| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42692891C>A | CA411809928 | A4GALT,CYB5R3 | c.-49+27906G>T (n.-49+27906G>T) c.1061G>T (p.Ter354Leu) | |
| 22 | g.42692891C>G | CA411809929 | A4GALT,CYB5R3 | c.-49+27906G>C (n.-49+27906G>C) c.1061G>C (p.Ter354Ser) | |
| 22 | g.42692891C>T | CA515062557 | A4GALT,CYB5R3 | c.-49+27906G>A (n.-49+27906G>A) c.1061G>A (p.Ter354=) | gnomAD v4 |
| 22 | g.42692892A= | CA2406870010 | A4GALT,CYB5R3 | c.-49+27905T= (n.-49+27905T=) c.1060T= (p.Ter354=) | |
| 22 | g.42692892A>C | CA411809930 | A4GALT,CYB5R3 | c.-49+27905T>G (n.-49+27905T>G) c.1060T>G (p.Ter354Gly) | |
| 22 | g.42692892A>G | CA411809931 | A4GALT,CYB5R3 | c.-49+27905T>C (n.-49+27905T>C) c.1060T>C (p.Ter354Arg) | |
| 22 | g.42692892A>T | CA411809932 | A4GALT,CYB5R3 | c.-49+27905T>A (n.-49+27905T>A) c.1060T>A (p.Ter354Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692893C>A | CA411809933 | A4GALT,CYB5R3 | c.-49+27904G>T (n.-49+27904G>T) c.1059G>T (p.Leu353Phe) | |
| 22 | g.42692893C= | CA2406870011 | A4GALT,CYB5R3 | c.-49+27904G= (n.-49+27904G=) c.1059G= (p.Leu353=) | |
| 22 | g.42692893C>G | CA411809934 | A4GALT,CYB5R3 | c.-49+27904G>C (n.-49+27904G>C) c.1059G>C (p.Leu353Phe) | gnomAD v4 |
| 22 | g.42692893C>T | CA10270145 | A4GALT,CYB5R3 | c.-49+27904G>A (n.-49+27904G>A) c.1059G>A (p.Leu353=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692894A>C | CA411809935 | A4GALT,CYB5R3 | c.-49+27903T>G (n.-49+27903T>G) c.1058T>G (p.Leu353Trp) | |
| 22 | g.42692894A>G | CA411809936 | A4GALT,CYB5R3 | c.-49+27903T>C (n.-49+27903T>C) c.1058T>C (p.Leu353Ser) | |
| 22 | g.42692894A>T | CA411809937 | A4GALT,CYB5R3 | c.-49+27903T>A (n.-49+27903T>A) c.1058T>A (p.Leu353Ter) | |
| 22 | g.42692895A>C | CA411809939 | A4GALT,CYB5R3 | c.-49+27902T>G (n.-49+27902T>G) c.1057T>G (p.Leu353Val) | |
| 22 | g.42692895A>G | CA515062567 | A4GALT,CYB5R3 | c.-49+27902T>C (n.-49+27902T>C) c.1057T>C (p.Leu353=) | |
| 22 | g.42692895A>T | CA411809938 | A4GALT,CYB5R3 | c.-49+27902T>A (n.-49+27902T>A) c.1057T>A (p.Leu353Met) | |
| 22 | g.42692896G>A | CA10270146 | A4GALT,CYB5R3 | c.-49+27901C>T (n.-49+27901C>T) c.1056C>T (p.Tyr352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692896G>C | CA411809940 | A4GALT,CYB5R3 | c.-49+27901C>G (n.-49+27901C>G) c.1056C>G (p.Tyr352Ter) | |
| 22 | g.42692896G= | CA2406870012 | A4GALT,CYB5R3 | c.-49+27901C= (n.-49+27901C=) c.1056C= (p.Tyr352=) | |
| 22 | g.42692896G>T | CA411809941 | A4GALT,CYB5R3 | c.-49+27901C>A (n.-49+27901C>A) c.1056C>A (p.Tyr352Ter) | |
| 22 | g.42692897T>A | CA411809942 | A4GALT,CYB5R3 | c.-49+27900A>T (n.-49+27900A>T) c.1055A>T (p.Tyr352Phe) | |
| 22 | g.42692897T>C | CA10270147 | A4GALT,CYB5R3 | c.-49+27900A>G (n.-49+27900A>G) c.1055A>G (p.Tyr352Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692897T>G | CA411809943 | A4GALT,CYB5R3 | c.-49+27900A>C (n.-49+27900A>C) c.1055A>C (p.Tyr352Ser) | |
| 22 | g.42692897T= | CA2406870013 | A4GALT,CYB5R3 | c.-49+27900A= (n.-49+27900A=) c.1055A= (p.Tyr352=) | |
| 22 | g.42692898A>C | CA411809944 | A4GALT,CYB5R3 | c.-49+27899T>G (n.-49+27899T>G) c.1054T>G (p.Tyr352Asp) | |
| 22 | g.42692898A>G | CA411809945 | A4GALT,CYB5R3 | c.-49+27899T>C (n.-49+27899T>C) c.1054T>C (p.Tyr352His) | gnomAD v4 |
| 22 | g.42692898A>T | CA411809946 | A4GALT,CYB5R3 | c.-49+27899T>A (n.-49+27899T>A) c.1054T>A (p.Tyr352Asn) | |
| 22 | g.42692899_42692900del | CA2577739304 | A4GALT,CYB5R3 | c.-49+27898_-49+27899del (n.-49+27898_-49+27899del) c.1053_1054del (p.Met351IlefsTer?) | |
| 22 | g.42692899C>A | CA411809947 | A4GALT,CYB5R3 | c.-49+27898G>T (n.-49+27898G>T) c.1053G>T (p.Met351Ile) | |
| 22 | g.42692899C>G | CA411809948 | A4GALT,CYB5R3 | c.-49+27898G>C (n.-49+27898G>C) c.1053G>C (p.Met351Ile) | |
| 22 | g.42692899C>T | CA411809949 | A4GALT,CYB5R3 | c.-49+27898G>A (n.-49+27898G>A) c.1053G>A (p.Met351Ile) | gnomAD v4 |
| 22 | g.42692900A= | CA2406870014 | A4GALT,CYB5R3 | c.-49+27897T= (n.-49+27897T=) c.1052T= (p.Met351=) | |
| 22 | g.42692900A>C | CA10270148 | A4GALT,CYB5R3 | c.-49+27897T>G (n.-49+27897T>G) c.1052T>G (p.Met351Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692900A>G | CA411809951 | A4GALT,CYB5R3 | c.-49+27897T>C (n.-49+27897T>C) c.1052T>C (p.Met351Thr) | |
| 22 | g.42692900A>T | CA411809950 | A4GALT,CYB5R3 | c.-49+27897T>A (n.-49+27897T>A) c.1052T>A (p.Met351Lys) | |
| 22 | g.42692901T>A | CA411809952 | A4GALT,CYB5R3 | c.-49+27896A>T (n.-49+27896A>T) c.1051A>T (p.Met351Leu) | |
| 22 | g.42692901T>C | CA411809953 | A4GALT,CYB5R3 | c.-49+27896A>G (n.-49+27896A>G) c.1051A>G (p.Met351Val) | |
| 22 | g.42692901T>G | CA411809954 | A4GALT,CYB5R3 | c.-49+27896A>C (n.-49+27896A>C) c.1051A>C (p.Met351Leu) | |
| 22 | g.42692904del | CA2657079000 | A4GALT,CYB5R3 | c.-49+27896del (n.-49+27896del) c.1051del (p.Met351CysfsTer?) | gnomAD v4 |
| 22 | g.42692902T>A | CA411809955 | A4GALT,CYB5R3 | c.-49+27895A>T (n.-49+27895A>T) c.1050A>T (p.Lys350Asn) | |
| 22 | g.42692902T>C | CA515062594 | A4GALT,CYB5R3 | c.-49+27895A>G (n.-49+27895A>G) c.1050A>G (p.Lys350=) | dbSNP |
| 22 | g.42692902T>G | CA411809956 | A4GALT,CYB5R3 | c.-49+27895A>C (n.-49+27895A>C) c.1050A>C (p.Lys350Asn) | |
| 22 | g.42692903T>A | CA411809958 | A4GALT,CYB5R3 | c.-49+27894A>T (n.-49+27894A>T) c.1049A>T (p.Lys350Ile) | |
| 22 | g.42692903T>C | CA411809957 | A4GALT,CYB5R3 | c.-49+27894A>G (n.-49+27894A>G) c.1049A>G (p.Lys350Arg) | |
