Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.41746238A>C | CA356738411 | PHOX2B | c.514T>G (p.Ser172Ala) n.335T>G | |
4 | g.41746238A>G | CA2901483 | PHOX2B | c.514T>C (p.Ser172Pro) n.335T>C | dbSNP ExAC gnomAD v2 |
4 | g.41746238A>T | CA356738417 | PHOX2B | c.514T>A (p.Ser172Thr) n.335T>A | |
4 | g.41746239G>A | CA439143385 | PHOX2B | c.513C>T (p.Ser171=) n.334C>T | ClinVar |
4 | g.41746239G>C | CA439143383 | PHOX2B | c.513C>G (p.Ser171=) n.334C>G | |
4 | g.41746239G>T | CA439143382 | PHOX2B | c.513C>A (p.Ser171=) n.334C>A | COSMIC |
4 | g.41746240G>A | CA356738419 | PHOX2B | c.512C>T (p.Ser171Phe) n.333C>T | ClinVar dbSNP |
4 | g.41746240G>C | CA356738424 | PHOX2B | c.512C>G (p.Ser171Cys) n.333C>G | ClinVar dbSNP |
4 | g.41746240G>T | CA356738420 | PHOX2B | c.512C>A (p.Ser171Tyr) n.333C>A | gnomAD v4 |
4 | g.41746241A>C | CA356738427 | PHOX2B | c.511T>G (p.Ser171Ala) n.332T>G | |
4 | g.41746241A>G | CA356738430 | PHOX2B | c.511T>C (p.Ser171Pro) n.332T>C | ClinVar dbSNP |
4 | g.41746241A>T | CA356738428 | PHOX2B | c.511T>A (p.Ser171Thr) n.332T>A | |
4 | g.41746242G>A | CA439143400 | PHOX2B | c.510C>T (p.Gly170=) n.331C>T | ClinVar dbSNP gnomAD v4 |
4 | g.41746242G>C | CA439143404 | PHOX2B | c.510C>G (p.Gly170=) n.331C>G | |
4 | g.41746242G>T | CA439143401 | PHOX2B | c.510C>A (p.Gly170=) n.331C>A | |
4 | g.41746243C>A | CA356738432 | PHOX2B | c.509G>T (p.Gly170Val) n.330G>T | ClinVar |
4 | g.41746243C>G | CA356738435 | PHOX2B | c.509G>C (p.Gly170Ala) n.330G>C | |
4 | g.41746243C>T | CA356738436 | PHOX2B | c.509G>A (p.Gly170Asp) n.330G>A | ClinVar gnomAD v4 |
4 | g.41746244C>A | CA356738439 | PHOX2B | c.508G>T (p.Gly170Cys) n.329G>T | ClinVar dbSNP gnomAD v4 |
4 | g.41746244C>G | CA2901484 | PHOX2B | c.508G>C (p.Gly170Arg) n.329G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.41746244C>T | CA356738444 | PHOX2B | c.508G>A (p.Gly170Ser) n.329G>A | ClinVar dbSNP gnomAD v4 |
4 | g.41746245G>A | CA439143417 | PHOX2B | c.507C>T (p.Asn169=) n.328C>T | ClinVar gnomAD v4 |
4 | g.41746245G>C | CA356738449 | PHOX2B | c.507C>G (p.Asn169Lys) n.328C>G | |
4 | g.41746245G>T | CA356738452 | PHOX2B | c.507C>A (p.Asn169Lys) n.328C>A | ClinVar dbSNP |
4 | g.41746246T>A | CA356738456 | PHOX2B | c.506A>T (p.Asn169Ile) n.327A>T | |
4 | g.41746246T>C | CA356738458 | PHOX2B | c.506A>G (p.Asn169Ser) n.327A>G | |
4 | g.41746246T>G | CA356738461 | PHOX2B | c.506A>C (p.Asn169Thr) n.327A>C | |
4 | g.41746247T>A | CA356738469 | PHOX2B | c.505A>T (p.Asn169Tyr) n.326A>T | |
4 | g.41746247T>C | CA356738466 | PHOX2B | c.505A>G (p.Asn169Asp) n.326A>G | COSMIC |
4 | g.41746247T>G | CA356738467 | PHOX2B | c.505A>C (p.Asn169His) n.326A>C | |
4 | g.41746248C>A | CA356738473 | PHOX2B | c.504G>T (p.Lys168Asn) n.325G>T | |
4 | g.41746248C>G | CA356738476 | PHOX2B | c.504G>C (p.Lys168Asn) n.325G>C | |
4 | g.41746248C>T | CA95828617 | PHOX2B | c.504G>A (p.Lys168=) n.325G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
4 | g.41746249T>A | CA356738478 | PHOX2B | c.503A>T (p.Lys168Met) n.324A>T | |
4 | g.41746249T>C | CA2901485 | PHOX2B | c.503A>G (p.Lys168Arg) n.324A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746249T>G | CA356738483 | PHOX2B | c.503A>C (p.Lys168Thr) n.324A>C | |
