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 |
|---|---|---|---|---|---|
| 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.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 |
| 22 | g.42692992C>A | CA411810138 | A4GALT,CYB5R3 | c.-49+27805G>T (n.-49+27805G>T) c.960G>T (p.Lys320Asn) | |
| 22 | g.42692992C>G | CA411810139 | A4GALT,CYB5R3 | c.-49+27805G>C (n.-49+27805G>C) c.960G>C (p.Lys320Asn) | |
| 22 | g.42692992C>T | CA515070508 | A4GALT,CYB5R3 | c.-49+27805G>A (n.-49+27805G>A) c.960G>A (p.Lys320=) | gnomAD v4 |
| 22 | g.42692993T>A | CA411810140 | A4GALT,CYB5R3 | c.-49+27804A>T (n.-49+27804A>T) c.959A>T (p.Lys320Met) | |
| 22 | g.42692993T>C | CA411810141 | A4GALT,CYB5R3 | c.-49+27804A>G (n.-49+27804A>G) c.959A>G (p.Lys320Arg) | |
| 22 | g.42692993T>G | CA411810142 | A4GALT,CYB5R3 | c.-49+27804A>C (n.-49+27804A>C) c.959A>C (p.Lys320Thr) | |
| 22 | g.42692994T>A | CA411810143 | A4GALT,CYB5R3 | c.-49+27803A>T (n.-49+27803A>T) c.958A>T (p.Lys320Ter) | |
| 22 | g.42692994T>C | CA411810144 | A4GALT,CYB5R3 | c.-49+27803A>G (n.-49+27803A>G) c.958A>G (p.Lys320Glu) | |
| 22 | g.42692994T>G | CA411810145 | A4GALT,CYB5R3 | c.-49+27803A>C (n.-49+27803A>C) c.958A>C (p.Lys320Gln) | |
| 22 | g.42692995C>A | CA411810146 | A4GALT,CYB5R3 | c.-49+27802G>T (n.-49+27802G>T) c.957G>T (p.Lys319Asn) | gnomAD v4 |
| 22 | g.42692995C= | CA2406870064 | A4GALT,CYB5R3 | c.-49+27802G= (n.-49+27802G=) c.957G= (p.Lys319=) | |
| 22 | g.42692995C>G | CA324732103 | A4GALT,CYB5R3 | c.-49+27802G>C (n.-49+27802G>C) c.957G>C (p.Lys319Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42692995C>T | CA515070509 | A4GALT,CYB5R3 | c.-49+27802G>A (n.-49+27802G>A) c.957G>A (p.Lys319=) | dbSNP gnomAD v4 |
| 22 | g.42692996T>A | CA411810155 | A4GALT,CYB5R3 | c.-49+27801A>T (n.-49+27801A>T) c.956A>T (p.Lys319Met) | |
| 22 | g.42692996T>C | CA411810153 | A4GALT,CYB5R3 | c.-49+27801A>G (n.-49+27801A>G) c.956A>G (p.Lys319Arg) | |
| 22 | g.42692996T>G | CA411810150 | A4GALT,CYB5R3 | c.-49+27801A>C (n.-49+27801A>C) c.956A>C (p.Lys319Thr) | |
| 22 | g.42692997T>A | CA411810157 | A4GALT,CYB5R3 | c.-49+27800A>T (n.-49+27800A>T) c.955A>T (p.Lys319Ter) | |
| 22 | g.42692997T>C | CA411810159 | A4GALT,CYB5R3 | c.-49+27800A>G (n.-49+27800A>G) c.955A>G (p.Lys319Glu) | gnomAD v4 |
| 22 | g.42692997T>G | CA411810161 | A4GALT,CYB5R3 | c.-49+27800A>C (n.-49+27800A>C) c.955A>C (p.Lys319Gln) | |
| 22 | g.42692998G>A | CA515070510 | A4GALT,CYB5R3 | c.-49+27799C>T (n.-49+27799C>T) c.954C>T (p.Asn318=) | |
| 22 | g.42692998G>C | CA411810163 | A4GALT,CYB5R3 | c.-49+27799C>G (n.-49+27799C>G) c.954C>G (p.Asn318Lys) | |
