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.181724499G>A | CA33822752 | CACNA1E | c.2104G>A (p.Ala702Thr) c.2539G>A (p.Ala847Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724499G>C | CA343628403 | CACNA1E | c.2104G>C (p.Ala702Pro) c.2539G>C (p.Ala847Pro) | ClinVar dbSNP |
| 1 | g.181724499G= | CA1140375258 | CACNA1E | c.2104G= (p.Ala702=) c.2539G= (p.Ala847=) | |
| 1 | g.181724499G>T | CA343628404 | CACNA1E | c.2104G>T (p.Ala702Ser) c.2539G>T (p.Ala847Ser) | ClinVar |
| 1 | g.181724500C>A | CA343628407 | CACNA1E | c.2105C>A (p.Ala702Asp) c.2540C>A (p.Ala847Asp) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724500C= | CA1211204947 | CACNA1E | c.2105C= (p.Ala702=) c.2540C= (p.Ala847=) | |
| 1 | g.181724500C>G | CA343628406 | CACNA1E | c.2105C>G (p.Ala702Gly) c.2540C>G (p.Ala847Gly) | |
| 1 | g.181724500C>T | CA343628405 | CACNA1E | c.2105C>T (p.Ala702Val) c.2540C>T (p.Ala847Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724501T>A | CA422073251 | CACNA1E | c.2106T>A (p.Ala702=) c.2541T>A (p.Ala847=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.181724501T>C | CA422073248 | CACNA1E | c.2106T>C (p.Ala702=) c.2541T>C (p.Ala847=) | gnomAD v4 |
| 1 | g.181724501T>G | CA422073249 | CACNA1E | c.2106T>G (p.Ala702=) c.2541T>G (p.Ala847=) | |
| 1 | g.181724501T= | CA1211204957 | CACNA1E | c.2106T= (p.Ala702=) c.2541T= (p.Ala847=) | |
| 1 | g.181724502G>A | CA343628408 | CACNA1E | c.2107G>A (p.Val703Met) c.2542G>A (p.Val848Met) | |
| 1 | g.181724502G>C | CA343628409 | CACNA1E | c.2107G>C (p.Val703Leu) c.2542G>C (p.Val848Leu) | |
| 1 | g.181724502G>T | CA343628410 | CACNA1E | c.2107G>T (p.Val703Leu) c.2542G>T (p.Val848Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724503T>A | CA343628411 | CACNA1E | c.2108T>A (p.Val703Glu) c.2543T>A (p.Val848Glu) | |
| 1 | g.181724503T>C | CA343628412 | CACNA1E | c.2108T>C (p.Val703Ala) c.2543T>C (p.Val848Ala) | |
| 1 | g.181724503T>G | CA343628413 | CACNA1E | c.2108T>G (p.Val703Gly) c.2543T>G (p.Val848Gly) | ClinVar dbSNP |
| 1 | g.181724503T= | CA1211204964 | CACNA1E | c.2108T= (p.Val703=) c.2543T= (p.Val848=) | |
| 1 | g.181724504G>A | CA1275257 | CACNA1E | c.2109G>A (p.Val703=) c.2544G>A (p.Val848=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.181724504G>C | CA422073264 | CACNA1E | c.2109G>C (p.Val703=) c.2544G>C (p.Val848=) | |
| 1 | g.181724504G= | CA1211204970 | CACNA1E | c.2109G= (p.Val703=) c.2544G= (p.Val848=) | |
| 1 | g.181724504G>T | CA422073262 | CACNA1E | c.2109G>T (p.Val703=) c.2544G>T (p.Val848=) | |
| 1 | g.181724505G>A | CA343628414 | CACNA1E | c.2110G>A (p.Asp704Asn) c.2545G>A (p.Asp849Asn) | |
| 1 | g.181724505G>C | CA343628415 | CACNA1E | c.2110G>C (p.Asp704His) c.2545G>C (p.Asp849His) | |
| 1 | g.181724505G>T | CA343628416 | CACNA1E | c.2110G>T (p.Asp704Tyr) c.2545G>T (p.Asp849Tyr) | |
| 1 | g.181724506A>C | CA343628417 | CACNA1E | c.2111A>C (p.Asp704Ala) c.2546A>C (p.Asp849Ala) | |
| 1 | g.181724506A>G | CA343628418 | CACNA1E | c.2111A>G (p.Asp704Gly) c.2546A>G (p.Asp849Gly) | |
| 1 | g.181724506A>T | CA343628419 | CACNA1E | c.2111A>T (p.Asp704Val) c.2546A>T (p.Asp849Val) | |
| 1 | g.181724507T>A | CA343628420 | CACNA1E | c.2112T>A (p.Asp704Glu) c.2547T>A (p.Asp849Glu) | |
