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 |
|---|---|---|---|---|---|
| 1 | g.115744819C>T | CA2574037344 | CASQ2 | c.43+9G>A (n.43+9G>A) c.319+9G>A (n.319+9G>A) | |
| 1 | g.115744822_115744823del | CA2647280493 | CASQ2 | c.43+8_43+9del (n.43+8_43+9del) c.319+8_319+9del (n.319+8_319+9del) | gnomAD v4 |
| 1 | g.115744820A>C | CA2647280494 | CASQ2 | c.43+8T>G (n.43+8T>G) c.319+8T>G (n.319+8T>G) | gnomAD v4 |
| 1 | g.115744821C>A | CA885953435 | CASQ2 | c.43+7G>T (n.43+7G>T) c.319+7G>T (n.319+7G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115744821C= | CA1190732234 | CASQ2 | c.43+7G= (n.43+7G=) c.319+7G= (n.319+7G=) | |
| 1 | g.115744822_115744828del | CA2647280495 | CASQ2 | c.43+1_43+7del c.319+1_319+7del | gnomAD v4 |
| 1 | g.115744822A= | CA1190732235 | CASQ2 | c.43+6T= (n.43+6T=) c.319+6T= (n.319+6T=) | |
| 1 | g.115744822A>T | CA1190732236 | CASQ2 | c.43+6T>A (n.43+6T>A) c.319+6T>A (n.319+6T>A) | dbSNP |
| 1 | g.115744823C>T | CA2647280496 | CASQ2 | c.43+5G>A (n.43+5G>A) c.319+5G>A (n.319+5G>A) | gnomAD v4 |
| 1 | g.115744824T>C | CA2647280499 | CASQ2 | c.43+4A>G (n.43+4A>G) c.319+4A>G (n.319+4A>G) | gnomAD v4 |
| 1 | g.115744824_115744825del | CA2647280498 | CASQ2 | c.43+3_43+4del (n.43+3_43+4del) c.319+3_319+4del (n.319+3_319+4del) | gnomAD v4 |
| 1 | g.115744825del | CA2647280497 | CASQ2 | c.43+4del (n.43+4del) c.319+4del (n.319+4del) | gnomAD v4 |
| 1 | g.115744825T>A | CA2574037345 | CASQ2 | c.43+3A>T (n.43+3A>T) c.319+3A>T (n.319+3A>T) | |
| 1 | g.115744825T>G | CA2647280500 | CASQ2 | c.43+3A>C (n.43+3A>C) c.319+3A>C (n.319+3A>C) | gnomAD v4 |
| 1 | g.115744826A>C | CA341765204 | CASQ2 | c.43+2T>G (n.43+2T>G) c.319+2T>G (n.319+2T>G) | ClinVar |
| 1 | g.115744826A>G | CA341765206 | CASQ2 | c.43+2T>C (n.43+2T>C) c.319+2T>C (n.319+2T>C) | |
| 1 | g.115744826A>T | CA341765209 | CASQ2 | c.43+2T>A (n.43+2T>A) c.319+2T>A (n.319+2T>A) | |
| 1 | g.115744827C>A | CA341765211 | CASQ2 | c.43+1G>T (n.43+1G>T) c.319+1G>T (n.319+1G>T) | |
| 1 | g.115744827C= | CA1190732237 | CASQ2 | c.43+1G= (n.43+1G=) c.319+1G= (n.319+1G=) | |
| 1 | g.115744827C>G | CA341765213 | CASQ2 | c.43+1G>C (n.43+1G>C) c.319+1G>C (n.319+1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115744827C>T | CA341765215 | CASQ2 | c.43+1G>A (n.43+1G>A) c.319+1G>A (n.319+1G>A) | ClinVar dbSNP |
| 1 | g.115744829del | CA2647280501 | CASQ2 | c.43+1del c.319+1del | gnomAD v4 |
| 1 | g.115744828C>A | CA341765221 | CASQ2 | c.43G>T (p.Gly15Cys) c.319G>T (p.Gly107Cys) | |
| 1 | g.115744828C= | CA1190732238 | CASQ2 | c.43G= (p.Gly15=) c.319G= (p.Gly107=) | |
| 1 | g.115744828C>G | CA341765219 | CASQ2 | c.43G>C (p.Gly15Arg) c.319G>C (p.Gly107Arg) | |
| 1 | g.115744828C>T | CA341765217 | CASQ2 | c.43G>A (p.Gly15Ser) c.319G>A (p.Gly107Ser) | dbSNP |
| 1 | g.115744829C>A | CA419895771 | CASQ2 | c.42G>T (p.Leu14=) c.318G>T (p.Leu106=) | |
| 1 | g.115744829C>G | CA419895769 | CASQ2 | c.42G>C (p.Leu14=) c.318G>C (p.Leu106=) | |
| 1 | g.115744829C>T | CA419895770 | CASQ2 | c.42G>A (p.Leu14=) c.318G>A (p.Leu106=) | |
| 1 | g.115744830A>C | CA341765223 | CASQ2 | c.41T>G (p.Leu14Arg) c.317T>G (p.Leu106Arg) | |
| 1 | g.115744830A>G | CA341765224 | CASQ2 | c.41T>C (p.Leu14Pro) c.317T>C (p.Leu106Pro) | |
| 1 | g.115744830A>T | CA341765226 | CASQ2 | c.41T>A (p.Leu14Gln) c.317T>A (p.Leu106Gln) | |
| 1 | g.115744831G>A | CA419895772 | CASQ2 | c.40C>T (p.Leu14=) c.316C>T (p.Leu106=) | |
| 1 | g.115744831G>C | CA341765228 | CASQ2 | c.40C>G (p.Leu14Val) c.316C>G (p.Leu106Val) | |
| 1 | g.115744831G>T | CA341765230 | CASQ2 | c.40C>A (p.Leu14Met) c.316C>A (p.Leu106Met) | |
| 1 | g.115744832T>A | CA341765232 | CASQ2 | c.39A>T (p.Lys13Asn) c.315A>T (p.Lys105Asn) | |
| 1 | g.115744832T>C | CA419895773 | CASQ2 | c.39A>G (p.Lys13=) c.315A>G (p.Lys105=) | |
| 1 | g.115744832T>G | CA341765234 | CASQ2 | c.39A>C (p.Lys13Asn) c.315A>C (p.Lys105Asn) | |
| 1 | g.115744833T>A | CA341765239 | CASQ2 | c.38A>T (p.Lys13Ile) c.314A>T (p.Lys105Ile) | |