| 22 | g.42692998G>T | CA411810166 | A4GALT,CYB5R3 | c.-49+27799C>A (n.-49+27799C>A) c.954C>A (p.Asn318Lys) | gnomAD v4 |
| 22 | g.42692999T>A | CA411810170 | A4GALT,CYB5R3 | c.-49+27798A>T (n.-49+27798A>T) c.953A>T (p.Asn318Ile) | |
| 22 | g.42692999T>C | CA411810172 | A4GALT,CYB5R3 | c.-49+27798A>G (n.-49+27798A>G) c.953A>G (p.Asn318Ser) | gnomAD v4 |
| 22 | g.42692999T>G | CA411810175 | A4GALT,CYB5R3 | c.-49+27798A>C (n.-49+27798A>C) c.953A>C (p.Asn318Thr) | |
| 22 | g.42693000T>A | CA411810179 | A4GALT,CYB5R3 | c.-49+27797A>T (n.-49+27797A>T) c.952A>T (p.Asn318Tyr) | |
| 22 | g.42693000T>C | CA411810181 | A4GALT,CYB5R3 | c.-49+27797A>G (n.-49+27797A>G) c.952A>G (p.Asn318Asp) | |
| 22 | g.42693000T>G | CA411810183 | A4GALT,CYB5R3 | c.-49+27797A>C (n.-49+27797A>C) c.952A>C (p.Asn318His) | |
| 22 | g.42693001C>A | CA411810192 | A4GALT,CYB5R3 | c.-49+27796G>T (n.-49+27796G>T) c.951G>T (p.Trp317Cys) | |
| 22 | g.42693001C>G | CA411810189 | A4GALT,CYB5R3 | c.-49+27796G>C (n.-49+27796G>C) c.951G>C (p.Trp317Cys) | |
| 22 | g.42693001C>T | CA411810187 | A4GALT,CYB5R3 | c.-49+27796G>A (n.-49+27796G>A) c.951G>A (p.Trp317Ter) | |
| 22 | g.42693002C>A | CA411810193 | A4GALT,CYB5R3 | c.-49+27795G>T (n.-49+27795G>T) c.950G>T (p.Trp317Leu) | |
| 22 | g.42693002C= | CA2406870065 | A4GALT,CYB5R3 | c.-49+27795G= (n.-49+27795G=) c.950G= (p.Trp317=) | |
| 22 | g.42693002C>G | CA411810195 | A4GALT,CYB5R3 | c.-49+27795G>C (n.-49+27795G>C) c.950G>C (p.Trp317Ser) | |
| 22 | g.42693002C>T | CA411810198 | A4GALT,CYB5R3 | c.-49+27795G>A (n.-49+27795G>A) c.950G>A (p.Trp317Ter) | dbSNP gnomAD v2 |
| 22 | g.42693003A>C | CA411810201 | A4GALT,CYB5R3 | c.-49+27794T>G (n.-49+27794T>G) c.949T>G (p.Trp317Gly) | |
| 22 | g.42693003A>G | CA411810203 | A4GALT,CYB5R3 | c.-49+27794T>C (n.-49+27794T>C) c.949T>C (p.Trp317Arg) | |
| 22 | g.42693003A>T | CA411810205 | A4GALT,CYB5R3 | c.-49+27794T>A (n.-49+27794T>A) c.949T>A (p.Trp317Arg) | |
| 22 | g.42693004C>A | CA515070511 | A4GALT,CYB5R3 | c.-49+27793G>T (n.-49+27793G>T) c.948G>T (p.Val316=) | |
| 22 | g.42693004C>G | CA515070512 | A4GALT,CYB5R3 | c.-49+27793G>C (n.-49+27793G>C) c.948G>C (p.Val316=) | |
| 22 | g.42693004C>T | CA515070513 | A4GALT,CYB5R3 | c.-49+27793G>A (n.-49+27793G>A) c.948G>A (p.Val316=) | gnomAD v4 |
| 22 | g.42693005A= | CA2406870066 | A4GALT,CYB5R3 | c.-49+27792T= (n.-49+27792T=) c.947T= (p.Val316=) | |
| 22 | g.42693005A>C | CA411810208 | A4GALT,CYB5R3 | c.-49+27792T>G (n.-49+27792T>G) c.947T>G (p.Val316Gly) | |
| 22 | g.42693005A>G | CA10270177 | A4GALT,CYB5R3 | c.-49+27792T>C (n.-49+27792T>C) c.947T>C (p.Val316Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693005A>T | CA411810210 | A4GALT,CYB5R3 | c.-49+27792T>A (n.-49+27792T>A) c.947T>A (p.Val316Glu) | |