4 | g.41746250T>A | CA356738486 | PHOX2B | c.502A>T (p.Lys168Ter) n.323A>T | |
4 | g.41746250T>C | CA356738488 | PHOX2B | c.502A>G (p.Lys168Glu) n.323A>G | gnomAD v4 |
4 | g.41746250T>G | CA356738492 | PHOX2B | c.502A>C (p.Lys168Gln) n.323A>C | |
4 | g.41746251G>A | CA439143441 | PHOX2B | c.501C>T (p.Ala167=) n.322C>T | |
4 | g.41746251G>C | CA439143442 | PHOX2B | c.501C>G (p.Ala167=) n.322C>G | gnomAD v4 |
4 | g.41746251G>T | CA439143443 | PHOX2B | c.501C>A (p.Ala167=) n.322C>A | dbSNP |
4 | g.41746257_41746262dup | CA2497074311 | PHOX2B | c.496_501dup (p.Ala167_Lys168insAlaAla) n.317_322dup | ClinVar dbSNP |
4 | g.41746251_41746268dup | CA2573137671 | PHOX2B | c.484_501dup (p.Ala167_Lys168insAlaAlaAlaAlaAlaAla) n.305_322dup | ClinVar dbSNP |
4 | g.41746252G>A | CA356738495 | PHOX2B | c.500C>T (p.Ala167Val) n.321C>T | ClinVar |
4 | g.41746252G>C | CA356738498 | PHOX2B | c.500C>G (p.Ala167Gly) n.321C>G | |
4 | g.41746252G>T | CA356738501 | PHOX2B | c.500C>A (p.Ala167Asp) n.321C>A | |
4 | g.41746257_41746274dup | CA658780103 | PHOX2B | c.483_500dup (p.Ala167_Lys168insAlaAlaAlaAlaAlaAla) n.304_321dup | dbSNP gnomAD v4 |
4 | g.41746253C>A | CA356738507 | PHOX2B | c.499G>T (p.Ala167Ser) n.320G>T | |
4 | g.41746253C>G | CA356738510 | PHOX2B | c.499G>C (p.Ala167Pro) n.320G>C | |
4 | g.41746253C>T | CA356738504 | PHOX2B | c.499G>A (p.Ala167Thr) n.320G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.41746254C>A | CA2901486 | PHOX2B | c.498G>T (p.Ala166=) n.319G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746254C>G | CA439143453 | PHOX2B | c.498G>C (p.Ala166=) n.319G>C | |
4 | g.41746254C>T | CA439143455 | PHOX2B | c.498G>A (p.Ala166=) n.319G>A | ClinVar dbSNP gnomAD v4 |
4 | g.41746255G>A | CA2901487 | PHOX2B | c.497C>T (p.Ala166Val) n.318C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.41746255G>C | CA356738522 | PHOX2B | c.497C>G (p.Ala166Gly) n.318C>G | |
4 | g.41746255G>T | CA356738525 | PHOX2B | c.497C>A (p.Ala166Glu) n.318C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.41746257_41746268dup | CA2497074312 | PHOX2B | c.486_497dup (p.Ala166_Ala167insAlaAlaAlaAla) n.307_318dup | ClinVar dbSNP |
4 | g.41746256C>A | CA356738529 | PHOX2B | c.496G>T (p.Ala166Ser) n.317G>T | |
4 | g.41746256C>G | CA356738530 | PHOX2B | c.496G>C (p.Ala166Pro) n.317G>C | |
4 | g.41746256C>T | CA356738533 | PHOX2B | c.496G>A (p.Ala166Thr) n.317G>A | ClinVar dbSNP gnomAD v4 COSMIC |
4 | g.41746257G>A | CA439143462 | PHOX2B | c.495C>T (p.Ala165=) n.316C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.41746257G>C | CA439143463 | PHOX2B | c.495C>G (p.Ala165=) n.316C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746257G>T | CA439143461 | PHOX2B | c.495C>A (p.Ala165=) n.316C>A | |
4 | g.41746258G>A | CA356738537 | PHOX2B | c.494C>T (p.Ala165Val) n.315C>T | |
4 | g.41746258G>C | CA356738541 | PHOX2B | c.494C>G (p.Ala165Gly) n.315C>G | |
4 | g.41746258G>T | CA356738538 | PHOX2B | c.494C>A (p.Ala165Asp) n.315C>A | |
4 | g.41746267_41746278dup | CA2573137672 | PHOX2B | c.483_494dup (p.Ala165_Ala166insAlaAlaAlaAla) n.304_315dup | ClinVar dbSNP gnomAD v4 |