| 22 | g.42692903T>G | CA324732048 | A4GALT,CYB5R3 | c.-49+27894A>C (n.-49+27894A>C) c.1049A>C (p.Lys350Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692903T= | CA2406870015 | A4GALT,CYB5R3 | c.-49+27894A= (n.-49+27894A=) c.1049A= (p.Lys350=) | |
| 22 | g.42692904T>A | CA411809959 | A4GALT,CYB5R3 | c.-49+27893A>T (n.-49+27893A>T) c.1048A>T (p.Lys350Ter) | |
| 22 | g.42692904T>C | CA411809960 | A4GALT,CYB5R3 | c.-49+27893A>G (n.-49+27893A>G) c.1048A>G (p.Lys350Glu) | |
| 22 | g.42692904T>G | CA411809961 | A4GALT,CYB5R3 | c.-49+27893A>C (n.-49+27893A>C) c.1048A>C (p.Lys350Gln) | |
| 22 | g.42692905C>A | CA411809962 | A4GALT,CYB5R3 | c.-49+27892G>T (n.-49+27892G>T) c.1047G>T (p.Met349Ile) | |
| 22 | g.42692905C>G | CA411809963 | A4GALT,CYB5R3 | c.-49+27892G>C (n.-49+27892G>C) c.1047G>C (p.Met349Ile) | |
| 22 | g.42692905C>T | CA411809964 | A4GALT,CYB5R3 | c.-49+27892G>A (n.-49+27892G>A) c.1047G>A (p.Met349Ile) | gnomAD v4 |
| 22 | g.42692906A= | CA2406870016 | A4GALT,CYB5R3 | c.-49+27891T= (n.-49+27891T=) c.1046T= (p.Met349=) | |
| 22 | g.42692906A>C | CA411809967 | A4GALT,CYB5R3 | c.-49+27891T>G (n.-49+27891T>G) c.1046T>G (p.Met349Arg) | |
| 22 | g.42692906A>G | CA411809966 | A4GALT,CYB5R3 | c.-49+27891T>C (n.-49+27891T>C) c.1046T>C (p.Met349Thr) | dbSNP gnomAD v4 |
| 22 | g.42692906A>T | CA411809965 | A4GALT,CYB5R3 | c.-49+27891T>A (n.-49+27891T>A) c.1046T>A (p.Met349Lys) | |
| 22 | g.42692907T>A | CA411809969 | A4GALT,CYB5R3 | c.-49+27890A>T (n.-49+27890A>T) c.1045A>T (p.Met349Leu) | |
| 22 | g.42692907T>C | CA411809968 | A4GALT,CYB5R3 | c.-49+27890A>G (n.-49+27890A>G) c.1045A>G (p.Met349Val) | gnomAD v4 |
| 22 | g.42692907T>G | CA411809970 | A4GALT,CYB5R3 | c.-49+27890A>C (n.-49+27890A>C) c.1045A>C (p.Met349Leu) | |
| 22 | g.42692908G>A | CA515062613 | A4GALT,CYB5R3 | c.-49+27889C>T (n.-49+27889C>T) c.1044C>T (p.Ala348=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692908G>C | CA515062615 | A4GALT,CYB5R3 | c.-49+27889C>G (n.-49+27889C>G) c.1044C>G (p.Ala348=) | |
| 22 | g.42692908G= | CA2406870017 | A4GALT,CYB5R3 | c.-49+27889C= (n.-49+27889C=) c.1044C= (p.Ala348=) | |
| 22 | g.42692908G>T | CA515062616 | A4GALT,CYB5R3 | c.-49+27889C>A (n.-49+27889C>A) c.1044C>A (p.Ala348=) | gnomAD v4 |
| 22 | g.42692909G>A | CA411809971 | A4GALT,CYB5R3 | c.-49+27888C>T (n.-49+27888C>T) c.1043C>T (p.Ala348Val) | gnomAD v4 |
| 22 | g.42692909G>C | CA411809972 | A4GALT,CYB5R3 | c.-49+27888C>G (n.-49+27888C>G) c.1043C>G (p.Ala348Gly) | |
| 22 | g.42692909G>T | CA411809973 | A4GALT,CYB5R3 | c.-49+27888C>A (n.-49+27888C>A) c.1043C>A (p.Ala348Asp) | gnomAD v4 |
| 22 | g.42692910C>A | CA411809974 | A4GALT,CYB5R3 | c.-49+27887G>T (n.-49+27887G>T) c.1042G>T (p.Ala348Ser) | |
| 22 | g.42692910C>G | CA411809975 | A4GALT,CYB5R3 | c.-49+27887G>C (n.-49+27887G>C) c.1042G>C (p.Ala348Pro) | |
| 22 | g.42692910C>T | CA411809976 | A4GALT,CYB5R3 | c.-49+27887G>A (n.-49+27887G>A) c.1042G>A (p.Ala348Thr) | |
| 22 | g.42692911C>A | CA411809977 | A4GALT,CYB5R3 | c.-49+27886G>T (n.-49+27886G>T) c.1041G>T (p.Glu347Asp) | |
| 22 | g.42692911C= | CA2406870018 | A4GALT,CYB5R3 | c.-49+27886G= (n.-49+27886G=) c.1041G= (p.Glu347=) | |
| 22 | g.42692911C>G | CA411809978 | A4GALT,CYB5R3 | c.-49+27886G>C (n.-49+27886G>C) c.1041G>C (p.Glu347Asp) | |
| 22 | g.42692911C>T | CA10270149 | A4GALT,CYB5R3 | c.-49+27886G>A (n.-49+27886G>A) c.1041G>A (p.Glu347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692912T>A | CA411809979 | A4GALT,CYB5R3 | c.-49+27885A>T (n.-49+27885A>T) c.1040A>T (p.Glu347Val) | |
| 22 | g.42692912T>C | CA411809980 | A4GALT,CYB5R3 | c.-49+27885A>G (n.-49+27885A>G) c.1040A>G (p.Glu347Gly) | |
| 22 | g.42692912T>G | CA411809981 | A4GALT,CYB5R3 | c.-49+27885A>C (n.-49+27885A>C) c.1040A>C (p.Glu347Ala) | |
| 22 | g.42692917_42692923del | CA2657079016 | A4GALT,CYB5R3 | c.-49+27879_-49+27885del (n.-49+27879_-49+27885del) c.1034_1040del (p.Thr345ArgfsTer3) | gnomAD v4 |
| 22 | g.42692913C>A | CA411809983 | A4GALT,CYB5R3 | c.-49+27884G>T (n.-49+27884G>T) c.1039G>T (p.Glu347Ter) | gnomAD v4 |
| 22 | g.42692913C= | CA2406870019 | A4GALT,CYB5R3 | c.-49+27884G= (n.-49+27884G=) c.1039G= (p.Glu347=) | |
| 22 | g.42692913C>G | CA411809982 | A4GALT,CYB5R3 | c.-49+27884G>C (n.-49+27884G>C) c.1039G>C (p.Glu347Gln) | gnomAD v4 |
| 22 | g.42692913C>T | CA10270150 | A4GALT,CYB5R3 | c.-49+27884G>A (n.-49+27884G>A) c.1039G>A (p.Glu347Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692914G>A | CA10270151 | A4GALT,CYB5R3 | c.-49+27883C>T (n.-49+27883C>T) c.1038C>T (p.His346=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692914G>C | CA411809984 | A4GALT,CYB5R3 | c.-49+27883C>G (n.-49+27883C>G) c.1038C>G (p.His346Gln) | |
| 22 | g.42692914G= | CA2406870020 | A4GALT,CYB5R3 | c.-49+27883C= (n.-49+27883C=) c.1038C= (p.His346=) | |
| 22 | g.42692914G>T | CA411809985 | A4GALT,CYB5R3 | c.-49+27883C>A (n.-49+27883C>A) c.1038C>A (p.His346Gln) | gnomAD v4 |
| 22 | g.42692915T>A | CA10270152 | A4GALT,CYB5R3 | c.-49+27882A>T (n.-49+27882A>T) c.1037A>T (p.His346Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692915T>C | CA411809986 | A4GALT,CYB5R3 | c.-49+27882A>G (n.-49+27882A>G) c.1037A>G (p.His346Arg) | |
| 22 | g.42692915T>G | CA411809987 | A4GALT,CYB5R3 | c.-49+27882A>C (n.-49+27882A>C) c.1037A>C (p.His346Pro) | |
| 22 | g.42692915T= | CA2406870021 | A4GALT,CYB5R3 | c.-49+27882A= (n.-49+27882A=) c.1037A= (p.His346=) | |
| 22 | g.42692916G>A | CA411809988 | A4GALT,CYB5R3 | c.-49+27881C>T (n.-49+27881C>T) c.1036C>T (p.His346Tyr) | |
| 22 | g.42692916G>C | CA411809989 | A4GALT,CYB5R3 | c.-49+27881C>G (n.-49+27881C>G) c.1036C>G (p.His346Asp) | |