| 22 | g.42693006C>A | CA411810212 | A4GALT,CYB5R3 | c.-49+27791G>T (n.-49+27791G>T) c.946G>T (p.Val316Leu) | |
| 22 | g.42693006C= | CA2406870067 | A4GALT,CYB5R3 | c.-49+27791G= (n.-49+27791G=) c.946G= (p.Val316=) | |
| 22 | g.42693006C>G | CA411810214 | A4GALT,CYB5R3 | c.-49+27791G>C (n.-49+27791G>C) c.946G>C (p.Val316Leu) | |
| 22 | g.42693006C>T | CA10270178 | A4GALT,CYB5R3 | c.-49+27791G>A (n.-49+27791G>A) c.946G>A (p.Val316Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693007G>A | CA515070514 | A4GALT,CYB5R3 | c.-49+27790C>T (n.-49+27790C>T) c.945C>T (p.His315=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693007G>C | CA411810219 | A4GALT,CYB5R3 | c.-49+27790C>G (n.-49+27790C>G) c.945C>G (p.His315Gln) | gnomAD v4 |
| 22 | g.42693007G= | CA2406870068 | A4GALT,CYB5R3 | c.-49+27790C= (n.-49+27790C=) c.945C= (p.His315=) | |
| 22 | g.42693007G>T | CA411810217 | A4GALT,CYB5R3 | c.-49+27790C>A (n.-49+27790C>A) c.945C>A (p.His315Gln) | |
| 22 | g.42693008T>A | CA411810221 | A4GALT,CYB5R3 | c.-49+27789A>T (n.-49+27789A>T) c.944A>T (p.His315Leu) | |
| 22 | g.42693008T>C | CA411810224 | A4GALT,CYB5R3 | c.-49+27789A>G (n.-49+27789A>G) c.944A>G (p.His315Arg) | |
| 22 | g.42693008T>G | CA411810225 | A4GALT,CYB5R3 | c.-49+27789A>C (n.-49+27789A>C) c.944A>C (p.His315Pro) | |
| 22 | g.42693009G>A | CA324732109 | A4GALT,CYB5R3 | c.-49+27788C>T (n.-49+27788C>T) c.943C>T (p.His315Tyr) | dbSNP |
| 22 | g.42693009G>C | CA411810228 | A4GALT,CYB5R3 | c.-49+27788C>G (n.-49+27788C>G) c.943C>G (p.His315Asp) | |
| 22 | g.42693009G= | CA2406870069 | A4GALT,CYB5R3 | c.-49+27788C= (n.-49+27788C=) c.943C= (p.His315=) | |
| 22 | g.42693009G>T | CA411810231 | A4GALT,CYB5R3 | c.-49+27788C>A (n.-49+27788C>A) c.943C>A (p.His315Asn) | |
| 22 | g.42693010G>A | CA515070515 | A4GALT,CYB5R3 | c.-49+27787C>T (n.-49+27787C>T) c.942C>T (p.Val314=) | |
| 22 | g.42693010G>C | CA10270179 | A4GALT,CYB5R3 | c.-49+27787C>G (n.-49+27787C>G) c.942C>G (p.Val314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693010G= | CA2406870070 | A4GALT,CYB5R3 | c.-49+27787C= (n.-49+27787C=) c.942C= (p.Val314=) | |
| 22 | g.42693010G>T | CA515070516 | A4GALT,CYB5R3 | c.-49+27787C>A (n.-49+27787C>A) c.942C>A (p.Val314=) | |
| 22 | g.42693011A>C | CA411810237 | A4GALT,CYB5R3 | c.-49+27786T>G (n.-49+27786T>G) c.941T>G (p.Val314Gly) | |
| 22 | g.42693011A>G | CA411810239 | A4GALT,CYB5R3 | c.-49+27786T>C (n.-49+27786T>C) c.941T>C (p.Val314Ala) | |
| 22 | g.42693011A>T | CA411810242 | A4GALT,CYB5R3 | c.-49+27786T>A (n.-49+27786T>A) c.941T>A (p.Val314Asp) | |
