.618C>T (p.Asp206=) c.198C>T (p.Asp66=) c.2106+230838G>A (n.2106+230838G>A) | gnomAD v4 |
| 3 | g.184375545G>C | CA355463042 | EIF2B5,THPO | c.618C>G (p.Asp206Glu) c.198C>G (p.Asp66Glu) c.2106+230838G>C (n.2106+230838G>C) | |
| 3 | g.184375545G>T | CA355463043 | EIF2B5,THPO | c.618C>A (p.Asp206Glu) c.198C>A (p.Asp66Glu) c.2106+230838G>T (n.2106+230838G>T) | |
| 3 | g.184375546T>A | CA355463044 | EIF2B5,THPO | c.617A>T (p.Asp206Val) c.197A>T (p.Asp66Val) c.2106+230839T>A (n.2106+230839T>A) | |
| 3 | g.184375546T>C | CA355463045 | EIF2B5,THPO | c.617A>G (p.Asp206Gly) c.197A>G (p.Asp66Gly) c.2106+230839T>C (n.2106+230839T>C) | |
| 3 | g.184375546T>G | CA355463046 | EIF2B5,THPO | c.617A>C (p.Asp206Ala) c.197A>C (p.Asp66Ala) c.2106+230839T>G (n.2106+230839T>G) | |
| 3 | g.184375547C>A | CA355463049 | EIF2B5,THPO | c.616G>T (p.Asp206Tyr) c.196G>T (p.Asp66Tyr) c.2106+230840C>A (n.2106+230840C>A) | |
| 3 | g.184375547C>G | CA355463048 | EIF2B5,THPO | c.616G>C (p.Asp206His) c.196G>C (p.Asp66His) c.2106+230840C>G (n.2106+230840C>G) | |
| 3 | g.184375547C>T | CA355463047 | EIF2B5,THPO | c.616G>A (p.Asp206Asn) c.196G>A (p.Asp66Asn) c.2106+230840C>T (n.2106+230840C>T) | |
| 3 | g.184375548C>A | CA437172508 | EIF2B5,THPO | c.615G>T (p.Val205=) c.195G>T (p.Val65=) c.2106+230841C>A (n.2106+230841C>A) | |
| 3 | g.184375548C= | CA1425999013 | EIF2B5,THPO | c.615G= (p.Val205=) c.195G= (p.Val65=) c.2106+230841C= (n.2106+230841C=) | |
| 3 | g.184375548C>G | CA2735026 | EIF2B5,THPO | c.615G>C (p.Val205=) c.195G>C (p.Val65=) c.2106+230841C>G (n.2106+230841C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375548C>T | CA437172512 | EIF2B5,THPO | c.615G>A (p.Val205=) c.195G>A (p.Val65=) c.2106+230841C>T (n.2106+230841C>T) | |
| 3 | g.184375549A>C | CA355463050 | EIF2B5,THPO | c.614T>G (p.Val205Gly) c.194T>G (p.Val65Gly) c.2106+230842A>C (n.2106+230842A>C) | |
| 3 | g.184375549A>G | CA355463051 | EIF2B5,THPO | c.614T>C (p.Val205Ala) c.194T>C (p.Val65Ala) c.2106+230842A>G (n.2106+230842A>G) | |
| 3 | g.184375549A>T | CA355463052 | EIF2B5,THPO | c.614T>A (p.Val205Glu) c.194T>A (p.Val65Glu) c.2106+230842A>T (n.2106+230842A>T) | |
| 3 | g.184375550C>A | CA355463053 | EIF2B5,THPO | c.613G>T (p.Val205Leu) c.193G>T (p.Val65Leu) c.2106+230843C>A (n.2106+230843C>A) | |
| 3 | g.184375550C>G | CA355463054 | EIF2B5,THPO | c.613G>C (p.Val205Leu) c.193G>C (p.Val65Leu) c.2106+230843C>G (n.2106+230843C>G) | |
| 3 | g.184375550C>T | CA355463055 | EIF2B5,THPO | c.613G>A (p.Val205Met) c.193G>A (p.Val65Met) c.2106+230843C>T (n.2106+230843C>T) | gnomAD v4 |
| 3 | g.184375551A>C | CA437172526 | EIF2B5,THPO | c.612T>G (p.Ala204=) c.192T>G (p.Ala64=) c.2106+230844A>C (n.2106+230844A>C) | |
