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 |
|---|---|---|---|---|---|
| 4 | g.71756852G>A | CA439795825 | GC | c.894C>T (p.Asp298=) n.778C>T c.951C>T (p.Asp317=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756852G>C | CA99065873 | GC | c.894C>G (p.Asp298Glu) n.778C>G c.951C>G (p.Asp317Glu) | dbSNP |
| 4 | g.71756852G= | CA1467373237 | GC | c.894C= (p.Asp298=) n.778C= c.951C= (p.Asp317=) | |
| 4 | g.71756852G>T | CA357204937 | GC | c.894C>A (p.Asp298Glu) n.778C>A c.951C>A (p.Asp317Glu) | |
| 4 | g.71756853T>A | CA357204938 | GC | c.893A>T (p.Asp298Val) n.777A>T c.950A>T (p.Asp317Val) | |
| 4 | g.71756853T>C | CA357204939 | GC | c.893A>G (p.Asp298Gly) n.777A>G c.950A>G (p.Asp317Gly) | dbSNP |
| 4 | g.71756853T>G | CA357204940 | GC | c.893A>C (p.Asp298Ala) n.777A>C c.950A>C (p.Asp317Ala) | |
| 4 | g.71756854C>A | CA357204941 | GC | c.892G>T (p.Asp298Tyr) n.776G>T c.949G>T (p.Asp317Tyr) | |
| 4 | g.71756854C>G | CA357204942 | GC | c.892G>C (p.Asp298His) n.776G>C c.949G>C (p.Asp317His) | gnomAD v4 |
| 4 | g.71756854C>T | CA357204943 | GC | c.892G>A (p.Asp298Asn) n.776G>A c.949G>A (p.Asp317Asn) | gnomAD v4 |
| 4 | g.71756855T>A | CA357204945 | GC | c.891A>T (p.Glu297Asp) n.775A>T c.948A>T (p.Glu316Asp) | |
| 4 | g.71756855T>C | CA439795826 | GC | c.891A>G (p.Glu297=) n.775A>G c.948A>G (p.Glu316=) | dbSNP |
| 4 | g.71756855T>G | CA357204944 | GC | c.891A>C (p.Glu297Asp) n.775A>C c.948A>C (p.Glu316Asp) | |
| 4 | g.71756855T= | CA1467373238 | GC | c.891A= (p.Glu297=) n.775A= c.948A= (p.Glu316=) | |
| 4 | g.71756855_71756856del | CA2524549929 | GC | c.890_891del (p.Glu297GlyfsTer?) n.774_775del c.947_948del (p.Glu316GlyfsTer?) | |
| 4 | g.71756856T>A | CA357204946 | GC | c.890A>T (p.Glu297Val) n.774A>T c.947A>T (p.Glu316Val) | |
| 4 | g.71756856T>C | CA357204947 | GC | c.890A>G (p.Glu297Gly) n.774A>G c.947A>G (p.Glu316Gly) | |
| 4 | g.71756856T>G | CA357204948 | GC | c.890A>C (p.Glu297Ala) n.774A>C c.947A>C (p.Glu316Ala) | |
| 4 | g.71756857C>A | CA357204949 | GC | c.889G>T (p.Glu297Ter) n.773G>T c.946G>T (p.Glu316Ter) | |
| 4 | g.71756857C>G | CA357204950 | GC | c.889G>C (p.Glu297Gln) n.773G>C c.946G>C (p.Glu316Gln) | dbSNP |
| 4 | g.71756857C>T | CA357204951 | GC | c.889G>A (p.Glu297Lys) n.773G>A c.946G>A (p.Glu316Lys) | |
| 4 | g.71756857_71756858insGT | CA2506207256 | GC | c.888_889insAC (p.Glu297ThrfsTer?) n.772_773insAC c.945_946insAC (p.Glu316ThrfsTer?) | |
| 4 | g.71756858A>C | CA357204952 | GC | c.888T>G (p.Phe296Leu) n.772T>G c.945T>G (p.Phe315Leu) | |
| 4 | g.71756858A>G | CA439795827 | GC | c.888T>C (p.Phe296=) n.772T>C c.945T>C (p.Phe315=) | |
| 4 | g.71756858A>T | CA357204953 | GC | c.888T>A (p.Phe296Leu) n.772T>A c.945T>A (p.Phe315Leu) | |
| 4 | g.71756859A= | CA1467373239 | GC | c.887T= (p.Phe296=) n.771T= c.944T= (p.Phe315=) | |
| 4 | g.71756859A>C | CA357204954 | GC | c.887T>G (p.Phe296Cys) n.771T>G c.944T>G (p.Phe315Cys) | gnomAD v4 |
| 4 | g.71756859A>G | CA357204955 | GC | c.887T>C (p.Phe296Ser) n.771T>C c.944T>C (p.Phe315Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756859A>T | CA357204956 | GC | c.887T>A (p.Phe296Tyr) n.771T>A c.944T>A (p.Phe315Tyr) | |
| 4 | g.71756860A= | CA1467373240 | GC | c.886T= (p.Phe296=) n.770T= c.943T= (p.Phe315=) | |
| 4 | g.71756860A>C | CA357204957 | GC | c.886T>G (p.Phe296Val) n.770T>G c.943T>G (p.Phe315Val) | |
| 4 | g.71756860A>G | CA357204958 | GC | c.886T>C (p.Phe296Leu) n.770T>C c.943T>C (p.Phe315Leu) | |
| 4 | g.71756860A>T | CA99065874 | GC | c.886T>A (p.Phe296Ile) n.770T>A c.943T>A (p.Phe315Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756861C>A | CA357204959 | GC | c.885G>T (p.Lys295Asn) n.769G>T c.942G>T (p.Lys314Asn) | |
| 4 | g.71756861C>G | CA357204960 | GC | c.885G>C (p.Lys295Asn) n.769G>C c.942G>C (p.Lys314Asn) | |
| 4 | g.71756861C>T | CA439795828 | GC | c.885G>A (p.Lys295=) n.769G>A c.942G>A (p.Lys314=) | |
| 4 | g.71756862T>A | CA357204961 | GC | c.884A>T (p.Lys295Met) n.768A>T c.941A>T (p.Lys314Met) | |
| 4 | g.71756862T>C | CA357204962 | GC | c.884A>G (p.Lys295Arg) n.768A>G c.941A>G (p.Lys314Arg) | |