| 22 | g.42692916G>T | CA411809990 | A4GALT,CYB5R3 | c.-49+27881C>A (n.-49+27881C>A) c.1036C>A (p.His346Asn) | gnomAD v4 |
| 22 | g.42692917C>A | CA515062643 | A4GALT,CYB5R3 | c.-49+27880G>T (n.-49+27880G>T) c.1035G>T (p.Thr345=) | dbSNP gnomAD v4 |
| 22 | g.42692917C= | CA2406870022 | A4GALT,CYB5R3 | c.-49+27880G= (n.-49+27880G=) c.1035G= (p.Thr345=) | |
| 22 | g.42692917C>G | CA10270153 | A4GALT,CYB5R3 | c.-49+27880G>C (n.-49+27880G>C) c.1035G>C (p.Thr345=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 22 | g.42692917C>T | CA324732056 | A4GALT,CYB5R3 | c.-49+27880G>A (n.-49+27880G>A) c.1035G>A (p.Thr345=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692918G>A | CA10270154 | A4GALT,CYB5R3 | c.-49+27879C>T (n.-49+27879C>T) c.1034C>T (p.Thr345Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42692918G>C | CA411809992 | A4GALT,CYB5R3 | c.-49+27879C>G (n.-49+27879C>G) c.1034C>G (p.Thr345Arg) | gnomAD v4 |
| 22 | g.42692918G= | CA2406870023 | A4GALT,CYB5R3 | c.-49+27879C= (n.-49+27879C=) c.1034C= (p.Thr345=) | |
| 22 | g.42692918G>T | CA411809991 | A4GALT,CYB5R3 | c.-49+27879C>A (n.-49+27879C>A) c.1034C>A (p.Thr345Lys) | |
| 22 | g.42692919T>A | CA411809993 | A4GALT,CYB5R3 | c.-49+27878A>T (n.-49+27878A>T) c.1033A>T (p.Thr345Ser) | |
| 22 | g.42692919T>C | CA411809994 | A4GALT,CYB5R3 | c.-49+27878A>G (n.-49+27878A>G) c.1033A>G (p.Thr345Ala) | |
| 22 | g.42692919T>G | CA411809995 | A4GALT,CYB5R3 | c.-49+27878A>C (n.-49+27878A>C) c.1033A>C (p.Thr345Pro) | |
| 22 | g.42692920C>A | CA515062652 | A4GALT,CYB5R3 | c.-49+27877G>T (n.-49+27877G>T) c.1032G>T (p.Thr344=) | gnomAD v4 |
| 22 | g.42692920C= | CA2406870024 | A4GALT,CYB5R3 | c.-49+27877G= (n.-49+27877G=) c.1032G= (p.Thr344=) | |
| 22 | g.42692920C>G | CA515062655 | A4GALT,CYB5R3 | c.-49+27877G>C (n.-49+27877G>C) c.1032G>C (p.Thr344=) | |
| 22 | g.42692920C>T | CA10270155 | A4GALT,CYB5R3 | c.-49+27877G>A (n.-49+27877G>A) c.1032G>A (p.Thr344=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42692921G>A | CA10270156 | A4GALT,CYB5R3 | c.-49+27876C>T (n.-49+27876C>T) c.1031C>T (p.Thr344Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692921G>C | CA411809996 | A4GALT,CYB5R3 | c.-49+27876C>G (n.-49+27876C>G) c.1031C>G (p.Thr344Arg) | |
| 22 | g.42692921G= | CA2406870025 | A4GALT,CYB5R3 | c.-49+27876C= (n.-49+27876C=) c.1031C= (p.Thr344=) | |
| 22 | g.42692921G>T | CA411809997 | A4GALT,CYB5R3 | c.-49+27876C>A (n.-49+27876C>A) c.1031C>A (p.Thr344Lys) | gnomAD v4 |
| 22 | g.42692922T>A | CA411809998 | A4GALT,CYB5R3 | c.-49+27875A>T (n.-49+27875A>T) c.1030A>T (p.Thr344Ser) | |
| 22 | g.42692922T>C | CA411810000 | A4GALT,CYB5R3 | c.-49+27875A>G (n.-49+27875A>G) c.1030A>G (p.Thr344Ala) | dbSNP |
| 22 | g.42692922T>G | CA411809999 | A4GALT,CYB5R3 | c.-49+27875A>C (n.-49+27875A>C) c.1030A>C (p.Thr344Pro) | |
| 22 | g.42692922T= | CA2406870026 | A4GALT,CYB5R3 | c.-49+27875A= (n.-49+27875A=) c.1030A= (p.Thr344=) | |
| 22 | g.42692926_42692948dup | CA2657079055 | A4GALT,CYB5R3 | c.-49+27853_-49+27875dup (n.-49+27853_-49+27875dup) c.1008_1030dup (p.Thr344SerfsTer14) | gnomAD v4 |
| 22 | g.42692923G>A | CA515070459 | A4GALT,CYB5R3 | c.-49+27874C>T (n.-49+27874C>T) c.1029C>T (p.Pro343=) | |
| 22 | g.42692923G>C | CA515070460 | A4GALT,CYB5R3 | c.-49+27874C>G (n.-49+27874C>G) c.1029C>G (p.Pro343=) | |
| 22 | g.42692923G>T | CA515070461 | A4GALT,CYB5R3 | c.-49+27874C>A (n.-49+27874C>A) c.1029C>A (p.Pro343=) | gnomAD v4 |
| 22 | g.42692926dup | CA115693 | A4GALT,CYB5R3 | c.-49+27874dup (n.-49+27874dup) c.1029dup (p.Thr344HisfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692924G>A | CA411810001 | A4GALT,CYB5R3 | c.-49+27873C>T (n.-49+27873C>T) c.1028C>T (p.Pro343Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692924G>C | CA411810002 | A4GALT,CYB5R3 | c.-49+27873C>G (n.-49+27873C>G) c.1028C>G (p.Pro343Arg) | |
| 22 | g.42692924G= | CA2406870027 | A4GALT,CYB5R3 | c.-49+27873C= (n.-49+27873C=) c.1028C= (p.Pro343=) | |
| 22 | g.42692924G>T | CA411810003 | A4GALT,CYB5R3 | c.-49+27873C>A (n.-49+27873C>A) c.1028C>A (p.Pro343His) | |
| 22 | g.42692925G>A | CA411810004 | A4GALT,CYB5R3 | c.-49+27872C>T (n.-49+27872C>T) c.1027C>T (p.Pro343Ser) | |
| 22 | g.42692925G>C | CA411810006 | A4GALT,CYB5R3 | c.-49+27872C>G (n.-49+27872C>G) c.1027C>G (p.Pro343Ala) | |
| 22 | g.42692925G>T | CA411810005 | A4GALT,CYB5R3 | c.-49+27872C>A (n.-49+27872C>A) c.1027C>A (p.Pro343Thr) | gnomAD v4 |
| 22 | g.42692926G>A | CA515070462 | A4GALT,CYB5R3 | c.-49+27871C>T (n.-49+27871C>T) c.1026C>T (p.Cys342=) | |
| 22 | g.42692926G>C | CA411810007 | A4GALT,CYB5R3 | c.-49+27871C>G (n.-49+27871C>G) c.1026C>G (p.Cys342Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692926G= | CA2406870028 | A4GALT,CYB5R3 | c.-49+27871C= (n.-49+27871C=) c.1026C= (p.Cys342=) | |
| 22 | g.42692926G>T | CA411810008 | A4GALT,CYB5R3 | c.-49+27871C>A (n.-49+27871C>A) c.1026C>A (p.Cys342Ter) | gnomAD v4 |
| 22 | g.42692927C>A | CA411810009 | A4GALT,CYB5R3 | c.-49+27870G>T (n.-49+27870G>T) c.1025G>T (p.Cys342Phe) | |
| 22 | g.42692927C>G | CA411810010 | A4GALT,CYB5R3 | c.-49+27870G>C (n.-49+27870G>C) c.1025G>C (p.Cys342Ser) | |
| 22 | g.42692927C>T | CA411810011 | A4GALT,CYB5R3 | c.-49+27870G>A (n.-49+27870G>A) c.1025G>A (p.Cys342Tyr) | gnomAD v4 |
| 22 | g.42692928A>C | CA411810012 | A4GALT,CYB5R3 | c.-49+27869T>G (n.-49+27869T>G) c.1024T>G (p.Cys342Gly) | |
| 22 | g.42692928A>G | CA411810013 | A4GALT,CYB5R3 | c.-49+27869T>C (n.-49+27869T>C) c.1024T>C (p.Cys342Arg) | |