| 1 | g.181724507T>C | CA422073271 | CACNA1E | c.2112T>C (p.Asp704=) c.2547T>C (p.Asp849=) | |
| 1 | g.181724507T>G | CA343628421 | CACNA1E | c.2112T>G (p.Asp704Glu) c.2547T>G (p.Asp849Glu) | |
| 1 | g.181724508A>C | CA343628422 | CACNA1E | c.2113A>C (p.Asn705His) c.2548A>C (p.Asn850His) | |
| 1 | g.181724508A>G | CA343628423 | CACNA1E | c.2113A>G (p.Asn705Asp) c.2548A>G (p.Asn850Asp) | |
| 1 | g.181724508A>T | CA343628424 | CACNA1E | c.2113A>T (p.Asn705Tyr) c.2548A>T (p.Asn850Tyr) | |
| 1 | g.181724509A>C | CA343628425 | CACNA1E | c.2114A>C (p.Asn705Thr) c.2549A>C (p.Asn850Thr) | |
| 1 | g.181724509A>G | CA343628426 | CACNA1E | c.2114A>G (p.Asn705Ser) c.2549A>G (p.Asn850Ser) | |
| 1 | g.181724509A>T | CA343628427 | CACNA1E | c.2114A>T (p.Asn705Ile) c.2549A>T (p.Asn850Ile) | |
| 1 | g.181724510T>A | CA343628428 | CACNA1E | c.2115T>A (p.Asn705Lys) c.2550T>A (p.Asn850Lys) | |
| 1 | g.181724510T>C | CA422073282 | CACNA1E | c.2115T>C (p.Asn705=) c.2550T>C (p.Asn850=) | |
| 1 | g.181724510T>G | CA343628429 | CACNA1E | c.2115T>G (p.Asn705Lys) c.2550T>G (p.Asn850Lys) | |
| 1 | g.181724511C>A | CA343628430 | CACNA1E | c.2116C>A (p.Leu706Ile) c.2551C>A (p.Leu851Ile) | |
| 1 | g.181724511C>G | CA343628431 | CACNA1E | c.2116C>G (p.Leu706Val) c.2551C>G (p.Leu851Val) | |
| 1 | g.181724511C>T | CA343628432 | CACNA1E | c.2116C>T (p.Leu706Phe) c.2551C>T (p.Leu851Phe) | |
| 1 | g.181724512T>A | CA343628433 | CACNA1E | c.2117T>A (p.Leu706His) c.2552T>A (p.Leu851His) | |
| 1 | g.181724512T>C | CA343628434 | CACNA1E | c.2117T>C (p.Leu706Pro) c.2552T>C (p.Leu851Pro) | |
| 1 | g.181724512T>G | CA343628435 | CACNA1E | c.2117T>G (p.Leu706Arg) c.2552T>G (p.Leu851Arg) | |
| 1 | g.181724513C>A | CA422073288 | CACNA1E | c.2118C>A (p.Leu706=) c.2553C>A (p.Leu851=) | |
| 1 | g.181724513C= | CA1148473023 | CACNA1E | c.2118C= (p.Leu706=) c.2553C= (p.Leu851=) | |
| 1 | g.181724513C>G | CA422073289 | CACNA1E | c.2118C>G (p.Leu706=) c.2553C>G (p.Leu851=) | |
| 1 | g.181724513C>T | CA1275258 | CACNA1E | c.2118C>T (p.Leu706=) c.2553C>T (p.Leu851=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724514G>A | CA343628436 | CACNA1E | c.2119G>A (p.Ala707Thr) c.2554G>A (p.Ala852Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.181724514G>C | CA343628437 | CACNA1E | c.2119G>C (p.Ala707Pro) c.2554G>C (p.Ala852Pro) | |
| 1 | g.181724514G= | CA1211204982 | CACNA1E | c.2119G= (p.Ala707=) c.2554G= (p.Ala852=) | |
| 1 | g.181724514G>T | CA343628438 | CACNA1E | c.2119G>T (p.Ala707Ser) c.2554G>T (p.Ala852Ser) | |
| 1 | g.181724515C>A | CA343628439 | CACNA1E | c.2120C>A (p.Ala707Asp) c.2555C>A (p.Ala852Asp) | |
| 1 | g.181724515C>G | CA343628440 | CACNA1E | c.2120C>G (p.Ala707Gly) c.2555C>G (p.Ala852Gly) | |
| 1 | g.181724515C>T | CA343628441 | CACNA1E | c.2120C>T (p.Ala707Val) c.2555C>T (p.Ala852Val) | |
| 1 | g.181724516C>A | CA422073296 | CACNA1E | c.2121C>A (p.Ala707=) c.2556C>A (p.Ala852=) | gnomAD v4 COSMIC |
| 1 | g.181724516C>G | CA422073298 | CACNA1E | c.2121C>G (p.Ala707=) c.2556C>G (p.Ala852=) | |
| 1 | g.181724516C>T | CA422073300 | CACNA1E | c.2121C>T (p.Ala707=) c.2556C>T (p.Ala852=) | |
| 1 | g.181724517A>C | CA343628442 | CACNA1E | c.2122A>C (p.Asn708His) c.2557A>C (p.Asn853His) | |
| 1 | g.181724517A>G | CA343628443 | CACNA1E | c.2122A>G (p.Asn708Asp) c.2557A>G (p.Asn853Asp) | |