| 4 | g.71756862T>G | CA357204963 | GC | c.884A>C (p.Lys295Thr) n.768A>C c.941A>C (p.Lys314Thr) | |
| 4 | g.71756863T>A | CA357204964 | GC | c.883A>T (p.Lys295Ter) n.767A>T c.940A>T (p.Lys314Ter) | |
| 4 | g.71756863T>C | CA357204965 | GC | c.883A>G (p.Lys295Glu) n.767A>G c.940A>G (p.Lys314Glu) | |
| 4 | g.71756863T>G | CA357204966 | GC | c.883A>C (p.Lys295Gln) n.767A>C c.940A>C (p.Lys314Gln) | |
| 4 | g.71756864A= | CA1467373241 | GC | c.882T= (p.Ser294=) n.766T= c.939T= (p.Ser313=) | |
| 4 | g.71756864A>C | CA439795829 | GC | c.882T>G (p.Ser294=) n.766T>G c.939T>G (p.Ser313=) | |
| 4 | g.71756864A>G | CA2955550 | GC | c.882T>C (p.Ser294=) n.766T>C c.939T>C (p.Ser313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756864A>T | CA439795830 | GC | c.882T>A (p.Ser294=) n.766T>A c.939T>A (p.Ser313=) | |
| 4 | g.71756865G>A | CA2955551 | GC | c.881C>T (p.Ser294Phe) n.765C>T c.938C>T (p.Ser313Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756865G>C | CA357204967 | GC | c.881C>G (p.Ser294Cys) n.765C>G c.938C>G (p.Ser313Cys) | |
| 4 | g.71756865G= | CA1467373242 | GC | c.881C= (p.Ser294=) n.765C= c.938C= (p.Ser313=) | |
| 4 | g.71756865G>T | CA357204968 | GC | c.881C>A (p.Ser294Tyr) n.765C>A c.938C>A (p.Ser313Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756866A>C | CA357204969 | GC | c.880T>G (p.Ser294Ala) n.764T>G c.937T>G (p.Ser313Ala) | |
| 4 | g.71756866A>G | CA357204970 | GC | c.880T>C (p.Ser294Pro) n.764T>C c.937T>C (p.Ser313Pro) | |
| 4 | g.71756866A>T | CA357204971 | GC | c.880T>A (p.Ser294Thr) n.764T>A c.937T>A (p.Ser313Thr) | |
| 4 | g.71756867A>C | CA357204972 | GC | c.879T>G (p.Asn293Lys) n.763T>G c.936T>G (p.Asn312Lys) | |
| 4 | g.71756867A>G | CA439795831 | GC | c.879T>C (p.Asn293=) n.763T>C c.936T>C (p.Asn312=) | gnomAD v4 |
| 4 | g.71756867A>T | CA357204973 | GC | c.879T>A (p.Asn293Lys) n.763T>A c.936T>A (p.Asn312Lys) | |
| 4 | g.71756868T>A | CA357204974 | GC | c.878A>T (p.Asn293Ile) n.762A>T c.935A>T (p.Asn312Ile) | |
| 4 | g.71756868T>C | CA357204976 | GC | c.878A>G (p.Asn293Ser) n.762A>G c.935A>G (p.Asn312Ser) | |
| 4 | g.71756868T>G | CA357204975 | GC | c.878A>C (p.Asn293Thr) n.762A>C c.935A>C (p.Asn312Thr) | |
| 4 | g.71756869T>A | CA357204977 | GC | c.877A>T (p.Asn293Tyr) n.761A>T c.934A>T (p.Asn312Tyr) | |
| 4 | g.71756869T>C | CA357204979 | GC | c.877A>G (p.Asn293Asp) n.761A>G c.934A>G (p.Asn312Asp) | dbSNP gnomAD v4 |
| 4 | g.71756869T>G | CA357204978 | GC | c.877A>C (p.Asn293His) n.761A>C c.934A>C (p.Asn312His) | |
| 4 | g.71756869T= | CA1467373243 | GC | c.877A= (p.Asn293=) n.761A= c.934A= (p.Asn312=) | |
| 4 | g.71756870C>A | CA357204980 | GC | c.876G>T (p.Lys292Asn) n.760G>T c.933G>T (p.Lys311Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.71756870C= | CA1467373244 | GC | c.876G= (p.Lys292=) n.760G= c.933G= (p.Lys311=) | |
| 4 | g.71756870C>G | CA357204981 | GC | c.876G>C (p.Lys292Asn) n.760G>C c.933G>C (p.Lys311Asn) | |
| 4 | g.71756870C>T | CA439795832 | GC | c.876G>A (p.Lys292=) n.760G>A c.933G>A (p.Lys311=) | |
| 4 | g.71756871T>A | CA357204982 | GC | c.875A>T (p.Lys292Met) n.759A>T c.932A>T (p.Lys311Met) | |
| 4 | g.71756871T>C | CA357204983 | GC | c.875A>G (p.Lys292Arg) n.759A>G c.932A>G (p.Lys311Arg) | |
| 4 | g.71756871T>G | CA357204984 | GC | c.875A>C (p.Lys292Thr) n.759A>C c.932A>C (p.Lys311Thr) | |
| 4 | g.71756872T>A | CA357204985 | GC | c.874A>T (p.Lys292Ter) n.758A>T c.931A>T (p.Lys311Ter) | |
| 4 | g.71756872T>C | CA357204986 | GC | c.874A>G (p.Lys292Glu) n.758A>G c.931A>G (p.Lys311Glu) | |
| 4 | g.71756872T>G | CA357204987 | GC | c.874A>C (p.Lys292Gln) n.758A>C c.931A>C (p.Lys311Gln) | |
| 4 | g.71756873T>A | CA439795835 | GC | c.873A>T (p.Thr291=) n.757A>T c.930A>T (p.Thr310=) | |
| 4 | g.71756873T>C | CA439795833 | GC | c.873A>G (p.Thr291=) n.757A>G c.930A>G (p.Thr310=) | |
| 4 | g.71756873T>G | CA439795834 | GC | c.873A>C (p.Thr291=) n.757A>C c.930A>C (p.Thr310=) | |
| 4 | g.71756874G>A | CA357204988 | GC | c.872C>T (p.Thr291Ile) n.756C>T c.929C>T (p.Thr310Ile) | |
| 4 | g.71756874G>C | CA357204989 | GC | c.872C>G (p.Thr291Arg) n.756C>G c.929C>G (p.Thr310Arg) | |
