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 |
|---|---|---|---|---|---|
| 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) | |
| 6 | g.7580033C>A | CA448715196 | DSP | c.3843C>A (p.Gly1281=) c.3582+261C>A (n.3582+261C>A) | gnomAD v4 |
| 6 | g.7580033C= | CA1608615629 | DSP | c.3843C= (p.Gly1281=) c.3582+261C= (n.3582+261C=) | |
| 6 | g.7580033C>G | CA448715195 | DSP | c.3843C>G (p.Gly1281=) c.3582+261C>G (n.3582+261C>G) | gnomAD v4 |
| 6 | g.7580033C>T | CA16605147 | DSP | c.3843C>T (p.Gly1281=) c.3582+261C>T (n.3582+261C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580034T>A | CA362684976 | DSP | c.3844T>A (p.Ser1282Thr) c.3582+262T>A (n.3582+262T>A) | |
| 6 | g.7580034T>C | CA362684977 | DSP | c.3844T>C (p.Ser1282Pro) c.3582+262T>C (n.3582+262T>C) | |
| 6 | g.7580034T>G | CA362684978 | DSP | c.3844T>G (p.Ser1282Ala) c.3582+262T>G (n.3582+262T>G) | |
| 6 | g.7580035C>A | CA362684979 | DSP | c.3845C>A (p.Ser1282Tyr) c.3582+263C>A (n.3582+263C>A) | |
| 6 | g.7580035C= | CA1608615638 | DSP | c.3845C= (p.Ser1282=) c.3582+263C= (n.3582+263C=) | |
| 6 | g.7580035C>G | CA039211 | DSP | c.3845C>G (p.Ser1282Cys) c.3582+263C>G (n.3582+263C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580035C>T | CA16612202 | DSP | c.3845C>T (p.Ser1282Phe) c.3582+263C>T (n.3582+263C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580036T>A | CA448715202 | DSP | c.3846T>A (p.Ser1282=) c.3582+264T>A (n.3582+264T>A) | |
| 6 | g.7580036T>C | CA448715206 | DSP | c.3846T>C (p.Ser1282=) c.3582+264T>C (n.3582+264T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580036T>G | CA448715209 | DSP | c.3846T>G (p.Ser1282=) c.3582+264T>G (n.3582+264T>G) | |
| 6 | g.7580037G>A | CA362684980 | DSP | c.3847G>A (p.Glu1283Lys) c.3582+265G>A (n.3582+265G>A) | gnomAD v4 |
| 6 | g.7580037G>C | CA362684981 | DSP | c.3847G>C (p.Glu1283Gln) c.3582+265G>C (n.3582+265G>C) | |
| 6 | g.7580037G>T | CA362684982 | DSP | c.3847G>T (p.Glu1283Ter) c.3582+265G>T (n.3582+265G>T) | |
| 6 | g.7580038A= | CA1608615646 | DSP | c.3848A= (p.Glu1283=) c.3582+266A= (n.3582+266A=) | |
| 6 | g.7580038A>C | CA039231 | DSP | c.3848A>C (p.Glu1283Ala) c.3582+266A>C (n.3582+266A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580038A>G | CA362684983 | DSP | c.3848A>G (p.Glu1283Gly) c.3582+266A>G (n.3582+266A>G) | |
| 6 | g.7580038A>T | CA362684984 | DSP | c.3848A>T (p.Glu1283Val) c.3582+266A>T (n.3582+266A>T) | |
| 6 | g.7580039G>A | CA448715224 | DSP | c.3849G>A (p.Glu1283=) c.3582+267G>A (n.3582+267G>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580039G>C | CA362684985 | DSP | c.3849G>C (p.Glu1283Asp) c.3582+267G>C (n.3582+267G>C) | |
| 6 | g.7580039G>T | CA362684986 | DSP | c.3849G>T (p.Glu1283Asp) c.3582+267G>T (n.3582+267G>T) | |
| 6 | g.7580040del | CA2580075405 | DSP | c.3850del (p.Ile1284Ter) c.3582+268del (n.3582+268del) | ClinVar |
| 6 | g.7580040A>C | CA362684987 | DSP | c.3850A>C (p.Ile1284Leu) c.3582+268A>C (n.3582+268A>C) | |
| 6 | g.7580040A>G | CA362684988 | DSP | c.3850A>G (p.Ile1284Val) c.3582+268A>G (n.3582+268A>G) | |
| 6 | g.7580040A>T | CA362684989 | DSP | c.3850A>T (p.Ile1284Leu) c.3582+268A>T (n.3582+268A>T) | |
| 6 | g.7580041T>A | CA362684990 | DSP | c.3851T>A (p.Ile1284Lys) c.3582+269T>A (n.3582+269T>A) | |
| 6 | g.7580041T>C | CA362684992 | DSP | c.3851T>C (p.Ile1284Thr) c.3582+269T>C (n.3582+269T>C) | gnomAD v4 |
| 6 | g.7580041T>G | CA362684991 | DSP | c.3851T>G (p.Ile1284Arg) c.3582+269T>G (n.3582+269T>G) | |
| 6 | g.7580042A>C | CA448715229 | DSP | c.3852A>C (p.Ile1284=) c.3582+270A>C (n.3582+270A>C) | |
| 6 | g.7580042A>G | CA362684993 | DSP | c.3852A>G (p.Ile1284Met) c.3582+270A>G (n.3582+270A>G) | |
| 6 | g.7580042A>T | CA448715231 | DSP | c.3852A>T (p.Ile1284=) c.3582+270A>T (n.3582+270A>T) | |
| 6 | g.7580043A>C | CA362684994 | DSP | c.3853A>C (p.Met1285Leu) c.3582+271A>C (n.3582+271A>C) | |
| 6 | g.7580043A>G | CA362684995 | DSP | c.3853A>G (p.Met1285Val) c.3582+271A>G (n.3582+271A>G) | |
| 6 | g.7580043A>T | CA362684996 | DSP | c.3853A>T (p.Met1285Leu) c.3582+271A>T (n.3582+271A>T) | |
| 6 | g.7580044T>A | CA362684997 | DSP | c.3854T>A (p.Met1285Lys) c.3582+272T>A (n.3582+272T>A) | |
| 6 | g.7580044T>C | CA362684998 | DSP | c.3854T>C (p.Met1285Thr) c.3582+272T>C (n.3582+272T>C) | |
| 6 | g.7580044T>G | CA362684999 | DSP | c.3854T>G (p.Met1285Arg) c.3582+272T>G (n.3582+272T>G) | ClinVar dbSNP |
