| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7580019C>A | CA362684944 | DSP | c.3829C>A (p.Gln1277Lys) c.3582+247C>A (n.3582+247C>A) | |
| 6 | g.7580019C= | CA1608615568 | DSP | c.3829C= (p.Gln1277=) c.3582+247C= (n.3582+247C=) | |
| 6 | g.7580019C>G | CA362684945 | DSP | c.3829C>G (p.Gln1277Glu) c.3582+247C>G (n.3582+247C>G) | |
| 6 | g.7580019C>T | CA004272 | DSP | c.3829C>T (p.Gln1277Ter) c.3582+247C>T (n.3582+247C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580020A= | CA1608615575 | DSP | c.3830A= (p.Gln1277=) c.3582+248A= (n.3582+248A=) | |
| 6 | g.7580020A>C | CA362684946 | DSP | c.3830A>C (p.Gln1277Pro) c.3582+248A>C (n.3582+248A>C) | |
| 6 | g.7580020A>G | CA362684947 | DSP | c.3830A>G (p.Gln1277Arg) c.3582+248A>G (n.3582+248A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580020A>T | CA362684948 | DSP | c.3830A>T (p.Gln1277Leu) c.3582+248A>T (n.3582+248A>T) | |
| 6 | g.7580021A= | CA1608615588 | DSP | c.3831A= (p.Gln1277=) c.3582+249A= (n.3582+249A=) | |
| 6 | g.7580021A>C | CA362684950 | DSP | c.3831A>C (p.Gln1277His) c.3582+249A>C (n.3582+249A>C) | |
| 6 | g.7580021A>G | CA039151 | DSP | c.3831A>G (p.Gln1277=) c.3582+249A>G (n.3582+249A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7580021A>T | CA362684949 | DSP | c.3831A>T (p.Gln1277His) c.3582+249A>T (n.3582+249A>T) | |
| 6 | g.7580022A>C | CA362684951 | DSP | c.3832A>C (p.Lys1278Gln) c.3582+250A>C (n.3582+250A>C) | |
| 6 | g.7580022A>G | CA362684952 | DSP | c.3832A>G (p.Lys1278Glu) c.3582+250A>G (n.3582+250A>G) | gnomAD v4 |
| 6 | g.7580022A>T | CA362684953 | DSP | c.3832A>T (p.Lys1278Ter) c.3582+250A>T (n.3582+250A>T) | |
| 6 | g.7580023A>C | CA362684954 | DSP | c.3833A>C (p.Lys1278Thr) c.3582+251A>C (n.3582+251A>C) | |
| 6 | g.7580023A>G | CA362684955 | DSP | c.3833A>G (p.Lys1278Arg) c.3582+251A>G (n.3582+251A>G) | |
| 6 | g.7580023A>T | CA362684956 | DSP | c.3833A>T (p.Lys1278Met) c.3582+251A>T (n.3582+251A>T) | |
| 6 | g.7580024G>A | CA448715166 | DSP | c.3834G>A (p.Lys1278=) c.3582+252G>A (n.3582+252G>A) | gnomAD v4 |
| 6 | g.7580024G>C | CA362684957 | DSP | c.3834G>C (p.Lys1278Asn) c.3582+252G>C (n.3582+252G>C) | |
| 6 | g.7580024G>T | CA362684958 | DSP | c.3834G>T (p.Lys1278Asn) c.3582+252G>T (n.3582+252G>T) | gnomAD v3 gnomAD v4 |
| 6 | g.7580025G>A | CA039160 | DSP | c.3835G>A (p.Ala1279Thr) c.3582+253G>A (n.3582+253G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580025G>C | CA362684959 | DSP | c.3835G>C (p.Ala1279Pro) c.3582+253G>C (n.3582+253G>C) | |
| 6 | g.7580025G= | CA1608615594 | DSP | c.3835G= (p.Ala1279=) c.3582+253G= (n.3582+253G=) | |