| 3 | g.184375551A>G | CA437172522 | EIF2B5,THPO | c.612T>C (p.Ala204=) c.192T>C (p.Ala64=) c.2106+230844A>G (n.2106+230844A>G) | gnomAD v4 |
| 3 | g.184375551A>T | CA437172524 | EIF2B5,THPO | c.612T>A (p.Ala204=) c.192T>A (p.Ala64=) c.2106+230844A>T (n.2106+230844A>T) | |
| 3 | g.184375552G>A | CA355463056 | EIF2B5,THPO | c.611C>T (p.Ala204Val) c.191C>T (p.Ala64Val) c.2106+230845G>A (n.2106+230845G>A) | gnomAD v4 |
| 3 | g.184375552G>C | CA355463057 | EIF2B5,THPO | c.611C>G (p.Ala204Gly) c.191C>G (p.Ala64Gly) c.2106+230845G>C (n.2106+230845G>C) | |
| 3 | g.184375552G>T | CA355463058 | EIF2B5,THPO | c.611C>A (p.Ala204Asp) c.191C>A (p.Ala64Asp) c.2106+230845G>T (n.2106+230845G>T) | |
| 3 | g.184375553C>A | CA355463059 | EIF2B5,THPO | c.610G>T (p.Ala204Ser) c.190G>T (p.Ala64Ser) c.2106+230846C>A (n.2106+230846C>A) | |
| 3 | g.184375553C= | CA1425999014 | EIF2B5,THPO | c.610G= (p.Ala204=) c.190G= (p.Ala64=) c.2106+230846C= (n.2106+230846C=) | |
| 3 | g.184375553C>G | CA355463060 | EIF2B5,THPO | c.610G>C (p.Ala204Pro) c.190G>C (p.Ala64Pro) c.2106+230846C>G (n.2106+230846C>G) | |
| 3 | g.184375553C>T | CA355463061 | EIF2B5,THPO | c.610G>A (p.Ala204Thr) c.190G>A (p.Ala64Thr) c.2106+230846C>T (n.2106+230846C>T) | dbSNP gnomAD v4 |
| 3 | g.184375554A>C | CA437172537 | EIF2B5,THPO | c.609T>G (p.Pro203=) c.189T>G (p.Pro63=) c.2106+230847A>C (n.2106+230847A>C) | |
| 3 | g.184375554A>G | CA437172539 | EIF2B5,THPO | c.609T>C (p.Pro203=) c.189T>C (p.Pro63=) c.2106+230847A>G (n.2106+230847A>G) | gnomAD v4 |
| 3 | g.184375554A>T | CA437172544 | EIF2B5,THPO | c.609T>A (p.Pro203=) c.189T>A (p.Pro63=) c.2106+230847A>T (n.2106+230847A>T) | |
| 3 | g.184375555G>A | CA355463063 | EIF2B5,THPO | c.608C>T (p.Pro203Leu) c.188C>T (p.Pro63Leu) c.2106+230848G>A (n.2106+230848G>A) | |
| 3 | g.184375555G>C | CA355463064 | EIF2B5,THPO | c.608C>G (p.Pro203Arg) c.188C>G (p.Pro63Arg) c.2106+230848G>C (n.2106+230848G>C) | |
| 3 | g.184375555G>T | CA355463062 | EIF2B5,THPO | c.608C>A (p.Pro203His) c.188C>A (p.Pro63His) c.2106+230848G>T (n.2106+230848G>T) | |
| 3 | g.184375556G>A | CA355463067 | EIF2B5,THPO | c.607C>T (p.Pro203Ser) c.187C>T (p.Pro63Ser) c.2106+230849G>A (n.2106+230849G>A) | |
| 3 | g.184375556G>C | CA355463065 | EIF2B5,THPO | c.607C>G (p.Pro203Ala) c.187C>G (p.Pro63Ala) c.2106+230849G>C (n.2106+230849G>C) | |
| 3 | g.184375556G>T | CA355463066 | EIF2B5,THPO | c.607C>A (p.Pro203Thr) c.187C>A (p.Pro63Thr) c.2106+230849G>T (n.2106+230849G>T) | |
| 3 | g.184375557C>A | CA437172557 | EIF2B5,THPO | c.606G>T (p.Leu202=) c.186G>T (p.Leu62=) c.2106+230850C>A (n.2106+230850C>A) | |
| 3 | g.184375557C>G | CA437172559 | EIF2B5,THPO | c.606G>C (p.Leu202=) c.186G>C (p.Leu62=) c.2106+230850C>G (n.2106+230850C>G) | |