| 4 | g.71756874G>T | CA357204990 | GC | c.872C>A (p.Thr291Lys) n.756C>A c.929C>A (p.Thr310Lys) | |
| 4 | g.71756875T>A | CA357204993 | GC | c.871A>T (p.Thr291Ser) n.755A>T c.928A>T (p.Thr310Ser) | |
| 4 | g.71756875T>C | CA357204991 | GC | c.871A>G (p.Thr291Ala) n.755A>G c.928A>G (p.Thr310Ala) | COSMIC COSMIC |
| 4 | g.71756875T>G | CA357204992 | GC | c.871A>C (p.Thr291Pro) n.755A>C c.928A>C (p.Thr310Pro) | |
| 4 | g.71756876G>A | CA439795836 | GC | c.870C>T (p.Ser290=) n.754C>T c.927C>T (p.Ser309=) | dbSNP COSMIC COSMIC |
| 4 | g.71756876G>C | CA439795837 | GC | c.870C>G (p.Ser290=) n.754C>G c.927C>G (p.Ser309=) | |
| 4 | g.71756876G>T | CA439795838 | GC | c.870C>A (p.Ser290=) n.754C>A c.927C>A (p.Ser309=) | |
| 4 | g.71756877del | CA2670941963 | GC | c.870del (p.Thr291GlnfsTer?) n.754del c.927del (p.Thr310GlnfsTer?) | gnomAD v4 |
| 4 | g.71756877G>A | CA357204994 | GC | c.869C>T (p.Ser290Phe) n.753C>T c.926C>T (p.Ser309Phe) | gnomAD v4 |
| 4 | g.71756877G>C | CA357204995 | GC | c.869C>G (p.Ser290Cys) n.753C>G c.926C>G (p.Ser309Cys) | |
| 4 | g.71756877G= | CA1467373245 | GC | c.869C= (p.Ser290=) n.753C= c.926C= (p.Ser309=) | |
| 4 | g.71756877G>T | CA99065880 | GC | c.869C>A (p.Ser290Tyr) n.753C>A c.926C>A (p.Ser309Tyr) | dbSNP |
| 4 | g.71756878A>C | CA357204996 | GC | c.868T>G (p.Ser290Ala) n.752T>G c.925T>G (p.Ser309Ala) | |
| 4 | g.71756878A>G | CA357204997 | GC | c.868T>C (p.Ser290Pro) n.752T>C c.925T>C (p.Ser309Pro) | |
| 4 | g.71756878A>T | CA357204998 | GC | c.868T>A (p.Ser290Thr) n.752T>A c.925T>A (p.Ser309Thr) | |
| 4 | g.71756879T>A | CA357204999 | GC | c.867A>T (p.Leu289Phe) n.751A>T c.924A>T (p.Leu308Phe) | |
| 4 | g.71756879T>C | CA439795842 | GC | c.867A>G (p.Leu289=) n.751A>G c.924A>G (p.Leu308=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756879T>G | CA357205000 | GC | c.867A>C (p.Leu289Phe) n.751A>C c.924A>C (p.Leu308Phe) | |
| 4 | g.71756879T= | CA1467373246 | GC | c.867A= (p.Leu289=) n.751A= c.924A= (p.Leu308=) | |
| 4 | g.71756880A= | CA1467373247 | GC | c.866T= (p.Leu289=) n.750T= c.923T= (p.Leu308=) | |
| 4 | g.71756880A>C | CA357205001 | GC | c.866T>G (p.Leu289Ter) n.750T>G c.923T>G (p.Leu308Ter) | |
| 4 | g.71756880A>G | CA2955552 | GC | c.866T>C (p.Leu289Ser) n.750T>C c.923T>C (p.Leu308Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.71756880A>T | CA357205002 | GC | c.866T>A (p.Leu289Ter) n.750T>A c.923T>A (p.Leu308Ter) | |
| 4 | g.71756881A>C | CA357205004 | GC | c.865T>G (p.Leu289Val) n.749T>G c.922T>G (p.Leu308Val) | |
| 4 | g.71756881A>G | CA439795845 | GC | c.865T>C (p.Leu289=) n.749T>C c.922T>C (p.Leu308=) | gnomAD v4 |
| 4 | g.71756881A>T | CA357205003 | GC | c.865T>A (p.Leu289Ile) n.749T>A c.922T>A (p.Leu308Ile) | |
| 4 | g.71756882A= | CA1467373248 | GC | c.864T= (p.Asn288=) n.748T= c.921T= (p.Asn307=) | |
| 4 | g.71756882A>C | CA357205005 | GC | c.864T>G (p.Asn288Lys) n.748T>G c.921T>G (p.Asn307Lys) | |
| 4 | g.71756882A>G | CA439795846 | GC | c.864T>C (p.Asn288=) n.748T>C c.921T>C (p.Asn307=) | |
| 4 | g.71756882A>T | CA99065892 | GC | c.864T>A (p.Asn288Lys) n.748T>A c.921T>A (p.Asn307Lys) | dbSNP gnomAD v4 |
| 4 | g.71756883T>A | CA357205006 | GC | c.863A>T (p.Asn288Ile) n.747A>T c.920A>T (p.Asn307Ile) | |
| 4 | g.71756883T>C | CA357205007 | GC | c.863A>G (p.Asn288Ser) n.747A>G c.920A>G (p.Asn307Ser) | |
| 4 | g.71756883T>G | CA357205008 | GC | c.863A>C (p.Asn288Thr) n.747A>C c.920A>C (p.Asn307Thr) | |
| 4 | g.71756884T>A | CA357205010 | GC | c.862A>T (p.Asn288Tyr) n.746A>T c.919A>T (p.Asn307Tyr) | |
| 4 | g.71756884T>C | CA2955553 | GC | c.862A>G (p.Asn288Asp) n.746A>G c.919A>G (p.Asn307Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756884T>G | CA357205009 | GC | c.862A>C (p.Asn288His) n.746A>C c.919A>C (p.Asn307His) | |
| 4 | g.71756884T= | CA1467373249 | GC | c.862A= (p.Asn288=) n.746A= c.919A= (p.Asn307=) | |
| 4 | g.71756885G>A | CA2955554 | GC | c.861C>T (p.Asp287=) n.745C>T c.918C>T (p.Asp306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756885G>C | CA357205011 | GC | c.861C>G (p.Asp287Glu) n.745C>G c.918C>G (p.Asp306Glu) | |