| 22 | g.42692928A>T | CA411810014 | A4GALT,CYB5R3 | c.-49+27869T>A (n.-49+27869T>A) c.1024T>A (p.Cys342Ser) | |
| 22 | g.42692929G>A | CA515070463 | A4GALT,CYB5R3 | c.-49+27868C>T (n.-49+27868C>T) c.1023C>T (p.Tyr341=) | gnomAD v4 |
| 22 | g.42692929G>C | CA411810015 | A4GALT,CYB5R3 | c.-49+27868C>G (n.-49+27868C>G) c.1023C>G (p.Tyr341Ter) | |
| 22 | g.42692929G>T | CA411810016 | A4GALT,CYB5R3 | c.-49+27868C>A (n.-49+27868C>A) c.1023C>A (p.Tyr341Ter) | gnomAD v4 |
| 22 | g.42692930T>A | CA411810017 | A4GALT,CYB5R3 | c.-49+27867A>T (n.-49+27867A>T) c.1022A>T (p.Tyr341Phe) | |
| 22 | g.42692930T>C | CA10270157 | A4GALT,CYB5R3 | c.-49+27867A>G (n.-49+27867A>G) c.1022A>G (p.Tyr341Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692930T>G | CA411810018 | A4GALT,CYB5R3 | c.-49+27867A>C (n.-49+27867A>C) c.1022A>C (p.Tyr341Ser) | |
| 22 | g.42692930T= | CA2406870029 | A4GALT,CYB5R3 | c.-49+27867A= (n.-49+27867A=) c.1022A= (p.Tyr341=) | |
| 22 | g.42692931A= | CA2406870030 | A4GALT,CYB5R3 | c.-49+27866T= (n.-49+27866T=) c.1021T= (p.Tyr341=) | |
| 22 | g.42692931A>C | CA411810020 | A4GALT,CYB5R3 | c.-49+27866T>G (n.-49+27866T>G) c.1021T>G (p.Tyr341Asp) | |
| 22 | g.42692931A>G | CA10270158 | A4GALT,CYB5R3 | c.-49+27866T>C (n.-49+27866T>C) c.1021T>C (p.Tyr341His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692931A>T | CA411810019 | A4GALT,CYB5R3 | c.-49+27866T>A (n.-49+27866T>A) c.1021T>A (p.Tyr341Asn) | |
| 22 | g.42692932G>A | CA515070466 | A4GALT,CYB5R3 | c.-49+27865C>T (n.-49+27865C>T) c.1020C>T (p.Arg340=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692932G>C | CA515070465 | A4GALT,CYB5R3 | c.-49+27865C>G (n.-49+27865C>G) c.1020C>G (p.Arg340=) | |
| 22 | g.42692932G= | CA2406870031 | A4GALT,CYB5R3 | c.-49+27865C= (n.-49+27865C=) c.1020C= (p.Arg340=) | |
| 22 | g.42692932G>T | CA515070464 | A4GALT,CYB5R3 | c.-49+27865C>A (n.-49+27865C>A) c.1020C>A (p.Arg340=) | gnomAD v4 |
| 22 | g.42692933C>A | CA411810021 | A4GALT,CYB5R3 | c.-49+27864G>T (n.-49+27864G>T) c.1019G>T (p.Arg340Leu) | |
| 22 | g.42692933C= | CA2406870032 | A4GALT,CYB5R3 | c.-49+27864G= (n.-49+27864G=) c.1019G= (p.Arg340=) | |
| 22 | g.42692933C>G | CA411810022 | A4GALT,CYB5R3 | c.-49+27864G>C (n.-49+27864G>C) c.1019G>C (p.Arg340Pro) | |
| 22 | g.42692933C>T | CA10270159 | A4GALT,CYB5R3 | c.-49+27864G>A (n.-49+27864G>A) c.1019G>A (p.Arg340His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692934G>A | CA10270160 | A4GALT,CYB5R3 | c.-49+27863C>T (n.-49+27863C>T) c.1018C>T (p.Arg340Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692934G>C | CA411810024 | A4GALT,CYB5R3 | c.-49+27863C>G (n.-49+27863C>G) c.1018C>G (p.Arg340Gly) | gnomAD v4 |
| 22 | g.42692934G= | CA2406870033 | A4GALT,CYB5R3 | c.-49+27863C= (n.-49+27863C=) c.1018C= (p.Arg340=) | |
| 22 | g.42692934G>T | CA411810023 | A4GALT,CYB5R3 | c.-49+27863C>A (n.-49+27863C>A) c.1018C>A (p.Arg340Ser) | gnomAD v4 |
| 22 | g.42692935G>A | CA515070467 | A4GALT,CYB5R3 | c.-49+27862C>T (n.-49+27862C>T) c.1017C>T (p.Ala339=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692935G>C | CA515070468 | A4GALT,CYB5R3 | c.-49+27862C>G (n.-49+27862C>G) c.1017C>G (p.Ala339=) | |
| 22 | g.42692935G= | CA2406870034 | A4GALT,CYB5R3 | c.-49+27862C= (n.-49+27862C=) c.1017C= (p.Ala339=) | |
| 22 | g.42692935G>T | CA515070469 | A4GALT,CYB5R3 | c.-49+27862C>A (n.-49+27862C>A) c.1017C>A (p.Ala339=) | |
| 22 | g.42692936G>A | CA411810025 | A4GALT,CYB5R3 | c.-49+27861C>T (n.-49+27861C>T) c.1016C>T (p.Ala339Val) | gnomAD v4 COSMIC |
| 22 | g.42692936G>C | CA411810026 | A4GALT,CYB5R3 | c.-49+27861C>G (n.-49+27861C>G) c.1016C>G (p.Ala339Gly) | |
| 22 | g.42692936G>T | CA411810027 | A4GALT,CYB5R3 | c.-49+27861C>A (n.-49+27861C>A) c.1016C>A (p.Ala339Asp) | gnomAD v4 |
| 22 | g.42692937C>A | CA411810028 | A4GALT,CYB5R3 | c.-49+27860G>T (n.-49+27860G>T) c.1015G>T (p.Ala339Ser) | gnomAD v4 COSMIC |
| 22 | g.42692937C= | CA2406870035 | A4GALT,CYB5R3 | c.-49+27860G= (n.-49+27860G=) c.1015G= (p.Ala339=) | |
| 22 | g.42692937C>G | CA411810029 | A4GALT,CYB5R3 | c.-49+27860G>C (n.-49+27860G>C) c.1015G>C (p.Ala339Pro) | |
| 22 | g.42692937C>T | CA411810030 | A4GALT,CYB5R3 | c.-49+27860G>A (n.-49+27860G>A) c.1015G>A (p.Ala339Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692938A>C | CA411810031 | A4GALT,CYB5R3 | c.-49+27859T>G (n.-49+27859T>G) c.1014T>G (p.His338Gln) | |
| 22 | g.42692938A>G | CA515070470 | A4GALT,CYB5R3 | c.-49+27859T>C (n.-49+27859T>C) c.1014T>C (p.His338=) | |
| 22 | g.42692938A>T | CA411810032 | A4GALT,CYB5R3 | c.-49+27859T>A (n.-49+27859T>A) c.1014T>A (p.His338Gln) | |
| 22 | g.42692939T>A | CA411810033 | A4GALT,CYB5R3 | c.-49+27858A>T (n.-49+27858A>T) c.1013A>T (p.His338Leu) | |
| 22 | g.42692939T>C | CA411810034 | A4GALT,CYB5R3 | c.-49+27858A>G (n.-49+27858A>G) c.1013A>G (p.His338Arg) | dbSNP |
| 22 | g.42692939T>G | CA411810035 | A4GALT,CYB5R3 | c.-49+27858A>C (n.-49+27858A>C) c.1013A>C (p.His338Pro) | gnomAD v4 |
| 22 | g.42692939T= | CA2406870036 | A4GALT,CYB5R3 | c.-49+27858A= (n.-49+27858A=) c.1013A= (p.His338=) | |
| 22 | g.42692940G>A | CA10270161 | A4GALT,CYB5R3 | c.-49+27857C>T (n.-49+27857C>T) c.1012C>T (p.His338Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692940G>C | CA411810036 | A4GALT,CYB5R3 | c.-49+27857C>G (n.-49+27857C>G) c.1012C>G (p.His338Asp) | |
| 22 | g.42692940G= | CA2406870037 | A4GALT,CYB5R3 | c.-49+27857C= (n.-49+27857C=) c.1012C= (p.His338=) | |