| 3 | g.184375557C>T | CA437172561 | EIF2B5,THPO | c.606G>A (p.Leu202=) c.186G>A (p.Leu62=) c.2106+230850C>T (n.2106+230850C>T) | |
| 3 | g.184375558A>C | CA355463068 | EIF2B5,THPO | c.605T>G (p.Leu202Arg) c.185T>G (p.Leu62Arg) c.2106+230851A>C (n.2106+230851A>C) | |
| 3 | g.184375558A>G | CA355463069 | EIF2B5,THPO | c.605T>C (p.Leu202Pro) c.185T>C (p.Leu62Pro) c.2106+230851A>G (n.2106+230851A>G) | gnomAD v4 |
| 3 | g.184375558A>T | CA355463070 | EIF2B5,THPO | c.605T>A (p.Leu202Gln) c.185T>A (p.Leu62Gln) c.2106+230851A>T (n.2106+230851A>T) | |
| 3 | g.184375559G>A | CA437172570 | EIF2B5,THPO | c.604C>T (p.Leu202=) c.184C>T (p.Leu62=) c.2106+230852G>A (n.2106+230852G>A) | gnomAD v4 |
| 3 | g.184375559G>C | CA355463071 | EIF2B5,THPO | c.604C>G (p.Leu202Val) c.184C>G (p.Leu62Val) c.2106+230852G>C (n.2106+230852G>C) | |
| 3 | g.184375559G>T | CA355463072 | EIF2B5,THPO | c.604C>A (p.Leu202Met) c.184C>A (p.Leu62Met) c.2106+230852G>T (n.2106+230852G>T) | |
| 3 | g.184375560C>A | CA2735027 | EIF2B5,THPO | c.603G>T (p.Leu201=) c.183G>T (p.Leu61=) c.2106+230853C>A (n.2106+230853C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375560C= | CA1425999015 | EIF2B5,THPO | c.603G= (p.Leu201=) c.183G= (p.Leu61=) c.2106+230853C= (n.2106+230853C=) | |
| 3 | g.184375560C>G | CA437172574 | EIF2B5,THPO | c.603G>C (p.Leu201=) c.183G>C (p.Leu61=) c.2106+230853C>G (n.2106+230853C>G) | |
| 3 | g.184375560C>T | CA437172576 | EIF2B5,THPO | c.603G>A (p.Leu201=) c.183G>A (p.Leu61=) c.2106+230853C>T (n.2106+230853C>T) | |
| 3 | g.184375561A>C | CA355463073 | EIF2B5,THPO | c.602T>G (p.Leu201Arg) c.182T>G (p.Leu61Arg) c.2106+230854A>C (n.2106+230854A>C) | |
| 3 | g.184375561A>G | CA355463074 | EIF2B5,THPO | c.602T>C (p.Leu201Pro) c.182T>C (p.Leu61Pro) c.2106+230854A>G (n.2106+230854A>G) | |
| 3 | g.184375561A>T | CA355463075 | EIF2B5,THPO | c.602T>A (p.Leu201Gln) c.182T>A (p.Leu61Gln) c.2106+230854A>T (n.2106+230854A>T) | |
| 3 | g.184375562G>A | CA437172584 | EIF2B5,THPO | c.601C>T (p.Leu201=) c.181C>T (p.Leu61=) c.2106+230855G>A (n.2106+230855G>A) | |
| 3 | g.184375562G>C | CA355463076 | EIF2B5,THPO | c.601C>G (p.Leu201Val) c.181C>G (p.Leu61Val) c.2106+230855G>C (n.2106+230855G>C) | |
| 3 | g.184375562G>T | CA355463077 | EIF2B5,THPO | c.601C>A (p.Leu201Met) c.181C>A (p.Leu61Met) c.2106+230855G>T (n.2106+230855G>T) | |
| 3 | g.184375563G>A | CA437172588 | EIF2B5,THPO | c.600C>T (p.Val200=) c.180C>T (p.Val60=) c.2106+230856G>A (n.2106+230856G>A) | |
| 3 | g.184375563G>C | CA437172590 | EIF2B5,THPO | c.600C>G (p.Val200=) c.180C>G (p.Val60=) c.2106+230856G>C (n.2106+230856G>C) | |