| 4 | g.71756885G= | CA1467373250 | GC | c.861C= (p.Asp287=) n.745C= c.918C= (p.Asp306=) | |
| 4 | g.71756885G>T | CA357205012 | GC | c.861C>A (p.Asp287Glu) n.745C>A c.918C>A (p.Asp306Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71756886T>A | CA357205013 | GC | c.860A>T (p.Asp287Val) n.744A>T c.917A>T (p.Asp306Val) | gnomAD v4 COSMIC |
| 4 | g.71756886T>C | CA357205014 | GC | c.860A>G (p.Asp287Gly) n.744A>G c.917A>G (p.Asp306Gly) | |
| 4 | g.71756886T>G | CA357205015 | GC | c.860A>C (p.Asp287Ala) n.744A>C c.917A>C (p.Asp306Ala) | |
| 4 | g.71756887C>A | CA357205016 | GC | c.859G>T (p.Asp287Tyr) n.743G>T c.916G>T (p.Asp306Tyr) | |
| 4 | g.71756887C>G | CA357205018 | GC | c.859G>C (p.Asp287His) n.743G>C c.916G>C (p.Asp306His) | |
| 4 | g.71756887C>T | CA357205017 | GC | c.859G>A (p.Asp287Asn) n.743G>A c.916G>A (p.Asp306Asn) | |
| 4 | g.71756888A= | CA1467373251 | GC | c.858T= (p.Cys286=) n.742T= c.915T= (p.Cys305=) | |
| 4 | g.71756888A>C | CA357205019 | GC | c.858T>G (p.Cys286Trp) n.742T>G c.915T>G (p.Cys305Trp) | |
| 4 | g.71756888A>G | CA439795851 | GC | c.858T>C (p.Cys286=) n.742T>C c.915T>C (p.Cys305=) | dbSNP |
| 4 | g.71756888A>T | CA357205020 | GC | c.858T>A (p.Cys286Ter) n.742T>A c.915T>A (p.Cys305Ter) | gnomAD v4 |
| 4 | g.71756889C>A | CA357205021 | GC | c.857G>T (p.Cys286Phe) n.741G>T c.914G>T (p.Cys305Phe) | |
| 4 | g.71756889C= | CA1467373252 | GC | c.857G= (p.Cys286=) n.741G= c.914G= (p.Cys305=) | |
| 4 | g.71756889C>G | CA357205022 | GC | c.857G>C (p.Cys286Ser) n.741G>C c.914G>C (p.Cys305Ser) | |
| 4 | g.71756889C>T | CA357205023 | GC | c.857G>A (p.Cys286Tyr) n.741G>A c.914G>A (p.Cys305Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756889_71756891delinsCAG | CA1467373253 | GC | c.855_857delinsCTG (p.Leu285=) n.739_741delinsCTG c.912_914delinsCTG (p.Leu304=) | |
| 4 | g.71756890A>C | CA357205024 | GC | c.856T>G (p.Cys286Gly) n.740T>G c.913T>G (p.Cys305Gly) | gnomAD v3 gnomAD v4 |
| 4 | g.71756890A>G | CA357205025 | GC | c.856T>C (p.Cys286Arg) n.740T>C c.913T>C (p.Cys305Arg) | |
| 4 | g.71756890A>T | CA357205026 | GC | c.856T>A (p.Cys286Ser) n.740T>A c.913T>A (p.Cys305Ser) | |
| 4 | g.71756892_71756893del | CA1467373254 | GC | c.855_856del (p.Cys286Ter) n.739_740del c.912_913del (p.Cys305Ter) | dbSNP gnomAD v4 |
| 4 | g.71756891G>A | CA439795853 | GC | c.855C>T (p.Leu285=) n.739C>T c.912C>T (p.Leu304=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71756891G>C | CA439795854 | GC | c.855C>G (p.Leu285=) n.739C>G c.912C>G (p.Leu304=) | |
| 4 | g.71756891G= | CA1467373255 | GC | c.855C= (p.Leu285=) n.739C= c.912C= (p.Leu304=) | |
| 4 | g.71756891G>T | CA439795855 | GC | c.855C>A (p.Leu285=) n.739C>A c.912C>A (p.Leu304=) | |
| 4 | g.71756892A= | CA1467373256 | GC | c.854T= (p.Leu285=) n.738T= c.911T= (p.Leu304=) | |
| 4 | g.71756892A>C | CA357205027 | GC | c.854T>G (p.Leu285Arg) n.738T>G c.911T>G (p.Leu304Arg) | |
| 4 | g.71756892A>G | CA357205028 | GC | c.854T>C (p.Leu285Pro) n.738T>C c.911T>C (p.Leu304Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756892A>T | CA357205029 | GC | c.854T>A (p.Leu285His) n.738T>A c.911T>A (p.Leu304His) | COSMIC COSMIC |
| 4 | g.71756893G>A | CA357205032 | GC | c.853C>T (p.Leu285Phe) n.737C>T c.910C>T (p.Leu304Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756893G>C | CA357205031 | GC | c.853C>G (p.Leu285Val) n.737C>G c.910C>G (p.Leu304Val) | |
| 4 | g.71756893G= | CA1467373257 | GC | c.853C= (p.Leu285=) n.737C= c.910C= (p.Leu304=) | |
| 4 | g.71756893G>T | CA357205030 | GC | c.853C>A (p.Leu285Ile) n.737C>A c.910C>A (p.Leu304Ile) | gnomAD v4 |
| 4 | g.71756894T>A | CA357205033 | GC | c.852A>T (p.Lys284Asn) n.736A>T c.909A>T (p.Lys303Asn) | |
| 4 | g.71756894T>C | CA2955555 | GC | c.852A>G (p.Lys284=) n.736A>G c.909A>G (p.Lys303=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756894T>G | CA357205034 | GC | c.852A>C (p.Lys284Asn) n.736A>C c.909A>C (p.Lys303Asn) | gnomAD v4 |
| 4 | g.71756894T= | CA1467373258 | GC | c.852A= (p.Lys284=) n.736A= c.909A= (p.Lys303=) | |
| 4 | g.71756895T>A | CA357205035 | GC | c.851A>T (p.Lys284Ile) n.735A>T c.908A>T (p.Lys303Ile) | |