| 1 | g.181724517A>T | CA343628444 | CACNA1E | c.2122A>T (p.Asn708Tyr) c.2557A>T (p.Asn853Tyr) | |
| 1 | g.181724518A>C | CA343628445 | CACNA1E | c.2123A>C (p.Asn708Thr) c.2558A>C (p.Asn853Thr) | |
| 1 | g.181724518A>G | CA343628446 | CACNA1E | c.2123A>G (p.Asn708Ser) c.2558A>G (p.Asn853Ser) | |
| 1 | g.181724518A>T | CA343628447 | CACNA1E | c.2123A>T (p.Asn708Ile) c.2558A>T (p.Asn853Ile) | |
| 1 | g.181724519C>A | CA343628448 | CACNA1E | c.2124C>A (p.Asn708Lys) c.2559C>A (p.Asn853Lys) | |
| 1 | g.181724519C= | CA1143873462 | CACNA1E | c.2124C= (p.Asn708=) c.2559C= (p.Asn853=) | |
| 1 | g.181724519C>G | CA343628449 | CACNA1E | c.2124C>G (p.Asn708Lys) c.2559C>G (p.Asn853Lys) | |
| 1 | g.181724519C>T | CA1275259 | CACNA1E | c.2124C>T (p.Asn708=) c.2559C>T (p.Asn853=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.181724520G>A | CA1275260 | CACNA1E | c.2125G>A (p.Ala709Thr) c.2560G>A (p.Ala854Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724520G>C | CA343628451 | CACNA1E | c.2125G>C (p.Ala709Pro) c.2560G>C (p.Ala854Pro) | |
| 1 | g.181724520G= | CA1211204991 | CACNA1E | c.2125G= (p.Ala709=) c.2560G= (p.Ala854=) | |
| 1 | g.181724520G>T | CA343628450 | CACNA1E | c.2125G>T (p.Ala709Ser) c.2560G>T (p.Ala854Ser) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724521C>A | CA343628452 | CACNA1E | c.2126C>A (p.Ala709Asp) c.2561C>A (p.Ala854Asp) | |
| 1 | g.181724521C>G | CA343628454 | CACNA1E | c.2126C>G (p.Ala709Gly) c.2561C>G (p.Ala854Gly) | |
| 1 | g.181724521C>T | CA343628453 | CACNA1E | c.2126C>T (p.Ala709Val) c.2561C>T (p.Ala854Val) | |
| 1 | g.181724522C>A | CA422073313 | CACNA1E | c.2127C>A (p.Ala709=) c.2562C>A (p.Ala854=) | |
| 1 | g.181724522C>G | CA422073316 | CACNA1E | c.2127C>G (p.Ala709=) c.2562C>G (p.Ala854=) | |
| 1 | g.181724522C>T | CA422073314 | CACNA1E | c.2127C>T (p.Ala709=) c.2562C>T (p.Ala854=) | |
| 1 | g.181724523C>A | CA343628455 | CACNA1E | c.2128C>A (p.Gln710Lys) c.2563C>A (p.Gln855Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.181724523C= | CA1211204996 | CACNA1E | c.2128C= (p.Gln710=) c.2563C= (p.Gln855=) | |
| 1 | g.181724523C>G | CA343628457 | CACNA1E | c.2128C>G (p.Gln710Glu) c.2563C>G (p.Gln855Glu) | gnomAD v4 |
| 1 | g.181724523C>T | CA343628456 | CACNA1E | c.2128C>T (p.Gln710Ter) c.2563C>T (p.Gln855Ter) | |
| 1 | g.181724524A>C | CA343628458 | CACNA1E | c.2129A>C (p.Gln710Pro) c.2564A>C (p.Gln855Pro) | |
| 1 | g.181724524A>G | CA343628459 | CACNA1E | c.2129A>G (p.Gln710Arg) c.2564A>G (p.Gln855Arg) | |
| 1 | g.181724524A>T | CA343628460 | CACNA1E | c.2129A>T (p.Gln710Leu) c.2564A>T (p.Gln855Leu) | |
| 1 | g.181724525G>A | CA422073321 | CACNA1E | c.2130G>A (p.Gln710=) c.2565G>A (p.Gln855=) | |
| 1 | g.181724525G>C | CA343628461 | CACNA1E | c.2130G>C (p.Gln710His) c.2565G>C (p.Gln855His) | |
| 1 | g.181724525G>T | CA343628462 | CACNA1E | c.2130G>T (p.Gln710His) c.2565G>T (p.Gln855His) | |
| 1 | g.181724526G>A | CA343628463 | CACNA1E | c.2131G>A (p.Glu711Lys) c.2566G>A (p.Glu856Lys) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724526G>C | CA343628464 | CACNA1E | c.2131G>C (p.Glu711Gln) c.2566G>C (p.Glu856Gln) | |
| 1 | g.181724526G>T | CA343628465 | CACNA1E | c.2131G>T (p.Glu711Ter) c.2566G>T (p.Glu856Ter) | |