| 3 | g.184375563G>T | CA437172593 | EIF2B5,THPO | c.600C>A (p.Val200=) c.180C>A (p.Val60=) c.2106+230856G>T (n.2106+230856G>T) | |
| 3 | g.184375564A>C | CA355463080 | EIF2B5,THPO | c.599T>G (p.Val200Gly) c.179T>G (p.Val60Gly) c.2106+230857A>C (n.2106+230857A>C) | |
| 3 | g.184375564A>G | CA355463078 | EIF2B5,THPO | c.599T>C (p.Val200Ala) c.179T>C (p.Val60Ala) c.2106+230857A>G (n.2106+230857A>G) | |
| 3 | g.184375564A>T | CA355463079 | EIF2B5,THPO | c.599T>A (p.Val200Asp) c.179T>A (p.Val60Asp) c.2106+230857A>T (n.2106+230857A>T) | |
| 3 | g.184375565C>A | CA355463081 | EIF2B5,THPO | c.598G>T (p.Val200Phe) c.178G>T (p.Val60Phe) c.2106+230858C>A (n.2106+230858C>A) | |
| 3 | g.184375565C>G | CA355463082 | EIF2B5,THPO | c.598G>C (p.Val200Leu) c.178G>C (p.Val60Leu) c.2106+230858C>G (n.2106+230858C>G) | |
| 3 | g.184375565C>T | CA355463083 | EIF2B5,THPO | c.598G>A (p.Val200Ile) c.178G>A (p.Val60Ile) c.2106+230858C>T (n.2106+230858C>T) | |
| 3 | g.184375566A>C | CA437172605 | EIF2B5,THPO | c.597T>G (p.Pro199=) c.177T>G (p.Pro59=) c.2106+230859A>C (n.2106+230859A>C) | |
| 3 | g.184375566A>G | CA437172607 | EIF2B5,THPO | c.597T>C (p.Pro199=) c.177T>C (p.Pro59=) c.2106+230859A>G (n.2106+230859A>G) | |
| 3 | g.184375566A>T | CA437172609 | EIF2B5,THPO | c.597T>A (p.Pro199=) c.177T>A (p.Pro59=) c.2106+230859A>T (n.2106+230859A>T) | |
| 3 | g.184375567G>A | CA355463084 | EIF2B5,THPO | c.596C>T (p.Pro199Leu) c.176C>T (p.Pro59Leu) c.2106+230860G>A (n.2106+230860G>A) | |
| 3 | g.184375567G>C | CA355463085 | EIF2B5,THPO | c.596C>G (p.Pro199Arg) c.176C>G (p.Pro59Arg) c.2106+230860G>C (n.2106+230860G>C) | |
| 3 | g.184375567G>T | CA355463086 | EIF2B5,THPO | c.596C>A (p.Pro199His) c.176C>A (p.Pro59His) c.2106+230860G>T (n.2106+230860G>T) | |
| 3 | g.184375568G>A | CA88914577 | EIF2B5,THPO | c.595C>T (p.Pro199Ser) c.175C>T (p.Pro59Ser) c.2106+230861G>A (n.2106+230861G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.184375568G>C | CA88914588 | EIF2B5,THPO | c.595C>G (p.Pro199Ala) c.175C>G (p.Pro59Ala) c.2106+230861G>C (n.2106+230861G>C) | dbSNP |
| 3 | g.184375568G= | CA1425999016 | EIF2B5,THPO | c.595C= (p.Pro199=) c.175C= (p.Pro59=) c.2106+230861G= (n.2106+230861G=) | |
| 3 | g.184375568G>T | CA355463087 | EIF2B5,THPO | c.595C>A (p.Pro199Thr) c.175C>A (p.Pro59Thr) c.2106+230861G>T (n.2106+230861G>T) | |
| 3 | g.184375570_184375571del | CA2704883953 | EIF2B5,THPO | c.594_595del (p.Pro199CysfsTer9) c.174_175del (p.Pro59CysfsTer9) c.2106+230863_2106+230864del (n.2106+230863_2106+230864del) | dbSNP |
| 3 | g.184375569T>A | CA437172622 | EIF2B5,THPO | c.594A>T (p.Thr198=) c.174A>T (p.Thr58=) c.2106+230862T>A (n.2106+230862T>A) | |