| 1 | g.115744833T>C | CA341765236 | CASQ2 | c.38A>G (p.Lys13Arg) c.314A>G (p.Lys105Arg) | |
| 1 | g.115744833T>G | CA341765238 | CASQ2 | c.38A>C (p.Lys13Thr) c.314A>C (p.Lys105Thr) | |
| 1 | g.115744834T>A | CA341765241 | CASQ2 | c.37A>T (p.Lys13Ter) c.313A>T (p.Lys105Ter) | |
| 1 | g.115744834T>C | CA341765243 | CASQ2 | c.37A>G (p.Lys13Glu) c.313A>G (p.Lys105Glu) | |
| 1 | g.115744834T>G | CA341765245 | CASQ2 | c.37A>C (p.Lys13Gln) c.313A>C (p.Lys105Gln) | |
| 1 | g.115744835C>A | CA341765247 | CASQ2 | c.36G>T (p.Lys12Asn) c.312G>T (p.Lys104Asn) | gnomAD v4 |
| 1 | g.115744835C>G | CA341765249 | CASQ2 | c.36G>C (p.Lys12Asn) c.312G>C (p.Lys104Asn) | |
| 1 | g.115744835C>T | CA419895774 | CASQ2 | c.36G>A (p.Lys12=) c.312G>A (p.Lys104=) | |
| 1 | g.115744836T>A | CA341765251 | CASQ2 | c.35A>T (p.Lys12Met) c.311A>T (p.Lys104Met) | |
| 1 | g.115744836T>C | CA341765253 | CASQ2 | c.35A>G (p.Lys12Arg) c.311A>G (p.Lys104Arg) | |
| 1 | g.115744836T>G | CA1023957 | CASQ2 | c.35A>C (p.Lys12Thr) c.311A>C (p.Lys104Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115744836T= | CA1190732239 | CASQ2 | c.35A= (p.Lys12=) c.311A= (p.Lys104=) | |
| 1 | g.115744837T>A | CA341765255 | CASQ2 | c.34A>T (p.Lys12Ter) c.310A>T (p.Lys104Ter) | |
| 1 | g.115744837T>C | CA341765257 | CASQ2 | c.34A>G (p.Lys12Glu) c.310A>G (p.Lys104Glu) | gnomAD v4 |
| 1 | g.115744837T>G | CA341765259 | CASQ2 | c.34A>C (p.Lys12Gln) c.310A>C (p.Lys104Gln) | |
| 1 | g.115744838G>A | CA419895775 | CASQ2 | c.33C>T (p.Ala11=) c.309C>T (p.Ala103=) | gnomAD v4 |
| 1 | g.115744838G>C | CA419895776 | CASQ2 | c.33C>G (p.Ala11=) c.309C>G (p.Ala103=) | |
| 1 | g.115744838G>T | CA419895777 | CASQ2 | c.33C>A (p.Ala11=) c.309C>A (p.Ala103=) | |
| 1 | g.115744839G>A | CA341765261 | CASQ2 | c.32C>T (p.Ala11Val) c.308C>T (p.Ala103Val) | |
| 1 | g.115744839G>C | CA341765262 | CASQ2 | c.32C>G (p.Ala11Gly) c.308C>G (p.Ala103Gly) | |
| 1 | g.115744839G>T | CA341765264 | CASQ2 | c.32C>A (p.Ala11Asp) c.308C>A (p.Ala103Asp) | COSMIC |
| 1 | g.115744840C>A | CA341765266 | CASQ2 | c.31G>T (p.Ala11Ser) c.307G>T (p.Ala103Ser) | |
| 1 | g.115744840C>G | CA341765268 | CASQ2 | c.31G>C (p.Ala11Pro) c.307G>C (p.Ala103Pro) | |
| 1 | g.115744840C>T | CA341765270 | CASQ2 | c.31G>A (p.Ala11Thr) c.307G>A (p.Ala103Thr) | |
| 1 | g.115744841A= | CA1190732240 | CASQ2 | c.30T= (p.Leu10=) c.306T= (p.Leu102=) | |
| 1 | g.115744841A>C | CA419895778 | CASQ2 | c.30T>G (p.Leu10=) c.306T>G (p.Leu102=) | ClinVar |
| 1 | g.115744841A>G | CA419895779 | CASQ2 | c.30T>C (p.Leu10=) c.306T>C (p.Leu102=) | dbSNP |
| 1 | g.115744841A>T | CA419895780 | CASQ2 | c.30T>A (p.Leu10=) c.306T>A (p.Leu102=) | |
| 1 | g.115744842A>C | CA341765272 | CASQ2 | c.29T>G (p.Leu10Arg) c.305T>G (p.Leu102Arg) | |
| 1 | g.115744842A>G | CA341765274 | CASQ2 | c.29T>C (p.Leu10Pro) c.305T>C (p.Leu102Pro) | |
| 1 | g.115744842A>T | CA341765276 | CASQ2 | c.29T>A (p.Leu10His) c.305T>A (p.Leu102His) | ClinVar |
| 1 | g.115744843G>A | CA341765278 | CASQ2 | c.28C>T (p.Leu10Phe) c.304C>T (p.Leu102Phe) | |
| 1 | g.115744843G>C | CA341765282 | CASQ2 | c.28C>G (p.Leu10Val) c.304C>G (p.Leu102Val) | dbSNP |
| 1 | g.115744843G= | CA1190732241 | CASQ2 | c.28C= (p.Leu10=) c.304C= (p.Leu102=) | |
| 1 | g.115744843G>T | CA341765281 | CASQ2 | c.28C>A (p.Leu10Ile) c.304C>A (p.Leu102Ile) | |
| 1 | g.115744844C>A | CA341765284 | CASQ2 | c.27G>T (p.Lys9Asn) c.303G>T (p.Lys101Asn) | |
| 1 | g.115744844C>G | CA341765286 | CASQ2 | c.27G>C (p.Lys9Asn) c.303G>C (p.Lys101Asn) | |
| 1 | g.115744844C>T | CA419895781 | CASQ2 | c.27G>A (p.Lys9=) c.303G>A (p.Lys101=) | ClinVar |
| 1 | g.115744845T>A | CA341765288 | CASQ2 | c.26A>T (p.Lys9Met) c.302A>T (p.Lys101Met) | |
| 1 | g.115744845T>C | CA341765290 | CASQ2 | c.26A>G (p.Lys9Arg) c.302A>G (p.Lys101Arg) | |
| 1 | g.115744845T>G | CA341765292 | CASQ2 | c.26A>C (p.Lys9Thr) c.302A>C (p.Lys101Thr) | |
| 1 | g.115744846T>A | CA341765294 | CASQ2 | c.25A>T (p.Lys9Ter) c.301A>T (p.Lys101Ter) | |