| 1 | g.181724527A>C | CA343628466 | CACNA1E | c.2132A>C (p.Glu711Ala) c.2567A>C (p.Glu856Ala) | gnomAD v4 |
| 1 | g.181724527A>G | CA343628467 | CACNA1E | c.2132A>G (p.Glu711Gly) c.2567A>G (p.Glu856Gly) | |
| 1 | g.181724527A>T | CA343628468 | CACNA1E | c.2132A>T (p.Glu711Val) c.2567A>T (p.Glu856Val) | |
| 1 | g.181724528A>C | CA343628470 | CACNA1E | c.2133A>C (p.Glu711Asp) c.2568A>C (p.Glu856Asp) | |
| 1 | g.181724528A>G | CA422073330 | CACNA1E | c.2133A>G (p.Glu711=) c.2568A>G (p.Glu856=) | |
| 1 | g.181724528A>T | CA343628469 | CACNA1E | c.2133A>T (p.Glu711Asp) c.2568A>T (p.Glu856Asp) | |
| 1 | g.181724529C>A | CA343628471 | CACNA1E | c.2134C>A (p.Leu712Met) c.2569C>A (p.Leu857Met) | |
| 1 | g.181724529C>G | CA343628472 | CACNA1E | c.2134C>G (p.Leu712Val) c.2569C>G (p.Leu857Val) | |
| 1 | g.181724529C>T | CA422073334 | CACNA1E | c.2134C>T (p.Leu712=) c.2569C>T (p.Leu857=) | COSMIC COSMIC COSMIC |
| 1 | g.181724530T>A | CA343628473 | CACNA1E | c.2135T>A (p.Leu712Gln) c.2570T>A (p.Leu857Gln) | |
| 1 | g.181724530T>C | CA343628474 | CACNA1E | c.2135T>C (p.Leu712Pro) c.2570T>C (p.Leu857Pro) | |
| 1 | g.181724530T>G | CA343628475 | CACNA1E | c.2135T>G (p.Leu712Arg) c.2570T>G (p.Leu857Arg) | |
| 1 | g.181724531G>A | CA422073340 | CACNA1E | c.2136G>A (p.Leu712=) c.2571G>A (p.Leu857=) | |
| 1 | g.181724531G>C | CA422073341 | CACNA1E | c.2136G>C (p.Leu712=) c.2571G>C (p.Leu857=) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724531G>T | CA422073338 | CACNA1E | c.2136G>T (p.Leu712=) c.2571G>T (p.Leu857=) | |
| 1 | g.181724532A>C | CA343628476 | CACNA1E | c.2137A>C (p.Thr713Pro) c.2572A>C (p.Thr858Pro) | |
| 1 | g.181724532A>G | CA343628477 | CACNA1E | c.2137A>G (p.Thr713Ala) c.2572A>G (p.Thr858Ala) | |
| 1 | g.181724532A>T | CA343628478 | CACNA1E | c.2137A>T (p.Thr713Ser) c.2572A>T (p.Thr858Ser) | |
| 1 | g.181724533C>A | CA343628479 | CACNA1E | c.2138C>A (p.Thr713Asn) c.2573C>A (p.Thr858Asn) | |
| 1 | g.181724533C>G | CA343628480 | CACNA1E | c.2138C>G (p.Thr713Ser) c.2573C>G (p.Thr858Ser) | |
| 1 | g.181724533C>T | CA343628481 | CACNA1E | c.2138C>T (p.Thr713Ile) c.2573C>T (p.Thr858Ile) | |
| 1 | g.181724534C>A | CA422073348 | CACNA1E | c.2139C>A (p.Thr713=) c.2574C>A (p.Thr858=) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC |
| 1 | g.181724534C>G | CA422073350 | CACNA1E | c.2139C>G (p.Thr713=) c.2574C>G (p.Thr858=) | gnomAD v4 |
| 1 | g.181724534C>T | CA422073351 | CACNA1E | c.2139C>T (p.Thr713=) c.2574C>T (p.Thr858=) | gnomAD v4 |
| 1 | g.181724535A>C | CA343628483 | CACNA1E | c.2140A>C (p.Lys714Gln) c.2575A>C (p.Lys859Gln) | |
| 1 | g.181724535A>G | CA343628484 | CACNA1E | c.2140A>G (p.Lys714Glu) c.2575A>G (p.Lys859Glu) | |
| 1 | g.181724535A>T | CA343628482 | CACNA1E | c.2140A>T (p.Lys714Ter) c.2575A>T (p.Lys859Ter) | |
| 1 | g.181724536A= | CA1148300222 | CACNA1E | c.2141A= (p.Lys714=) c.2576A= (p.Lys859=) | |
| 1 | g.181724536A>C | CA343628485 | CACNA1E | c.2141A>C (p.Lys714Thr) c.2576A>C (p.Lys859Thr) | |
| 1 | g.181724536A>G | CA1275261 | CACNA1E | c.2141A>G (p.Lys714Arg) c.2576A>G (p.Lys859Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.181724536A>T | CA343628486 | CACNA1E | c.2141A>T (p.Lys714Met) c.2576A>T (p.Lys859Met) | |
| 1 | g.181724537G>A | CA422073358 | CACNA1E | c.2142G>A (p.Lys714=) c.2577G>A (p.Lys859=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724537G>C | CA343628487 | CACNA1E | c.2142G>C (p.Lys714Asn) c.2577G>C (p.Lys859Asn) | |
| 1 | g.181724537G= | CA1211205000 | CACNA1E | c.2142G= (p.Lys714=) c.2577G= (p.Lys859=) | |
| 1 | g.181724537G>T | CA343628488 | CACNA1E | c.2142G>T (p.Lys714Asn) c.2577G>T (p.Lys859Asn) | |
| 1 | g.181724538G>A | CA343628489 | CACNA1E | c.2142+1G>A (n.2142+1G>A) c.2577+1G>A (n.2577+1G>A) | |
| 1 | g.181724538G>C | CA343628490 | CACNA1E | c.2142+1G>C (n.2142+1G>C) c.2577+1G>C (n.2577+1G>C) | |
| 1 | g.181724538G>T | CA343628491 | CACNA1E | c.2142+1G>T (n.2142+1G>T) c.2577+1G>T (n.2577+1G>T) | |
| 1 | g.181724539T>A | CA343628492 | CACNA1E | c.2142+2T>A (n.2142+2T>A) c.2577+2T>A (n.2577+2T>A) | |
| 1 | g.181724539T>C | CA343628493 | CACNA1E | c.2142+2T>C (n.2142+2T>C) c.2577+2T>C (n.2577+2T>C) | |
| 1 | g.181724539T>G | CA343628494 | CACNA1E | c.2142+2T>G (n.2142+2T>G) c.2577+2T>G (n.2577+2T>G) | |
| 1 | g.181724540A= | CA1211205003 | CACNA1E | c.2142+3A= (n.2142+3A=) c.2577+3A= (n.2577+3A=) | |
| 1 | g.181724540A>G | CA16603509 | CACNA1E | c.2142+3A>G (n.2142+3A>G) c.2577+3A>G (n.2577+3A>G) | ClinVar dbSNP |
| 1 | g.181724541A= | CA1211205009 | CACNA1E | c.2142+4A= (n.2142+4A=) c.2577+4A= (n.2577+4A=) | |
| 1 | g.181724541A>G | CA1211205011 | CACNA1E | c.2142+4A>G (n.2142+4A>G) c.2577+4A>G (n.2577+4A>G) | dbSNP |
| 1 | g.181724542G>A | CA2574097085 | CACNA1E | c.2142+5G>A (n.2142+5G>A) c.2577+5G>A (n.2577+5G>A) | |
| 1 | g.181724543C= | CA1211205014 | CACNA1E | c.2142+6C= (n.2142+6C=) c.2577+6C= (n.2577+6C=) | |
| 1 | g.181724543C>T | CA527232651 | CACNA1E | c.2142+6C>T (n.2142+6C>T) c.2577+6C>T (n.2577+6C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.181724545T>C | CA527232652 | CACNA1E | c.2142+8T>C (n.2142+8T>C) c.2577+8T>C (n.2577+8T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724545T= | CA1211205016 | CACNA1E | c.2142+8T= (n.2142+8T=) c.2577+8T= (n.2577+8T=) | |
| 1 | g.181724546T>A | CA2649397839 | CACNA1E | c.2142+9T>A (n.2142+9T>A) c.2577+9T>A (n.2577+9T>A) | gnomAD v4 |
| 1 | g.181724547G>A | CA2574097086 | CACNA1E | c.2142+10G>A (n.2142+10G>A) c.2577+10G>A (n.2577+10G>A) | |
| 1 | g.181724548T>C | CA33822773 | CACNA1E | c.2142+11T>C (n.2142+11T>C) c.2577+11T>C (n.2577+11T>C) | dbSNP gnomAD v4 |
| 1 | g.181724548T= | CA1211205018 | CACNA1E | c.2142+11T= (n.2142+11T=) c.2577+11T= (n.2577+11T=) | |
| 1 | g.181724549T>C | CA2649397840 | CACNA1E | c.2142+12T>C (n.2142+12T>C) c.2577+12T>C (n.2577+12T>C) | gnomAD v4 |
| 1 | g.181724549T>G | CA892007080 | CACNA1E | c.2142+12T>G (n.2142+12T>G) c.2577+12T>G (n.2577+12T>G) | dbSNP |
| 1 | g.181724549T= | CA1211205020 | CACNA1E | c.2142+12T= (n.2142+12T=) c.2577+12T= (n.2577+12T=) | |
| 1 | g.181724551T>G | CA2649397841 | CACNA1E | c.2142+14T>G (n.2142+14T>G) c.2577+14T>G (n.2577+14T>G) | gnomAD v4 |
| 1 | g.181724552C= | CA1211205022 | CACNA1E | c.2142+15C= (n.2142+15C=) c.2577+15C= (n.2577+15C=) | |
| 1 | g.181724552C>T | CA1275262 | CACNA1E | c.2142+15C>T (n.2142+15C>T) c.2577+15C>T (n.2577+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.181724553T>G | CA2649397842 | CACNA1E | c.2142+16T>G (n.2142+16T>G) c.2577+16T>G (n.2577+16T>G) | gnomAD v4 |
| 1 | g.181724554G>A | CA2568914579 | CACNA1E | c.2142+17G>A (n.2142+17G>A) c.2577+17G>A (n.2577+17G>A) | |
| 1 | g.181724554G>T | CA2649397844 | CACNA1E | c.2142+17G>T (n.2142+17G>T) c.2577+17G>T (n.2577+17G>T) | gnomAD v4 |
| 1 | g.181724557dup | CA2649397843 | CACNA1E | c.2142+20dup (n.2142+20dup) c.2577+20dup (n.2577+20dup) | gnomAD v4 |
| 1 | g.181724557del | CA2574097087 | CACNA1E | c.2142+20del (n.2142+20del) c.2577+20del (n.2577+20del) | |
| 1 | g.181724557G>A | CA1275263 | CACNA1E | c.2142+20G>A (n.2142+20G>A) c.2577+20G>A (n.2577+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724557G= | CA1211205025 | CACNA1E | c.2142+20G= (n.2142+20G=) c.2577+20G= (n.2577+20G=) | |
| 1 | g.181724557G>T | CA33822786 | CACNA1E | c.2142+20G>T (n.2142+20G>T) c.2577+20G>T (n.2577+20G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.181724558A= | CA1211205028 | CACNA1E | c.2142+21A= (n.2142+21A=) c.2577+21A= (n.2577+21A=) | |
| 1 | g.181724558A>C | CA1211205027 | CACNA1E | c.2142+21A>C (n.2142+21A>C) c.2577+21A>C (n.2577+21A>C) | dbSNP gnomAD v4 |
| 1 | g.181724559T>C | CA2649397845 | CACNA1E | c.2142+22T>C (n.2142+22T>C) c.2577+22T>C (n.2577+22T>C) | gnomAD v4 |
| 1 | g.181724560C>A | CA2649397846 | CACNA1E | c.2142+23C>A (n.2142+23C>A) c.2577+23C>A (n.2577+23C>A) | gnomAD v4 |
| 1 | g.181724561T>C | CA2649397847 | CACNA1E | c.2142+24T>C (n.2142+24T>C) c.2577+24T>C (n.2577+24T>C) | gnomAD v4 |
| 1 | g.181724562G>A | CA1211205031 | CACNA1E | c.2142+25G>A (n.2142+25G>A) c.2577+25G>A (n.2577+25G>A) | dbSNP |
| 1 | g.181724562G= | CA1211205029 | CACNA1E | c.2142+25G= (n.2142+25G=) c.2577+25G= (n.2577+25G=) | |
| 1 | g.181724564T>C | CA2649397848 | CACNA1E | c.2142+27T>C (n.2142+27T>C) c.2577+27T>C (n.2577+27T>C) | gnomAD v4 |
| 1 | g.181724565G>A | CA1275264 | CACNA1E | c.2142+28G>A (n.2142+28G>A) c.2577+28G>A (n.2577+28G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.181724565G= | CA1211205035 | CACNA1E | c.2142+28G= (n.2142+28G=) c.2577+28G= (n.2577+28G=) | |
| 1 | g.181724566T>C | CA2649397849 | CACNA1E | c.2142+29T>C (n.2142+29T>C) c.2577+29T>C (n.2577+29T>C) | gnomAD v4 |
| 1 | g.181724567T>C | CA2649397850 | CACNA1E | c.2142+30T>C (n.2142+30T>C) c.2577+30T>C (n.2577+30T>C) | gnomAD v4 |
| 1 | g.181724569C>A | CA527232653 | CACNA1E | c.2142+32C>A (n.2142+32C>A) c.2577+32C>A (n.2577+32C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.181724569C= | CA1211205037 | CACNA1E | c.2142+32C= (n.2142+32C=) c.2577+32C= (n.2577+32C=) | |
| 1 | g.181724569C>G | CA2649397851 | CACNA1E | c.2142+32C>G (n.2142+32C>G) c.2577+32C>G (n.2577+32C>G) | gnomAD v4 |
| 1 | g.181724569C>T | CA2649397852 | CACNA1E | c.2142+32C>T (n.2142+32C>T) c.2577+32C>T (n.2577+32C>T) | gnomAD v4 |
| 1 | g.181724571C>A | CA1275266 | CACNA1E | c.2142+34C>A (n.2142+34C>A) c.2577+34C>A (n.2577+34C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724571C= | CA1211205042 | CACNA1E | c.2142+34C= (n.2142+34C=) c.2577+34C= (n.2577+34C=) | |
| 1 | g.181724571C>T | CA2746877015 | CACNA1E | c.2142+34C>T (n.2142+34C>T) c.2577+34C>T (n.2577+34C>T) | |
| 1 | g.181724571_181724572insCA | CA1275265 | CACNA1E | c.2142+34_2142+35insCA (n.2142+34_2142+35insCA) c.2577+34_2577+35insCA (n.2577+34_2577+35insCA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724573A= | CA1211205046 | CACNA1E | c.2142+36A= (n.2142+36A=) c.2577+36A= (n.2577+36A=) | |
| 1 | g.181724573A>G | CA1275267 | CACNA1E | c.2142+36A>G (n.2142+36A>G) c.2577+36A>G (n.2577+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724574G>T | CA2649397853 | CACNA1E | c.2142+37G>T (n.2142+37G>T) c.2577+37G>T (n.2577+37G>T) | gnomAD v4 |
| 1 | g.181724575T>C | CA1009799498 | CACNA1E | c.2142+38T>C (n.2142+38T>C) c.2577+38T>C (n.2577+38T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.181724575T>G | CA2574097088 | CACNA1E | c.2142+38T>G (n.2142+38T>G) c.2577+38T>G (n.2577+38T>G) | gnomAD v4 |
| 1 | g.181724575T= | CA1211205048 | CACNA1E | c.2142+38T= (n.2142+38T=) c.2577+38T= (n.2577+38T=) | |
| 1 | g.181724577C>A | CA2649397855 | CACNA1E | c.2142+40C>A (n.2142+40C>A) c.2577+40C>A (n.2577+40C>A) | gnomAD v4 |
| 1 | g.181724577C>T | CA2574097089 | CACNA1E | c.2142+40C>T (n.2142+40C>T) c.2577+40C>T (n.2577+40C>T) | gnomAD v4 |
| 1 | g.181724579_181724588del | CA2649397854 | CACNA1E | c.2142+42_2142+51del (n.2142+42_2142+51del) c.2577+42_2577+51del (n.2577+42_2577+51del) | gnomAD v4 |
| 1 | g.181724578C>A | CA2574097090 | CACNA1E | c.2142+41C>A (n.2142+41C>A) c.2577+41C>A (n.2577+41C>A) | gnomAD v4 |
| 1 | g.181724578C>T | CA2649397856 | CACNA1E | c.2142+41C>T (n.2142+41C>T) c.2577+41C>T (n.2577+41C>T) | gnomAD v4 |
| 1 | g.181724579A>G | CA2649397857 | CACNA1E | c.2142+42A>G (n.2142+42A>G) c.2577+42A>G (n.2577+42A>G) | gnomAD v4 |
| 1 | g.181724579A>T | CA2746877016 | CACNA1E | c.2142+42A>T (n.2142+42A>T) c.2577+42A>T (n.2577+42A>T) | |
| 1 | g.181724580T>A | CA2574097091 | CACNA1E | c.2142+43T>A (n.2142+43T>A) c.2577+43T>A (n.2577+43T>A) | gnomAD v4 |
| 1 | g.181724580T>C | CA1275268 | CACNA1E | c.2142+43T>C (n.2142+43T>C) c.2577+43T>C (n.2577+43T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724580T= | CA1211205050 | CACNA1E | c.2142+43T= (n.2142+43T=) c.2577+43T= (n.2577+43T=) | |
| 1 | g.181724581T>A | CA2574097092 | CACNA1E | c.2142+44T>A (n.2142+44T>A) c.2577+44T>A (n.2577+44T>A) | gnomAD v4 |
| 1 | g.181724582G>T | CA646164751 | CACNA1E | c.2142+45G>T (n.2142+45G>T) c.2577+45G>T (n.2577+45G>T) | gnomAD v4 COSMIC |
| 1 | g.181724583G>A | CA33822805 | CACNA1E | c.2142+46G>A (n.2142+46G>A) c.2577+46G>A (n.2577+46G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724583G= | CA1211205053 | CACNA1E | c.2142+46G= (n.2142+46G=) c.2577+46G= (n.2577+46G=) | |
| 1 | g.181724583G>T | CA2649397858 | CACNA1E | c.2142+46G>T (n.2142+46G>T) c.2577+46G>T (n.2577+46G>T) | gnomAD v4 |
| 1 | g.181724584G>A | CA2649397859 | CACNA1E | c.2142+47G>A (n.2142+47G>A) c.2577+47G>A (n.2577+47G>A) | gnomAD v4 |
| 1 | g.181724584G>T | CA2649397860 | CACNA1E | c.2142+47G>T (n.2142+47G>T) c.2577+47G>T (n.2577+47G>T) | gnomAD v4 |
| 1 | g.181724585T>C | CA1211205056 | CACNA1E | c.2142+48T>C (n.2142+48T>C) c.2577+48T>C (n.2577+48T>C) | dbSNP |
| 1 | g.181724585T= | CA1211205055 | CACNA1E | c.2142+48T= (n.2142+48T=) c.2577+48T= (n.2577+48T=) | |
| 1 | g.181724587C>A | CA2649397861 | CACNA1E | c.2142+50C>A (n.2142+50C>A) c.2577+50C>A (n.2577+50C>A) | gnomAD v4 |
| 1 | g.181724587C>T | CA2574097093 | CACNA1E | c.2142+50C>T (n.2142+50C>T) c.2577+50C>T (n.2577+50C>T) | |
| 1 | g.181724588C>A | CA2574097094 | CACNA1E | c.2142+51C>A (n.2142+51C>A) c.2577+51C>A (n.2577+51C>A) | gnomAD v4 |
| 1 | g.181724588C= | CA1211205059 | CACNA1E | c.2142+51C= (n.2142+51C=) c.2577+51C= (n.2577+51C=) | |
| 1 | g.181724588C>G | CA527232655 | CACNA1E | c.2142+51C>G (n.2142+51C>G) c.2577+51C>G (n.2577+51C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724588C>T | CA1211205062 | CACNA1E | c.2142+51C>T (n.2142+51C>T) c.2577+51C>T (n.2577+51C>T) | dbSNP gnomAD v4 |
| 1 | g.181724589C>A | CA2649397862 | CACNA1E | c.2142+52C>A (n.2142+52C>A) c.2577+52C>A (n.2577+52C>A) | gnomAD v4 |
| 1 | g.181724589C= | CA1148066615 | CACNA1E | c.2142+52C= (n.2142+52C=) c.2577+52C= (n.2577+52C=) | |
| 1 | g.181724589C>T | CA33822806 | CACNA1E | c.2142+52C>T (n.2142+52C>T) c.2577+52C>T (n.2577+52C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.181724590T>A | CA2574097095 | CACNA1E | c.2142+53T>A (n.2142+53T>A) c.2577+53T>A (n.2577+53T>A) | gnomAD v4 |
| 1 | g.181724590T>C | CA2649397863 | CACNA1E | c.2142+53T>C (n.2142+53T>C) c.2577+53T>C (n.2577+53T>C) | gnomAD v4 |
| 1 | g.181724591T>A | CA2574097096 | CACNA1E | c.2142+54T>A (n.2142+54T>A) c.2577+54T>A (n.2577+54T>A) | gnomAD v4 |
| 1 | g.181724591T>C | CA33822807 | CACNA1E | c.2142+54T>C (n.2142+54T>C) c.2577+54T>C (n.2577+54T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.181724591T= | CA1145569550 | CACNA1E | c.2142+54T= (n.2142+54T=) c.2577+54T= (n.2577+54T=) | |
| 1 | g.181724592T>C | CA1009799506 | CACNA1E | c.2142+55T>C (n.2142+55T>C) c.2577+55T>C (n.2577+55T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.181724592T>G | CA2649397864 | CACNA1E | c.2142+55T>G (n.2142+55T>G) c.2577+55T>G (n.2577+55T>G) | gnomAD v4 |
| 1 | g.181724592T= | CA1211205068 | CACNA1E | c.2142+55T= (n.2142+55T=) c.2577+55T= (n.2577+55T=) | |
| 1 | g.181724593G>T | CA2649397865 | CACNA1E | c.2142+56G>T (n.2142+56G>T) c.2577+56G>T (n.2577+56G>T) | gnomAD v4 |
| 1 | g.181724595C>A | CA1009799508 | CACNA1E | c.2142+58C>A (n.2142+58C>A) c.2577+58C>A (n.2577+58C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.181724595C= | CA1211205070 | CACNA1E | c.2142+58C= (n.2142+58C=) c.2577+58C= (n.2577+58C=) | |
| 1 | g.181724595C>G | CA2649397866 | CACNA1E | c.2142+58C>G (n.2142+58C>G) c.2577+58C>G (n.2577+58C>G) | gnomAD v4 |
| 1 | g.181724595C>T | CA892007102 | CACNA1E | c.2142+58C>T (n.2142+58C>T) c.2577+58C>T (n.2577+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.181724595_181724596insA | CA2649397867 | CACNA1E | c.2142+58_2142+59insA (n.2142+58_2142+59insA) c.2577+58_2577+59insA (n.2577+58_2577+59insA) | gnomAD v4 |
| 1 | g.181724595_181724596insACTAGAGAAACATCAGAT | CA2527308214 | CACNA1E | c.2142+58_2142+59insACTAGAGAAACATCAGAT (n.2142+58_2142+59insACTAGAGAAACATCAGAT) c.2577+58_2577+59insACTAGAGAAACATCAGAT (n.2577+58_2577+59insACTAGAGAAACATCAGAT) | |
| 1 | g.181724596C>A | CA2649397868 | CACNA1E | c.2142+59C>A (n.2142+59C>A) c.2577+59C>A (n.2577+59C>A) | gnomAD v4 |
| 1 | g.181724597T>C | CA2574097097 | CACNA1E | c.2142+60T>C (n.2142+60T>C) c.2577+60T>C (n.2577+60T>C) | gnomAD v4 |
| 1 | g.181724599T>A | CA2649397869 | CACNA1E | c.2142+62T>A (n.2142+62T>A) c.2577+62T>A (n.2577+62T>A) | gnomAD v4 |