| 22 | g.42692940G>T | CA411810037 | A4GALT,CYB5R3 | c.-49+27857C>A (n.-49+27857C>A) c.1012C>A (p.His338Asn) | gnomAD v4 |
| 22 | g.42692941C>A | CA10270162 | A4GALT,CYB5R3 | c.-49+27856G>T (n.-49+27856G>T) c.1011G>T (p.Leu337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692941C= | CA2406870038 | A4GALT,CYB5R3 | c.-49+27856G= (n.-49+27856G=) c.1011G= (p.Leu337=) | |
| 22 | g.42692941C>G | CA515070471 | A4GALT,CYB5R3 | c.-49+27856G>C (n.-49+27856G>C) c.1011G>C (p.Leu337=) | dbSNP |
| 22 | g.42692941C>T | CA515070472 | A4GALT,CYB5R3 | c.-49+27856G>A (n.-49+27856G>A) c.1011G>A (p.Leu337=) | gnomAD v4 |
| 22 | g.42692942A>C | CA411810038 | A4GALT,CYB5R3 | c.-49+27855T>G (n.-49+27855T>G) c.1010T>G (p.Leu337Arg) | |
| 22 | g.42692942A>G | CA411810039 | A4GALT,CYB5R3 | c.-49+27855T>C (n.-49+27855T>C) c.1010T>C (p.Leu337Pro) | |
| 22 | g.42692942A>T | CA411810040 | A4GALT,CYB5R3 | c.-49+27855T>A (n.-49+27855T>A) c.1010T>A (p.Leu337Gln) | |
| 22 | g.42692943G>A | CA515070473 | A4GALT,CYB5R3 | c.-49+27854C>T (n.-49+27854C>T) c.1009C>T (p.Leu337=) | |
| 22 | g.42692943G>C | CA411810041 | A4GALT,CYB5R3 | c.-49+27854C>G (n.-49+27854C>G) c.1009C>G (p.Leu337Val) | |
| 22 | g.42692943G>T | CA411810042 | A4GALT,CYB5R3 | c.-49+27854C>A (n.-49+27854C>A) c.1009C>A (p.Leu337Met) | gnomAD v4 |
| 22 | g.42692944C>A | CA411810043 | A4GALT,CYB5R3 | c.-49+27853G>T (n.-49+27853G>T) c.1008G>T (p.Gln336His) | |
| 22 | g.42692944C= | CA2406870039 | A4GALT,CYB5R3 | c.-49+27853G= (n.-49+27853G=) c.1008G= (p.Gln336=) | |
| 22 | g.42692944C>G | CA411810044 | A4GALT,CYB5R3 | c.-49+27853G>C (n.-49+27853G>C) c.1008G>C (p.Gln336His) | |
| 22 | g.42692944C>T | CA515070474 | A4GALT,CYB5R3 | c.-49+27853G>A (n.-49+27853G>A) c.1008G>A (p.Gln336=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692945T>A | CA411810045 | A4GALT,CYB5R3 | c.-49+27852A>T (n.-49+27852A>T) c.1007A>T (p.Gln336Leu) | |
| 22 | g.42692945T>C | CA411810046 | A4GALT,CYB5R3 | c.-49+27852A>G (n.-49+27852A>G) c.1007A>G (p.Gln336Arg) | |
| 22 | g.42692945T>G | CA411810047 | A4GALT,CYB5R3 | c.-49+27852A>C (n.-49+27852A>C) c.1007A>C (p.Gln336Pro) | |
| 22 | g.42692946G>A | CA411810049 | A4GALT,CYB5R3 | c.-49+27851C>T (n.-49+27851C>T) c.1006C>T (p.Gln336Ter) | |
| 22 | g.42692946G>C | CA411810050 | A4GALT,CYB5R3 | c.-49+27851C>G (n.-49+27851C>G) c.1006C>G (p.Gln336Glu) | |
| 22 | g.42692946G>T | CA411810048 | A4GALT,CYB5R3 | c.-49+27851C>A (n.-49+27851C>A) c.1006C>A (p.Gln336Lys) | |
| 22 | g.42692948del | CA2657079098 | A4GALT,CYB5R3 | c.-49+27851del (n.-49+27851del) c.1006del (p.Gln336SerfsTer14) | gnomAD v4 |
| 22 | g.42692947G>A | CA515070477 | A4GALT,CYB5R3 | c.-49+27850C>T (n.-49+27850C>T) c.1005C>T (p.Ala335=) | |
| 22 | g.42692947G>C | CA515070476 | A4GALT,CYB5R3 | c.-49+27850C>G (n.-49+27850C>G) c.1005C>G (p.Ala335=) | |
| 22 | g.42692947G>T | CA515070475 | A4GALT,CYB5R3 | c.-49+27850C>A (n.-49+27850C>A) c.1005C>A (p.Ala335=) | |
| 22 | g.42692948G>A | CA411810051 | A4GALT,CYB5R3 | c.-49+27849C>T (n.-49+27849C>T) c.1004C>T (p.Ala335Val) | gnomAD v4 |
| 22 | g.42692948G>C | CA411810052 | A4GALT,CYB5R3 | c.-49+27849C>G (n.-49+27849C>G) c.1004C>G (p.Ala335Gly) | |
| 22 | g.42692948G>T | CA411810053 | A4GALT,CYB5R3 | c.-49+27849C>A (n.-49+27849C>A) c.1004C>A (p.Ala335Asp) | gnomAD v4 COSMIC |
| 22 | g.42692949C>A | CA411810054 | A4GALT,CYB5R3 | c.-49+27848G>T (n.-49+27848G>T) c.1003G>T (p.Ala335Ser) | |
| 22 | g.42692949C>G | CA411810055 | A4GALT,CYB5R3 | c.-49+27848G>C (n.-49+27848G>C) c.1003G>C (p.Ala335Pro) | |
| 22 | g.42692949C>T | CA411810056 | A4GALT,CYB5R3 | c.-49+27848G>A (n.-49+27848G>A) c.1003G>A (p.Ala335Thr) | gnomAD v4 |
| 22 | g.42692950C>A | CA515070478 | A4GALT,CYB5R3 | c.-49+27847G>T (n.-49+27847G>T) c.1002G>T (p.Leu334=) | |
| 22 | g.42692950C= | CA2406870040 | A4GALT,CYB5R3 | c.-49+27847G= (n.-49+27847G=) c.1002G= (p.Leu334=) | |
| 22 | g.42692950C>G | CA515070480 | A4GALT,CYB5R3 | c.-49+27847G>C (n.-49+27847G>C) c.1002G>C (p.Leu334=) | gnomAD v4 |
| 22 | g.42692950C>T | CA515070479 | A4GALT,CYB5R3 | c.-49+27847G>A (n.-49+27847G>A) c.1002G>A (p.Leu334=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692951A>C | CA411810057 | A4GALT,CYB5R3 | c.-49+27846T>G (n.-49+27846T>G) c.1001T>G (p.Leu334Arg) | |
| 22 | g.42692951A>G | CA411810058 | A4GALT,CYB5R3 | c.-49+27846T>C (n.-49+27846T>C) c.1001T>C (p.Leu334Pro) | |
| 22 | g.42692951A>T | CA411810059 | A4GALT,CYB5R3 | c.-49+27846T>A (n.-49+27846T>A) c.1001T>A (p.Leu334Gln) | |
| 22 | g.42692952G>A | CA10270163 | A4GALT,CYB5R3 | c.-49+27845C>T (n.-49+27845C>T) c.1000C>T (p.Leu334=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692952G>C | CA411810060 | A4GALT,CYB5R3 | c.-49+27845C>G (n.-49+27845C>G) c.1000C>G (p.Leu334Val) | |
| 22 | g.42692952G= | CA2406870041 | A4GALT,CYB5R3 | c.-49+27845C= (n.-49+27845C=) c.1000C= (p.Leu334=) | |
| 22 | g.42692952G>T | CA411810061 | A4GALT,CYB5R3 | c.-49+27845C>A (n.-49+27845C>A) c.1000C>A (p.Leu334Met) | gnomAD v4 |
| 22 | g.42692953C>A | CA515070481 | A4GALT,CYB5R3 | c.-49+27844G>T (n.-49+27844G>T) c.999G>T (p.Leu333=) | |
| 22 | g.42692953C>G | CA515070482 | A4GALT,CYB5R3 | c.-49+27844G>C (n.-49+27844G>C) c.999G>C (p.Leu333=) | |
| 22 | g.42692953C>T | CA515070483 | A4GALT,CYB5R3 | c.-49+27844G>A (n.-49+27844G>A) c.999G>A (p.Leu333=) | gnomAD v4 |
| 22 | g.42692954A= | CA2406870043 | A4GALT,CYB5R3 | c.-49+27843T= (n.-49+27843T=) c.998T= (p.Leu333=) | |
| 22 | g.42692954A>C | CA411810063 | A4GALT,CYB5R3 | c.-49+27843T>G (n.-49+27843T>G) c.998T>G (p.Leu333Arg) | |