| 4 | g.71756895T>C | CA357205036 | GC | c.851A>G (p.Lys284Arg) n.735A>G c.908A>G (p.Lys303Arg) | |
| 4 | g.71756895T>G | CA357205037 | GC | c.851A>C (p.Lys284Thr) n.735A>C c.908A>C (p.Lys303Thr) | |
| 4 | g.71756896T>A | CA357205038 | GC | c.850A>T (p.Lys284Ter) n.734A>T c.907A>T (p.Lys303Ter) | |
| 4 | g.71756896T>C | CA357205039 | GC | c.850A>G (p.Lys284Glu) n.734A>G c.907A>G (p.Lys303Glu) | |
| 4 | g.71756896T>G | CA357205040 | GC | c.850A>C (p.Lys284Gln) n.734A>C c.907A>C (p.Lys303Gln) | |
| 4 | g.71756897T>A | CA439795860 | GC | c.849A>T (p.Val283=) n.733A>T c.906A>T (p.Val302=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756897T>C | CA439795861 | GC | c.849A>G (p.Val283=) n.733A>G c.906A>G (p.Val302=) | |
| 4 | g.71756897T>G | CA439795862 | GC | c.849A>C (p.Val283=) n.733A>C c.906A>C (p.Val302=) | |
| 4 | g.71756897T= | CA1467373259 | GC | c.849A= (p.Val283=) n.733A= c.906A= (p.Val302=) | |
| 4 | g.71756898A= | CA1467373260 | GC | c.848T= (p.Val283=) n.732T= c.905T= (p.Val302=) | |
| 4 | g.71756898A>C | CA357205041 | GC | c.848T>G (p.Val283Gly) n.732T>G c.905T>G (p.Val302Gly) | |
| 4 | g.71756898A>G | CA357205042 | GC | c.848T>C (p.Val283Ala) n.732T>C c.905T>C (p.Val302Ala) | dbSNP gnomAD v4 |
| 4 | g.71756898A>T | CA357205043 | GC | c.848T>A (p.Val283Glu) n.732T>A c.905T>A (p.Val302Glu) | |
| 4 | g.71756899C>A | CA357205044 | GC | c.847G>T (p.Val283Leu) n.731G>T c.904G>T (p.Val302Leu) | |
| 4 | g.71756899C= | CA1467373261 | GC | c.847G= (p.Val283=) n.731G= c.904G= (p.Val302=) | |
| 4 | g.71756899C>G | CA357205045 | GC | c.847G>C (p.Val283Leu) n.731G>C c.904G>C (p.Val302Leu) | gnomAD v4 |
| 4 | g.71756899C>T | CA2955556 | GC | c.847G>A (p.Val283Ile) n.731G>A c.904G>A (p.Val302Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.71756899_71756906dup | CA2670941964 | GC | c.840_847dup (p.Val283AspfsTer4) n.724_731dup c.897_904dup (p.Val302AspfsTer4) | gnomAD v4 |
| 4 | g.71756900T>A | CA439795866 | GC | c.846A>T (p.Thr282=) n.730A>T c.903A>T (p.Thr301=) | gnomAD v4 |
| 4 | g.71756900T>C | CA439795865 | GC | c.846A>G (p.Thr282=) n.730A>G c.903A>G (p.Thr301=) | |
| 4 | g.71756900T>G | CA439795867 | GC | c.846A>C (p.Thr282=) n.730A>C c.903A>C (p.Thr301=) | |
| 4 | g.71756901G>A | CA357205048 | GC | c.845C>T (p.Thr282Ile) n.729C>T c.902C>T (p.Thr301Ile) | |
| 4 | g.71756901G>C | CA357205046 | GC | c.845C>G (p.Thr282Arg) n.729C>G c.902C>G (p.Thr301Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756901G= | CA1467373262 | GC | c.845C= (p.Thr282=) n.729C= c.902C= (p.Thr301=) | |
| 4 | g.71756901G>T | CA357205047 | GC | c.845C>A (p.Thr282Lys) n.729C>A c.902C>A (p.Thr301Lys) | gnomAD v4 |
| 4 | g.71756902T>A | CA357205049 | GC | c.844A>T (p.Thr282Ser) n.728A>T c.901A>T (p.Thr301Ser) | |
| 4 | g.71756902T>C | CA357205050 | GC | c.844A>G (p.Thr282Ala) n.728A>G c.901A>G (p.Thr301Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756902T>G | CA357205051 | GC | c.844A>C (p.Thr282Pro) n.728A>C c.901A>C (p.Thr301Pro) | |
| 4 | g.71756902T= | CA1467373263 | GC | c.844A= (p.Thr282=) n.728A= c.901A= (p.Thr301=) | |
| 4 | g.71756903G>A | CA439795871 | GC | c.843C>T (p.His281=) n.727C>T c.900C>T (p.His300=) | dbSNP |
| 4 | g.71756903G>C | CA357205052 | GC | c.843C>G (p.His281Gln) n.727C>G c.900C>G (p.His300Gln) | |
| 4 | g.71756903G= | CA1467373264 | GC | c.843C= (p.His281=) n.727C= c.900C= (p.His300=) | |
| 4 | g.71756903G>T | CA357205053 | GC | c.843C>A (p.His281Gln) n.727C>A c.900C>A (p.His300Gln) | |
| 4 | g.71756904T>A | CA357205054 | GC | c.842A>T (p.His281Leu) n.726A>T c.899A>T (p.His300Leu) | |
| 4 | g.71756904T>C | CA2955557 | GC | c.842A>G (p.His281Arg) n.726A>G c.899A>G (p.His300Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756904T>G | CA357205055 | GC | c.842A>C (p.His281Pro) n.726A>C c.899A>C (p.His300Pro) | |
| 4 | g.71756904T= | CA1467373265 | GC | c.842A= (p.His281=) n.726A= c.899A= (p.His300=) | |
| 4 | g.71756905G>A | CA357205056 | GC | c.841C>T (p.His281Tyr) n.725C>T c.898C>T (p.His300Tyr) | dbSNP gnomAD v4 |
| 4 | g.71756905G>C | CA357205057 | GC | c.841C>G (p.His281Asp) n.725C>G c.898C>G (p.His300Asp) | |