| 1 | g.115744846T>C | CA341765297 | CASQ2 | c.25A>G (p.Lys9Glu) c.301A>G (p.Lys101Glu) | |
| 1 | g.115744846T>G | CA341765299 | CASQ2 | c.25A>C (p.Lys9Gln) c.301A>C (p.Lys101Gln) | |
| 1 | g.115744847G>A | CA419895782 | CASQ2 | c.24C>T (p.Ala8=) c.300C>T (p.Ala100=) | |
| 1 | g.115744847G>C | CA419895783 | CASQ2 | c.24C>G (p.Ala8=) c.300C>G (p.Ala100=) | |
| 1 | g.115744847G>T | CA419895784 | CASQ2 | c.24C>A (p.Ala8=) c.300C>A (p.Ala100=) | |
| 1 | g.115744848G>A | CA29609772 | CASQ2 | c.23C>T (p.Ala8Val) c.299C>T (p.Ala100Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744848G>C | CA341765302 | CASQ2 | c.23C>G (p.Ala8Gly) c.299C>G (p.Ala100Gly) | |
| 1 | g.115744848G= | CA1190732242 | CASQ2 | c.23C= (p.Ala8=) c.299C= (p.Ala100=) | |
| 1 | g.115744848G>T | CA341765304 | CASQ2 | c.23C>A (p.Ala8Asp) c.299C>A (p.Ala100Asp) | |
| 1 | g.115744849C>A | CA341765311 | CASQ2 | c.22G>T (p.Ala8Ser) c.298G>T (p.Ala100Ser) | |
| 1 | g.115744849C>G | CA341765309 | CASQ2 | c.22G>C (p.Ala8Pro) c.298G>C (p.Ala100Pro) | |
| 1 | g.115744849C>T | CA341765307 | CASQ2 | c.22G>A (p.Ala8Thr) c.298G>A (p.Ala100Thr) | gnomAD v4 |
| 1 | g.115744850T>A | CA341765313 | CASQ2 | c.21A>T (p.Glu7Asp) c.297A>T (p.Glu99Asp) | |
| 1 | g.115744850T>C | CA419895785 | CASQ2 | c.21A>G (p.Glu7=) c.297A>G (p.Glu99=) | dbSNP gnomAD v4 |
| 1 | g.115744850T>G | CA341765315 | CASQ2 | c.21A>C (p.Glu7Asp) c.297A>C (p.Glu99Asp) | |
| 1 | g.115744850T= | CA1190732243 | CASQ2 | c.21A= (p.Glu7=) c.297A= (p.Glu99=) | |
| 1 | g.115744851del | CA645523452 | CASQ2 | c.21del (p.Ala8ProfsTer24) c.297del (p.Ala100ProfsTer24) | COSMIC |
| 1 | g.115744855_115744858del | CA2647280502 | CASQ2 | c.18_21del (p.Glu7ProfsTer24) c.294_297del (p.Glu99ProfsTer24) | gnomAD v4 |
| 1 | g.115744851T>A | CA341765318 | CASQ2 | c.20A>T (p.Glu7Val) c.296A>T (p.Glu99Val) | |
| 1 | g.115744851T>C | CA341765320 | CASQ2 | c.20A>G (p.Glu7Gly) c.296A>G (p.Glu99Gly) | |
| 1 | g.115744851T>G | CA341765322 | CASQ2 | c.20A>C (p.Glu7Ala) c.296A>C (p.Glu99Ala) | |
| 1 | g.115744852C>A | CA341765324 | CASQ2 | c.19G>T (p.Glu7Ter) c.295G>T (p.Glu99Ter) | |
| 1 | g.115744852C>G | CA341765327 | CASQ2 | c.19G>C (p.Glu7Gln) c.295G>C (p.Glu99Gln) | |
| 1 | g.115744852C>T | CA341765329 | CASQ2 | c.19G>A (p.Glu7Lys) c.295G>A (p.Glu99Lys) | COSMIC |
| 1 | g.115744853T>A | CA341765331 | CASQ2 | c.18A>T (p.Lys6Asn) c.294A>T (p.Lys98Asn) | |
| 1 | g.115744853T>C | CA419895786 | CASQ2 | c.18A>G (p.Lys6=) c.294A>G (p.Lys98=) | ClinVar dbSNP |
| 1 | g.115744853T>G | CA341765333 | CASQ2 | c.18A>C (p.Lys6Asn) c.294A>C (p.Lys98Asn) | |
| 1 | g.115744853T= | CA1190732244 | CASQ2 | c.18A= (p.Lys6=) c.294A= (p.Lys98=) | |
| 1 | g.115744854T>A | CA341765336 | CASQ2 | c.17A>T (p.Lys6Ile) c.293A>T (p.Lys98Ile) | |
| 1 | g.115744854T>C | CA341765338 | CASQ2 | c.17A>G (p.Lys6Arg) c.293A>G (p.Lys98Arg) | gnomAD v4 |
| 1 | g.115744854T>G | CA341765340 | CASQ2 | c.17A>C (p.Lys6Thr) c.293A>C (p.Lys98Thr) | |
| 1 | g.115744855T>A | CA341765345 | CASQ2 | c.16A>T (p.Lys6Ter) c.292A>T (p.Lys98Ter) | |
| 1 | g.115744855T>C | CA341765347 | CASQ2 | c.16A>G (p.Lys6Glu) c.292A>G (p.Lys98Glu) | ClinVar |
| 1 | g.115744855T>G | CA341765343 | CASQ2 | c.16A>C (p.Lys6Gln) c.292A>C (p.Lys98Gln) | gnomAD v4 |
| 1 | g.115744856C>A | CA341765351 | CASQ2 | c.15G>T (p.Lys5Asn) c.291G>T (p.Lys97Asn) | |
| 1 | g.115744856C>G | CA341765350 | CASQ2 | c.15G>C (p.Lys5Asn) c.291G>C (p.Lys97Asn) | |
| 1 | g.115744856C>T | CA419895787 | CASQ2 | c.15G>A (p.Lys5=) c.291G>A (p.Lys97=) | gnomAD v4 |
| 1 | g.115744857T>A | CA341765356 | CASQ2 | c.14A>T (p.Lys5Met) c.290A>T (p.Lys97Met) | |
| 1 | g.115744857T>C | CA341765354 | CASQ2 | c.14A>G (p.Lys5Arg) c.290A>G (p.Lys97Arg) | gnomAD v4 |
| 1 | g.115744857T>G | CA341765358 | CASQ2 | c.14A>C (p.Lys5Thr) c.290A>C (p.Lys97Thr) | ClinVar |
| 1 | g.115744858T>A | CA341765359 | CASQ2 | c.13A>T (p.Lys5Ter) c.289A>T (p.Lys97Ter) | |