| 3 | g.184375569T>C | CA437172624 | EIF2B5,THPO | c.594A>G (p.Thr198=) c.174A>G (p.Thr58=) c.2106+230862T>C (n.2106+230862T>C) | |
| 3 | g.184375569T>G | CA437172626 | EIF2B5,THPO | c.594A>C (p.Thr198=) c.174A>C (p.Thr58=) c.2106+230862T>G (n.2106+230862T>G) | |
| 3 | g.184375570G>A | CA2735028 | EIF2B5,THPO | c.593C>T (p.Thr198Ile) c.173C>T (p.Thr58Ile) c.2106+230863G>A (n.2106+230863G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375570G>C | CA355463088 | EIF2B5,THPO | c.593C>G (p.Thr198Arg) c.173C>G (p.Thr58Arg) c.2106+230863G>C (n.2106+230863G>C) | |
| 3 | g.184375570G= | CA1425999017 | EIF2B5,THPO | c.593C= (p.Thr198=) c.173C= (p.Thr58=) c.2106+230863G= (n.2106+230863G=) | |
| 3 | g.184375570G>T | CA355463089 | EIF2B5,THPO | c.593C>A (p.Thr198Lys) c.173C>A (p.Thr58Lys) c.2106+230863G>T (n.2106+230863G>T) | gnomAD v4 |
| 3 | g.184375571T>A | CA355463092 | EIF2B5,THPO | c.592A>T (p.Thr198Ser) c.172A>T (p.Thr58Ser) c.2106+230864T>A (n.2106+230864T>A) | dbSNP |
| 3 | g.184375571T>C | CA355463091 | EIF2B5,THPO | c.592A>G (p.Thr198Ala) c.172A>G (p.Thr58Ala) c.2106+230864T>C (n.2106+230864T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375571T>G | CA355463090 | EIF2B5,THPO | c.592A>C (p.Thr198Pro) c.172A>C (p.Thr58Pro) c.2106+230864T>G (n.2106+230864T>G) | |
| 3 | g.184375571T= | CA1425999018 | EIF2B5,THPO | c.592A= (p.Thr198=) c.172A= (p.Thr58=) c.2106+230864T= (n.2106+230864T=) | |
| 3 | g.184375572A= | CA1425999019 | EIF2B5,THPO | c.591T= (p.Pro197=) c.171T= (p.Pro57=) c.2106+230865A= (n.2106+230865A=) | |
| 3 | g.184375572A>C | CA2735029 | EIF2B5,THPO | c.591T>G (p.Pro197=) c.171T>G (p.Pro57=) c.2106+230865A>C (n.2106+230865A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.184375572A>G | CA437172639 | EIF2B5,THPO | c.591T>C (p.Pro197=) c.171T>C (p.Pro57=) c.2106+230865A>G (n.2106+230865A>G) | |
| 3 | g.184375572A>T | CA437172637 | EIF2B5,THPO | c.591T>A (p.Pro197=) c.171T>A (p.Pro57=) c.2106+230865A>T (n.2106+230865A>T) | |
| 3 | g.184375573G>A | CA355463093 | EIF2B5,THPO | c.590C>T (p.Pro197Leu) c.170C>T (p.Pro57Leu) c.2106+230866G>A (n.2106+230866G>A) | gnomAD v4 |
| 3 | g.184375573G>C | CA355463094 | EIF2B5,THPO | c.590C>G (p.Pro197Arg) c.170C>G (p.Pro57Arg) c.2106+230866G>C (n.2106+230866G>C) | |
| 3 | g.184375573G>T | CA355463095 | EIF2B5,THPO | c.590C>A (p.Pro197His) c.170C>A (p.Pro57His) c.2106+230866G>T (n.2106+230866G>T) | |
| 3 | g.184375574G>A | CA355463096 | EIF2B5,THPO | c.589C>T (p.Pro197Ser) c.169C>T (p.Pro57Ser) c.2106+230867G>A (n.2106+230867G>A) | gnomAD v4 |
| 3 | g.184375574G>C | CA355463097 | EIF2B5,THPO | c.589C>G (p.Pro197Ala) c.169C>G (p.Pro57Ala) c.2106+230867G>C (n.2106+230867G>C) | |