| 4 | g.71756905G= | CA1467373266 | GC | c.841C= (p.His281=) n.725C= c.898C= (p.His300=) | |
| 4 | g.71756905G>T | CA357205058 | GC | c.841C>A (p.His281Asn) n.725C>A c.898C>A (p.His300Asn) | gnomAD v4 |
| 4 | g.71756906T>A | CA357205063 | GC | c.840A>T (p.Glu280Asp) n.724A>T c.897A>T (p.Glu299Asp) | |
| 4 | g.71756906T>C | CA2955558 | GC | c.840A>G (p.Glu280=) n.724A>G c.897A>G (p.Glu299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756906T>G | CA357205060 | GC | c.840A>C (p.Glu280Asp) n.724A>C c.897A>C (p.Glu299Asp) | |
| 4 | g.71756906T= | CA1467373267 | GC | c.840A= (p.Glu280=) n.724A= c.897A= (p.Glu299=) | |
| 4 | g.71756907T>A | CA357205065 | GC | c.839A>T (p.Glu280Val) n.723A>T c.896A>T (p.Glu299Val) | |
| 4 | g.71756907T>C | CA357205067 | GC | c.839A>G (p.Glu280Gly) n.723A>G c.896A>G (p.Glu299Gly) | |
| 4 | g.71756907T>G | CA357205069 | GC | c.839A>C (p.Glu280Ala) n.723A>C c.896A>C (p.Glu299Ala) | |
| 4 | g.71756908del | CA2670941965 | GC | c.838del (p.Glu280AsnfsTer4) n.722del c.895del (p.Glu299AsnfsTer4) | gnomAD v4 |
| 4 | g.71756908C>A | CA357205072 | GC | c.838G>T (p.Glu280Ter) n.722G>T c.895G>T (p.Glu299Ter) | |
| 4 | g.71756908C= | CA1467373268 | GC | c.838G= (p.Glu280=) n.722G= c.895G= (p.Glu299=) | |
| 4 | g.71756908C>G | CA357205073 | GC | c.838G>C (p.Glu280Gln) n.722G>C c.895G>C (p.Glu299Gln) | |
| 4 | g.71756908C>T | CA357205074 | GC | c.838G>A (p.Glu280Lys) n.722G>A c.895G>A (p.Glu299Lys) | dbSNP gnomAD v4 |
| 4 | g.71756909A= | CA1467373269 | GC | c.837T= (p.Pro279=) n.721T= c.894T= (p.Pro298=) | |
| 4 | g.71756909A>C | CA2955559 | GC | c.837T>G (p.Pro279=) n.721T>G c.894T>G (p.Pro298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756909A>G | CA439795877 | GC | c.837T>C (p.Pro279=) n.721T>C c.894T>C (p.Pro298=) | |
| 4 | g.71756909A>T | CA439795878 | GC | c.837T>A (p.Pro279=) n.721T>A c.894T>A (p.Pro298=) | |
| 4 | g.71756910G>A | CA357205077 | GC | c.836C>T (p.Pro279Leu) n.720C>T c.893C>T (p.Pro298Leu) | |
| 4 | g.71756910G>C | CA357205079 | GC | c.836C>G (p.Pro279Arg) n.720C>G c.893C>G (p.Pro298Arg) | gnomAD v4 |
| 4 | g.71756910G>T | CA357205080 | GC | c.836C>A (p.Pro279His) n.720C>A c.893C>A (p.Pro298His) | |
| 4 | g.71756911G>A | CA2955560 | GC | c.835C>T (p.Pro279Ser) n.719C>T c.892C>T (p.Pro298Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.71756911G>C | CA357205085 | GC | c.835C>G (p.Pro279Ala) n.719C>G c.892C>G (p.Pro298Ala) | |
| 4 | g.71756911G= | CA1467373270 | GC | c.835C= (p.Pro279=) n.719C= c.892C= (p.Pro298=) | |
| 4 | g.71756911G>T | CA357205087 | GC | c.835C>A (p.Pro279Thr) n.719C>A c.892C>A (p.Pro298Thr) | |
| 4 | g.71756912C>A | CA439795881 | GC | c.834G>T (p.Leu278=) n.718G>T c.891G>T (p.Leu297=) | dbSNP gnomAD v4 |
| 4 | g.71756912C= | CA1467373271 | GC | c.834G= (p.Leu278=) n.718G= c.891G= (p.Leu297=) | |
| 4 | g.71756912C>G | CA439795882 | GC | c.834G>C (p.Leu278=) n.718G>C c.891G>C (p.Leu297=) | |
| 4 | g.71756912C>T | CA439795883 | GC | c.834G>A (p.Leu278=) n.718G>A c.891G>A (p.Leu297=) | dbSNP gnomAD v4 |
| 4 | g.71756912_71756913delinsCA | CA1467373272 | GC | c.833_834delinsTG (p.Leu278=) n.717_718delinsTG c.890_891delinsTG (p.Leu297=) | |
| 4 | g.71756913_71756923del | CA2670941966 | GC | c.832-8_834del n.716-8_718del c.889-8_891del | gnomAD v4 |
| 4 | g.71756913del | CA917223490 | GC | c.833del (p.Leu278ArgfsTer6) n.717del c.890del (p.Leu297ArgfsTer6) | dbSNP |
| 4 | g.71756913A>C | CA357205093 | GC | c.833T>G (p.Leu278Arg) n.717T>G c.890T>G (p.Leu297Arg) | |
| 4 | g.71756913A>G | CA357205089 | GC | c.833T>C (p.Leu278Pro) n.717T>C c.890T>C (p.Leu297Pro) | |
| 4 | g.71756913A>T | CA357205090 | GC | c.833T>A (p.Leu278Gln) n.717T>A c.890T>A (p.Leu297Gln) | |
| 4 | g.71756914G>A | CA439795887 | GC | c.832C>T (p.Leu278=) n.716C>T c.889C>T (p.Leu297=) | |
| 4 | g.71756914G>C | CA357205095 | GC | c.832C>G (p.Leu278Val) n.716C>G c.889C>G (p.Leu297Val) | |
| 4 | g.71756914G>T | CA357205097 | GC | c.832C>A (p.Leu278Met) n.716C>A c.889C>A (p.Leu297Met) | gnomAD v4 |
| 4 | g.71756915C>A | CA357205100 | GC | c.832-1G>T (n.832-1G>T) n.716-1G>T c.889-1G>T (n.889-1G>T) | |