| 22 | g.42692954A>G | CA411810064 | A4GALT,CYB5R3 | c.-49+27843T>C (n.-49+27843T>C) c.998T>C (p.Leu333Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692954A>T | CA411810062 | A4GALT,CYB5R3 | c.-49+27843T>A (n.-49+27843T>A) c.998T>A (p.Leu333Gln) | |
| 22 | g.42692954_42692980delinsAGTGCCCTGGACGTGGCCTCGAACCGC | CA2406870042 | A4GALT,CYB5R3 | c.-49+27817_-49+27843delinsGCGGTTCGAGGCCACGTCCAGGGCACT (n.-49+27817_-49+27843delinsGCGGTTCGAGGCCACGTCCAGGGCACT) c.972_998delinsGCGGTTCGAGGCCACGTCCAGGGCACT (p.Thr324=) | |
| 22 | g.42692955G>A | CA515070484 | A4GALT,CYB5R3 | c.-49+27842C>T (n.-49+27842C>T) c.997C>T (p.Leu333=) | |
| 22 | g.42692955G>C | CA411810065 | A4GALT,CYB5R3 | c.-49+27842C>G (n.-49+27842C>G) c.997C>G (p.Leu333Val) | |
| 22 | g.42692955G>T | CA411810066 | A4GALT,CYB5R3 | c.-49+27842C>A (n.-49+27842C>A) c.997C>A (p.Leu333Met) | |
| 22 | g.42692964_42692989del | CA10270164 | A4GALT,CYB5R3 | c.-49+27817_-49+27842del (n.-49+27817_-49+27842del) c.972_997del (p.Arg325AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692956T>A | CA515070487 | A4GALT,CYB5R3 | c.-49+27841A>T (n.-49+27841A>T) c.996A>T (p.Ala332=) | |
| 22 | g.42692956T>C | CA515070485 | A4GALT,CYB5R3 | c.-49+27841A>G (n.-49+27841A>G) c.996A>G (p.Ala332=) | |
| 22 | g.42692956T>G | CA515070486 | A4GALT,CYB5R3 | c.-49+27841A>C (n.-49+27841A>C) c.996A>C (p.Ala332=) | |
| 22 | g.42692957G>A | CA10270165 | A4GALT,CYB5R3 | c.-49+27840C>T (n.-49+27840C>T) c.995C>T (p.Ala332Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692957G>C | CA411810067 | A4GALT,CYB5R3 | c.-49+27840C>G (n.-49+27840C>G) c.995C>G (p.Ala332Gly) | |
| 22 | g.42692957G= | CA2406870044 | A4GALT,CYB5R3 | c.-49+27840C= (n.-49+27840C=) c.995C= (p.Ala332=) | |
| 22 | g.42692957G>T | CA411810068 | A4GALT,CYB5R3 | c.-49+27840C>A (n.-49+27840C>A) c.995C>A (p.Ala332Glu) | |
| 22 | g.42692958C>A | CA411810069 | A4GALT,CYB5R3 | c.-49+27839G>T (n.-49+27839G>T) c.994G>T (p.Ala332Ser) | gnomAD v4 |
| 22 | g.42692958C>G | CA411810071 | A4GALT,CYB5R3 | c.-49+27839G>C (n.-49+27839G>C) c.994G>C (p.Ala332Pro) | |
| 22 | g.42692958C>T | CA411810070 | A4GALT,CYB5R3 | c.-49+27839G>A (n.-49+27839G>A) c.994G>A (p.Ala332Thr) | |
| 22 | g.42692959C>A | CA411810072 | A4GALT,CYB5R3 | c.-49+27838G>T (n.-49+27838G>T) c.993G>T (p.Arg331Ser) | |
| 22 | g.42692959C>G | CA411810073 | A4GALT,CYB5R3 | c.-49+27838G>C (n.-49+27838G>C) c.993G>C (p.Arg331Ser) | |
| 22 | g.42692959C>T | CA515070488 | A4GALT,CYB5R3 | c.-49+27838G>A (n.-49+27838G>A) c.993G>A (p.Arg331=) | COSMIC |
| 22 | g.42692960C>A | CA411810074 | A4GALT,CYB5R3 | c.-49+27837G>T (n.-49+27837G>T) c.992G>T (p.Arg331Met) | |
| 22 | g.42692960C>G | CA411810075 | A4GALT,CYB5R3 | c.-49+27837G>C (n.-49+27837G>C) c.992G>C (p.Arg331Thr) | |
| 22 | g.42692960C>T | CA411810076 | A4GALT,CYB5R3 | c.-49+27837G>A (n.-49+27837G>A) c.992G>A (p.Arg331Lys) | |
| 22 | g.42692961T>A | CA411810077 | A4GALT,CYB5R3 | c.-49+27836A>T (n.-49+27836A>T) c.991A>T (p.Arg331Trp) | |
| 22 | g.42692961T>C | CA411810078 | A4GALT,CYB5R3 | c.-49+27836A>G (n.-49+27836A>G) c.991A>G (p.Arg331Gly) | gnomAD v4 |
| 22 | g.42692961T>G | CA515070489 | A4GALT,CYB5R3 | c.-49+27836A>C (n.-49+27836A>C) c.991A>C (p.Arg331=) | gnomAD v4 |
| 22 | g.42692962G>A | CA515070490 | A4GALT,CYB5R3 | c.-49+27835C>T (n.-49+27835C>T) c.990C>T (p.Ser330=) | |
| 22 | g.42692962G>C | CA515070491 | A4GALT,CYB5R3 | c.-49+27835C>G (n.-49+27835C>G) c.990C>G (p.Ser330=) | |
| 22 | g.42692962G>T | CA515070492 | A4GALT,CYB5R3 | c.-49+27835C>A (n.-49+27835C>A) c.990C>A (p.Ser330=) | gnomAD v4 COSMIC |
| 22 | g.42692963G>A | CA411810079 | A4GALT,CYB5R3 | c.-49+27834C>T (n.-49+27834C>T) c.989C>T (p.Ser330Phe) | |
| 22 | g.42692963G>C | CA411810080 | A4GALT,CYB5R3 | c.-49+27834C>G (n.-49+27834C>G) c.989C>G (p.Ser330Cys) | |
| 22 | g.42692963G>T | CA411810081 | A4GALT,CYB5R3 | c.-49+27834C>A (n.-49+27834C>A) c.989C>A (p.Ser330Tyr) | gnomAD v4 |
| 22 | g.42692964A>C | CA411810082 | A4GALT,CYB5R3 | c.-49+27833T>G (n.-49+27833T>G) c.988T>G (p.Ser330Ala) | |
| 22 | g.42692964A>G | CA411810083 | A4GALT,CYB5R3 | c.-49+27833T>C (n.-49+27833T>C) c.988T>C (p.Ser330Pro) | |
| 22 | g.42692964A>T | CA411810084 | A4GALT,CYB5R3 | c.-49+27833T>A (n.-49+27833T>A) c.988T>A (p.Ser330Thr) | |
| 22 | g.42692965C>A | CA515070493 | A4GALT,CYB5R3 | c.-49+27832G>T (n.-49+27832G>T) c.987G>T (p.Thr329=) | gnomAD v4 |
| 22 | g.42692965C= | CA2406870045 | A4GALT,CYB5R3 | c.-49+27832G= (n.-49+27832G=) c.987G= (p.Thr329=) | |
| 22 | g.42692965C>G | CA515070494 | A4GALT,CYB5R3 | c.-49+27832G>C (n.-49+27832G>C) c.987G>C (p.Thr329=) | |
| 22 | g.42692965C>T | CA10270166 | A4GALT,CYB5R3 | c.-49+27832G>A (n.-49+27832G>A) c.987G>A (p.Thr329=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692966G>A | CA10270167 | A4GALT,CYB5R3 | c.-49+27831C>T (n.-49+27831C>T) c.986C>T (p.Thr329Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692966G>C | CA411810085 | A4GALT,CYB5R3 | c.-49+27831C>G (n.-49+27831C>G) c.986C>G (p.Thr329Arg) | |
| 22 | g.42692966G= | CA2406870046 | A4GALT,CYB5R3 | c.-49+27831C= (n.-49+27831C=) c.986C= (p.Thr329=) | |
| 22 | g.42692966G>T | CA411810086 | A4GALT,CYB5R3 | c.-49+27831C>A (n.-49+27831C>A) c.986C>A (p.Thr329Lys) | |
| 22 | g.42692967T>A | CA411810087 | A4GALT,CYB5R3 | c.-49+27830A>T (n.-49+27830A>T) c.985A>T (p.Thr329Ser) | |
| 22 | g.42692967T>C | CA10270168 | A4GALT,CYB5R3 | c.-49+27830A>G (n.-49+27830A>G) c.985A>G (p.Thr329Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692967T>G | CA411810088 | A4GALT,CYB5R3 | c.-49+27830A>C (n.-49+27830A>C) c.985A>C (p.Thr329Pro) | |