| 3 | g.184375574G>T | CA355463098 | EIF2B5,THPO | c.589C>A (p.Pro197Thr) c.169C>A (p.Pro57Thr) c.2106+230867G>T (n.2106+230867G>T) | |
| 3 | g.184375575C>A | CA355463099 | EIF2B5,THPO | c.588G>T (p.Leu196Phe) c.168G>T (p.Leu56Phe) c.2106+230868C>A (n.2106+230868C>A) | |
| 3 | g.184375575C>G | CA355463100 | EIF2B5,THPO | c.588G>C (p.Leu196Phe) c.168G>C (p.Leu56Phe) c.2106+230868C>G (n.2106+230868C>G) | |
| 3 | g.184375575C>T | CA437172655 | EIF2B5,THPO | c.588G>A (p.Leu196=) c.168G>A (p.Leu56=) c.2106+230868C>T (n.2106+230868C>T) | |
| 3 | g.184375576A>C | CA355463101 | EIF2B5,THPO | c.587T>G (p.Leu196Trp) c.167T>G (p.Leu56Trp) c.2106+230869A>C (n.2106+230869A>C) | |
| 3 | g.184375576A>G | CA355463102 | EIF2B5,THPO | c.587T>C (p.Leu196Ser) c.167T>C (p.Leu56Ser) c.2106+230869A>G (n.2106+230869A>G) | |
| 3 | g.184375576A>T | CA355463103 | EIF2B5,THPO | c.587T>A (p.Leu196Ter) c.167T>A (p.Leu56Ter) c.2106+230869A>T (n.2106+230869A>T) | |
| 3 | g.184375577A>C | CA355463104 | EIF2B5,THPO | c.586T>G (p.Leu196Val) c.166T>G (p.Leu56Val) c.2106+230870A>C (n.2106+230870A>C) | |
| 3 | g.184375577A>G | CA437172664 | EIF2B5,THPO | c.586T>C (p.Leu196=) c.166T>C (p.Leu56=) c.2106+230870A>G (n.2106+230870A>G) | |
| 3 | g.184375577A>T | CA355463105 | EIF2B5,THPO | c.586T>A (p.Leu196Met) c.166T>A (p.Leu56Met) c.2106+230870A>T (n.2106+230870A>T) | |
| 3 | g.184375578A>C | CA437172668 | EIF2B5,THPO | c.585T>G (p.Pro195=) c.165T>G (p.Pro55=) c.2106+230871A>C (n.2106+230871A>C) | gnomAD v4 |
| 3 | g.184375578A>G | CA437172672 | EIF2B5,THPO | c.585T>C (p.Pro195=) c.165T>C (p.Pro55=) c.2106+230871A>G (n.2106+230871A>G) | gnomAD v4 |
| 3 | g.184375578A>T | CA437172670 | EIF2B5,THPO | c.585T>A (p.Pro195=) c.165T>A (p.Pro55=) c.2106+230871A>T (n.2106+230871A>T) | |
| 3 | g.184375579G>A | CA355463108 | EIF2B5,THPO | c.584C>T (p.Pro195Leu) c.164C>T (p.Pro55Leu) c.2106+230872G>A (n.2106+230872G>A) | dbSNP gnomAD v4 |
| 3 | g.184375579G>C | CA355463107 | EIF2B5,THPO | c.584C>G (p.Pro195Arg) c.164C>G (p.Pro55Arg) c.2106+230872G>C (n.2106+230872G>C) | |
| 3 | g.184375579G= | CA1425999020 | EIF2B5,THPO | c.584C= (p.Pro195=) c.164C= (p.Pro55=) c.2106+230872G= (n.2106+230872G=) | |
| 3 | g.184375579G>T | CA355463106 | EIF2B5,THPO | c.584C>A (p.Pro195His) c.164C>A (p.Pro55His) c.2106+230872G>T (n.2106+230872G>T) | |
| 3 | g.184375580G>A | CA355463109 | EIF2B5,THPO | c.583C>T (p.Pro195Ser) c.163C>T (p.Pro55Ser) c.2106+230873G>A (n.2106+230873G>A) | |
| 3 | g.184375580G>C | CA355463110 | EIF2B5,THPO | c.583C>G (p.Pro195Ala) c.163C>G (p.Pro55Ala) c.2106+230873G>C (n.2106+230873G>C) | |
| 3 | g.184375580G>T | CA355463111 | EIF2B5,THPO | c.583C>A (p.Pro195Thr) c.163C>A (p.Pro55Thr) c.2106+230873G>T (n.2106+230873G>T) | |