4 | g.41746267_41746278del | CA794915032 | PHOX2B | c.483_494del (p.Ala162_Ala165del) n.304_315del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.41746259C>A | CA356738543 | PHOX2B | c.493G>T (p.Ala165Ser) n.314G>T | |
4 | g.41746259C>G | CA356738546 | PHOX2B | c.493G>C (p.Ala165Pro) n.314G>C | |
4 | g.41746259C>T | CA356738548 | PHOX2B | c.493G>A (p.Ala165Thr) n.314G>A | |
4 | g.41746260C>A | CA439143474 | PHOX2B | c.492G>T (p.Ala164=) n.313G>T | gnomAD v4 |
4 | g.41746260C>G | CA439143472 | PHOX2B | c.492G>C (p.Ala164=) n.313G>C | ClinVar |
4 | g.41746260C>T | CA2901488 | PHOX2B | c.492G>A (p.Ala164=) n.313G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.41746261G>A | CA356738551 | PHOX2B | c.491C>T (p.Ala164Val) n.312C>T | gnomAD v4 |
4 | g.41746261G>C | CA356738557 | PHOX2B | c.491C>G (p.Ala164Gly) n.312C>G | ClinVar |
4 | g.41746261G>T | CA356738553 | PHOX2B | c.491C>A (p.Ala164Glu) n.312C>A | dbSNP gnomAD v2 |
4 | g.41746266_41746271dup | CA2670427177 | PHOX2B | c.486_491dup (p.Ala164_Ala165insAlaAla) n.307_312dup | gnomAD v4 |
4 | g.41746262C>A | CA356738560 | PHOX2B | c.490G>T (p.Ala164Ser) n.311G>T | |
4 | g.41746262C>G | CA356738562 | PHOX2B | c.490G>C (p.Ala164Pro) n.311G>C | |
4 | g.41746262C>T | CA356738565 | PHOX2B | c.490G>A (p.Ala164Thr) n.311G>A | |
4 | g.41746262dup | CA645526523 | PHOX2B | c.490dup (p.Ala164GlyfsTer14) n.311dup | COSMIC |
4 | g.41746263T>A | CA439143483 | PHOX2B | c.489A>T (p.Ala163=) n.310A>T | |
4 | g.41746263T>C | CA439143486 | PHOX2B | c.489A>G (p.Ala163=) n.310A>G | ClinVar gnomAD v4 |
4 | g.41746263T>G | CA439143485 | PHOX2B | c.489A>C (p.Ala163=) n.310A>C | |
4 | g.41746264G>A | CA356738569 | PHOX2B | c.488C>T (p.Ala163Val) n.309C>T | |
4 | g.41746264G>C | CA356738572 | PHOX2B | c.488C>G (p.Ala163Gly) n.309C>G | |
4 | g.41746264G>T | CA356738575 | PHOX2B | c.488C>A (p.Ala163Glu) n.309C>A | |
4 | g.41746265C>A | CA356738578 | PHOX2B | c.487G>T (p.Ala163Ser) n.308G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.41746265C>G | CA356738580 | PHOX2B | c.487G>C (p.Ala163Pro) n.308G>C | |
4 | g.41746265C>T | CA2901489 | PHOX2B | c.487G>A (p.Ala163Thr) n.308G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.41746266G>A | CA2901490 | PHOX2B | c.486C>T (p.Ala162=) n.307C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746266G>C | CA439143497 | PHOX2B | c.486C>G (p.Ala162=) n.307C>G | |
4 | g.41746266G>T | CA2901491 | PHOX2B | c.486C>A (p.Ala162=) n.307C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746267G>A | CA356738588 | PHOX2B | c.485C>T (p.Ala162Val) n.306C>T | COSMIC |
4 | g.41746267G>C | CA356738593 | PHOX2B | c.485C>G (p.Ala162Gly) n.306C>G | dbSNP gnomAD v2 gnomAD v4 |
4 | g.41746267G>T | CA356738591 | PHOX2B | c.485C>A (p.Ala162Asp) n.306C>A | |
4 | g.41746268C>A | CA356738595 | PHOX2B | c.484G>T (p.Ala162Ser) n.305G>T | |
4 | g.41746268C>G | CA356738600 | PHOX2B | c.484G>C (p.Ala162Pro) n.305G>C | |
4 | g.41746268C>T | CA356738597 | PHOX2B | c.484G>A (p.Ala162Thr) n.305G>A | |
4 | g.41746269T>A | CA439143518 | PHOX2B | c.483A>T (p.Ala161=) n.304A>T | |
4 | g.41746269T>C | CA439143520 | PHOX2B | c.483A>G (p.Ala161=) n.304A>G | |