| 22 | g.42692967T= | CA2406870047 | A4GALT,CYB5R3 | c.-49+27830A= (n.-49+27830A=) c.985A= (p.Thr329=) | |
| 22 | g.42692968G>A | CA324732086 | A4GALT,CYB5R3 | c.-49+27829C>T (n.-49+27829C>T) c.984C>T (p.Ala328=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692968G>C | CA515070495 | A4GALT,CYB5R3 | c.-49+27829C>G (n.-49+27829C>G) c.984C>G (p.Ala328=) | |
| 22 | g.42692968G= | CA2406870048 | A4GALT,CYB5R3 | c.-49+27829C= (n.-49+27829C=) c.984C= (p.Ala328=) | |
| 22 | g.42692968G>T | CA515070496 | A4GALT,CYB5R3 | c.-49+27829C>A (n.-49+27829C>A) c.984C>A (p.Ala328=) | |
| 22 | g.42692969G>A | CA411810091 | A4GALT,CYB5R3 | c.-49+27828C>T (n.-49+27828C>T) c.983C>T (p.Ala328Val) | |
| 22 | g.42692969G>C | CA411810090 | A4GALT,CYB5R3 | c.-49+27828C>G (n.-49+27828C>G) c.983C>G (p.Ala328Gly) | |
| 22 | g.42692969G>T | CA411810089 | A4GALT,CYB5R3 | c.-49+27828C>A (n.-49+27828C>A) c.983C>A (p.Ala328Asp) | gnomAD v4 COSMIC |
| 22 | g.42692970C>A | CA411810092 | A4GALT,CYB5R3 | c.-49+27827G>T (n.-49+27827G>T) c.982G>T (p.Ala328Ser) | |
| 22 | g.42692970C= | CA2406870049 | A4GALT,CYB5R3 | c.-49+27827G= (n.-49+27827G=) c.982G= (p.Ala328=) | |
| 22 | g.42692970C>G | CA411810093 | A4GALT,CYB5R3 | c.-49+27827G>C (n.-49+27827G>C) c.982G>C (p.Ala328Pro) | |
| 22 | g.42692970C>T | CA411810094 | A4GALT,CYB5R3 | c.-49+27827G>A (n.-49+27827G>A) c.982G>A (p.Ala328Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692971C>A | CA411810095 | A4GALT,CYB5R3 | c.-49+27826G>T (n.-49+27826G>T) c.981G>T (p.Glu327Asp) | |
| 22 | g.42692971C>G | CA411810096 | A4GALT,CYB5R3 | c.-49+27826G>C (n.-49+27826G>C) c.981G>C (p.Glu327Asp) | gnomAD v4 |
| 22 | g.42692971C>T | CA515070497 | A4GALT,CYB5R3 | c.-49+27826G>A (n.-49+27826G>A) c.981G>A (p.Glu327=) | |
| 22 | g.42692972T>A | CA411810097 | A4GALT,CYB5R3 | c.-49+27825A>T (n.-49+27825A>T) c.980A>T (p.Glu327Val) | |
| 22 | g.42692972T>C | CA411810098 | A4GALT,CYB5R3 | c.-49+27825A>G (n.-49+27825A>G) c.980A>G (p.Glu327Gly) | |
| 22 | g.42692972T>G | CA411810099 | A4GALT,CYB5R3 | c.-49+27825A>C (n.-49+27825A>C) c.980A>C (p.Glu327Ala) | |
| 22 | g.42692973C>A | CA10270169 | A4GALT,CYB5R3 | c.-49+27824G>T (n.-49+27824G>T) c.979G>T (p.Glu327Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692973C= | CA2406870050 | A4GALT,CYB5R3 | c.-49+27824G= (n.-49+27824G=) c.979G= (p.Glu327=) | |
| 22 | g.42692973C>G | CA411810100 | A4GALT,CYB5R3 | c.-49+27824G>C (n.-49+27824G>C) c.979G>C (p.Glu327Gln) | |
| 22 | g.42692973C>T | CA411810101 | A4GALT,CYB5R3 | c.-49+27824G>A (n.-49+27824G>A) c.979G>A (p.Glu327Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692974G>A | CA10270170 | A4GALT,CYB5R3 | c.-49+27823C>T (n.-49+27823C>T) c.978C>T (p.Phe326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42692974G>C | CA411810102 | A4GALT,CYB5R3 | c.-49+27823C>G (n.-49+27823C>G) c.978C>G (p.Phe326Leu) | gnomAD v4 |
| 22 | g.42692974G= | CA2406870051 | A4GALT,CYB5R3 | c.-49+27823C= (n.-49+27823C=) c.978C= (p.Phe326=) | |
| 22 | g.42692974G>T | CA411810103 | A4GALT,CYB5R3 | c.-49+27823C>A (n.-49+27823C>A) c.978C>A (p.Phe326Leu) | |
| 22 | g.42692975A= | CA2406870052 | A4GALT,CYB5R3 | c.-49+27822T= (n.-49+27822T=) c.977T= (p.Phe326=) | |
| 22 | g.42692975A>C | CA411810105 | A4GALT,CYB5R3 | c.-49+27822T>G (n.-49+27822T>G) c.977T>G (p.Phe326Cys) | dbSNP |
| 22 | g.42692975A>G | CA411810106 | A4GALT,CYB5R3 | c.-49+27822T>C (n.-49+27822T>C) c.977T>C (p.Phe326Ser) | dbSNP |
| 22 | g.42692975A>T | CA411810104 | A4GALT,CYB5R3 | c.-49+27822T>A (n.-49+27822T>A) c.977T>A (p.Phe326Tyr) | |
| 22 | g.42692976A>C | CA411810107 | A4GALT,CYB5R3 | c.-49+27821T>G (n.-49+27821T>G) c.976T>G (p.Phe326Val) | |
| 22 | g.42692976A>G | CA411810108 | A4GALT,CYB5R3 | c.-49+27821T>C (n.-49+27821T>C) c.976T>C (p.Phe326Leu) | gnomAD v4 |
| 22 | g.42692976A>T | CA411810109 | A4GALT,CYB5R3 | c.-49+27821T>A (n.-49+27821T>A) c.976T>A (p.Phe326Ile) | |
| 22 | g.42692977C>A | CA515070498 | A4GALT,CYB5R3 | c.-49+27820G>T (n.-49+27820G>T) c.975G>T (p.Arg325=) | |
| 22 | g.42692977C= | CA2406870053 | A4GALT,CYB5R3 | c.-49+27820G= (n.-49+27820G=) c.975G= (p.Arg325=) | |
| 22 | g.42692977C>G | CA515070500 | A4GALT,CYB5R3 | c.-49+27820G>C (n.-49+27820G>C) c.975G>C (p.Arg325=) | |
| 22 | g.42692977C>T | CA515070499 | A4GALT,CYB5R3 | c.-49+27820G>A (n.-49+27820G>A) c.975G>A (p.Arg325=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42692978C>A | CA411810110 | A4GALT,CYB5R3 | c.-49+27819G>T (n.-49+27819G>T) c.974G>T (p.Arg325Leu) | |
| 22 | g.42692978C= | CA2406870054 | A4GALT,CYB5R3 | c.-49+27819G= (n.-49+27819G=) c.974G= (p.Arg325=) | |
| 22 | g.42692978C>G | CA10270171 | A4GALT,CYB5R3 | c.-49+27819G>C (n.-49+27819G>C) c.974G>C (p.Arg325Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692978C>T | CA10270172 | A4GALT,CYB5R3 | c.-49+27819G>A (n.-49+27819G>A) c.974G>A (p.Arg325Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692979G>A | CA10270173 | A4GALT,CYB5R3 | c.-49+27818C>T (n.-49+27818C>T) c.973C>T (p.Arg325Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42692979G>C | CA411810111 | A4GALT,CYB5R3 | c.-49+27818C>G (n.-49+27818C>G) c.973C>G (p.Arg325Gly) | |
| 22 | g.42692979G= | CA2406870055 | A4GALT,CYB5R3 | c.-49+27818C= (n.-49+27818C=) c.973C= (p.Arg325=) | |
| 22 | g.42692979G>T | CA515070501 | A4GALT,CYB5R3 | c.-49+27818C>A (n.-49+27818C>A) c.973C>A (p.Arg325=) | |