| 1 | g.115744858T>C | CA1023958 | CASQ2 | c.13A>G (p.Lys5Glu) c.289A>G (p.Lys97Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744858T>G | CA341765362 | CASQ2 | c.13A>C (p.Lys5Gln) c.289A>C (p.Lys97Gln) | |
| 1 | g.115744858T= | CA1190732245 | CASQ2 | c.13A= (p.Lys5=) c.289A= (p.Lys97=) | |
| 1 | g.115744859G>A | CA419895788 | CASQ2 | c.12C>T (p.Ala4=) c.288C>T (p.Ala96=) | |
| 1 | g.115744859G>C | CA419895789 | CASQ2 | c.12C>G (p.Ala4=) c.288C>G (p.Ala96=) | |
| 1 | g.115744859G>T | CA419895790 | CASQ2 | c.12C>A (p.Ala4=) c.288C>A (p.Ala96=) | |
| 1 | g.115744860G>A | CA341765365 | CASQ2 | c.11C>T (p.Ala4Val) c.287C>T (p.Ala96Val) | |
| 1 | g.115744860G>C | CA341765367 | CASQ2 | c.11C>G (p.Ala4Gly) c.287C>G (p.Ala96Gly) | dbSNP gnomAD v4 |
| 1 | g.115744860G= | CA1190732246 | CASQ2 | c.11C= (p.Ala4=) c.287C= (p.Ala96=) | |
| 1 | g.115744860G>T | CA341765369 | CASQ2 | c.11C>A (p.Ala4Asp) c.287C>A (p.Ala96Asp) | |
| 1 | g.115744861C>A | CA341765371 | CASQ2 | c.10G>T (p.Ala4Ser) c.286G>T (p.Ala96Ser) | |
| 1 | g.115744861C>G | CA341765373 | CASQ2 | c.10G>C (p.Ala4Pro) c.286G>C (p.Ala96Pro) | |
| 1 | g.115744861C>T | CA341765375 | CASQ2 | c.10G>A (p.Ala4Thr) c.286G>A (p.Ala96Thr) | ClinVar dbSNP |
| 1 | g.115744862A>C | CA341765378 | CASQ2 | c.9T>G (p.Asp3Glu) c.285T>G (p.Asp95Glu) | |
| 1 | g.115744862A>G | CA419895791 | CASQ2 | c.9T>C (p.Asp3=) c.285T>C (p.Asp95=) | |
| 1 | g.115744862A>T | CA341765380 | CASQ2 | c.9T>A (p.Asp3Glu) c.285T>A (p.Asp95Glu) | |
| 1 | g.115744863T>A | CA341765386 | CASQ2 | c.8A>T (p.Asp3Val) c.284A>T (p.Asp95Val) | gnomAD v4 |
| 1 | g.115744863T>C | CA341765384 | CASQ2 | c.8A>G (p.Asp3Gly) c.284A>G (p.Asp95Gly) | |
| 1 | g.115744863T>G | CA341765382 | CASQ2 | c.8A>C (p.Asp3Ala) c.284A>C (p.Asp95Ala) | |
| 1 | g.115744864C>A | CA341765388 | CASQ2 | c.7G>T (p.Asp3Tyr) c.283G>T (p.Asp95Tyr) | |
| 1 | g.115744864C>G | CA341765390 | CASQ2 | c.7G>C (p.Asp3His) c.283G>C (p.Asp95His) | gnomAD v4 |
| 1 | g.115744864C>T | CA341765392 | CASQ2 | c.7G>A (p.Asp3Asn) c.283G>A (p.Asp95Asn) | gnomAD v4 |
| 1 | g.115744865C>A | CA419895792 | CASQ2 | c.6G>T (p.Val2=) c.282G>T (p.Val94=) | |
| 1 | g.115744865C>G | CA419895793 | CASQ2 | c.6G>C (p.Val2=) c.282G>C (p.Val94=) | |
| 1 | g.115744865C>T | CA419895794 | CASQ2 | c.6G>A (p.Val2=) c.282G>A (p.Val94=) | |
| 1 | g.115744866A= | CA1190732247 | CASQ2 | c.5T= (p.Val2=) c.281T= (p.Val94=) | |
| 1 | g.115744866A>C | CA341765395 | CASQ2 | c.5T>G (p.Val2Gly) c.281T>G (p.Val94Gly) | |
| 1 | g.115744866A>G | CA1023959 | CASQ2 | c.5T>C (p.Val2Ala) c.281T>C (p.Val94Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744866A>T | CA341765398 | CASQ2 | c.5T>A (p.Val2Glu) c.281T>A (p.Val94Glu) | gnomAD v4 |
| 1 | g.115744867C>A | CA341765401 | CASQ2 | c.4G>T (p.Val2Leu) c.280G>T (p.Val94Leu) | |
| 1 | g.115744867C= | CA1190732248 | CASQ2 | c.4G= (p.Val2=) c.280G= (p.Val94=) | |
| 1 | g.115744867C>G | CA341765402 | CASQ2 | c.4G>C (p.Val2Leu) c.280G>C (p.Val94Leu) | |
| 1 | g.115744867C>T | CA341765405 | CASQ2 | c.4G>A (p.Val2Met) c.280G>A (p.Val94Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115744868C>A | CA341765407 | CASQ2 | c.3G>T (p.Met1Ile) c.279G>T (p.Met93Ile) | |
| 1 | g.115744868C>G | CA341765409 | CASQ2 | c.3G>C (p.Met1Ile) c.279G>C (p.Met93Ile) | |
| 1 | g.115744868C>T | CA341765412 | CASQ2 | c.3G>A (p.Met1Ile) c.279G>A (p.Met93Ile) | ClinVar gnomAD v4 |
| 1 | g.115744869A= | CA1190732249 | CASQ2 | c.2T= (p.Met1=) c.278T= (p.Met93=) | |
| 1 | g.115744869A>C | CA341765418 | CASQ2 | c.2T>G (p.Met1Arg) c.278T>G (p.Met93Arg) | |
| 1 | g.115744869A>G | CA341765416 | CASQ2 | c.2T>C (p.Met1Thr) c.278T>C (p.Met93Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744869A>T | CA341765414 | CASQ2 | c.2T>A (p.Met1Lys) c.278T>A (p.Met93Lys) | |
| 1 | g.115744870T>A | CA341765420 | CASQ2 | c.1A>T (p.Met1Leu) c.277A>T (p.Met93Leu) | |