| 3 | g.184375581G>A | CA2735030 | EIF2B5,THPO | c.582C>T (p.His194=) c.162C>T (p.His54=) c.2106+230874G>A (n.2106+230874G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.184375581G>C | CA355463112 | EIF2B5,THPO | c.582C>G (p.His194Gln) c.162C>G (p.His54Gln) c.2106+230874G>C (n.2106+230874G>C) | |
| 3 | g.184375581G= | CA1425999021 | EIF2B5,THPO | c.582C= (p.His194=) c.162C= (p.His54=) c.2106+230874G= (n.2106+230874G=) | |
| 3 | g.184375581G>T | CA355463113 | EIF2B5,THPO | c.582C>A (p.His194Gln) c.162C>A (p.His54Gln) c.2106+230874G>T (n.2106+230874G>T) | dbSNP |
| 3 | g.184375582T>A | CA355463114 | EIF2B5,THPO | c.581A>T (p.His194Leu) c.161A>T (p.His54Leu) c.2106+230875T>A (n.2106+230875T>A) | |
| 3 | g.184375582T>C | CA355463115 | EIF2B5,THPO | c.581A>G (p.His194Arg) c.161A>G (p.His54Arg) c.2106+230875T>C (n.2106+230875T>C) | |
| 3 | g.184375582T>G | CA355463116 | EIF2B5,THPO | c.581A>C (p.His194Pro) c.161A>C (p.His54Pro) c.2106+230875T>G (n.2106+230875T>G) | |
| 3 | g.184375583G>A | CA355463117 | EIF2B5,THPO | c.580C>T (p.His194Tyr) c.160C>T (p.His54Tyr) c.2106+230876G>A (n.2106+230876G>A) | |
| 3 | g.184375583G>C | CA355463118 | EIF2B5,THPO | c.580C>G (p.His194Asp) c.160C>G (p.His54Asp) c.2106+230876G>C (n.2106+230876G>C) | |
| 3 | g.184375583G>T | CA355463119 | EIF2B5,THPO | c.580C>A (p.His194Asn) c.160C>A (p.His54Asn) c.2106+230876G>T (n.2106+230876G>T) | |
| 3 | g.184375584A>C | CA437172700 | EIF2B5,THPO | c.579T>G (p.Val193=) c.159T>G (p.Val53=) c.2106+230877A>C (n.2106+230877A>C) | |
| 3 | g.184375584A>G | CA437172705 | EIF2B5,THPO | c.579T>C (p.Val193=) c.159T>C (p.Val53=) c.2106+230877A>G (n.2106+230877A>G) | |
| 3 | g.184375584A>T | CA437172708 | EIF2B5,THPO | c.579T>A (p.Val193=) c.159T>A (p.Val53=) c.2106+230877A>T (n.2106+230877A>T) | |
| 3 | g.184375585A>C | CA355463122 | EIF2B5,THPO | c.578T>G (p.Val193Gly) c.158T>G (p.Val53Gly) c.2106+230878A>C (n.2106+230878A>C) | |
| 3 | g.184375585A>G | CA355463121 | EIF2B5,THPO | c.578T>C (p.Val193Ala) c.158T>C (p.Val53Ala) c.2106+230878A>G (n.2106+230878A>G) | |
| 3 | g.184375585A>T | CA355463120 | EIF2B5,THPO | c.578T>A (p.Val193Asp) c.158T>A (p.Val53Asp) c.2106+230878A>T (n.2106+230878A>T) | |
| 3 | g.184375586C>A | CA355463123 | EIF2B5,THPO | c.577G>T (p.Val193Phe) c.157G>T (p.Val53Phe) c.2106+230879C>A (n.2106+230879C>A) | gnomAD v4 |
| 3 | g.184375586C= | CA1425999022 | EIF2B5,THPO | c.577G= (p.Val193=) c.157G= (p.Val53=) c.2106+230879C= (n.2106+230879C=) | |
| 3 | g.184375586C>G | CA355463125 | EIF2B5,THPO | c.577G>C (p.Val193Leu) c.157G>C (p.Val53Leu) c.2106+230879C>G (n.2106+230879C>G) | |