| 22 | g.42693012C>A | CA411810244 | A4GALT,CYB5R3 | c.-49+27785G>T (n.-49+27785G>T) c.940G>T (p.Val314Phe) | |
| 22 | g.42693012C= | CA2406870071 | A4GALT,CYB5R3 | c.-49+27785G= (n.-49+27785G=) c.940G= (p.Val314=) | |
| 22 | g.42693012C>G | CA411810246 | A4GALT,CYB5R3 | c.-49+27785G>C (n.-49+27785G>C) c.940G>C (p.Val314Leu) | gnomAD v4 |
| 22 | g.42693012C>T | CA324732112 | A4GALT,CYB5R3 | c.-49+27785G>A (n.-49+27785G>A) c.940G>A (p.Val314Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693014_42693016dup | CA2657079198 | A4GALT,CYB5R3 | c.-49+27783_-49+27785dup (n.-49+27783_-49+27785dup) c.938_940dup (p.Ala313_Val314insAla) | gnomAD v4 |
| 22 | g.42693013A>C | CA515070519 | A4GALT,CYB5R3 | c.-49+27784T>G (n.-49+27784T>G) c.939T>G (p.Ala313=) | |
| 22 | g.42693013A>G | CA515070518 | A4GALT,CYB5R3 | c.-49+27784T>C (n.-49+27784T>C) c.939T>C (p.Ala313=) | |
| 22 | g.42693013A>T | CA515070517 | A4GALT,CYB5R3 | c.-49+27784T>A (n.-49+27784T>A) c.939T>A (p.Ala313=) | |
| 22 | g.42693014G>A | CA324732115 | A4GALT,CYB5R3 | c.-49+27783C>T (n.-49+27783C>T) c.938C>T (p.Ala313Val) | dbSNP gnomAD v4 |
| 22 | g.42693014G>C | CA411810253 | A4GALT,CYB5R3 | c.-49+27783C>G (n.-49+27783C>G) c.938C>G (p.Ala313Gly) | |
| 22 | g.42693014G= | CA2406870072 | A4GALT,CYB5R3 | c.-49+27783C= (n.-49+27783C=) c.938C= (p.Ala313=) | |
| 22 | g.42693014G>T | CA411810250 | A4GALT,CYB5R3 | c.-49+27783C>A (n.-49+27783C>A) c.938C>A (p.Ala313Asp) | |
| 22 | g.42693015C>A | CA411810258 | A4GALT,CYB5R3 | c.-49+27782G>T (n.-49+27782G>T) c.937G>T (p.Ala313Ser) | dbSNP |
| 22 | g.42693015C= | CA2406870073 | A4GALT,CYB5R3 | c.-49+27782G= (n.-49+27782G=) c.937G= (p.Ala313=) | |
| 22 | g.42693015C>G | CA411810260 | A4GALT,CYB5R3 | c.-49+27782G>C (n.-49+27782G>C) c.937G>C (p.Ala313Pro) | |
| 22 | g.42693015C>T | CA411810263 | A4GALT,CYB5R3 | c.-49+27782G>A (n.-49+27782G>A) c.937G>A (p.Ala313Thr) | gnomAD v4 |
| 22 | g.42693016A= | CA2406870074 | A4GALT,CYB5R3 | c.-49+27781T= (n.-49+27781T=) c.936T= (p.Tyr312=) | |
| 22 | g.42693016A>C | CA411810266 | A4GALT,CYB5R3 | c.-49+27781T>G (n.-49+27781T>G) c.936T>G (p.Tyr312Ter) | |
| 22 | g.42693016A>G | CA10270180 | A4GALT,CYB5R3 | c.-49+27781T>C (n.-49+27781T>C) c.936T>C (p.Tyr312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693016A>T | CA411810270 | A4GALT,CYB5R3 | c.-49+27781T>A (n.-49+27781T>A) c.936T>A (p.Tyr312Ter) | |
| 22 | g.42693017T>A | CA411810278 | A4GALT,CYB5R3 | c.-49+27780A>T (n.-49+27780A>T) c.935A>T (p.Tyr312Phe) | |
| 22 | g.42693017T>C | CA411810273 | A4GALT,CYB5R3 | c.-49+27780A>G (n.-49+27780A>G) c.935A>G (p.Tyr312Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693017T>G | CA411810275 | A4GALT,CYB5R3 | c.-49+27780A>C (n.-49+27780A>C) c.935A>C (p.Tyr312Ser) | |