| 1 | g.115744870T>C | CA341765422 | CASQ2 | c.1A>G (p.Met1Val) c.277A>G (p.Met93Val) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115744870T>G | CA341765424 | CASQ2 | c.1A>C (p.Met1Leu) c.277A>C (p.Met93Leu) | |
| 1 | g.115744870T= | CA1190732250 | CASQ2 | c.1A= (p.Met1=) c.277A= (p.Met93=) | |
| 1 | g.115744871C>A | CA419895795 | CASQ2 | c.-1G>T (n.-1G>T) c.276G>T (p.Val92=) | |
| 1 | g.115744871C>G | CA419895797 | CASQ2 | c.-1G>C (n.-1G>C) c.276G>C (p.Val92=) | |
| 1 | g.115744871C>T | CA419895796 | CASQ2 | c.-1G>A (n.-1G>A) c.276G>A (p.Val92=) | |
| 1 | g.115744872A>C | CA341765426 | CASQ2 | c.-2T>G (n.-2T>G) c.275T>G (p.Val92Gly) | gnomAD v4 |
| 1 | g.115744872A>G | CA341765428 | CASQ2 | c.-2T>C (n.-2T>C) c.275T>C (p.Val92Ala) | |
| 1 | g.115744872A>T | CA341765429 | CASQ2 | c.-2T>A (n.-2T>A) c.275T>A (p.Val92Glu) | |
| 1 | g.115744873C>A | CA341765434 | CASQ2 | c.-3G>T (n.-3G>T) c.274G>T (p.Val92Leu) | |
| 1 | g.115744873C= | CA1190732251 | CASQ2 | c.-3G= (n.-3G=) c.274G= (p.Val92=) | |
| 1 | g.115744873C>G | CA341765431 | CASQ2 | c.-3G>C (n.-3G>C) c.274G>C (p.Val92Leu) | |
| 1 | g.115744873C>T | CA341765433 | CASQ2 | c.-3G>A (n.-3G>A) c.274G>A (p.Val92Met) | |
| 1 | g.115744874A= | CA1190732253 | CASQ2 | c.-4T= (n.-4T=) c.273T= (p.Phe91=) | |
| 1 | g.115744874A>C | CA341765437 | CASQ2 | c.-4T>G (n.-4T>G) c.273T>G (p.Phe91Leu) | dbSNP |
| 1 | g.115744874A>G | CA419895798 | CASQ2 | c.-4T>C (n.-4T>C) c.273T>C (p.Phe91=) | |
| 1 | g.115744874A>T | CA341765439 | CASQ2 | c.-4T>A (n.-4T>A) c.273T>A (p.Phe91Leu) | |
| 1 | g.115744876dup | CA1190732252 | CASQ2 | c.-4dup (n.-4dup) c.273dup (p.Val92CysfsTer18) | dbSNP |
| 1 | g.115744875A>C | CA341765440 | CASQ2 | c.-5T>G (n.-5T>G) c.272T>G (p.Phe91Cys) | |
| 1 | g.115744875A>G | CA341765442 | CASQ2 | c.-5T>C (n.-5T>C) c.272T>C (p.Phe91Ser) | |
| 1 | g.115744875A>T | CA341765444 | CASQ2 | c.-5T>A (n.-5T>A) c.272T>A (p.Phe91Tyr) | |
| 1 | g.115744876A= | CA1190732254 | CASQ2 | c.-6T= (n.-6T=) c.271T= (p.Phe91=) | |
| 1 | g.115744876A>C | CA341765446 | CASQ2 | c.-6T>G (n.-6T>G) c.271T>G (p.Phe91Val) | |
| 1 | g.115744876A>G | CA341765449 | CASQ2 | c.-6T>C (n.-6T>C) c.271T>C (p.Phe91Leu) | ClinVar dbSNP |
| 1 | g.115744876A>T | CA341765447 | CASQ2 | c.-6T>A (n.-6T>A) c.271T>A (p.Phe91Ile) | |
| 1 | g.115744877G>A | CA419895799 | CASQ2 | c.-7C>T (n.-7C>T) c.270C>T (p.Gly90=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115744877G>C | CA419895800 | CASQ2 | c.-7C>G (n.-7C>G) c.270C>G (p.Gly90=) | |
| 1 | g.115744877G= | CA1140803109 | CASQ2 | c.-7C= (n.-7C=) c.270C= (p.Gly90=) | |
| 1 | g.115744877G>T | CA181174 | CASQ2 | c.-7C>A (n.-7C>A) c.270C>A (p.Gly90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744878C>A | CA341765451 | CASQ2 | c.-8G>T (n.-8G>T) c.269G>T (p.Gly90Val) | gnomAD v4 |
| 1 | g.115744878C= | CA1149052943 | CASQ2 | c.-8G= (n.-8G=) c.269G= (p.Gly90=) | |
| 1 | g.115744878C>G | CA341765453 | CASQ2 | c.-8G>C (n.-8G>C) c.269G>C (p.Gly90Ala) | |
| 1 | g.115744878C>T | CA1023960 | CASQ2 | c.-8G>A (n.-8G>A) c.269G>A (p.Gly90Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115744878_115744879insTA | CA2580611476 | CASQ2 | c.-9_-8insTA (n.-9_-8insTA) c.268_269insTA (p.Gly90ValfsTer4) | ClinVar |
| 1 | g.115744879C>A | CA341765456 | CASQ2 | c.-9G>T (n.-9G>T) c.268G>T (p.Gly90Cys) | |
| 1 | g.115744879C= | CA1190732255 | CASQ2 | c.-9G= (n.-9G=) c.268G= (p.Gly90=) | |
| 1 | g.115744879C>G | CA341765458 | CASQ2 | c.-9G>C (n.-9G>C) c.268G>C (p.Gly90Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115744879C>T | CA341765459 | CASQ2 | c.-9G>A (n.-9G>A) c.268G>A (p.Gly90Ser) | gnomAD v2 |
| 1 | g.115744880T>A | CA419895802 | CASQ2 | c.-10A>T (n.-10A>T) c.267A>T (p.Ile89=) | |
| 1 | g.115744880T>C | CA341765461 | CASQ2 | c.-10A>G (n.-10A>G) c.267A>G (p.Ile89Met) | |
| 1 | g.115744880T>G | CA419895801 | CASQ2 | c.-10A>C (n.-10A>C) c.267A>C (p.Ile89=) | |
| 1 | g.115744882_115744883dup | CA525429590 | CASQ2 | c.-11_-10dup (n.-11_-10dup) c.266_267dup (p.Gly90Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744881A>C | CA341765463 | CASQ2 | c.-11T>G (n.-11T>G) c.266T>G (p.Ile89Arg) | |