4 | g.41746269T>G | CA2901492 | PHOX2B | c.483A>C (p.Ala161=) n.304A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.41746270G>A | CA356738606 | PHOX2B | c.482C>T (p.Ala161Val) n.303C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.41746270G>C | CA356738608 | PHOX2B | c.482C>G (p.Ala161Gly) n.303C>G | |
4 | g.41746270G>T | CA356738610 | PHOX2B | c.482C>A (p.Ala161Glu) n.303C>A | |
4 | g.41746271C>A | CA356738613 | PHOX2B | c.481G>T (p.Ala161Ser) n.302G>T | |
4 | g.41746271C>G | CA95828640 | PHOX2B | c.481G>C (p.Ala161Pro) n.302G>C | dbSNP |
4 | g.41746271C>T | CA356738618 | PHOX2B | c.481G>A (p.Ala161Thr) n.302G>A | |
4 | g.41746272del | CA2586973824 | PHOX2B | c.481del (p.Ala161GlnfsTer?) n.302del | |
4 | g.41746272C>A | CA439143525 | PHOX2B | c.480G>T (p.Ala160=) n.301G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746272C>G | CA2901493 | PHOX2B | c.480G>C (p.Ala160=) n.301G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746272C>T | CA439143527 | PHOX2B | c.480G>A (p.Ala160=) n.301G>A | ClinVar dbSNP gnomAD v4 |
4 | g.41746273_41746274dup | CA2739270047 | PHOX2B | c.479_480dup (p.Ala161ArgfsTer?) n.300_301dup | ClinVar |
4 | g.41746273G>A | CA356738625 | PHOX2B | c.479C>T (p.Ala160Val) n.300C>T | ClinVar dbSNP gnomAD v4 |
4 | g.41746273G>C | CA356738628 | PHOX2B | c.479C>G (p.Ala160Gly) n.300C>G | ClinVar dbSNP gnomAD v4 |
4 | g.41746273G>T | CA356738630 | PHOX2B | c.479C>A (p.Ala160Glu) n.300C>A | |
4 | g.41746274C>A | CA356738634 | PHOX2B | c.478G>T (p.Ala160Ser) n.299G>T | |
4 | g.41746274C>G | CA356738640 | PHOX2B | c.478G>C (p.Ala160Pro) n.299G>C | |
4 | g.41746274C>T | CA356738641 | PHOX2B | c.478G>A (p.Ala160Thr) n.299G>A | |
4 | g.41746275T>A | CA439143528 | PHOX2B | c.477A>T (p.Ala159=) n.298A>T | |
4 | g.41746275T>C | CA439143531 | PHOX2B | c.477A>G (p.Ala159=) n.298A>G | |
4 | g.41746275T>G | CA439143533 | PHOX2B | c.477A>C (p.Ala159=) n.298A>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.41746276G>A | CA356738644 | PHOX2B | c.476C>T (p.Ala159Val) n.297C>T | ClinVar dbSNP gnomAD v4 |
4 | g.41746276G>C | CA356738649 | PHOX2B | c.476C>G (p.Ala159Gly) n.297C>G | |
4 | g.41746276G>T | CA356738647 | PHOX2B | c.476C>A (p.Ala159Glu) n.297C>A | |
4 | g.41746277C>A | CA356738652 | PHOX2B | c.475G>T (p.Ala159Ser) n.296G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.41746277C>G | CA356738655 | PHOX2B | c.475G>C (p.Ala159Pro) n.296G>C | dbSNP |
4 | g.41746277C>T | CA356738657 | PHOX2B | c.475G>A (p.Ala159Thr) n.296G>A | ClinVar |
4 | g.41746278G>A | CA439143547 | PHOX2B | c.474C>T (p.Arg158=) n.295C>T | |
4 | g.41746278G>C | CA439143552 | PHOX2B | c.474C>G (p.Arg158=) n.295C>G | |
4 | g.41746278G>T | CA439143554 | PHOX2B | c.474C>A (p.Arg158=) n.295C>A | ClinVar |
4 | g.41746279C>A | CA356738660 | PHOX2B | c.473G>T (p.Arg158Leu) n.294G>T | |
4 | g.41746279C>G | CA356738663 | PHOX2B | c.473G>C (p.Arg158Pro) n.294G>C | |
4 | g.41746279C>T | CA356738666 | PHOX2B | c.473G>A (p.Arg158His) n.294G>A | COSMIC |
4 | g.41746280G>A | CA356738671 | PHOX2B | c.472C>T (p.Arg158Cys) n.293C>T | COSMIC |
4 | g.41746280G>C | CA356738673 | PHOX2B | c.472C>G (p.Arg158Gly) n.293C>G | |
4 | g.41746280G>T | CA356738674 | PHOX2B | c.472C>A (p.Arg158Ser) n.293C>A | |