| 22 | g.42693017T= | CA2406870075 | A4GALT,CYB5R3 | c.-49+27780A= (n.-49+27780A=) c.935A= (p.Tyr312=) | |
| 22 | g.42693018A>C | CA411810281 | A4GALT,CYB5R3 | c.-49+27779T>G (n.-49+27779T>G) c.934T>G (p.Tyr312Asp) | |
| 22 | g.42693018A>G | CA411810283 | A4GALT,CYB5R3 | c.-49+27779T>C (n.-49+27779T>C) c.934T>C (p.Tyr312His) | |
| 22 | g.42693018A>T | CA411810286 | A4GALT,CYB5R3 | c.-49+27779T>A (n.-49+27779T>A) c.934T>A (p.Tyr312Asn) | |
| 22 | g.42693019G>A | CA515070520 | A4GALT,CYB5R3 | c.-49+27778C>T (n.-49+27778C>T) c.933C>T (p.Thr311=) | gnomAD v4 |
| 22 | g.42693019G>C | CA324732119 | A4GALT,CYB5R3 | c.-49+27778C>G (n.-49+27778C>G) c.933C>G (p.Thr311=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693019G= | CA2406870076 | A4GALT,CYB5R3 | c.-49+27778C= (n.-49+27778C=) c.933C= (p.Thr311=) | |
| 22 | g.42693019G>T | CA515070521 | A4GALT,CYB5R3 | c.-49+27778C>A (n.-49+27778C>A) c.933C>A (p.Thr311=) | |
| 22 | g.42693020G>A | CA411810289 | A4GALT,CYB5R3 | c.-49+27777C>T (n.-49+27777C>T) c.932C>T (p.Thr311Ile) | |
| 22 | g.42693020G>C | CA411810291 | A4GALT,CYB5R3 | c.-49+27777C>G (n.-49+27777C>G) c.932C>G (p.Thr311Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693020G>T | CA411810293 | A4GALT,CYB5R3 | c.-49+27777C>A (n.-49+27777C>A) c.932C>A (p.Thr311Asn) | |
| 22 | g.42693021T>A | CA411810297 | A4GALT,CYB5R3 | c.-49+27776A>T (n.-49+27776A>T) c.931A>T (p.Thr311Ser) | |
| 22 | g.42693021T>C | CA411810299 | A4GALT,CYB5R3 | c.-49+27776A>G (n.-49+27776A>G) c.931A>G (p.Thr311Ala) | gnomAD v4 |
| 22 | g.42693021T>G | CA411810298 | A4GALT,CYB5R3 | c.-49+27776A>C (n.-49+27776A>C) c.931A>C (p.Thr311Pro) | |
| 22 | g.42693022G>A | CA10270181 | A4GALT,CYB5R3 | c.-49+27775C>T (n.-49+27775C>T) c.930C>T (p.Ala310=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693022G>C | CA515070523 | A4GALT,CYB5R3 | c.-49+27775C>G (n.-49+27775C>G) c.930C>G (p.Ala310=) | |
| 22 | g.42693022G= | CA2406870077 | A4GALT,CYB5R3 | c.-49+27775C= (n.-49+27775C=) c.930C= (p.Ala310=) | |
| 22 | g.42693022G>T | CA515070522 | A4GALT,CYB5R3 | c.-49+27775C>A (n.-49+27775C>A) c.930C>A (p.Ala310=) | |
| 22 | g.42693023G>A | CA411810305 | A4GALT,CYB5R3 | c.-49+27774C>T (n.-49+27774C>T) c.929C>T (p.Ala310Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693023G>C | CA411810307 | A4GALT,CYB5R3 | c.-49+27774C>G (n.-49+27774C>G) c.929C>G (p.Ala310Gly) | |
| 22 | g.42693023G= | CA2406870078 | A4GALT,CYB5R3 | c.-49+27774C= (n.-49+27774C=) c.929C= (p.Ala310=) | |
| 22 | g.42693023G>T | CA411810308 | A4GALT,CYB5R3 | c.-49+27774C>A (n.-49+27774C>A) c.929C>A (p.Ala310Asp) | gnomAD v4 |