| 3 | g.184375586C>T | CA355463124 | EIF2B5,THPO | c.577G>A (p.Val193Ile) c.157G>A (p.Val53Ile) c.2106+230879C>T (n.2106+230879C>T) | dbSNP gnomAD v4 COSMIC |
| 3 | g.184375587C>A | CA355463126 | EIF2B5,THPO | c.576G>T (p.Glu192Asp) c.156G>T (p.Glu52Asp) c.2106+230880C>A (n.2106+230880C>A) | |
| 3 | g.184375587C>G | CA355463127 | EIF2B5,THPO | c.576G>C (p.Glu192Asp) c.156G>C (p.Glu52Asp) c.2106+230880C>G (n.2106+230880C>G) | |
| 3 | g.184375587C>T | CA437172710 | EIF2B5,THPO | c.576G>A (p.Glu192=) c.156G>A (p.Glu52=) c.2106+230880C>T (n.2106+230880C>T) | gnomAD v4 |
| 3 | g.184375588T>A | CA355463128 | EIF2B5,THPO | c.575A>T (p.Glu192Val) c.155A>T (p.Glu52Val) c.2106+230881T>A (n.2106+230881T>A) | |
| 3 | g.184375588T>C | CA355463129 | EIF2B5,THPO | c.575A>G (p.Glu192Gly) c.155A>G (p.Glu52Gly) c.2106+230881T>C (n.2106+230881T>C) | |
| 3 | g.184375588T>G | CA355463130 | EIF2B5,THPO | c.575A>C (p.Glu192Ala) c.155A>C (p.Glu52Ala) c.2106+230881T>G (n.2106+230881T>G) | |
| 3 | g.184375589C>A | CA355463131 | EIF2B5,THPO | c.574G>T (p.Glu192Ter) c.154G>T (p.Glu52Ter) c.2106+230882C>A (n.2106+230882C>A) | |
| 3 | g.184375589C>G | CA355463132 | EIF2B5,THPO | c.574G>C (p.Glu192Gln) c.154G>C (p.Glu52Gln) c.2106+230882C>G (n.2106+230882C>G) | |
| 3 | g.184375589C>T | CA355463133 | EIF2B5,THPO | c.574G>A (p.Glu192Lys) c.154G>A (p.Glu52Lys) c.2106+230882C>T (n.2106+230882C>T) | |
| 3 | g.184375590T>A | CA437172727 | EIF2B5,THPO | c.573A>T (p.Pro191=) c.153A>T (p.Pro51=) c.2106+230883T>A (n.2106+230883T>A) | |
| 3 | g.184375590T>C | CA437172729 | EIF2B5,THPO | c.573A>G (p.Pro191=) c.153A>G (p.Pro51=) c.2106+230883T>C (n.2106+230883T>C) | |
| 3 | g.184375590T>G | CA437172731 | EIF2B5,THPO | c.573A>C (p.Pro191=) c.153A>C (p.Pro51=) c.2106+230883T>G (n.2106+230883T>G) | |
| 3 | g.184375591G>A | CA355463136 | EIF2B5,THPO | c.572C>T (p.Pro191Leu) c.152C>T (p.Pro51Leu) c.2106+230884G>A (n.2106+230884G>A) | |
| 3 | g.184375591G>C | CA355463134 | EIF2B5,THPO | c.572C>G (p.Pro191Arg) c.152C>G (p.Pro51Arg) c.2106+230884G>C (n.2106+230884G>C) | |
| 3 | g.184375591G>T | CA355463135 | EIF2B5,THPO | c.572C>A (p.Pro191Gln) c.152C>A (p.Pro51Gln) c.2106+230884G>T (n.2106+230884G>T) | |
| 3 | g.184375592G>A | CA355463137 | EIF2B5,THPO | c.571C>T (p.Pro191Ser) c.151C>T (p.Pro51Ser) c.2106+230885G>A (n.2106+230885G>A) | |
| 3 | g.184375592G>C | CA355463138 | EIF2B5,THPO | c.571C>G (p.Pro191Ala) c.151C>G (p.Pro51Ala) c.2106+230885G>C (n.2106+230885G>C) | dbSNP |
| 3 | g.184375592G= | CA1425999023 | EIF2B5,THPO | c.571C= (p.Pro191=) c.151C= (p.Pro51=) c.2106+230885G= (n.2106+230885G=) | |
| 3 | g.184375592G>T | CA355463139 | EIF2B5,THPO | c.571C>A (p.Pro191Thr) c.151C>A (p.Pro51Thr) c.2106+230885G>T (n.2106+230885G>T) | gnomAD v4 |