4 | g.41746281C>A | CA356738676 | PHOX2B | c.471G>T (p.Glu157Asp) n.292G>T | gnomAD v4 |
4 | g.41746281C>G | CA356738678 | PHOX2B | c.471G>C (p.Glu157Asp) n.292G>C | gnomAD v4 |
4 | g.41746281C>T | CA439143560 | PHOX2B | c.471G>A (p.Glu157=) n.292G>A | |
4 | g.41746282T>A | CA356738681 | PHOX2B | c.470A>T (p.Glu157Val) n.291A>T | |
4 | g.41746282T>C | CA356738686 | PHOX2B | c.470A>G (p.Glu157Gly) n.291A>G | ClinVar |
4 | g.41746282T>G | CA356738684 | PHOX2B | c.470A>C (p.Glu157Ala) n.291A>C | |
4 | g.41746283C>A | CA356738689 | PHOX2B | c.469G>T (p.Glu157Ter) n.290G>T | |
4 | g.41746283C>G | CA356738691 | PHOX2B | c.469G>C (p.Glu157Gln) n.290G>C | ClinVar |
4 | g.41746283C>T | CA356738693 | PHOX2B | c.469G>A (p.Glu157Lys) n.290G>A | |
4 | g.41746284C>A | CA356738694 | PHOX2B | c.468G>T (p.Gln156His) n.289G>T | dbSNP |
4 | g.41746284C>G | CA356738697 | PHOX2B | c.468G>C (p.Gln156His) n.289G>C | |
4 | g.41746284C>T | CA439143570 | PHOX2B | c.468G>A (p.Gln156=) n.289G>A | |
4 | g.41746285T>A | CA356738700 | PHOX2B | c.467A>T (p.Gln156Leu) n.288A>T | |
4 | g.41746285T>C | CA356738703 | PHOX2B | c.467A>G (p.Gln156Arg) n.288A>G | |
4 | g.41746285T>G | CA356738708 | PHOX2B | c.467A>C (p.Gln156Pro) n.288A>C | |
4 | g.41746286G>A | CA356738712 | PHOX2B | c.466C>T (p.Gln156Ter) n.287C>T | ClinVar |
4 | g.41746286G>C | CA356738714 | PHOX2B | c.466C>G (p.Gln156Glu) n.287C>G | ClinVar gnomAD v4 |
4 | g.41746286G>T | CA356738717 | PHOX2B | c.466C>A (p.Gln156Lys) n.287C>A | |
4 | g.41746287C>A | CA356738723 | PHOX2B | c.465G>T (p.Lys155Asn) n.286G>T | dbSNP gnomAD v2 |
4 | g.41746287C>G | CA356738721 | PHOX2B | c.465G>C (p.Lys155Asn) n.286G>C | |
4 | g.41746287C>T | CA2901494 | PHOX2B | c.465G>A (p.Lys155=) n.286G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.41746288T>A | CA356738726 | PHOX2B | c.464A>T (p.Lys155Met) n.285A>T | |
4 | g.41746288T>C | CA356738728 | PHOX2B | c.464A>G (p.Lys155Arg) n.285A>G | |
4 | g.41746288T>G | CA356738731 | PHOX2B | c.464A>C (p.Lys155Thr) n.285A>C | |
4 | g.41746289T>A | CA356738734 | PHOX2B | c.463A>T (p.Lys155Ter) n.284A>T | |
4 | g.41746289T>C | CA356738737 | PHOX2B | c.463A>G (p.Lys155Glu) n.284A>G | |
4 | g.41746289T>G | CA356738740 | PHOX2B | c.463A>C (p.Lys155Gln) n.284A>C | |
4 | g.41746290G>A | CA439143593 | PHOX2B | c.462C>T (p.Arg154=) n.283C>T | ClinVar |
4 | g.41746290G>C | CA439143595 | PHOX2B | c.462C>G (p.Arg154=) n.283C>G | |
4 | g.41746290G>T | CA439143594 | PHOX2B | c.462C>A (p.Arg154=) n.283C>A | |
4 | g.41746291C>A | CA356738744 | PHOX2B | c.461G>T (p.Arg154Leu) n.282G>T | dbSNP gnomAD v4 |
4 | g.41746291C>G | CA356738747 | PHOX2B | c.461G>C (p.Arg154Pro) n.282G>C | |
4 | g.41746291C>T | CA356738750 | PHOX2B | c.461G>A (p.Arg154His) n.282G>A | COSMIC |
4 | g.41746292G>A | CA95828649 | PHOX2B | c.460C>T (p.Arg154Cys) n.281C>T | dbSNP |
4 | g.41746292G>C | CA356738752 | PHOX2B | c.460C>G (p.Arg154Gly) n.281C>G | |
4 | g.41746292G>T | CA356738754 | PHOX2B | c.460C>A (p.Arg154Ser) n.281C>A | |
4 | g.41746293A>C | CA356738757 | PHOX2B | c.459T>G (p.Phe153Leu) n.280T>G | |
4 | g.41746293A>G | CA439143610 | PHOX2B | c.459T>C (p.Phe153=) n.280T>C | |
4 | g.41746293A>T | CA356738756 | PHOX2B | c.459T>A (p.Phe153Leu) n.280T>A | |
4 | g.41746294A>C | CA356738759 | PHOX2B | c.458T>G (p.Phe153Cys) n.279T>G | |
4 | g.41746294A>G | CA356738761 | PHOX2B | c.458T>C (p.Phe153Ser) n.279T>C | |
4 | g.41746294A>T | CA356738763 | PHOX2B | c.458T>A (p.Phe153Tyr) n.279T>A | |
4 | g.41746295A>C | CA356738766 | PHOX2B | c.457T>G (p.Phe153Val) n.278T>G | |
4 | g.41746295A>G | CA356738767 | PHOX2B | c.457T>C (p.Phe153Leu) n.278T>C | dbSNP gnomAD v2 |
4 | g.41746295A>T | CA356738769 | PHOX2B | c.457T>A (p.Phe153Ile) n.278T>A | |
4 | g.41746296C>A | CA356738774 | PHOX2B | c.456G>T (p.Lys152Asn) n.277G>T | |
4 | g.41746296C>G | CA356738772 | PHOX2B | c.456G>C (p.Lys152Asn) n.277G>C | |
4 | g.41746296C>T | CA439142761 | PHOX2B | c.456G>A (p.Lys152=) n.277G>A | |
4 | g.41746297T>A | CA356738776 | PHOX2B | c.455A>T (p.Lys152Met) n.276A>T | |
4 | g.41746297T>C | CA356738778 | PHOX2B | c.455A>G (p.Lys152Arg) n.276A>G | ClinVar |
4 | g.41746297T>G | CA356738780 | PHOX2B | c.455A>C (p.Lys152Thr) n.276A>C | |
4 | g.41746298T>A | CA356738782 | PHOX2B | c.454A>T (p.Lys152Ter) n.275A>T | |
4 | g.41746298T>C | CA356738783 | PHOX2B | c.454A>G (p.Lys152Glu) n.275A>G | |
4 | g.41746298T>G | CA356738785 | PHOX2B | c.454A>C (p.Lys152Gln) n.275A>C | |
4 | g.41746299G>A | CA439142764 | PHOX2B | c.453C>T (p.Ala151=) n.274C>T | ClinVar dbSNP |
4 | g.41746299G>C | CA439142765 | PHOX2B | c.453C>G (p.Ala151=) n.274C>G | |
4 | g.41746299G>T | CA439142766 | PHOX2B | c.453C>A (p.Ala151=) n.274C>A | ClinVar |
4 | g.41746300G>A | CA356738790 | PHOX2B | c.452C>T (p.Ala151Val) n.273C>T | ClinVar |
4 | g.41746300G>C | CA356738786 | PHOX2B | c.452C>G (p.Ala151Gly) n.273C>G | |
4 | g.41746300G>T | CA356738788 | PHOX2B | c.452C>A (p.Ala151Asp) n.273C>A | |
4 | g.41746301C>A | CA356738792 | PHOX2B | c.451G>T (p.Ala151Ser) n.272G>T | |
4 | g.41746301C>G | CA356738794 | PHOX2B | c.451G>C (p.Ala151Pro) n.272G>C | |
4 | g.41746301C>T | CA356738795 | PHOX2B | c.451G>A (p.Ala151Thr) n.272G>A | gnomAD v4 COSMIC |
4 | g.41746302G>A | CA439142770 | PHOX2B | c.450C>T (p.Arg150=) n.271C>T | ClinVar dbSNP gnomAD v4 |
4 | g.41746302G>C | CA2901495 | PHOX2B | c.450C>G (p.Arg150=) n.271C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746302G>T | CA439142771 | PHOX2B | c.450C>A (p.Arg150=) n.271C>A | ClinVar dbSNP |
4 | g.41746303C>A | CA356738799 | PHOX2B | c.449G>T (p.Arg150Leu) n.270G>T | |
4 | g.41746303C>G | CA356738801 | PHOX2B | c.449G>C (p.Arg150Pro) n.270G>C | |
4 | g.41746303C>T | CA356738803 | PHOX2B | c.449G>A (p.Arg150His) n.270G>A | gnomAD v4 |
4 | g.41746304G>A | CA356738805 | PHOX2B | c.448C>T (p.Arg150Cys) n.269C>T | |
4 | g.41746304G>C | CA356738807 | PHOX2B | c.448C>G (p.Arg150Gly) n.269C>G | |
4 | g.41746304G>T | CA356738808 | PHOX2B | c.448C>A (p.Arg150Ser) n.269C>A | |
4 | g.41746305G>A | CA439142774 | PHOX2B | c.447C>T (p.Arg149=) n.268C>T | |
4 | g.41746305G>C | CA439142775 | PHOX2B | c.447C>G (p.Arg149=) n.268C>G | |
4 | g.41746305G>T | CA439142777 | PHOX2B | c.447C>A (p.Arg149=) n.268C>A | |
4 | g.41746305_41746306delinsAA | CA2586973825 | PHOX2B | c.446_447delinsTT (p.Arg149Leu) n.267_268delinsTT | |
4 | g.41746306C>A | CA356738810 | PHOX2B | c.446G>T (p.Arg149Leu) n.267G>T | ClinVar dbSNP |
4 | g.41746306C>G | CA356738812 | PHOX2B | c.446G>C (p.Arg149Pro) n.267G>C | |
4 | g.41746306C>T | CA356738814 | PHOX2B | c.446G>A (p.Arg149His) n.267G>A | ClinVar |
4 | g.41746307G>A | CA356738815 | PHOX2B | c.445C>T (p.Arg149Cys) n.266C>T | |
4 | g.41746307G>C | CA356738818 | PHOX2B | c.445C>G (p.Arg149Gly) n.266C>G | ClinVar dbSNP |
4 | g.41746307G>T | CA356738816 | PHOX2B | c.445C>A (p.Arg149Ser) n.266C>A | |
4 | g.41746308G>A | CA439142780 | PHOX2B | c.444C>T (p.Asn148=) n.265C>T | |
4 | g.41746308G>C | CA356738820 | PHOX2B | c.444C>G (p.Asn148Lys) n.265C>G | |
4 | g.41746308G>T | CA356738822 | PHOX2B | c.444C>A (p.Asn148Lys) n.265C>A | |
4 | g.41746309T>A | CA356738823 | PHOX2B | c.443A>T (p.Asn148Ile) n.264A>T | |
4 | g.41746309T>C | CA356738825 | PHOX2B | c.443A>G (p.Asn148Ser) n.264A>G | COSMIC |
4 | g.41746309T>G | CA356738827 | PHOX2B | c.443A>C (p.Asn148Thr) n.264A>C | |
4 | g.41746310T>A | CA356738829 | PHOX2B | c.442A>T (p.Asn148Tyr) n.263A>T | |
4 | g.41746310T>C | CA356738831 | PHOX2B | c.442A>G (p.Asn148Asp) n.263A>G | |
4 | g.41746310T>G | CA356738833 | PHOX2B | c.442A>C (p.Asn148His) n.263A>C | |
4 | g.41746311C>A | CA356738834 | PHOX2B | c.441G>T (p.Gln147His) n.262G>T | |
4 | g.41746311C>G | CA356738835 | PHOX2B | c.441G>C (p.Gln147His) n.262G>C | |
4 | g.41746311C>T | CA439142785 | PHOX2B | c.441G>A (p.Gln147=) n.262G>A | |
4 | g.41746312T>A | CA356738837 | PHOX2B | c.440A>T (p.Gln147Leu) n.261A>T | |
4 | g.41746312T>C | CA356738839 | PHOX2B | c.440A>G (p.Gln147Arg) n.261A>G | ClinVar dbSNP |
4 | g.41746312T>G | CA356738841 | PHOX2B | c.440A>C (p.Gln147Pro) n.261A>C | |
4 | g.41746313G>A | CA356738844 | PHOX2B | c.439C>T (p.Gln147Ter) n.260C>T | |
4 | g.41746313G>C | CA356738847 | PHOX2B | c.439C>G (p.Gln147Glu) n.260C>G | |
4 | g.41746313G>T | CA356738846 | PHOX2B | c.439C>A (p.Gln147Lys) n.260C>A | |
4 | g.41746314G>A | CA439142789 | PHOX2B | c.438C>T (p.Phe146=) n.259C>T | dbSNP |
4 | g.41746314G>C | CA356738849 | PHOX2B | c.438C>G (p.Phe146Leu) n.259C>G | |
4 | g.41746314G>T | CA356738853 | PHOX2B | c.438C>A (p.Phe146Leu) n.259C>A | |
4 | g.41746315A>C | CA356738855 | PHOX2B | c.437T>G (p.Phe146Cys) n.258T>G | COSMIC |
4 | g.41746315A>G | CA356738857 | PHOX2B | c.437T>C (p.Phe146Ser) n.258T>C | |
4 | g.41746315A>T | CA356738858 | PHOX2B | c.437T>A (p.Phe146Tyr) n.258T>A | |
4 | g.41746316A>C | CA356738859 | PHOX2B | c.436T>G (p.Phe146Val) n.257T>G | |
4 | g.41746316A>G | CA356738861 | PHOX2B | c.436T>C (p.Phe146Leu) n.257T>C | |
4 | g.41746316A>T | CA356738863 | PHOX2B | c.436T>A (p.Phe146Ile) n.257T>A | |
4 | g.41746317C>A | CA356738865 | PHOX2B | c.435G>T (p.Trp145Cys) n.256G>T | |
4 | g.41746317C>G | CA356738867 | PHOX2B | c.435G>C (p.Trp145Cys) n.256G>C | |
4 | g.41746317C>T | CA356738869 | PHOX2B | c.435G>A (p.Trp145Ter) n.256G>A | |
4 | g.41746318C>A | CA356738874 | PHOX2B | c.434G>T (p.Trp145Leu) n.255G>T | |
4 | g.41746318C>G | CA356738873 | PHOX2B | c.434G>C (p.Trp145Ser) n.255G>C | |
4 | g.41746318C>T | CA356738871 | PHOX2B | c.434G>A (p.Trp145Ter) n.255G>A | |
4 | g.41746319A>C | CA356738879 | PHOX2B | c.433T>G (p.Trp145Gly) n.254T>G | |
4 | g.41746319A>G | CA356738877 | PHOX2B | c.433T>C (p.Trp145Arg) n.254T>C | |
4 | g.41746319A>T | CA356738880 | PHOX2B | c.433T>A (p.Trp145Arg) n.254T>A | |
4 | g.41746319_41746320delinsGA | CA2580071017 | PHOX2B | c.432_433delinsTC (p.Trp145Arg) n.253_254delinsTC | ClinVar |
4 | g.41746320C>A | CA439142790 | PHOX2B | c.432G>T (p.Val144=) n.253G>T | COSMIC |
4 | g.41746320C>G | CA439142791 | PHOX2B | c.432G>C (p.Val144=) n.253G>C | |
4 | g.41746320C>T | CA439142794 | PHOX2B | c.432G>A (p.Val144=) n.253G>A | gnomAD v4 |
4 | g.41746321A>C | CA356738882 | PHOX2B | c.431T>G (p.Val144Gly) n.252T>G | |
4 | g.41746321A>G | CA356738886 | PHOX2B | c.431T>C (p.Val144Ala) n.252T>C | |
4 | g.41746321A>T | CA356738884 | PHOX2B | c.431T>A (p.Val144Glu) n.252T>A | |
4 | g.41746322C>A | CA356738888 | PHOX2B | c.430G>T (p.Val144Leu) n.251G>T | |
4 | g.41746322C>G | CA356738891 | PHOX2B | c.430G>C (p.Val144Leu) n.251G>C | |
4 | g.41746322C>T | CA356738889 | PHOX2B | c.430G>A (p.Val144Met) n.251G>A | |
4 | g.41746323C>A | CA356738894 | PHOX2B | c.430-1G>T (n.430-1G>T) n.251-1G>T | |
4 | g.41746323C>G | CA356738895 | PHOX2B | c.430-1G>C (n.430-1G>C) n.251-1G>C | |
4 | g.41746323C>T | CA356738896 | PHOX2B | c.430-1G>A (n.430-1G>A) n.251-1G>A | |
4 | g.41746324T>A | CA356738898 | PHOX2B | c.430-2A>T (n.430-2A>T) n.251-2A>T | |
4 | g.41746324T>C | CA356738900 | PHOX2B | c.430-2A>G (n.430-2A>G) n.251-2A>G | ClinVar dbSNP |
4 | g.41746324T>G | CA356738902 | PHOX2B | c.430-2A>C (n.430-2A>C) n.251-2A>C | |
4 | g.41746325G>A | CA2580071018 | PHOX2B | c.430-3C>T (n.430-3C>T) n.251-3C>T | ClinVar gnomAD v4 |
4 | g.41746326G>A | CA2670427178 | PHOX2B | c.430-4C>T (n.430-4C>T) n.251-4C>T | gnomAD v4 |
4 | g.41746326G>T | CA2670427179 | PHOX2B | c.430-4C>A (n.430-4C>A) n.251-4C>A | gnomAD v4 |
4 | g.41746327C>G | CA2670427180 | PHOX2B | c.430-5G>C (n.430-5G>C) n.251-5G>C | gnomAD v4 |
4 | g.41746327C>T | CA2901496 | PHOX2B | c.430-5G>A (n.430-5G>A) n.251-5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.41746328C>G | CA95828659 | PHOX2B | c.430-6G>C (n.430-6G>C) n.251-6G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.41746329C>G | CA2580071019 | PHOX2B | c.430-7G>C (n.430-7G>C) n.251-7G>C | ClinVar gnomAD v4 |
4 | g.41746329C>T | CA2580071020 | PHOX2B | c.430-7G>A (n.430-7G>A) n.251-7G>A | ClinVar |
4 | g.41746330A>C | CA2499217212 | PHOX2B | c.430-8T>G (n.430-8T>G) n.251-8T>G | ClinVar dbSNP gnomAD v4 |
4 | g.41746330A>G | CA2499217213 | PHOX2B | c.430-8T>C (n.430-8T>C) n.251-8T>C | ClinVar dbSNP gnomAD v4 |
4 | g.41746333A>G | CA2578074978 | PHOX2B | c.430-11T>C (n.430-11T>C) n.251-11T>C | ClinVar |
4 | g.41746334C>T | CA794915167 | PHOX2B | c.430-12G>A (n.430-12G>A) n.251-12G>A | ClinVar dbSNP gnomAD v4 |
4 | g.41746335G>A | CA2580071021 | PHOX2B | c.430-13C>T (n.430-13C>T) n.251-13C>T | ClinVar gnomAD v4 |
4 | g.41746335G>C | CA2901497 | PHOX2B | c.430-13C>G (n.430-13C>G) n.251-13C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.41746336G>T | CA2670427181 | PHOX2B | c.430-14C>A (n.430-14C>A) n.251-14C>A | gnomAD v4 |
4 | g.41746337A>C | CA2573137673 | PHOX2B | c.430-15T>G (n.430-15T>G) n.251-15T>G | ClinVar dbSNP |