| 22 | g.42693024C>A | CA411810312 | A4GALT,CYB5R3 | c.-49+27773G>T (n.-49+27773G>T) c.928G>T (p.Ala310Ser) | |
| 22 | g.42693024C= | CA2406870079 | A4GALT,CYB5R3 | c.-49+27773G= (n.-49+27773G=) c.928G= (p.Ala310=) | |
| 22 | g.42693024C>G | CA411810314 | A4GALT,CYB5R3 | c.-49+27773G>C (n.-49+27773G>C) c.928G>C (p.Ala310Pro) | |
| 22 | g.42693024C>T | CA411810317 | A4GALT,CYB5R3 | c.-49+27773G>A (n.-49+27773G>A) c.928G>A (p.Ala310Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693025A>C | CA411810319 | A4GALT,CYB5R3 | c.-49+27772T>G (n.-49+27772T>G) c.927T>G (p.Ser309Arg) | gnomAD v4 |
| 22 | g.42693025A>G | CA515070524 | A4GALT,CYB5R3 | c.-49+27772T>C (n.-49+27772T>C) c.927T>C (p.Ser309=) | gnomAD v4 |
| 22 | g.42693025A>T | CA411810320 | A4GALT,CYB5R3 | c.-49+27772T>A (n.-49+27772T>A) c.927T>A (p.Ser309Arg) | |
| 22 | g.42693026C>A | CA411810323 | A4GALT,CYB5R3 | c.-49+27771G>T (n.-49+27771G>T) c.926G>T (p.Ser309Ile) | |
| 22 | g.42693026C= | CA2406870080 | A4GALT,CYB5R3 | c.-49+27771G= (n.-49+27771G=) c.926G= (p.Ser309=) | |
| 22 | g.42693026C>G | CA411810324 | A4GALT,CYB5R3 | c.-49+27771G>C (n.-49+27771G>C) c.926G>C (p.Ser309Thr) | dbSNP gnomAD v4 COSMIC |
| 22 | g.42693026C>T | CA411810326 | A4GALT,CYB5R3 | c.-49+27771G>A (n.-49+27771G>A) c.926G>A (p.Ser309Asn) | gnomAD v4 |
| 22 | g.42693027T>A | CA411810330 | A4GALT,CYB5R3 | c.-49+27770A>T (n.-49+27770A>T) c.925A>T (p.Ser309Cys) | |
| 22 | g.42693027T>C | CA411810335 | A4GALT,CYB5R3 | c.-49+27770A>G (n.-49+27770A>G) c.925A>G (p.Ser309Gly) | |
| 22 | g.42693027T>G | CA411810332 | A4GALT,CYB5R3 | c.-49+27770A>C (n.-49+27770A>C) c.925A>C (p.Ser309Arg) | |
| 22 | g.42693028G>A | CA515070525 | A4GALT,CYB5R3 | c.-49+27769C>T (n.-49+27769C>T) c.924C>T (p.Leu308=) | gnomAD v4 COSMIC |
| 22 | g.42693028G>C | CA515070526 | A4GALT,CYB5R3 | c.-49+27769C>G (n.-49+27769C>G) c.924C>G (p.Leu308=) | |
| 22 | g.42693028G>T | CA515070527 | A4GALT,CYB5R3 | c.-49+27769C>A (n.-49+27769C>A) c.924C>A (p.Leu308=) | |
| 22 | g.42693029A= | CA2406870081 | A4GALT,CYB5R3 | c.-49+27768T= (n.-49+27768T=) c.923T= (p.Leu308=) | |
| 22 | g.42693029A>C | CA411810338 | A4GALT,CYB5R3 | c.-49+27768T>G (n.-49+27768T>G) c.923T>G (p.Leu308Arg) | |
| 22 | g.42693029A>G | CA411810341 | A4GALT,CYB5R3 | c.-49+27768T>C (n.-49+27768T>C) c.923T>C (p.Leu308Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693029A>T | CA411810342 | A4GALT,CYB5R3 | c.-49+27768T>A (n.-49+27768T>A) c.923T>A (p.Leu308His) | |
| 22 | g.42693030G>A | CA411810343 | A4GALT,CYB5R3 | c.-49+27767C>T (n.-49+27767C>T) c.922C>T (p.Leu308Phe) | |