| 22 | g.42692980C>A | CA515070502 | A4GALT,CYB5R3 | c.-49+27817G>T (n.-49+27817G>T) c.972G>T (p.Thr324=) | gnomAD v4 |
| 22 | g.42692980C= | CA2406870056 | A4GALT,CYB5R3 | c.-49+27817G= (n.-49+27817G=) c.972G= (p.Thr324=) | |
| 22 | g.42692980C>G | CA515070503 | A4GALT,CYB5R3 | c.-49+27817G>C (n.-49+27817G>C) c.972G>C (p.Thr324=) | |
| 22 | g.42692980C>T | CA10270174 | A4GALT,CYB5R3 | c.-49+27817G>A (n.-49+27817G>A) c.972G>A (p.Thr324=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692981G>A | CA10270175 | A4GALT,CYB5R3 | c.-49+27816C>T (n.-49+27816C>T) c.971C>T (p.Thr324Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692981G>C | CA411810112 | A4GALT,CYB5R3 | c.-49+27816C>G (n.-49+27816C>G) c.971C>G (p.Thr324Arg) | |
| 22 | g.42692981G= | CA2406870057 | A4GALT,CYB5R3 | c.-49+27816C= (n.-49+27816C=) c.971C= (p.Thr324=) | |
| 22 | g.42692981G>T | CA411810113 | A4GALT,CYB5R3 | c.-49+27816C>A (n.-49+27816C>A) c.971C>A (p.Thr324Lys) | |
| 22 | g.42692982T>A | CA411810116 | A4GALT,CYB5R3 | c.-49+27815A>T (n.-49+27815A>T) c.970A>T (p.Thr324Ser) | |
| 22 | g.42692982T>C | CA411810115 | A4GALT,CYB5R3 | c.-49+27815A>G (n.-49+27815A>G) c.970A>G (p.Thr324Ala) | |
| 22 | g.42692982T>G | CA411810114 | A4GALT,CYB5R3 | c.-49+27815A>C (n.-49+27815A>C) c.970A>C (p.Thr324Pro) | |
| 22 | g.42692983G>A | CA324732098 | A4GALT,CYB5R3 | c.-49+27814C>T (n.-49+27814C>T) c.969C>T (p.Gly323=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42692983G>C | CA515070505 | A4GALT,CYB5R3 | c.-49+27814C>G (n.-49+27814C>G) c.969C>G (p.Gly323=) | |
| 22 | g.42692983G= | CA2406870058 | A4GALT,CYB5R3 | c.-49+27814C= (n.-49+27814C=) c.969C= (p.Gly323=) | |
| 22 | g.42692983G>T | CA515070504 | A4GALT,CYB5R3 | c.-49+27814C>A (n.-49+27814C>A) c.969C>A (p.Gly323=) | |
| 22 | g.42692984C>A | CA411810117 | A4GALT,CYB5R3 | c.-49+27813G>T (n.-49+27813G>T) c.968G>T (p.Gly323Val) | |
| 22 | g.42692984C>G | CA411810118 | A4GALT,CYB5R3 | c.-49+27813G>C (n.-49+27813G>C) c.968G>C (p.Gly323Ala) | |
| 22 | g.42692984C>T | CA411810119 | A4GALT,CYB5R3 | c.-49+27813G>A (n.-49+27813G>A) c.968G>A (p.Gly323Asp) | |
| 22 | g.42692985C>A | CA411810120 | A4GALT,CYB5R3 | c.-49+27812G>T (n.-49+27812G>T) c.967G>T (p.Gly323Cys) | |
| 22 | g.42692985C= | CA2406870059 | A4GALT,CYB5R3 | c.-49+27812G= (n.-49+27812G=) c.967G= (p.Gly323=) | |
| 22 | g.42692985C>G | CA411810121 | A4GALT,CYB5R3 | c.-49+27812G>C (n.-49+27812G>C) c.967G>C (p.Gly323Arg) | |
| 22 | g.42692985C>T | CA10270176 | A4GALT,CYB5R3 | c.-49+27812G>A (n.-49+27812G>A) c.967G>A (p.Gly323Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42692986C>A | CA411810122 | A4GALT,CYB5R3 | c.-49+27811G>T (n.-49+27811G>T) c.966G>T (p.Gln322His) | |
| 22 | g.42692986C>G | CA411810123 | A4GALT,CYB5R3 | c.-49+27811G>C (n.-49+27811G>C) c.966G>C (p.Gln322His) | COSMIC |
| 22 | g.42692986C>T | CA515070506 | A4GALT,CYB5R3 | c.-49+27811G>A (n.-49+27811G>A) c.966G>A (p.Gln322=) | |
| 22 | g.42692987T>A | CA411810124 | A4GALT,CYB5R3 | c.-49+27810A>T (n.-49+27810A>T) c.965A>T (p.Gln322Leu) | dbSNP |
| 22 | g.42692987T>C | CA411810125 | A4GALT,CYB5R3 | c.-49+27810A>G (n.-49+27810A>G) c.965A>G (p.Gln322Arg) | dbSNP |
| 22 | g.42692987T>G | CA411810126 | A4GALT,CYB5R3 | c.-49+27810A>C (n.-49+27810A>C) c.965A>C (p.Gln322Pro) | |
| 22 | g.42692987T= | CA2406870060 | A4GALT,CYB5R3 | c.-49+27810A= (n.-49+27810A=) c.965A= (p.Gln322=) | |
| 22 | g.42692987dup | CA2657079136 | A4GALT,CYB5R3 | c.-49+27810dup (n.-49+27810dup) c.965dup (p.Thr324HisfsTer?) | gnomAD v4 |
| 22 | g.42692988G>A | CA411810127 | A4GALT,CYB5R3 | c.-49+27809C>T (n.-49+27809C>T) c.964C>T (p.Gln322Ter) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42692988G>C | CA411810129 | A4GALT,CYB5R3 | c.-49+27809C>G (n.-49+27809C>G) c.964C>G (p.Gln322Glu) | |
| 22 | g.42692988G= | CA2406870061 | A4GALT,CYB5R3 | c.-49+27809C= (n.-49+27809C=) c.964C= (p.Gln322=) | |
| 22 | g.42692988G>T | CA411810128 | A4GALT,CYB5R3 | c.-49+27809C>A (n.-49+27809C>A) c.964C>A (p.Gln322Lys) | |
| 22 | g.42692989G>A | CA515070507 | A4GALT,CYB5R3 | c.-49+27808C>T (n.-49+27808C>T) c.963C>T (p.Ser321=) | COSMIC |
| 22 | g.42692989G>C | CA411810130 | A4GALT,CYB5R3 | c.-49+27808C>G (n.-49+27808C>G) c.963C>G (p.Ser321Arg) | |
| 22 | g.42692989G>T | CA411810131 | A4GALT,CYB5R3 | c.-49+27808C>A (n.-49+27808C>A) c.963C>A (p.Ser321Arg) | |
| 22 | g.42692990C>A | CA411810132 | A4GALT,CYB5R3 | c.-49+27807G>T (n.-49+27807G>T) c.962G>T (p.Ser321Ile) | gnomAD v4 |
| 22 | g.42692990C>G | CA411810134 | A4GALT,CYB5R3 | c.-49+27807G>C (n.-49+27807G>C) c.962G>C (p.Ser321Thr) | |
| 22 | g.42692990C>T | CA411810133 | A4GALT,CYB5R3 | c.-49+27807G>A (n.-49+27807G>A) c.962G>A (p.Ser321Asn) | gnomAD v3 gnomAD v4 |
| 22 | g.42692990_42692993delinsCTCT | CA2406870062 | A4GALT,CYB5R3 | c.-49+27804_-49+27807delinsAGAG (n.-49+27804_-49+27807delinsAGAG) c.959_962delinsAGAG (p.Lys320=) | |
| 22 | g.42692991T>A | CA411810135 | A4GALT,CYB5R3 | c.-49+27806A>T (n.-49+27806A>T) c.961A>T (p.Ser321Cys) | |
| 22 | g.42692991T>C | CA411810137 | A4GALT,CYB5R3 | c.-49+27806A>G (n.-49+27806A>G) c.961A>G (p.Ser321Gly) | |
| 22 | g.42692991T>G | CA411810136 | A4GALT,CYB5R3 | c.-49+27806A>C (n.-49+27806A>C) c.961A>C (p.Ser321Arg) | dbSNP gnomAD v4 |
| 22 | g.42692991T= | CA2406870063 | A4GALT,CYB5R3 | c.-49+27806A= (n.-49+27806A=) c.961A= (p.Ser321=) | |
| 22 | g.42692995_42692997del | CA753382650 | A4GALT,CYB5R3 | c.-49+27804_-49+27806del (n.-49+27804_-49+27806del) c.959_961del (p.Lys320del) | dbSNP gnomAD v3 gnomAD v4 |