| 4 | g.71756915C>G | CA357205101 | GC | c.832-1G>C (n.832-1G>C) n.716-1G>C c.889-1G>C (n.889-1G>C) | |
| 4 | g.71756915C>T | CA357205104 | GC | c.832-1G>A (n.832-1G>A) n.716-1G>A c.889-1G>A (n.889-1G>A) | COSMIC COSMIC |
| 4 | g.71756916T>A | CA357205106 | GC | c.832-2A>T (n.832-2A>T) n.716-2A>T c.889-2A>T (n.889-2A>T) | |
| 4 | g.71756916T>C | CA357205108 | GC | c.832-2A>G (n.832-2A>G) n.716-2A>G c.889-2A>G (n.889-2A>G) | gnomAD v4 |
| 4 | g.71756916T>G | CA357205110 | GC | c.832-2A>C (n.832-2A>C) n.716-2A>C c.889-2A>C (n.889-2A>C) | |
| 4 | g.71756916_71756917insCTTTGGCCATGCAATCTTCAGAGGCAGACTC | CA2706447730 | GC | c.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.832-3_832-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG) n.716-3_716-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG c.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.889-3_889-2insGAGTCTGCCTCTGAAGATTGCATGGCCAAAG) | dbSNP |
| 4 | g.71756916_71756917insCTTTGGCCATGCAATCTTCAGAGGCAGACTCACAGCATTTGGAGAGG | CA2706447729 | GC | c.832-3_832-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.832-3_832-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG) n.716-3_716-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG c.889-3_889-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG (n.889-3_889-2insCCTCTCCAAATGCTGTGAGTCTGCCTCTGAAGATTGCATGGCCAAAG) | dbSNP |
| 4 | g.71756920A>G | CA2670941967 | GC | c.832-6T>C (n.832-6T>C) n.716-6T>C c.889-6T>C (n.889-6T>C) | gnomAD v4 |
| 4 | g.71756923C= | CA1467373273 | GC | c.832-9G= (n.832-9G=) n.716-9G= c.889-9G= (n.889-9G=) | |
| 4 | g.71756923C>T | CA2955561 | GC | c.832-9G>A (n.832-9G>A) n.716-9G>A c.889-9G>A (n.889-9G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756924G>A | CA2955562 | GC | c.832-10C>T (n.832-10C>T) n.716-10C>T c.889-10C>T (n.889-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756924G>C | CA2670941968 | GC | c.832-10C>G (n.832-10C>G) n.716-10C>G c.889-10C>G (n.889-10C>G) | gnomAD v4 |
| 4 | g.71756924G= | CA1467373274 | GC | c.832-10C= (n.832-10C=) n.716-10C= c.889-10C= (n.889-10C=) | |
| 4 | g.71756924G>T | CA2670941969 | GC | c.832-10C>A (n.832-10C>A) n.716-10C>A c.889-10C>A (n.889-10C>A) | gnomAD v4 |
| 4 | g.71756926A>G | CA2670941970 | GC | c.832-12T>C (n.832-12T>C) n.716-12T>C c.889-12T>C (n.889-12T>C) | gnomAD v4 |
| 4 | g.71756927T>C | CA552290283 | GC | c.832-13A>G (n.832-13A>G) n.716-13A>G c.889-13A>G (n.889-13A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756927T>G | CA552290284 | GC | c.832-13A>C (n.832-13A>C) n.716-13A>C c.889-13A>C (n.889-13A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756927T= | CA1467373275 | GC | c.832-13A= (n.832-13A=) n.716-13A= c.889-13A= (n.889-13A=) | |
| 4 | g.71756928G>T | CA2670941971 | GC | c.832-14C>A (n.832-14C>A) n.716-14C>A c.889-14C>A (n.889-14C>A) | gnomAD v4 |
| 4 | g.71756929G>A | CA2955564 | GC | c.832-15C>T (n.832-15C>T) n.716-15C>T c.889-15C>T (n.889-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756929G= | CA1467373276 | GC | c.832-15C= (n.832-15C=) n.716-15C= c.889-15C= (n.889-15C=) | |
| 4 | g.71756929G>T | CA2955563 | GC | c.832-15C>A (n.832-15C>A) n.716-15C>A c.889-15C>A (n.889-15C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756930T>G | CA2955565 | GC | c.832-16A>C (n.832-16A>C) n.716-16A>C c.889-16A>C (n.889-16A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756930T= | CA1467373277 | GC | c.832-16A= (n.832-16A=) n.716-16A= c.889-16A= (n.889-16A=) | |
| 4 | g.71756931T>A | CA2670941972 | GC | c.832-17A>T (n.832-17A>T) n.716-17A>T c.889-17A>T (n.889-17A>T) | gnomAD v4 |
| 4 | g.71756932A>T | CA2670941973 | GC | c.832-18T>A (n.832-18T>A) n.716-18T>A c.889-18T>A (n.889-18T>A) | gnomAD v4 |
| 4 | g.71756933G>T | CA2670941974 | GC | c.832-19C>A (n.832-19C>A) n.716-19C>A c.889-19C>A (n.889-19C>A) | gnomAD v4 |
| 4 | g.71756934_71756941delinsTTTGTGCA | CA1467373278 | GC | c.832-27_832-20delinsTGCACAAA (n.832-27_832-20delinsTGCACAAA) n.716-27_716-20delinsTGCACAAA c.889-27_889-20delinsTGCACAAA (n.889-27_889-20delinsTGCACAAA) | |