| 22 | g.42693030G>C | CA411810344 | A4GALT,CYB5R3 | c.-49+27767C>G (n.-49+27767C>G) c.922C>G (p.Leu308Val) | |
| 22 | g.42693030G>T | CA411810345 | A4GALT,CYB5R3 | c.-49+27767C>A (n.-49+27767C>A) c.922C>A (p.Leu308Ile) | |
| 22 | g.42693031C>A | CA515070528 | A4GALT,CYB5R3 | c.-49+27766G>T (n.-49+27766G>T) c.921G>T (p.Leu307=) | |
| 22 | g.42693031C>G | CA515070529 | A4GALT,CYB5R3 | c.-49+27766G>C (n.-49+27766G>C) c.921G>C (p.Leu307=) | gnomAD v4 |
| 22 | g.42693031C>T | CA515070530 | A4GALT,CYB5R3 | c.-49+27766G>A (n.-49+27766G>A) c.921G>A (p.Leu307=) | gnomAD v4 |
| 22 | g.42693032A= | CA2406870082 | A4GALT,CYB5R3 | c.-49+27765T= (n.-49+27765T=) c.920T= (p.Leu307=) | |
| 22 | g.42693032A>C | CA411810346 | A4GALT,CYB5R3 | c.-49+27765T>G (n.-49+27765T>G) c.920T>G (p.Leu307Arg) | |
| 22 | g.42693032A>G | CA10270182 | A4GALT,CYB5R3 | c.-49+27765T>C (n.-49+27765T>C) c.920T>C (p.Leu307Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693032A>T | CA411810347 | A4GALT,CYB5R3 | c.-49+27765T>A (n.-49+27765T>A) c.920T>A (p.Leu307Gln) | |
| 22 | g.42693033G>A | CA515070531 | A4GALT,CYB5R3 | c.-49+27764C>T (n.-49+27764C>T) c.919C>T (p.Leu307=) | |
| 22 | g.42693033G>C | CA411810348 | A4GALT,CYB5R3 | c.-49+27764C>G (n.-49+27764C>G) c.919C>G (p.Leu307Val) | |
| 22 | g.42693033G>T | CA411810349 | A4GALT,CYB5R3 | c.-49+27764C>A (n.-49+27764C>A) c.919C>A (p.Leu307Met) | |
| 22 | g.42693034C>A | CA515070532 | A4GALT,CYB5R3 | c.-49+27763G>T (n.-49+27763G>T) c.918G>T (p.Arg306=) | |
| 22 | g.42693034C= | CA2406870083 | A4GALT,CYB5R3 | c.-49+27763G= (n.-49+27763G=) c.918G= (p.Arg306=) | |
| 22 | g.42693034C>G | CA515070533 | A4GALT,CYB5R3 | c.-49+27763G>C (n.-49+27763G>C) c.918G>C (p.Arg306=) | |
| 22 | g.42693034C>T | CA515070534 | A4GALT,CYB5R3 | c.-49+27763G>A (n.-49+27763G>A) c.918G>A (p.Arg306=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693035C>A | CA411810350 | A4GALT,CYB5R3 | c.-49+27762G>T (n.-49+27762G>T) c.917G>T (p.Arg306Leu) | |
| 22 | g.42693035C= | CA2406870084 | A4GALT,CYB5R3 | c.-49+27762G= (n.-49+27762G=) c.917G= (p.Arg306=) | |
| 22 | g.42693035C>G | CA411810351 | A4GALT,CYB5R3 | c.-49+27762G>C (n.-49+27762G>C) c.917G>C (p.Arg306Pro) | |
| 22 | g.42693035C>T | CA411810352 | A4GALT,CYB5R3 | c.-49+27762G>A (n.-49+27762G>A) c.917G>A (p.Arg306Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693036G>A | CA10270183 | A4GALT,CYB5R3 | c.-49+27761C>T (n.-49+27761C>T) c.916C>T (p.Arg306Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693036G>C | CA411810353 | A4GALT,CYB5R3 | c.-49+27761C>G (n.-49+27761C>G) c.916C>G (p.Arg306Gly) | |
| 22 | g.42693036G= | CA2406870085 | A4GALT,CYB5R3 | c.-49+27761C= (n.-49+27761C=) c.916C= (p.Arg306=) | |