| 1 | g.115744881A>G | CA341765465 | CASQ2 | c.-11T>C (n.-11T>C) c.266T>C (p.Ile89Thr) | |
| 1 | g.115744881A>T | CA341765466 | CASQ2 | c.-11T>A (n.-11T>A) c.266T>A (p.Ile89Lys) | |
| 1 | g.115744882T>A | CA341765471 | CASQ2 | c.-12A>T (n.-12A>T) c.265A>T (p.Ile89Leu) | |
| 1 | g.115744882T>C | CA1023961 | CASQ2 | c.-12A>G (n.-12A>G) c.265A>G (p.Ile89Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744882T>G | CA341765468 | CASQ2 | c.-12A>C (n.-12A>C) c.265A>C (p.Ile89Leu) | |
| 1 | g.115744882T= | CA1143611314 | CASQ2 | c.-12A= (n.-12A=) c.265A= (p.Ile89=) | |
| 1 | g.115744883A= | CA1190732256 | CASQ2 | c.-13T= (n.-13T=) c.264T= (p.Ala88=) | |
| 1 | g.115744883A>C | CA419895803 | CASQ2 | c.-13T>G (n.-13T>G) c.264T>G (p.Ala88=) | |
| 1 | g.115744883A>G | CA419895804 | CASQ2 | c.-13T>C (n.-13T>C) c.264T>C (p.Ala88=) | |
| 1 | g.115744883A>T | CA419895805 | CASQ2 | c.-13T>A (n.-13T>A) c.264T>A (p.Ala88=) | dbSNP |
| 1 | g.115744884G>A | CA341765475 | CASQ2 | c.-14C>T (n.-14C>T) c.263C>T (p.Ala88Val) | |
| 1 | g.115744884G>C | CA341765473 | CASQ2 | c.-14C>G (n.-14C>G) c.263C>G (p.Ala88Gly) | |
| 1 | g.115744884G>T | CA341765477 | CASQ2 | c.-14C>A (n.-14C>A) c.263C>A (p.Ala88Asp) | |
| 1 | g.115744885C>A | CA341765478 | CASQ2 | c.-15G>T (n.-15G>T) c.262G>T (p.Ala88Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115744885C= | CA1190732257 | CASQ2 | c.-15G= (n.-15G=) c.262G= (p.Ala88=) | |
| 1 | g.115744885C>G | CA341765480 | CASQ2 | c.-15G>C (n.-15G>C) c.262G>C (p.Ala88Pro) | |
| 1 | g.115744885C>T | CA341765482 | CASQ2 | c.-15G>A (n.-15G>A) c.262G>A (p.Ala88Thr) | |
| 1 | g.115744886T>A | CA341765484 | CASQ2 | c.-16A>T (n.-16A>T) c.261A>T (p.Lys87Asn) | |
| 1 | g.115744886T>C | CA419895806 | CASQ2 | c.-16A>G (n.-16A>G) c.261A>G (p.Lys87=) | gnomAD v4 |
| 1 | g.115744886T>G | CA341765485 | CASQ2 | c.-16A>C (n.-16A>C) c.261A>C (p.Lys87Asn) | |
| 1 | g.115744888dup | CA2580060848 | CASQ2 | c.-16dup (n.-16dup) c.261dup (p.Ala88SerfsTer22) | ClinVar |
| 1 | g.115744887_115744888dup | CA885953546 | CASQ2 | c.-17_-16dup (n.-17_-16dup) c.260_261dup (p.Ala88LysfsTer3) | dbSNP |
| 1 | g.115744887T>A | CA341765487 | CASQ2 | c.-17A>T (n.-17A>T) c.260A>T (p.Lys87Ile) | |
| 1 | g.115744887T>C | CA341765489 | CASQ2 | c.-17A>G (n.-17A>G) c.260A>G (p.Lys87Arg) | |
| 1 | g.115744887T>G | CA341765491 | CASQ2 | c.-17A>C (n.-17A>C) c.260A>C (p.Lys87Thr) | COSMIC |
| 1 | g.115744888T>A | CA341765492 | CASQ2 | c.-18A>T (n.-18A>T) c.259A>T (p.Lys87Ter) | |
| 1 | g.115744888T>C | CA341765494 | CASQ2 | c.-18A>G (n.-18A>G) c.259A>G (p.Lys87Glu) | |
| 1 | g.115744888T>G | CA341765496 | CASQ2 | c.-18A>C (n.-18A>C) c.259A>C (p.Lys87Gln) | |
| 1 | g.115744889A>C | CA341765498 | CASQ2 | c.-19T>G (n.-19T>G) c.258T>G (p.His86Gln) | ClinVar gnomAD v4 |
| 1 | g.115744889A>G | CA419895807 | CASQ2 | c.-19T>C (n.-19T>C) c.258T>C (p.His86=) | gnomAD v4 |
| 1 | g.115744889A>T | CA341765499 | CASQ2 | c.-19T>A (n.-19T>A) c.258T>A (p.His86Gln) | |
| 1 | g.115744890T>A | CA341765503 | CASQ2 | c.-20A>T (n.-20A>T) c.257A>T (p.His86Leu) | |
| 1 | g.115744890T>C | CA1023962 | CASQ2 | c.-20A>G (n.-20A>G) c.257A>G (p.His86Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744890T>G | CA341765502 | CASQ2 | c.-20A>C (n.-20A>C) c.257A>C (p.His86Pro) | |
| 1 | g.115744890T= | CA1143872157 | CASQ2 | c.-20A= (n.-20A=) c.257A= (p.His86=) | |
| 1 | g.115744891G>A | CA341765506 | CASQ2 | c.-21C>T (n.-21C>T) c.256C>T (p.His86Tyr) | gnomAD v4 |
| 1 | g.115744891G>C | CA341765508 | CASQ2 | c.-21C>G (n.-21C>G) c.256C>G (p.His86Asp) | |
| 1 | g.115744891G>T | CA341765510 | CASQ2 | c.-21C>A (n.-21C>A) c.256C>A (p.His86Asn) | |
| 1 | g.115744892T>A | CA341765512 | CASQ2 | c.-22A>T (n.-22A>T) c.255A>T (p.Glu85Asp) | |
| 1 | g.115744892T>C | CA419895808 | CASQ2 | c.-22A>G (n.-22A>G) c.255A>G (p.Glu85=) | |