| 6 | g.7580025G>T | CA362684960 | DSP | c.3835G>T (p.Ala1279Ser) c.3582+253G>T (n.3582+253G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580026C>A | CA362684961 | DSP | c.3836C>A (p.Ala1279Asp) c.3582+254C>A (n.3582+254C>A) | |
| 6 | g.7580026C= | CA1608615601 | DSP | c.3836C= (p.Ala1279=) c.3582+254C= (n.3582+254C=) | |
| 6 | g.7580026C>G | CA362684962 | DSP | c.3836C>G (p.Ala1279Gly) c.3582+254C>G (n.3582+254C>G) | |
| 6 | g.7580026C>T | CA039173 | DSP | c.3836C>T (p.Ala1279Val) c.3582+254C>T (n.3582+254C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580027C>A | CA448715178 | DSP | c.3837C>A (p.Ala1279=) c.3582+255C>A (n.3582+255C>A) | |
| 6 | g.7580027C>G | CA448715182 | DSP | c.3837C>G (p.Ala1279=) c.3582+255C>G (n.3582+255C>G) | |
| 6 | g.7580027C>T | CA448715183 | DSP | c.3837C>T (p.Ala1279=) c.3582+255C>T (n.3582+255C>T) | COSMIC |
| 6 | g.7580028T>A | CA362684965 | DSP | c.3838T>A (p.Cys1280Ser) c.3582+256T>A (n.3582+256T>A) | |
| 6 | g.7580028T>C | CA362684964 | DSP | c.3838T>C (p.Cys1280Arg) c.3582+256T>C (n.3582+256T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7580028T>G | CA362684963 | DSP | c.3838T>G (p.Cys1280Gly) c.3582+256T>G (n.3582+256T>G) | |
| 6 | g.7580028T= | CA1608615615 | DSP | c.3838T= (p.Cys1280=) c.3582+256T= (n.3582+256T=) | |
| 6 | g.7580029G>A | CA362684966 | DSP | c.3839G>A (p.Cys1280Tyr) c.3582+257G>A (n.3582+257G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580029G>C | CA362684967 | DSP | c.3839G>C (p.Cys1280Ser) c.3582+257G>C (n.3582+257G>C) | |
| 6 | g.7580029G= | CA1608615619 | DSP | c.3839G= (p.Cys1280=) c.3582+257G= (n.3582+257G=) | |
| 6 | g.7580029G>T | CA362684968 | DSP | c.3839G>T (p.Cys1280Phe) c.3582+257G>T (n.3582+257G>T) | |
| 6 | g.7580030T>A | CA362684969 | DSP | c.3840T>A (p.Cys1280Ter) c.3582+258T>A (n.3582+258T>A) | |
| 6 | g.7580030T>C | CA448715190 | DSP | c.3840T>C (p.Cys1280=) c.3582+258T>C (n.3582+258T>C) | |
| 6 | g.7580030T>G | CA362684970 | DSP | c.3840T>G (p.Cys1280Trp) c.3582+258T>G (n.3582+258T>G) | |
| 6 | g.7580031G>A | CA362684971 | DSP | c.3841G>A (p.Gly1281Ser) c.3582+259G>A (n.3582+259G>A) | |
| 6 | g.7580031G>C | CA362684972 | DSP | c.3841G>C (p.Gly1281Arg) c.3582+259G>C (n.3582+259G>C) | |
| 6 | g.7580031G>T | CA362684973 | DSP | c.3841G>T (p.Gly1281Cys) c.3582+259G>T (n.3582+259G>T) | |
| 6 | g.7580032G>A | CA362684974 | DSP | c.3842G>A (p.Gly1281Asp) c.3582+260G>A (n.3582+260G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580032G>C | CA039191 | DSP | c.3842G>C (p.Gly1281Ala) c.3582+260G>C (n.3582+260G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580032G= | CA1608615621 | DSP | c.3842G= (p.Gly1281=) c.3582+260G= (n.3582+260G=) | |
| 6 | g.7580032G>T | CA362684975 | DSP | c.3842G>T (p.Gly1281Val) c.3582+260G>T (n.3582+260G>T) |