| 4 | g.71756939_71756945del | CA2955566 | GC | c.832-27_832-21del (n.832-27_832-21del) n.716-27_716-21del c.889-27_889-21del (n.889-27_889-21del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756937G>T | CA2578109145 | GC | c.832-23C>A (n.832-23C>A) n.716-23C>A c.889-23C>A (n.889-23C>A) | gnomAD v4 |
| 4 | g.71756938T>C | CA552290285 | GC | c.832-24A>G (n.832-24A>G) n.716-24A>G c.889-24A>G (n.889-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756938T>G | CA1467373280 | GC | c.832-24A>C (n.832-24A>C) n.716-24A>C c.889-24A>C (n.889-24A>C) | dbSNP |
| 4 | g.71756938T= | CA1467373279 | GC | c.832-24A= (n.832-24A=) n.716-24A= c.889-24A= (n.889-24A=) | |
| 4 | g.71756939G>A | CA1467373281 | GC | c.832-25C>T (n.832-25C>T) n.716-25C>T c.889-25C>T (n.889-25C>T) | dbSNP |
| 4 | g.71756939G>C | CA2670941975 | GC | c.832-25C>G (n.832-25C>G) n.716-25C>G c.889-25C>G (n.889-25C>G) | gnomAD v4 |
| 4 | g.71756939G= | CA1467373282 | GC | c.832-25C= (n.832-25C=) n.716-25C= c.889-25C= (n.889-25C=) | |
| 4 | g.71756939G>T | CA2578109146 | GC | c.832-25C>A (n.832-25C>A) n.716-25C>A c.889-25C>A (n.889-25C>A) | gnomAD v4 |
| 4 | g.71756940C>T | CA2670941976 | GC | c.832-26G>A (n.832-26G>A) n.716-26G>A c.889-26G>A (n.889-26G>A) | gnomAD v4 |
| 4 | g.71756941A= | CA1467373283 | GC | c.832-27T= (n.832-27T=) n.716-27T= c.889-27T= (n.889-27T=) | |
| 4 | g.71756941A>G | CA1467373285 | GC | c.832-27T>C (n.832-27T>C) n.716-27T>C c.889-27T>C (n.889-27T>C) | dbSNP gnomAD v4 |
| 4 | g.71756941_71756943delinsATT | CA1467373284 | GC | c.832-29_832-27delinsAAT (n.832-29_832-27delinsAAT) n.716-29_716-27delinsAAT c.889-29_889-27delinsAAT (n.889-29_889-27delinsAAT) | |
| 4 | g.71756942T>C | CA2955567 | GC | c.832-28A>G (n.832-28A>G) n.716-28A>G c.889-28A>G (n.889-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756942T= | CA1467373287 | GC | c.832-28A= (n.832-28A=) n.716-28A= c.889-28A= (n.889-28A=) | |
| 4 | g.71756942_71756943del | CA1467373286 | GC | c.832-29_832-28del (n.832-29_832-28del) n.716-29_716-28del c.889-29_889-28del (n.889-29_889-28del) | dbSNP gnomAD v4 |
| 4 | g.71756943T>G | CA552290286 | GC | c.832-29A>C (n.832-29A>C) n.716-29A>C c.889-29A>C (n.889-29A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756943T= | CA1467373288 | GC | c.832-29A= (n.832-29A=) n.716-29A= c.889-29A= (n.889-29A=) | |
| 4 | g.71756944G>C | CA2955568 | GC | c.832-30C>G (n.832-30C>G) n.716-30C>G c.889-30C>G (n.889-30C>G) | dbSNP ExAC gnomAD v2 |
| 4 | g.71756944G= | CA1467373289 | GC | c.832-30C= (n.832-30C=) n.716-30C= c.889-30C= (n.889-30C=) | |
| 4 | g.71756944G>T | CA2578109147 | GC | c.832-30C>A (n.832-30C>A) n.716-30C>A c.889-30C>A (n.889-30C>A) | gnomAD v4 |
| 4 | g.71756945T>C | CA2955569 | GC | c.832-31A>G (n.832-31A>G) n.716-31A>G c.889-31A>G (n.889-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756945T= | CA1467373290 | GC | c.832-31A= (n.832-31A=) n.716-31A= c.889-31A= (n.889-31A=) | |
| 4 | g.71756946_71756947insGTCAAGAAAAAAC | CA2553768577 | GC | c.832-33_832-32insGTTTTTTCTTGAC (n.832-33_832-32insGTTTTTTCTTGAC) n.716-33_716-32insGTTTTTTCTTGAC c.889-33_889-32insGTTTTTTCTTGAC (n.889-33_889-32insGTTTTTTCTTGAC) | |
| 4 | g.71756947A>C | CA2670941977 | GC | c.832-33T>G (n.832-33T>G) n.716-33T>G c.889-33T>G (n.889-33T>G) | gnomAD v4 |
| 4 | g.71756948G>A | CA2955570 | GC | c.832-34C>T (n.832-34C>T) n.716-34C>T c.889-34C>T (n.889-34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756948G= | CA1467373291 | GC | c.832-34C= (n.832-34C=) n.716-34C= c.889-34C= (n.889-34C=) | |
| 4 | g.71756948G>T | CA2670941978 | GC | c.832-34C>A (n.832-34C>A) n.716-34C>A c.889-34C>A (n.889-34C>A) | gnomAD v4 |
| 4 | g.71756950T>G | CA2670941979 | GC | c.832-36A>C (n.832-36A>C) n.716-36A>C c.889-36A>C (n.889-36A>C) | gnomAD v4 |
| 4 | g.71756952C>A | CA1467373293 | GC | c.832-38G>T (n.832-38G>T) n.716-38G>T c.889-38G>T (n.889-38G>T) | dbSNP |
| 4 | g.71756952C= | CA1467373292 | GC | c.832-38G= (n.832-38G=) n.716-38G= c.889-38G= (n.889-38G=) | |
| 4 | g.71756952C>T | CA1467373294 | GC | c.832-38G>A (n.832-38G>A) n.716-38G>A c.889-38G>A (n.889-38G>A) | dbSNP gnomAD v4 |