| 1 | g.115744892T>G | CA341765514 | CASQ2 | c.-22A>C (n.-22A>C) c.255A>C (p.Glu85Asp) | |
| 1 | g.115744893T>A | CA341765515 | CASQ2 | c.-23A>T (n.-23A>T) c.254A>T (p.Glu85Val) | |
| 1 | g.115744893T>C | CA341765516 | CASQ2 | c.-23A>G (n.-23A>G) c.254A>G (p.Glu85Gly) | |
| 1 | g.115744893T>G | CA341765517 | CASQ2 | c.-23A>C (n.-23A>C) c.254A>C (p.Glu85Ala) | |
| 1 | g.115744894C>A | CA341765518 | CASQ2 | c.-24G>T (n.-24G>T) c.253G>T (p.Glu85Ter) | |
| 1 | g.115744894C>G | CA341765519 | CASQ2 | c.-24G>C (n.-24G>C) c.253G>C (p.Glu85Gln) | |
| 1 | g.115744894C>T | CA341765520 | CASQ2 | c.-24G>A (n.-24G>A) c.253G>A (p.Glu85Lys) | |
| 1 | g.115744895A>C | CA419895811 | CASQ2 | c.-25T>G (n.-25T>G) c.252T>G (p.Leu84=) | |
| 1 | g.115744895A>G | CA419895810 | CASQ2 | c.-25T>C (n.-25T>C) c.252T>C (p.Leu84=) | |
| 1 | g.115744895A>T | CA419895809 | CASQ2 | c.-25T>A (n.-25T>A) c.252T>A (p.Leu84=) | |
| 1 | g.115744896A>C | CA341765523 | CASQ2 | c.-26T>G (n.-26T>G) c.251T>G (p.Leu84Arg) | |
| 1 | g.115744896A>G | CA341765522 | CASQ2 | c.-26T>C (n.-26T>C) c.251T>C (p.Leu84Pro) | gnomAD v4 |
| 1 | g.115744896A>T | CA341765521 | CASQ2 | c.-26T>A (n.-26T>A) c.251T>A (p.Leu84His) | |
| 1 | g.115744897G>A | CA341765524 | CASQ2 | c.-27C>T (n.-27C>T) c.250C>T (p.Leu84Phe) | ClinVar dbSNP |
| 1 | g.115744897G>C | CA341765525 | CASQ2 | c.-27C>G (n.-27C>G) c.250C>G (p.Leu84Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744897G= | CA1190732258 | CASQ2 | c.-27C= (n.-27C=) c.250C= (p.Leu84=) | |
| 1 | g.115744897G>T | CA341765526 | CASQ2 | c.-27C>A (n.-27C>A) c.250C>A (p.Leu84Ile) | |
| 1 | g.115744898G>A | CA419895812 | CASQ2 | c.-28C>T (n.-28C>T) c.249C>T (p.Val83=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744898G>C | CA419895813 | CASQ2 | c.-28C>G (n.-28C>G) c.249C>G (p.Val83=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115744898G= | CA1190732259 | CASQ2 | c.-28C= (n.-28C=) c.249C= (p.Val83=) | |
| 1 | g.115744898G>T | CA419895814 | CASQ2 | c.-28C>A (n.-28C>A) c.249C>A (p.Val83=) | |
| 1 | g.115744899A>C | CA341765527 | CASQ2 | c.-29T>G (n.-29T>G) c.248T>G (p.Val83Gly) | |
| 1 | g.115744899A>G | CA341765528 | CASQ2 | c.-29T>C (n.-29T>C) c.248T>C (p.Val83Ala) | |
| 1 | g.115744899A>T | CA341765529 | CASQ2 | c.-29T>A (n.-29T>A) c.248T>A (p.Val83Asp) | |
| 1 | g.115744900C>A | CA341765532 | CASQ2 | c.-30G>T (n.-30G>T) c.247G>T (p.Val83Phe) | |
| 1 | g.115744900C>G | CA341765530 | CASQ2 | c.-30G>C (n.-30G>C) c.247G>C (p.Val83Leu) | |
| 1 | g.115744900C>T | CA341765531 | CASQ2 | c.-30G>A (n.-30G>A) c.247G>A (p.Val83Ile) | |
| 1 | g.115744902_115744907del | CA2647280503 | CASQ2 | c.-35_-30del (n.-35_-30del) c.242_247del (p.Ala81_Gln82del) | gnomAD v4 |
| 1 | g.115744901C>A | CA341765533 | CASQ2 | c.-31G>T (n.-31G>T) c.246G>T (p.Gln82His) | |
| 1 | g.115744901C= | CA1190732260 | CASQ2 | c.-31G= (n.-31G=) c.246G= (p.Gln82=) | |
| 1 | g.115744901C>G | CA29609794 | CASQ2 | c.-31G>C (n.-31G>C) c.246G>C (p.Gln82His) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.115744901C>T | CA419895815 | CASQ2 | c.-31G>A (n.-31G>A) c.246G>A (p.Gln82=) | gnomAD v3 gnomAD v4 |
| 1 | g.115744902T>A | CA341765534 | CASQ2 | c.-32A>T (n.-32A>T) c.245A>T (p.Gln82Leu) | |
| 1 | g.115744902T>C | CA1023963 | CASQ2 | c.-32A>G (n.-32A>G) c.245A>G (p.Gln82Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744902T>G | CA341765535 | CASQ2 | c.-32A>C (n.-32A>C) c.245A>C (p.Gln82Pro) | |
| 1 | g.115744902T= | CA1148473866 | CASQ2 | c.-32A= (n.-32A=) c.245A= (p.Gln82=) | |
| 1 | g.115744903G>A | CA341765536 | CASQ2 | c.-33C>T (n.-33C>T) c.244C>T (p.Gln82Ter) | ClinVar gnomAD v4 |
| 1 | g.115744903G>C | CA341765538 | CASQ2 | c.-33C>G (n.-33C>G) c.244C>G (p.Gln82Glu) | |
| 1 | g.115744903G>T | CA341765537 | CASQ2 | c.-33C>A (n.-33C>A) c.244C>A (p.Gln82Lys) | |
| 1 | g.115744904G>A | CA419895816 | CASQ2 | c.-34C>T (n.-34C>T) c.243C>T (p.Ala81=) | |
| 1 | g.115744904G>C | CA419895817 | CASQ2 | c.-34C>G (n.-34C>G) c.243C>G (p.Ala81=) | |
| 1 | g.115744904G>T | CA419895818 | CASQ2 | c.-34C>A (n.-34C>A) c.243C>A (p.Ala81=) | |
| 1 | g.115744905G>A | CA341765539 | CASQ2 | c.-35C>T (n.-35C>T) c.242C>T (p.Ala81Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115744905G>C | CA341765540 | CASQ2 | c.-35C>G (n.-35C>G) c.242C>G (p.Ala81Gly) | |
| 1 | g.115744905G= | CA1190732261 | CASQ2 | c.-35C= (n.-35C=) c.242C= (p.Ala81=) | |
| 1 | g.115744905G>T | CA341765541 | CASQ2 | c.-35C>A (n.-35C>A) c.242C>A (p.Ala81Asp) | |
| 1 | g.115744906C>A | CA341765542 | CASQ2 | c.-36G>T (n.-36G>T) c.241G>T (p.Ala81Ser) | COSMIC |
| 1 | g.115744906C= | CA1190732262 | CASQ2 | c.-36G= (n.-36G=) c.241G= (p.Ala81=) | |
| 1 | g.115744906C>G | CA341765543 | CASQ2 | c.-36G>C (n.-36G>C) c.241G>C (p.Ala81Pro) | |
| 1 | g.115744906C>T | CA341765544 | CASQ2 | c.-36G>A (n.-36G>A) c.241G>A (p.Ala81Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115744907dup | CA2647280505 | CASQ2 | c.-36dup (n.-36dup) c.241dup (p.Ala81GlyfsTer5) | gnomAD v4 |
| 1 | g.115744907del | CA2647280504 | CASQ2 | c.-36del (n.-36del) c.241del (p.Ala81ProfsTer9) | gnomAD v4 |
| 1 | g.115744907C>A | CA419895819 | CASQ2 | c.-37G>T (n.-37G>T) c.240G>T (p.Val80=) | ClinVar |
| 1 | g.115744907C>G | CA419895820 | CASQ2 | c.-37G>C (n.-37G>C) c.240G>C (p.Val80=) | |
| 1 | g.115744907C>T | CA419895821 | CASQ2 | c.-37G>A (n.-37G>A) c.240G>A (p.Val80=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115744908A>C | CA341765545 | CASQ2 | c.-38T>G (n.-38T>G) c.239T>G (p.Val80Gly) | |
| 1 | g.115744908A>G | CA341765546 | CASQ2 | c.-38T>C (n.-38T>C) c.239T>C (p.Val80Ala) | |
| 1 | g.115744908A>T | CA341765547 | CASQ2 | c.-38T>A (n.-38T>A) c.239T>A (p.Val80Glu) | |
| 1 | g.115744909C>A | CA341765548 | CASQ2 | c.-39G>T (n.-39G>T) c.238G>T (p.Val80Leu) | |
| 1 | g.115744909C>G | CA341765549 | CASQ2 | c.-39G>C (n.-39G>C) c.238G>C (p.Val80Leu) | |
| 1 | g.115744909C>T | CA341765550 | CASQ2 | c.-39G>A (n.-39G>A) c.238G>A (p.Val80Met) | |
| 1 | g.115744910A= | CA1190732263 | CASQ2 | c.-40T= (n.-40T=) c.237T= (p.Leu79=) | |
| 1 | g.115744910A>C | CA419895823 | CASQ2 | c.-40T>G (n.-40T>G) c.237T>G (p.Leu79=) | dbSNP |
| 1 | g.115744910A>G | CA419895824 | CASQ2 | c.-40T>C (n.-40T>C) c.237T>C (p.Leu79=) | |
| 1 | g.115744910A>T | CA419895825 | CASQ2 | c.-40T>A (n.-40T>A) c.237T>A (p.Leu79=) | |
| 1 | g.115744911A>C | CA341765552 | CASQ2 | c.-41T>G (n.-41T>G) c.236T>G (p.Leu79Arg) | COSMIC |
| 1 | g.115744911A>G | CA341765553 | CASQ2 | c.-41T>C (n.-41T>C) c.236T>C (p.Leu79Pro) | |
| 1 | g.115744911A>T | CA341765551 | CASQ2 | c.-41T>A (n.-41T>A) c.236T>A (p.Leu79His) | |
| 1 | g.115744912G>A | CA1023964 | CASQ2 | c.-42C>T (n.-42C>T) c.235C>T (p.Leu79Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115744912G>C | CA341765555 | CASQ2 | c.-42C>G (n.-42C>G) c.235C>G (p.Leu79Val) | |
| 1 | g.115744912G= | CA1190732264 | CASQ2 | c.-42C= (n.-42C=) c.235C= (p.Leu79=) | |
| 1 | g.115744912G>T | CA341765554 | CASQ2 | c.-42C>A (n.-42C>A) c.235C>A (p.Leu79Ile) | gnomAD v4 |
| 1 | g.115744913C>A | CA341765556 | CASQ2 | c.-42-1G>T (n.-42-1G>T) c.235-1G>T (n.235-1G>T) | |
| 1 | g.115744913C>G | CA341765558 | CASQ2 | c.-42-1G>C (n.-42-1G>C) c.235-1G>C (n.235-1G>C) | |
| 1 | g.115744913C>T | CA341765557 | CASQ2 | c.-42-1G>A (n.-42-1G>A) c.235-1G>A (n.235-1G>A) | |
| 1 | g.115744914T>A | CA341765559 | CASQ2 | c.-42-2A>T (n.-42-2A>T) c.235-2A>T (n.235-2A>T) | |
| 1 | g.115744914T>C | CA16609862 | CASQ2 | c.-42-2A>G (n.-42-2A>G) c.235-2A>G (n.235-2A>G) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115744914T>G | CA341765560 | CASQ2 | c.-42-2A>C (n.-42-2A>C) c.235-2A>C (n.235-2A>C) | |
| 1 | g.115744914T= | CA1190732265 | CASQ2 | c.-42-2A= (n.-42-2A=) c.235-2A= (n.235-2A=) | |
| 1 | g.115744915G>A | CA525429591 | CASQ2 | c.-42-3C>T (n.-42-3C>T) c.235-3C>T (n.235-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115744915G= | CA1190732266 | CASQ2 | c.-42-3C= (n.-42-3C=) c.235-3C= (n.235-3C=) |