| 6 | g.7580044T= | CA1608615651 | DSP | c.3854T= (p.Met1285=) c.3582+272T= (n.3582+272T=) | |
| 6 | g.7580045G>A | CA362685000 | DSP | c.3855G>A (p.Met1285Ile) c.3582+273G>A (n.3582+273G>A) | |
| 6 | g.7580045G>C | CA362685001 | DSP | c.3855G>C (p.Met1285Ile) c.3582+273G>C (n.3582+273G>C) | |
| 6 | g.7580045G>T | CA362685002 | DSP | c.3855G>T (p.Met1285Ile) c.3582+273G>T (n.3582+273G>T) | |
| 6 | g.7580046C>A | CA362685003 | DSP | c.3856C>A (p.Gln1286Lys) c.3582+274C>A (n.3582+274C>A) | |
| 6 | g.7580046C>G | CA362685004 | DSP | c.3856C>G (p.Gln1286Glu) c.3582+274C>G (n.3582+274C>G) | |
| 6 | g.7580046C>T | CA362685005 | DSP | c.3856C>T (p.Gln1286Ter) c.3582+274C>T (n.3582+274C>T) | ClinVar |
| 6 | g.7580046_7580049delinsCAGA | CA1608615659 | DSP | c.3856_3859delinsCAGA (p.Gln1286=) c.3582+274_3582+277delinsCAGA (n.3582+274_3582+277delinsCAGA) | |
| 6 | g.7580047A>C | CA362685008 | DSP | c.3857A>C (p.Gln1286Pro) c.3582+275A>C (n.3582+275A>C) | |
| 6 | g.7580047A>G | CA362685007 | DSP | c.3857A>G (p.Gln1286Arg) c.3582+275A>G (n.3582+275A>G) | |
| 6 | g.7580047A>T | CA362685006 | DSP | c.3857A>T (p.Gln1286Leu) c.3582+275A>T (n.3582+275A>T) | COSMIC |
| 6 | g.7580052_7580054del | CA039247 | DSP | c.3862_3864del (p.Lys1288del) c.3582+280_3582+282del (n.3582+280_3582+282del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580048G>A | CA448715237 | DSP | c.3858G>A (p.Gln1286=) c.3582+276G>A (n.3582+276G>A) | |
| 6 | g.7580048G>C | CA362685009 | DSP | c.3858G>C (p.Gln1286His) c.3582+276G>C (n.3582+276G>C) | |
| 6 | g.7580048G>T | CA362685010 | DSP | c.3858G>T (p.Gln1286His) c.3582+276G>T (n.3582+276G>T) | |
| 6 | g.7580048_7580049insGG | CA2580075406 | DSP | c.3858_3859insGG (p.Lys1287GlyfsTer8) c.3582+276_3582+277insGG (n.3582+276_3582+277insGG) | ClinVar |
| 6 | g.7580049A>C | CA362685011 | DSP | c.3859A>C (p.Lys1287Gln) c.3582+277A>C (n.3582+277A>C) | |
| 6 | g.7580049A>G | CA362685012 | DSP | c.3859A>G (p.Lys1287Glu) c.3582+277A>G (n.3582+277A>G) | gnomAD v4 |
| 6 | g.7580049A>T | CA362685013 | DSP | c.3859A>T (p.Lys1287Ter) c.3582+277A>T (n.3582+277A>T) | |
| 6 | g.7580050A>C | CA362685016 | DSP | c.3860A>C (p.Lys1287Thr) c.3582+278A>C (n.3582+278A>C) | |
| 6 | g.7580050A>G | CA362685014 | DSP | c.3860A>G (p.Lys1287Arg) c.3582+278A>G (n.3582+278A>G) | |
| 6 | g.7580050A>T | CA362685015 | DSP | c.3860A>T (p.Lys1287Met) c.3582+278A>T (n.3582+278A>T) | |
| 6 | g.7580051del | CA2740090878 | DSP | c.3861del (p.Lys1288SerfsTer6) c.3582+279del (n.3582+279del) | ClinVar |
| 6 | g.7580051G>A | CA448715248 | DSP | c.3861G>A (p.Lys1287=) c.3582+279G>A (n.3582+279G>A) | |
| 6 | g.7580051G>C | CA362685017 | DSP | c.3861G>C (p.Lys1287Asn) c.3582+279G>C (n.3582+279G>C) | |
| 6 | g.7580051G>T | CA362685018 | DSP | c.3861G>T (p.Lys1287Asn) c.3582+279G>T (n.3582+279G>T) | |
| 6 | g.7580052A= | CA1608615667 | DSP | c.3862A= (p.Lys1288=) c.3582+280A= (n.3582+280A=) | |
| 6 | g.7580052A>C | CA004279 | DSP | c.3862A>C (p.Lys1288Gln) c.3582+280A>C (n.3582+280A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580052A>G | CA362685019 | DSP | c.3862A>G (p.Lys1288Glu) c.3582+280A>G (n.3582+280A>G) | |
| 6 | g.7580052A>T | CA039292 | DSP | c.3862A>T (p.Lys1288Ter) c.3582+280A>T (n.3582+280A>T) | dbSNP ExAC gnomAD v2 |
| 6 | g.7580053A= | CA1608615676 | DSP | c.3863A= (p.Lys1288=) c.3582+281A= (n.3582+281A=) | |
| 6 | g.7580053A>C | CA362685020 | DSP | c.3863A>C (p.Lys1288Thr) c.3582+281A>C (n.3582+281A>C) | COSMIC |
| 6 | g.7580053A>G | CA039305 | DSP | c.3863A>G (p.Lys1288Arg) c.3582+281A>G (n.3582+281A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580053A>T | CA362685021 | DSP | c.3863A>T (p.Lys1288Met) c.3582+281A>T (n.3582+281A>T) | |
| 6 | g.7580054G>A | CA039327 | DSP | c.3864G>A (p.Lys1288=) c.3582+282G>A (n.3582+282G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580054G>C | CA362685022 | DSP | c.3864G>C (p.Lys1288Asn) c.3582+282G>C (n.3582+282G>C) | |
| 6 | g.7580054G= | CA1608615686 | DSP | c.3864G= (p.Lys1288=) c.3582+282G= (n.3582+282G=) | |
| 6 | g.7580054G>T | CA133968942 | DSP | c.3864G>T (p.Lys1288Asn) c.3582+282G>T (n.3582+282G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7580055C>A | CA362685023 | DSP | c.3865C>A (p.Gln1289Lys) c.3582+283C>A (n.3582+283C>A) | gnomAD v4 |
| 6 | g.7580055C= | CA1608615692 | DSP | c.3865C= (p.Gln1289=) c.3582+283C= (n.3582+283C=) | |
| 6 | g.7580055C>G | CA362685024 | DSP | c.3865C>G (p.Gln1289Glu) c.3582+283C>G (n.3582+283C>G) | |
| 6 | g.7580055C>T | CA039350 | DSP | c.3865C>T (p.Gln1289Ter) c.3582+283C>T (n.3582+283C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580056A>C | CA362685025 | DSP | c.3866A>C (p.Gln1289Pro) c.3582+284A>C (n.3582+284A>C) | |
| 6 | g.7580056A>G | CA362685026 | DSP | c.3866A>G (p.Gln1289Arg) c.3582+284A>G (n.3582+284A>G) | gnomAD v4 |
| 6 | g.7580056A>T | CA362685027 | DSP | c.3866A>T (p.Gln1289Leu) c.3582+284A>T (n.3582+284A>T) | |
| 6 | g.7580057G>A | CA448715261 | DSP | c.3867G>A (p.Gln1289=) c.3582+285G>A (n.3582+285G>A) | |
| 6 | g.7580057G>C | CA362685028 | DSP | c.3867G>C (p.Gln1289His) c.3582+285G>C (n.3582+285G>C) | |
| 6 | g.7580057G>T | CA362685029 | DSP | c.3867G>T (p.Gln1289His) c.3582+285G>T (n.3582+285G>T) | |
| 6 | g.7580058C>A | CA362685032 | DSP | c.3868C>A (p.His1290Asn) c.3582+286C>A (n.3582+286C>A) | |
| 6 | g.7580058C>G | CA362685031 | DSP | c.3868C>G (p.His1290Asp) c.3582+286C>G (n.3582+286C>G) | |
| 6 | g.7580058C>T | CA362685030 | DSP | c.3868C>T (p.His1290Tyr) c.3582+286C>T (n.3582+286C>T) | |
| 6 | g.7580059A>C | CA362685033 | DSP | c.3869A>C (p.His1290Pro) c.3582+287A>C (n.3582+287A>C) | |
| 6 | g.7580059A>G | CA362685034 | DSP | c.3869A>G (p.His1290Arg) c.3582+287A>G (n.3582+287A>G) | |
| 6 | g.7580059A>T | CA362685035 | DSP | c.3869A>T (p.His1290Leu) c.3582+287A>T (n.3582+287A>T) | |
| 6 | g.7580060T>A | CA362685036 | DSP | c.3870T>A (p.His1290Gln) c.3582+288T>A (n.3582+288T>A) | |
| 6 | g.7580060T>C | CA039379 | DSP | c.3870T>C (p.His1290=) c.3582+288T>C (n.3582+288T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580060T>G | CA362685037 | DSP | c.3870T>G (p.His1290Gln) c.3582+288T>G (n.3582+288T>G) | |
| 6 | g.7580060T= | CA1608615698 | DSP | c.3870T= (p.His1290=) c.3582+288T= (n.3582+288T=) | |
| 6 | g.7580061C>A | CA362685038 | DSP | c.3871C>A (p.Leu1291Met) c.3582+289C>A (n.3582+289C>A) | |
| 6 | g.7580061C= | CA1608615704 | DSP | c.3871C= (p.Leu1291=) c.3582+289C= (n.3582+289C=) | |
| 6 | g.7580061C>G | CA362685039 | DSP | c.3871C>G (p.Leu1291Val) c.3582+289C>G (n.3582+289C>G) | |
| 6 | g.7580061C>T | CA039395 | DSP | c.3871C>T (p.Leu1291=) c.3582+289C>T (n.3582+289C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580062T>A | CA362685040 | DSP | c.3872T>A (p.Leu1291Gln) c.3582+290T>A (n.3582+290T>A) | |
| 6 | g.7580062T>C | CA362685041 | DSP | c.3872T>C (p.Leu1291Pro) c.3582+290T>C (n.3582+290T>C) | |
| 6 | g.7580062T>G | CA362685042 | DSP | c.3872T>G (p.Leu1291Arg) c.3582+290T>G (n.3582+290T>G) | |
| 6 | g.7580063G>A | CA448715272 | DSP | c.3873G>A (p.Leu1291=) c.3582+291G>A (n.3582+291G>A) | |
| 6 | g.7580063G>C | CA448715273 | DSP | c.3873G>C (p.Leu1291=) c.3582+291G>C (n.3582+291G>C) | |
| 6 | g.7580063G>T | CA448715274 | DSP | c.3873G>T (p.Leu1291=) c.3582+291G>T (n.3582+291G>T) | |
| 6 | g.7580064G>A | CA133968959 | DSP | c.3874G>A (p.Glu1292Lys) c.3582+292G>A (n.3582+292G>A) | dbSNP |
| 6 | g.7580064G>C | CA362685043 | DSP | c.3874G>C (p.Glu1292Gln) c.3582+292G>C (n.3582+292G>C) | |
| 6 | g.7580064G= | CA1608615710 | DSP | c.3874G= (p.Glu1292=) c.3582+292G= (n.3582+292G=) | |
| 6 | g.7580064G>T | CA362685044 | DSP | c.3874G>T (p.Glu1292Ter) c.3582+292G>T (n.3582+292G>T) | |
| 6 | g.7580064_7580068del | CA645551224 | DSP | c.3874_3878del (p.Glu1292ArgfsTer11) c.3582+292_3582+296del (n.3582+292_3582+296del) | COSMIC |
| 6 | g.7580065A>C | CA362685045 | DSP | c.3875A>C (p.Glu1292Ala) c.3582+293A>C (n.3582+293A>C) | |
| 6 | g.7580065A>G | CA362685047 | DSP | c.3875A>G (p.Glu1292Gly) c.3582+293A>G (n.3582+293A>G) | |
| 6 | g.7580065A>T | CA362685046 | DSP | c.3875A>T (p.Glu1292Val) c.3582+293A>T (n.3582+293A>T) | |
| 6 | g.7580066G>A | CA448715277 | DSP | c.3876G>A (p.Glu1292=) c.3582+294G>A (n.3582+294G>A) | |
| 6 | g.7580066G>C | CA362685048 | DSP | c.3876G>C (p.Glu1292Asp) c.3582+294G>C (n.3582+294G>C) | |
| 6 | g.7580066G>T | CA362685049 | DSP | c.3876G>T (p.Glu1292Asp) c.3582+294G>T (n.3582+294G>T) | |
| 6 | g.7580067A= | CA1608615716 | DSP | c.3877A= (p.Ile1293=) c.3582+295A= (n.3582+295A=) | |
| 6 | g.7580067A>C | CA362685050 | DSP | c.3877A>C (p.Ile1293Leu) c.3582+295A>C (n.3582+295A>C) | |
| 6 | g.7580067A>G | CA039408 | DSP | c.3877A>G (p.Ile1293Val) c.3582+295A>G (n.3582+295A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580067A>T | CA362685051 | DSP | c.3877A>T (p.Ile1293Leu) c.3582+295A>T (n.3582+295A>T) | |
| 6 | g.7580068T>A | CA362685052 | DSP | c.3878T>A (p.Ile1293Lys) c.3582+296T>A (n.3582+296T>A) | |
| 6 | g.7580068T>C | CA039424 | DSP | c.3878T>C (p.Ile1293Thr) c.3582+296T>C (n.3582+296T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580068T>G | CA362685053 | DSP | c.3878T>G (p.Ile1293Arg) c.3582+296T>G (n.3582+296T>G) | |
| 6 | g.7580068T= | CA1608615727 | DSP | c.3878T= (p.Ile1293=) c.3582+296T= (n.3582+296T=) | |
| 6 | g.7580069A= | CA1608615731 | DSP | c.3879A= (p.Ile1293=) c.3582+297A= (n.3582+297A=) | |
| 6 | g.7580069A>C | CA448715280 | DSP | c.3879A>C (p.Ile1293=) c.3582+297A>C (n.3582+297A>C) | |
| 6 | g.7580069A>G | CA039437 | DSP | c.3879A>G (p.Ile1293Met) c.3582+297A>G (n.3582+297A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.7580069A>T | CA448715281 | DSP | c.3879A>T (p.Ile1293=) c.3582+297A>T (n.3582+297A>T) | |
| 6 | g.7580070G>A | CA362685054 | DSP | c.3880G>A (p.Glu1294Lys) c.3582+298G>A (n.3582+298G>A) | ClinVar |
| 6 | g.7580070G>C | CA362685055 | DSP | c.3880G>C (p.Glu1294Gln) c.3582+298G>C (n.3582+298G>C) | |
| 6 | g.7580070G>T | CA362685056 | DSP | c.3880G>T (p.Glu1294Ter) c.3582+298G>T (n.3582+298G>T) | |
| 6 | g.7580071A>C | CA362685059 | DSP | c.3881A>C (p.Glu1294Ala) c.3582+299A>C (n.3582+299A>C) | |
| 6 | g.7580071A>G | CA362685058 | DSP | c.3881A>G (p.Glu1294Gly) c.3582+299A>G (n.3582+299A>G) | |
| 6 | g.7580071A>T | CA362685057 | DSP | c.3881A>T (p.Glu1294Val) c.3582+299A>T (n.3582+299A>T) | |
| 6 | g.7580072A>C | CA362685060 | DSP | c.3882A>C (p.Glu1294Asp) c.3582+300A>C (n.3582+300A>C) | |
| 6 | g.7580072A>G | CA448715287 | DSP | c.3882A>G (p.Glu1294=) c.3582+300A>G (n.3582+300A>G) | |
| 6 | g.7580072A>T | CA362685061 | DSP | c.3882A>T (p.Glu1294Asp) c.3582+300A>T (n.3582+300A>T) | |
| 6 | g.7580073C>A | CA362685062 | DSP | c.3883C>A (p.Leu1295Met) c.3582+301C>A (n.3582+301C>A) | |
| 6 | g.7580073C>G | CA362685063 | DSP | c.3883C>G (p.Leu1295Val) c.3582+301C>G (n.3582+301C>G) | |
| 6 | g.7580073C>T | CA448715290 | DSP | c.3883C>T (p.Leu1295=) c.3582+301C>T (n.3582+301C>T) | |
| 6 | g.7580074T>A | CA362685064 | DSP | c.3884T>A (p.Leu1295Gln) c.3582+302T>A (n.3582+302T>A) | |
| 6 | g.7580074T>C | CA362685065 | DSP | c.3884T>C (p.Leu1295Pro) c.3582+302T>C (n.3582+302T>C) | |
| 6 | g.7580074T>G | CA362685066 | DSP | c.3884T>G (p.Leu1295Arg) c.3582+302T>G (n.3582+302T>G) | |
| 6 | g.7580075G>A | CA133968977 | DSP | c.3885G>A (p.Leu1295=) c.3582+303G>A (n.3582+303G>A) | dbSNP |
| 6 | g.7580075G>C | CA448715294 | DSP | c.3885G>C (p.Leu1295=) c.3582+303G>C (n.3582+303G>C) | |
| 6 | g.7580075G= | CA1608615735 | DSP | c.3885G= (p.Leu1295=) c.3582+303G= (n.3582+303G=) | |
| 6 | g.7580075G>T | CA448715295 | DSP | c.3885G>T (p.Leu1295=) c.3582+303G>T (n.3582+303G>T) | |
| 6 | g.7580076A>C | CA362685067 | DSP | c.3886A>C (p.Lys1296Gln) c.3582+304A>C (n.3582+304A>C) | |
| 6 | g.7580076A>G | CA362685068 | DSP | c.3886A>G (p.Lys1296Glu) c.3582+304A>G (n.3582+304A>G) | |
| 6 | g.7580076A>T | CA362685069 | DSP | c.3886A>T (p.Lys1296Ter) c.3582+304A>T (n.3582+304A>T) | |
| 6 | g.7580076_7580088delinsAAGCAGGTCATGC | CA1608615737 | DSP | c.3886_3898delinsAAGCAGGTCATGC (p.Lys1296=) c.3582+304_3582+316delinsAAGCAGGTCATGC (n.3582+304_3582+316delinsAAGCAGGTCATGC) | |
| 6 | g.7580077A= | CA1608615741 | DSP | c.3887A= (p.Lys1296=) c.3582+305A= (n.3582+305A=) | |
| 6 | g.7580077A>C | CA362685071 | DSP | c.3887A>C (p.Lys1296Thr) c.3582+305A>C (n.3582+305A>C) | gnomAD v4 |
| 6 | g.7580077A>G | CA133968978 | DSP | c.3887A>G (p.Lys1296Arg) c.3582+305A>G (n.3582+305A>G) | dbSNP |
| 6 | g.7580077A>T | CA362685070 | DSP | c.3887A>T (p.Lys1296Met) c.3582+305A>T (n.3582+305A>T) | |
| 6 | g.7580082_7580093del | CA1608615740 | DSP | c.3892_3903del (p.Val1298_Gln1301del) c.3582+310_3582+321del (n.3582+310_3582+321del) | dbSNP |
| 6 | g.7580078G>A | CA448715299 | DSP | c.3888G>A (p.Lys1296=) c.3582+306G>A (n.3582+306G>A) | |
| 6 | g.7580078G>C | CA362685072 | DSP | c.3888G>C (p.Lys1296Asn) c.3582+306G>C (n.3582+306G>C) | |
| 6 | g.7580078G>T | CA362685073 | DSP | c.3888G>T (p.Lys1296Asn) c.3582+306G>T (n.3582+306G>T) | |
| 6 | g.7580079C>A | CA362685074 | DSP | c.3889C>A (p.Gln1297Lys) c.3582+307C>A (n.3582+307C>A) | |
| 6 | g.7580079C= | CA1608615743 | DSP | c.3889C= (p.Gln1297=) c.3582+307C= (n.3582+307C=) | |
| 6 | g.7580079C>G | CA362685075 | DSP | c.3889C>G (p.Gln1297Glu) c.3582+307C>G (n.3582+307C>G) | |
| 6 | g.7580079C>T | CA362685076 | DSP | c.3889C>T (p.Gln1297Ter) c.3582+307C>T (n.3582+307C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580080A= | CA1608615747 | DSP | c.3890A= (p.Gln1297=) c.3582+308A= (n.3582+308A=) | |
| 6 | g.7580080A>C | CA362685079 | DSP | c.3890A>C (p.Gln1297Pro) c.3582+308A>C (n.3582+308A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580080A>G | CA362685077 | DSP | c.3890A>G (p.Gln1297Arg) c.3582+308A>G (n.3582+308A>G) | |
| 6 | g.7580080A>T | CA362685078 | DSP | c.3890A>T (p.Gln1297Leu) c.3582+308A>T (n.3582+308A>T) | |
| 6 | g.7580081G>A | CA448715303 | DSP | c.3891G>A (p.Gln1297=) c.3582+309G>A (n.3582+309G>A) | |
| 6 | g.7580081G>C | CA362685080 | DSP | c.3891G>C (p.Gln1297His) c.3582+309G>C (n.3582+309G>C) | |
| 6 | g.7580081G>T | CA362685081 | DSP | c.3891G>T (p.Gln1297His) c.3582+309G>T (n.3582+309G>T) | |
| 6 | g.7580081_7580084dup | CA915944151 | DSP | c.3891_3894dup (p.Met1299GlyfsTer7) c.3582+309_3582+312dup (n.3582+309_3582+312dup) | ClinVar dbSNP |
| 6 | g.7580082G>A | CA362685082 | DSP | c.3892G>A (p.Val1298Ile) c.3582+310G>A (n.3582+310G>A) | gnomAD v4 |
| 6 | g.7580082G>C | CA362685083 | DSP | c.3892G>C (p.Val1298Leu) c.3582+310G>C (n.3582+310G>C) | |
| 6 | g.7580082G>T | CA362685084 | DSP | c.3892G>T (p.Val1298Phe) c.3582+310G>T (n.3582+310G>T) | |
| 6 | g.7580083T>A | CA362685085 | DSP | c.3893T>A (p.Val1298Asp) c.3582+311T>A (n.3582+311T>A) | |
| 6 | g.7580083T>C | CA362685087 | DSP | c.3893T>C (p.Val1298Ala) c.3582+311T>C (n.3582+311T>C) | gnomAD v4 |
| 6 | g.7580083T>G | CA362685086 | DSP | c.3893T>G (p.Val1298Gly) c.3582+311T>G (n.3582+311T>G) | |
| 6 | g.7580084C>A | CA448715305 | DSP | c.3894C>A (p.Val1298=) c.3582+312C>A (n.3582+312C>A) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580084C= | CA1608615757 | DSP | c.3894C= (p.Val1298=) c.3582+312C= (n.3582+312C=) | |
| 6 | g.7580084C>G | CA448715306 | DSP | c.3894C>G (p.Val1298=) c.3582+312C>G (n.3582+312C>G) | |
| 6 | g.7580084C>T | CA448715307 | DSP | c.3894C>T (p.Val1298=) c.3582+312C>T (n.3582+312C>T) | |
| 6 | g.7580085A>C | CA362685088 | DSP | c.3895A>C (p.Met1299Leu) c.3582+313A>C (n.3582+313A>C) | |
| 6 | g.7580085A>G | CA362685089 | DSP | c.3895A>G (p.Met1299Val) c.3582+313A>G (n.3582+313A>G) | gnomAD v4 |
| 6 | g.7580085A>T | CA362685090 | DSP | c.3895A>T (p.Met1299Leu) c.3582+313A>T (n.3582+313A>T) | |
| 6 | g.7580086T>A | CA362685091 | DSP | c.3896T>A (p.Met1299Lys) c.3582+314T>A (n.3582+314T>A) | |
| 6 | g.7580086T>C | CA362685092 | DSP | c.3896T>C (p.Met1299Thr) c.3582+314T>C (n.3582+314T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7580086T>G | CA362685093 | DSP | c.3896T>G (p.Met1299Arg) c.3582+314T>G (n.3582+314T>G) | dbSNP gnomAD v4 |
| 6 | g.7580086T= | CA1608615762 | DSP | c.3896T= (p.Met1299=) c.3582+314T= (n.3582+314T=) | |
| 6 | g.7580087G>A | CA362685094 | DSP | c.3897G>A (p.Met1299Ile) c.3582+315G>A (n.3582+315G>A) | gnomAD v4 |
| 6 | g.7580087G>C | CA362685095 | DSP | c.3897G>C (p.Met1299Ile) c.3582+315G>C (n.3582+315G>C) | ClinVar dbSNP |
| 6 | g.7580087G>T | CA362685096 | DSP | c.3897G>T (p.Met1299Ile) c.3582+315G>T (n.3582+315G>T) | |
| 6 | g.7580088C>A | CA362685097 | DSP | c.3898C>A (p.Gln1300Lys) c.3582+316C>A (n.3582+316C>A) | |
| 6 | g.7580088C>G | CA362685098 | DSP | c.3898C>G (p.Gln1300Glu) c.3582+316C>G (n.3582+316C>G) | |
| 6 | g.7580088C>T | CA362685099 | DSP | c.3898C>T (p.Gln1300Ter) c.3582+316C>T (n.3582+316C>T) | |
| 6 | g.7580089A= | CA1608615771 | DSP | c.3899A= (p.Gln1300=) c.3582+317A= (n.3582+317A=) | |
| 6 | g.7580089A>C | CA362685101 | DSP | c.3899A>C (p.Gln1300Pro) c.3582+317A>C (n.3582+317A>C) | gnomAD v4 |
| 6 | g.7580089A>G | CA16612035 | DSP | c.3899A>G (p.Gln1300Arg) c.3582+317A>G (n.3582+317A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580089A>T | CA362685100 | DSP | c.3899A>T (p.Gln1300Leu) c.3582+317A>T (n.3582+317A>T) | |
| 6 | g.7580090G>A | CA448715314 | DSP | c.3900G>A (p.Gln1300=) c.3582+318G>A (n.3582+318G>A) | gnomAD v4 |
| 6 | g.7580090G>C | CA362685103 | DSP | c.3900G>C (p.Gln1300His) c.3582+318G>C (n.3582+318G>C) | |
| 6 | g.7580090G>T | CA362685102 | DSP | c.3900G>T (p.Gln1300His) c.3582+318G>T (n.3582+318G>T) | |
| 6 | g.7580091C>A | CA362685106 | DSP | c.3901C>A (p.Gln1301Lys) c.3582+319C>A (n.3582+319C>A) | |
| 6 | g.7580091C= | CA1608615780 | DSP | c.3901C= (p.Gln1301=) c.3582+319C= (n.3582+319C=) | |
| 6 | g.7580091C>G | CA362685104 | DSP | c.3901C>G (p.Gln1301Glu) c.3582+319C>G (n.3582+319C>G) | |
| 6 | g.7580091C>T | CA362685105 | DSP | c.3901C>T (p.Gln1301Ter) c.3582+319C>T (n.3582+319C>T) | ClinVar dbSNP COSMIC |
| 6 | g.7580092A>C | CA362685107 | DSP | c.3902A>C (p.Gln1301Pro) c.3582+320A>C (n.3582+320A>C) | |
| 6 | g.7580092A>G | CA362685108 | DSP | c.3902A>G (p.Gln1301Arg) c.3582+320A>G (n.3582+320A>G) | |
| 6 | g.7580092A>T | CA362685109 | DSP | c.3902A>T (p.Gln1301Leu) c.3582+320A>T (n.3582+320A>T) | ClinVar dbSNP |
| 6 | g.7580093G>A | CA448715318 | DSP | c.3903G>A (p.Gln1301=) c.3582+321G>A (n.3582+321G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580093G>C | CA362685110 | DSP | c.3903G>C (p.Gln1301His) c.3582+321G>C (n.3582+321G>C) | |
| 6 | g.7580093G= | CA1608615788 | DSP | c.3903G= (p.Gln1301=) c.3582+321G= (n.3582+321G=) | |
| 6 | g.7580093G>T | CA362685111 | DSP | c.3903G>T (p.Gln1301His) c.3582+321G>T (n.3582+321G>T) | |
| 6 | g.7580094C>A | CA362685112 | DSP | c.3904C>A (p.Arg1302Ser) c.3582+322C>A (n.3582+322C>A) | |
| 6 | g.7580094C= | CA1608615801 | DSP | c.3904C= (p.Arg1302=) c.3582+322C= (n.3582+322C=) | |
| 6 | g.7580094C>G | CA362685113 | DSP | c.3904C>G (p.Arg1302Gly) c.3582+322C>G (n.3582+322C>G) | |
| 6 | g.7580094C>T | CA039502 | DSP | c.3904C>T (p.Arg1302Cys) c.3582+322C>T (n.3582+322C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580095G>A | CA039514 | DSP | c.3905G>A (p.Arg1302His) c.3582+323G>A (n.3582+323G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7580095G>C | CA362685114 | DSP | c.3905G>C (p.Arg1302Pro) c.3582+323G>C (n.3582+323G>C) | |
| 6 | g.7580095G= | CA1608615815 | DSP | c.3905G= (p.Arg1302=) c.3582+323G= (n.3582+323G=) | |
| 6 | g.7580095G>T | CA362685115 | DSP | c.3905G>T (p.Arg1302Leu) c.3582+323G>T (n.3582+323G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580096C>A | CA448715323 | DSP | c.3906C>A (p.Arg1302=) c.3582+324C>A (n.3582+324C>A) | |
| 6 | g.7580096C>G | CA448715324 | DSP | c.3906C>G (p.Arg1302=) c.3582+324C>G (n.3582+324C>G) | |
| 6 | g.7580096C>T | CA448715322 | DSP | c.3906C>T (p.Arg1302=) c.3582+324C>T (n.3582+324C>T) | gnomAD v4 |
| 6 | g.7580097T>A | CA362685118 | DSP | c.3907T>A (p.Ser1303Thr) c.3582+325T>A (n.3582+325T>A) | |
| 6 | g.7580097T>C | CA362685116 | DSP | c.3907T>C (p.Ser1303Pro) c.3582+325T>C (n.3582+325T>C) | |
| 6 | g.7580097T>G | CA362685117 | DSP | c.3907T>G (p.Ser1303Ala) c.3582+325T>G (n.3582+325T>G) | |
| 6 | g.7580098C>A | CA362685119 | DSP | c.3908C>A (p.Ser1303Tyr) c.3582+326C>A (n.3582+326C>A) | |
| 6 | g.7580098C>G | CA362685120 | DSP | c.3908C>G (p.Ser1303Cys) c.3582+326C>G (n.3582+326C>G) | |
| 6 | g.7580098C>T | CA362685121 | DSP | c.3908C>T (p.Ser1303Phe) c.3582+326C>T (n.3582+326C>T) | |
| 6 | g.7580099_7580111del | CA2580075409 | DSP | c.3909_3921del (p.Glu1304GlyfsTer?) c.3582+327_3582+339del (n.3582+327_3582+339del) | ClinVar |
| 6 | g.7580099T>A | CA448715330 | DSP | c.3909T>A (p.Ser1303=) c.3582+327T>A (n.3582+327T>A) | |
| 6 | g.7580099T>C | CA448715331 | DSP | c.3909T>C (p.Ser1303=) c.3582+327T>C (n.3582+327T>C) | |
| 6 | g.7580099T>G | CA448715333 | DSP | c.3909T>G (p.Ser1303=) c.3582+327T>G (n.3582+327T>G) | |
| 6 | g.7580100G>A | CA362685122 | DSP | c.3910G>A (p.Glu1304Lys) c.3582+328G>A (n.3582+328G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580100G>C | CA362685123 | DSP | c.3910G>C (p.Glu1304Gln) c.3582+328G>C (n.3582+328G>C) | |
| 6 | g.7580100G= | CA1608615825 | DSP | c.3910G= (p.Glu1304=) c.3582+328G= (n.3582+328G=) | |
| 6 | g.7580100G>T | CA362685124 | DSP | c.3910G>T (p.Glu1304Ter) c.3582+328G>T (n.3582+328G>T) | |
| 6 | g.7580101A>C | CA362685125 | DSP | c.3911A>C (p.Glu1304Ala) c.3582+329A>C (n.3582+329A>C) | |
| 6 | g.7580101A>G | CA362685126 | DSP | c.3911A>G (p.Glu1304Gly) c.3582+329A>G (n.3582+329A>G) | |
| 6 | g.7580101A>T | CA362685127 | DSP | c.3911A>T (p.Glu1304Val) c.3582+329A>T (n.3582+329A>T) | |
| 6 | g.7580102G>A | CA448715338 | DSP | c.3912G>A (p.Glu1304=) c.3582+330G>A (n.3582+330G>A) | |
| 6 | g.7580102G>C | CA039532 | DSP | c.3912G>C (p.Glu1304Asp) c.3582+330G>C (n.3582+330G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580102G= | CA1608615841 | DSP | c.3912G= (p.Glu1304=) c.3582+330G= (n.3582+330G=) | |
| 6 | g.7580102G>T | CA362685128 | DSP | c.3912G>T (p.Glu1304Asp) c.3582+330G>T (n.3582+330G>T) | |
| 6 | g.7580103del | CA2573050737 | DSP | c.3913del (p.Asp1305ThrfsTer?) c.3582+331del (n.3582+331del) | |
| 6 | g.7580103G>A | CA362685131 | DSP | c.3913G>A (p.Asp1305Asn) c.3582+331G>A (n.3582+331G>A) | |
| 6 | g.7580103G>C | CA362685130 | DSP | c.3913G>C (p.Asp1305His) c.3582+331G>C (n.3582+331G>C) | |
| 6 | g.7580103G>T | CA362685129 | DSP | c.3913G>T (p.Asp1305Tyr) c.3582+331G>T (n.3582+331G>T) | |
| 6 | g.7580104A>C | CA362685132 | DSP | c.3914A>C (p.Asp1305Ala) c.3582+332A>C (n.3582+332A>C) | |
| 6 | g.7580104A>G | CA362685133 | DSP | c.3914A>G (p.Asp1305Gly) c.3582+332A>G (n.3582+332A>G) | |
| 6 | g.7580104A>T | CA362685134 | DSP | c.3914A>T (p.Asp1305Val) c.3582+332A>T (n.3582+332A>T) | |
| 6 | g.7580105C>A | CA362685135 | DSP | c.3915C>A (p.Asp1305Glu) c.3582+333C>A (n.3582+333C>A) | |
| 6 | g.7580105C= | CA1608615844 | DSP | c.3915C= (p.Asp1305=) c.3582+333C= (n.3582+333C=) | |
| 6 | g.7580105C>G | CA039550 | DSP | c.3915C>G (p.Asp1305Glu) c.3582+333C>G (n.3582+333C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580105C>T | CA448715342 | DSP | c.3915C>T (p.Asp1305=) c.3582+333C>T (n.3582+333C>T) | gnomAD v4 |
| 6 | g.7580106A>C | CA362685138 | DSP | c.3916A>C (p.Asn1306His) c.3582+334A>C (n.3582+334A>C) | |
| 6 | g.7580106A>G | CA362685137 | DSP | c.3916A>G (p.Asn1306Asp) c.3582+334A>G (n.3582+334A>G) | |
| 6 | g.7580106A>T | CA362685136 | DSP | c.3916A>T (p.Asn1306Tyr) c.3582+334A>T (n.3582+334A>T) | |
| 6 | g.7580107A>C | CA362685139 | DSP | c.3917A>C (p.Asn1306Thr) c.3582+335A>C (n.3582+335A>C) | |
| 6 | g.7580107A>G | CA362685140 | DSP | c.3917A>G (p.Asn1306Ser) c.3582+335A>G (n.3582+335A>G) | |
| 6 | g.7580107A>T | CA362685141 | DSP | c.3917A>T (p.Asn1306Ile) c.3582+335A>T (n.3582+335A>T) | |
| 6 | g.7580108T>A | CA362685142 | DSP | c.3918T>A (p.Asn1306Lys) c.3582+336T>A (n.3582+336T>A) | |
| 6 | g.7580108T>C | CA039568 | DSP | c.3918T>C (p.Asn1306=) c.3582+336T>C (n.3582+336T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7580108T>G | CA362685143 | DSP | c.3918T>G (p.Asn1306Lys) c.3582+336T>G (n.3582+336T>G) | |
| 6 | g.7580108T= | CA1608615848 | DSP | c.3918T= (p.Asn1306=) c.3582+336T= (n.3582+336T=) | |
| 6 | g.7580109G>A | CA039587 | DSP | c.3919G>A (p.Ala1307Thr) c.3582+337G>A (n.3582+337G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580109G>C | CA362685145 | DSP | c.3919G>C (p.Ala1307Pro) c.3582+337G>C (n.3582+337G>C) | |
| 6 | g.7580109G= | CA1608615854 | DSP | c.3919G= (p.Ala1307=) c.3582+337G= (n.3582+337G=) | |
| 6 | g.7580109G>T | CA362685144 | DSP | c.3919G>T (p.Ala1307Ser) c.3582+337G>T (n.3582+337G>T) | ClinVar dbSNP |
| 6 | g.7580109_7580110delinsTT | CA2740090879 | DSP | c.3919_3920delinsTT (p.Ala1307Phe) c.3582+337_3582+338delinsTT (n.3582+337_3582+338delinsTT) | ClinVar |
| 6 | g.7580110C>A | CA362685146 | DSP | c.3920C>A (p.Ala1307Asp) c.3582+338C>A (n.3582+338C>A) | |
| 6 | g.7580110C>G | CA362685147 | DSP | c.3920C>G (p.Ala1307Gly) c.3582+338C>G (n.3582+338C>G) | |
| 6 | g.7580110C>T | CA362685148 | DSP | c.3920C>T (p.Ala1307Val) c.3582+338C>T (n.3582+338C>T) | gnomAD v4 COSMIC |
| 6 | g.7580111C>A | CA448714472 | DSP | c.3921C>A (p.Ala1307=) c.3582+339C>A (n.3582+339C>A) | |
| 6 | g.7580111C>G | CA448714473 | DSP | c.3921C>G (p.Ala1307=) c.3582+339C>G (n.3582+339C>G) | gnomAD v4 |
| 6 | g.7580111C>T | CA448714474 | DSP | c.3921C>T (p.Ala1307=) c.3582+339C>T (n.3582+339C>T) | gnomAD v4 |
| 6 | g.7580112C>A | CA448714475 | DSP | c.3922C>A (p.Arg1308=) c.3582+340C>A (n.3582+340C>A) | |
| 6 | g.7580112C= | CA1608615865 | DSP | c.3922C= (p.Arg1308=) c.3582+340C= (n.3582+340C=) | |
| 6 | g.7580112C>G | CA362685149 | DSP | c.3922C>G (p.Arg1308Gly) c.3582+340C>G (n.3582+340C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7580112C>T | CA039598 | DSP | c.3922C>T (p.Arg1308Trp) c.3582+340C>T (n.3582+340C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7580113G>A | CA004286 | DSP | c.3923G>A (p.Arg1308Gln) c.3582+341G>A (n.3582+341G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580113G>C | CA039623 | DSP | c.3923G>C (p.Arg1308Pro) c.3582+341G>C (n.3582+341G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7580113G= | CA1608615877 | DSP | c.3923G= (p.Arg1308=) c.3582+341G= (n.3582+341G=) | |
| 6 | g.7580113G>T | CA362685150 | DSP | c.3923G>T (p.Arg1308Leu) c.3582+341G>T (n.3582+341G>T) | ClinVar dbSNP |
| 6 | g.7580114del | CA2695206010 | DSP | c.3924del (p.His1309ThrfsTer?) c.3582+342del (n.3582+342del) | |
| 6 | g.7580114_7580120del | CA645551225 | DSP | c.3924_3930del (p.His1309SerfsTer?) c.3582+342_3582+348del (n.3582+342_3582+348del) | COSMIC |
| 6 | g.7580114G>A | CA448714477 | DSP | c.3924G>A (p.Arg1308=) c.3582+342G>A (n.3582+342G>A) | gnomAD v4 COSMIC |
| 6 | g.7580114G>C | CA448714478 | DSP | c.3924G>C (p.Arg1308=) c.3582+342G>C (n.3582+342G>C) | |
| 6 | g.7580114G>T | CA448714479 | DSP | c.3924G>T (p.Arg1308=) c.3582+342G>T (n.3582+342G>T) | |
| 6 | g.7580114_7580115del | CA2580075410 | DSP | c.3924_3925del (p.His1309GlnfsTer16) c.3582+342_3582+343del (n.3582+342_3582+343del) | ClinVar |
| 6 | g.7580115C>A | CA362685151 | DSP | c.3925C>A (p.His1309Asn) c.3582+343C>A (n.3582+343C>A) | |
| 6 | g.7580115C>G | CA362685152 | DSP | c.3925C>G (p.His1309Asp) c.3582+343C>G (n.3582+343C>G) | |
| 6 | g.7580115C>T | CA362685153 | DSP | c.3925C>T (p.His1309Tyr) c.3582+343C>T (n.3582+343C>T) | |
| 6 | g.7580116A>C | CA362685155 | DSP | c.3926A>C (p.His1309Pro) c.3582+344A>C (n.3582+344A>C) | |
| 6 | g.7580116A>G | CA362685156 | DSP | c.3926A>G (p.His1309Arg) c.3582+344A>G (n.3582+344A>G) | |
| 6 | g.7580116A>T | CA362685154 | DSP | c.3926A>T (p.His1309Leu) c.3582+344A>T (n.3582+344A>T) | |
| 6 | g.7580117C>A | CA362685157 | DSP | c.3927C>A (p.His1309Gln) c.3582+345C>A (n.3582+345C>A) | |
| 6 | g.7580117C>G | CA362685158 | DSP | c.3927C>G (p.His1309Gln) c.3582+345C>G (n.3582+345C>G) | |
| 6 | g.7580117C>T | CA448714482 | DSP | c.3927C>T (p.His1309=) c.3582+345C>T (n.3582+345C>T) | |
| 6 | g.7580118A= | CA1608615912 | DSP | c.3928A= (p.Lys1310=) c.3582+346A= (n.3582+346A=) | |
| 6 | g.7580118A>C | CA362685159 | DSP | c.3928A>C (p.Lys1310Gln) c.3582+346A>C (n.3582+346A>C) | |
| 6 | g.7580118A>G | CA362685161 | DSP | c.3928A>G (p.Lys1310Glu) c.3582+346A>G (n.3582+346A>G) | gnomAD v4 |
| 6 | g.7580118A>T | CA362685160 | DSP | c.3928A>T (p.Lys1310Ter) c.3582+346A>T (n.3582+346A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7580119A>C | CA362685162 | DSP | c.3929A>C (p.Lys1310Thr) c.3582+347A>C (n.3582+347A>C) | gnomAD v4 |
| 6 | g.7580119A>G | CA362685163 | DSP | c.3929A>G (p.Lys1310Arg) c.3582+347A>G (n.3582+347A>G) | gnomAD v4 |
| 6 | g.7580119A>T | CA362685164 | DSP | c.3929A>T (p.Lys1310Met) c.3582+347A>T (n.3582+347A>T) | |
| 6 | g.7580120G>A | CA448714484 | DSP | c.3930G>A (p.Lys1310=) c.3582+348G>A (n.3582+348G>A) | |
| 6 | g.7580120G>C | CA362685165 | DSP | c.3930G>C (p.Lys1310Asn) c.3582+348G>C (n.3582+348G>C) | |
| 6 | g.7580120G>T | CA362685166 | DSP | c.3930G>T (p.Lys1310Asn) c.3582+348G>T (n.3582+348G>T) | |
| 6 | g.7580121del | CA2695206011 | DSP | c.3931del (p.Gln1311SerfsTer?) c.3582+349del (n.3582+349del) | |
| 6 | g.7580121C>A | CA362685167 | DSP | c.3931C>A (p.Gln1311Lys) c.3582+349C>A (n.3582+349C>A) | |
| 6 | g.7580121C>G | CA362685168 | DSP | c.3931C>G (p.Gln1311Glu) c.3582+349C>G (n.3582+349C>G) | |
| 6 | g.7580121C>T | CA362685169 | DSP | c.3931C>T (p.Gln1311Ter) c.3582+349C>T (n.3582+349C>T) | ClinVar |
| 6 | g.7580122A>C | CA362685170 | DSP | c.3932A>C (p.Gln1311Pro) c.3582+350A>C (n.3582+350A>C) | ClinVar gnomAD v4 |
| 6 | g.7580122A>G | CA362685171 | DSP | c.3932A>G (p.Gln1311Arg) c.3582+350A>G (n.3582+350A>G) | |
| 6 | g.7580122A>T | CA362685172 | DSP | c.3932A>T (p.Gln1311Leu) c.3582+350A>T (n.3582+350A>T) | |
| 6 | g.7580123G>A | CA448714485 | DSP | c.3933G>A (p.Gln1311=) c.3582+351G>A (n.3582+351G>A) | gnomAD v4 |
| 6 | g.7580123G>C | CA362685173 | DSP | c.3933G>C (p.Gln1311His) c.3582+351G>C (n.3582+351G>C) | |
| 6 | g.7580123G>T | CA362685174 | DSP | c.3933G>T (p.Gln1311His) c.3582+351G>T (n.3582+351G>T) | gnomAD v4 |
| 6 | g.7580124T>A | CA362685177 | DSP | c.3934T>A (p.Ser1312Thr) c.3582+352T>A (n.3582+352T>A) | |
| 6 | g.7580124T>C | CA362685175 | DSP | c.3934T>C (p.Ser1312Pro) c.3582+352T>C (n.3582+352T>C) | ClinVar |
| 6 | g.7580124T>G | CA362685176 | DSP | c.3934T>G (p.Ser1312Ala) c.3582+352T>G (n.3582+352T>G) | |
| 6 | g.7580125C>A | CA362685178 | DSP | c.3935C>A (p.Ser1312Tyr) c.3582+353C>A (n.3582+353C>A) | |
| 6 | g.7580125C= | CA1608615918 | DSP | c.3935C= (p.Ser1312=) c.3582+353C= (n.3582+353C=) | |
| 6 | g.7580125C>G | CA362685179 | DSP | c.3935C>G (p.Ser1312Cys) c.3582+353C>G (n.3582+353C>G) | ClinVar dbSNP |
| 6 | g.7580125C>T | CA362685180 | DSP | c.3935C>T (p.Ser1312Phe) c.3582+353C>T (n.3582+353C>T) | COSMIC |