| 22 | g.42693036G>T | CA515070535 | A4GALT,CYB5R3 | c.-49+27761C>A (n.-49+27761C>A) c.916C>A (p.Arg306=) | |
| 22 | g.42693037C>A | CA515070536 | A4GALT,CYB5R3 | c.-49+27760G>T (n.-49+27760G>T) c.915G>T (p.Pro305=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693037C= | CA2406870086 | A4GALT,CYB5R3 | c.-49+27760G= (n.-49+27760G=) c.915G= (p.Pro305=) | |
| 22 | g.42693037C>G | CA515070537 | A4GALT,CYB5R3 | c.-49+27760G>C (n.-49+27760G>C) c.915G>C (p.Pro305=) | dbSNP gnomAD v4 |
| 22 | g.42693037C>T | CA10270184 | A4GALT,CYB5R3 | c.-49+27760G>A (n.-49+27760G>A) c.915G>A (p.Pro305=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693038G>A | CA10270185 | A4GALT,CYB5R3 | c.-49+27759C>T (n.-49+27759C>T) c.914C>T (p.Pro305Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693038G>C | CA411810354 | A4GALT,CYB5R3 | c.-49+27759C>G (n.-49+27759C>G) c.914C>G (p.Pro305Arg) | gnomAD v4 |
| 22 | g.42693038G= | CA2406870087 | A4GALT,CYB5R3 | c.-49+27759C= (n.-49+27759C=) c.914C= (p.Pro305=) | |
| 22 | g.42693038G>T | CA411810355 | A4GALT,CYB5R3 | c.-49+27759C>A (n.-49+27759C>A) c.914C>A (p.Pro305Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693039G>A | CA411810356 | A4GALT,CYB5R3 | c.-49+27758C>T (n.-49+27758C>T) c.913C>T (p.Pro305Ser) | |
| 22 | g.42693039G>C | CA411810357 | A4GALT,CYB5R3 | c.-49+27758C>G (n.-49+27758C>G) c.913C>G (p.Pro305Ala) | gnomAD v4 |
| 22 | g.42693039G>T | CA411810358 | A4GALT,CYB5R3 | c.-49+27758C>A (n.-49+27758C>A) c.913C>A (p.Pro305Thr) | |
| 22 | g.42693040C>A | CA515070538 | A4GALT,CYB5R3 | c.-49+27757G>T (n.-49+27757G>T) c.912G>T (p.Leu304=) | |
| 22 | g.42693040C>G | CA515070540 | A4GALT,CYB5R3 | c.-49+27757G>C (n.-49+27757G>C) c.912G>C (p.Leu304=) | |
| 22 | g.42693040C>T | CA515070539 | A4GALT,CYB5R3 | c.-49+27757G>A (n.-49+27757G>A) c.912G>A (p.Leu304=) | |
| 22 | g.42693041A>C | CA411810359 | A4GALT,CYB5R3 | c.-49+27756T>G (n.-49+27756T>G) c.911T>G (p.Leu304Arg) | |
| 22 | g.42693041A>G | CA411810360 | A4GALT,CYB5R3 | c.-49+27756T>C (n.-49+27756T>C) c.911T>C (p.Leu304Pro) | |
| 22 | g.42693041A>T | CA411810361 | A4GALT,CYB5R3 | c.-49+27756T>A (n.-49+27756T>A) c.911T>A (p.Leu304Gln) | |
| 22 | g.42693042G>A | CA515070541 | A4GALT,CYB5R3 | c.-49+27755C>T (n.-49+27755C>T) c.910C>T (p.Leu304=) | |
| 22 | g.42693042G>C | CA411810362 | A4GALT,CYB5R3 | c.-49+27755C>G (n.-49+27755C>G) c.910C>G (p.Leu304Val) | |
| 22 | g.42693042G= | CA2406870088 | A4GALT,CYB5R3 | c.-49+27755C= (n.-49+27755C=) c.910C= (p.Leu304=) | |
| 22 | g.42693042G>T | CA10270186 | A4GALT,CYB5R3 | c.-49+27755C>A (n.-49+27755C>A) c.910C>A (p.Leu304Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |