| 20 | g.44159927_44159942delinsGTGGTGGCGTCGATAT | CA2365647606 | JPH2 | c.845_860delinsATATCGACGCCACCAC (p.Asp282=)
| |
| 20 | g.44159928_44159942del | CA2365647609 | JPH2 | c.845_859del (p.Asp282_Thr287delinsAla)
| dbSNP |
| 20 | g.44159936_44159938dup | CA2652956459 | JPH2 | c.851_853dup (p.Asp284_Ala285insAsp)
| gnomAD v4 |
| 20 | g.44159935G>A | CA9868799 | JPH2 | c.852C>T (p.Asp284=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44159935G>C | CA314629401 | JPH2 | c.852C>G (p.Asp284Glu)
| dbSNP |
| 20 | g.44159935G= | CA2365647616 | JPH2 | c.852C= (p.Asp284=)
| |
| 20 | g.44159935G>T | CA409093536 | JPH2 | c.852C>A (p.Asp284Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44159936T>A | CA409093537 | JPH2 | c.851A>T (p.Asp284Val)
| |
| 20 | g.44159936T>C | CA409093539 | JPH2 | c.851A>G (p.Asp284Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159936T>G | CA409093538 | JPH2 | c.851A>C (p.Asp284Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159936T= | CA2365647617 | JPH2 | c.851A= (p.Asp284=)
| |
| 20 | g.44159937C>A | CA409093540 | JPH2 | c.850G>T (p.Asp284Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159937C= | CA2365647618 | JPH2 | c.850G= (p.Asp284=)
| |
| 20 | g.44159937C>G | CA409093541 | JPH2 | c.850G>C (p.Asp284His)
| |
| 20 | g.44159937C>T | CA314629403 | JPH2 | c.850G>A (p.Asp284Asn)
| dbSNP gnomAD v4 |
| 20 | g.44159937_44159938delinsCG | CA2365647619 | JPH2 | c.849_850delinsCG (p.Ile283=)
| |
| 20 | g.44159938del | CA1017795437 | JPH2 | c.849del (p.Ile283MetfsTer23)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159938G>A | CA510739588 | JPH2 | c.849C>T (p.Ile283=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44159938G>C | CA409093542 | JPH2 | c.849C>G (p.Ile283Met)
| |
| 20 | g.44159938G= | CA2365647621 | JPH2 | c.849C= (p.Ile283=)
| |
| 20 | g.44159938G>T | CA510739586 | JPH2 | c.849C>A (p.Ile283=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44159938_44159939delinsGA | CA2365647620 | JPH2 | c.848_849delinsTC (p.Ile283=)
| |
| 20 | g.44159939del | CA636173662 | JPH2 | c.848del (p.Ile283ThrfsTer23)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159939A>C | CA409093543 | JPH2 | c.848T>G (p.Ile283Ser)
| |
| 20 | g.44159939A>G | CA409093544 | JPH2 | c.848T>C (p.Ile283Thr)
| gnomAD v4 |
| 20 | g.44159939A>T | CA409093545 | JPH2 | c.848T>A (p.Ile283Asn)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159940T>A | CA409093546 | JPH2 | c.847A>T (p.Ile283Phe)
| |
| 20 | g.44159940T>C | CA409093547 | JPH2 | c.847A>G (p.Ile283Val)
| gnomAD v4 |
| 20 | g.44159940T>G | CA409093548 | JPH2 | c.847A>C (p.Ile283Leu)
| |
| 20 | g.44159940T= | CA2365647622 | JPH2 | c.847A= (p.Ile283=)
| |
| 20 | g.44159940_44159941insTAAAA | CA1017795447 | JPH2 | c.846_847insTTTTA (p.Ile283PhefsTer2)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159940_44159941insTAAAAA | CA1017795448 | JPH2 | c.846_847insTTTTTA (p.Asp282_Ile283insPheLeu)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159940_44159941insTAACAA | CA1017795449 | JPH2 | c.846_847insTTGTTA (p.Asp282_Ile283insLeuLeu)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159941A= | CA2365647623 | JPH2 | c.846T= (p.Asp282=)
| |
| 20 | g.44159941A>C | CA409093550 | JPH2 | c.846T>G (p.Asp282Glu)
| |
| 20 | g.44159941A>G | CA314629407 | JPH2 | c.846T>C (p.Asp282=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44159941A>T | CA409093549 | JPH2 | c.846T>A (p.Asp282Glu)
| |
| 20 | g.44159941_44159945delinsATCGG | CA2365647624 | JPH2 | c.842_846delinsCCGAT (p.Ala281=)
| |
| 20 | g.44159942T>A | CA409093551 | JPH2 | c.845A>T (p.Asp282Val)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159942T>C | CA409093552 | JPH2 | c.845A>G (p.Asp282Gly)
| |
| 20 | g.44159942T>G | CA409093553 | JPH2 | c.845A>C (p.Asp282Ala)
| |
| 20 | g.44159942_44159945del | CA1017795450 | JPH2 | c.842_845del (p.Ala281ValfsTer24)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159942_44159945delinsTCGG | CA2365647625 | JPH2 | c.842_845delinsCCGA (p.Ala281=)
| |
| 20 | g.44159942_44159946del | CA1017795451 | JPH2 | c.841_845del (p.Ala281TyrfsTer?)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159943C>A | CA409093554 | JPH2 | c.844G>T (p.Asp282Tyr)
| |
| 20 | g.44159943C= | CA2365647626 | JPH2 | c.844G= (p.Asp282=)
| |
| 20 | g.44159943C>G | CA409093555 | JPH2 | c.844G>C (p.Asp282His)
| dbSNP |
| 20 | g.44159943C>T | CA409093556 | JPH2 | c.844G>A (p.Asp282Asn)
| gnomAD v4 |
| 20 | g.44159944_44159946del | CA636173663 | JPH2 | c.842_844del (p.Ala281del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159944_44159947del | CA1017795452 | JPH2 | c.841_844del (p.Ala281IlefsTer24)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159943_44159950delinsCGGCCTCG | CA2365647627 | JPH2 | c.837_844delinsCGAGGCCG (p.Phe279=)
| |
| 20 | g.44159951_44159965dup | CA2737024103 | JPH2 | c.830_844dup (p.Ala281_Asp282insAlaProPheGluAla)
| dbSNP |
| 20 | g.44159951_44159965del | CA2652956460 | JPH2 | c.830_844del (p.Ala277_Ala281del)
| gnomAD v4 |
| 20 | g.44159943_44159944insATTAAA | CA1017795453 | JPH2 | c.843_844insTTTAAT (p.Ala281_Asp282insPheAsn)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159944G>A | CA9868800 | JPH2 | c.843C>T (p.Ala281=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159944G>C | CA510739597 | JPH2 | c.843C>G (p.Ala281=)
| dbSNP gnomAD v4 |
| 20 | g.44159944G= | CA2365647628 | JPH2 | c.843C= (p.Ala281=)
| |
| 20 | g.44159944G>T | CA9868801 | JPH2 | c.843C>A (p.Ala281=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159944_44159945del | CA1017795454 | JPH2 | c.842_843del (p.Ala281GlyfsTer?)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159944_44159950del | CA636173664 | JPH2 | c.837_843del (p.Phe279LeufsTer25)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159945G>A | CA409093557 | JPH2 | c.842C>T (p.Ala281Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159945G>C | CA409093558 | JPH2 | c.842C>G (p.Ala281Gly)
| |
| 20 | g.44159945G= | CA2365647629 | JPH2 | c.842C= (p.Ala281=)
| |
| 20 | g.44159945G>T | CA409093559 | JPH2 | c.842C>A (p.Ala281Asp)
| |
| 20 | g.44159945_44159946insATTAAAAA | CA1017795458 | JPH2 | c.841_842insTTTTTAAT (p.Ala281ValfsTer28)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159946C>A | CA409093560 | JPH2 | c.841G>T (p.Ala281Ser)
| gnomAD v4 |
| 20 | g.44159946C= | CA2365647630 | JPH2 | c.841G= (p.Ala281=)
| |
| 20 | g.44159946C>G | CA409093561 | JPH2 | c.841G>C (p.Ala281Pro)
| |
| 20 | g.44159946C>T | CA409093562 | JPH2 | c.841G>A (p.Ala281Thr)
| gnomAD v4 |
| 20 | g.44159946_44159947insATTAAAAAA | CA636173665 | JPH2 | c.840_841insTTTTTTAAT (p.Glu280_Ala281insPhePheAsn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159947C>A | CA409093563 | JPH2 | c.840G>T (p.Glu280Asp)
| |
| 20 | g.44159947C>G | CA409093564 | JPH2 | c.840G>C (p.Glu280Asp)
| |
| 20 | g.44159947C>T | CA510739604 | JPH2 | c.840G>A (p.Glu280=)
| |
| 20 | g.44159947_44159948delinsCT | CA2365647631 | JPH2 | c.839_840delinsAG (p.Glu280=)
| |
| 20 | g.44159948del | CA2365647632 | JPH2 | c.839del (p.Glu280GlyfsTer26)
| dbSNP |
| 20 | g.44159948T>A | CA409093565 | JPH2 | c.839A>T (p.Glu280Val)
| gnomAD v4 |
| 20 | g.44159948T>C | CA409093566 | JPH2 | c.839A>G (p.Glu280Gly)
| |
| 20 | g.44159948T>G | CA409093567 | JPH2 | c.839A>C (p.Glu280Ala)
| |
| 20 | g.44159949C>A | CA409093568 | JPH2 | c.838G>T (p.Glu280Ter)
| gnomAD v4 |
| 20 | g.44159949C= | CA2365647633 | JPH2 | c.838G= (p.Glu280=)
| |
| 20 | g.44159949C>G | CA9868803 | JPH2 | c.838G>C (p.Glu280Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159949C>T | CA9868802 | JPH2 | c.838G>A (p.Glu280Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44159949_44159950insAT | CA2365647634 | JPH2 | c.837_838insAT (p.Glu280MetfsTer27)
| dbSNP |
| 20 | g.44159950G>A | CA9868804 | JPH2 | c.837C>T (p.Phe279=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159950G>C | CA409093569 | JPH2 | c.837C>G (p.Phe279Leu)
| |
| 20 | g.44159950G= | CA2365647635 | JPH2 | c.837C= (p.Phe279=)
| |
| 20 | g.44159950G>T | CA409093570 | JPH2 | c.837C>A (p.Phe279Leu)
| gnomAD v4 |
| 20 | g.44159951A= | CA2365647636 | JPH2 | c.836T= (p.Phe279=)
| |
| 20 | g.44159951A>C | CA409093571 | JPH2 | c.836T>G (p.Phe279Cys)
| gnomAD v3 gnomAD v4 |
| 20 | g.44159951A>G | CA409093572 | JPH2 | c.836T>C (p.Phe279Ser)
| |
| 20 | g.44159951A>T | CA409093573 | JPH2 | c.836T>A (p.Phe279Tyr)
| dbSNP |
| 20 | g.44159951_44159952insTTAAAAAAAAAAA | CA636173666 | JPH2 | c.836_837insTTTTTTTTTTAAT (p.Glu280PhefsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159952A>C | CA409093576 | JPH2 | c.835T>G (p.Phe279Val)
| |
| 20 | g.44159952A>G | CA409093575 | JPH2 | c.835T>C (p.Phe279Leu)
| gnomAD v4 |
| 20 | g.44159952A>T | CA409093574 | JPH2 | c.835T>A (p.Phe279Ile)
| |
| 20 | g.44159953G>A | CA9868805 | JPH2 | c.834C>T (p.Pro278=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159953G>C | CA510739617 | JPH2 | c.834C>G (p.Pro278=)
| |
| 20 | g.44159953G= | CA2365647637 | JPH2 | c.834C= (p.Pro278=)
| |
| 20 | g.44159953G>T | CA510739618 | JPH2 | c.834C>A (p.Pro278=)
| gnomAD v4 |
| 20 | g.44159953_44159964delinsGGGTGCGGCCTC | CA2365647638 | JPH2 | c.823_834delinsGAGGCCGCACCC (p.Glu275=)
| |
| 20 | g.44159954G>A | CA409093579 | JPH2 | c.833C>T (p.Pro278Leu)
| COSMIC |
| 20 | g.44159954G>C | CA409093577 | JPH2 | c.833C>G (p.Pro278Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159954G= | CA2365647640 | JPH2 | c.833C= (p.Pro278=)
| |
| 20 | g.44159954G>T | CA409093578 | JPH2 | c.833C>A (p.Pro278His)
| gnomAD v4 |
| 20 | g.44159955_44159965del | CA2365647639 | JPH2 | c.823_833del (p.Glu275LeufsTer?)
| dbSNP |
| 20 | g.44159955G>A | CA409093580 | JPH2 | c.832C>T (p.Pro278Ser)
| |
| 20 | g.44159955G>C | CA409093581 | JPH2 | c.832C>G (p.Pro278Ala)
| gnomAD v4 |
| 20 | g.44159955G>T | CA409093582 | JPH2 | c.832C>A (p.Pro278Thr)
| gnomAD v4 |
| 20 | g.44159956T>A | CA510739623 | JPH2 | c.831A>T (p.Ala277=)
| |
| 20 | g.44159956T>C | CA510739624 | JPH2 | c.831A>G (p.Ala277=)
| ClinVar |
| 20 | g.44159956T>G | CA510739627 | JPH2 | c.831A>C (p.Ala277=)
| dbSNP gnomAD v4 COSMIC |
| 20 | g.44159956T= | CA2365647642 | JPH2 | c.831A= (p.Ala277=)
| |
| 20 | g.44159956_44159977delinsTGCGGCCTCGTCGGCGCCCTCG | CA2365647641 | JPH2 | c.810_831delinsCGAGGGCGCCGACGAGGCCGCA (p.Ala270=)
| |
| 20 | g.44159957G>A | CA409093585 | JPH2 | c.830C>T (p.Ala277Val)
| |
| 20 | g.44159957G>C | CA409093584 | JPH2 | c.830C>G (p.Ala277Gly)
| |
| 20 | g.44159957G>T | CA409093583 | JPH2 | c.830C>A (p.Ala277Glu)
| gnomAD v4 |
| 20 | g.44159960_44159971dup | CA2365647643 | JPH2 | c.819_830dup (p.Ala277_Pro278insAspGluAlaAla)
| dbSNP |
| 20 | g.44159965_44159985del | CA636173667 | JPH2 | c.810_830del (p.Glu271_Ala277del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159958C>A | CA9868806 | JPH2 | c.829G>T (p.Ala277Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159958C= | CA2365647644 | JPH2 | c.829G= (p.Ala277=)
| |
| 20 | g.44159958C>G | CA409093586 | JPH2 | c.829G>C (p.Ala277Pro)
| gnomAD v4 |
| 20 | g.44159958C>T | CA409093587 | JPH2 | c.829G>A (p.Ala277Thr)
| gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44159959G>A | CA510739635 | JPH2 | c.828C>T (p.Ala276=)
| dbSNP gnomAD v4 COSMIC |
| 20 | g.44159959G>C | CA510739634 | JPH2 | c.828C>G (p.Ala276=)
| |
| 20 | g.44159959G= | CA2365647645 | JPH2 | c.828C= (p.Ala276=)
| |
| 20 | g.44159959G>T | CA510739633 | JPH2 | c.828C>A (p.Ala276=)
| gnomAD v4 |
| 20 | g.44159960G>A | CA9868807 | JPH2 | c.827C>T (p.Ala276Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159960G>C | CA409093588 | JPH2 | c.827C>G (p.Ala276Gly)
| |
| 20 | g.44159960G= | CA2365647646 | JPH2 | c.827C= (p.Ala276=)
| |
| 20 | g.44159960G>T | CA409093589 | JPH2 | c.827C>A (p.Ala276Asp)
| gnomAD v4 |
| 20 | g.44159960_44159961insTACT | CA2652956461 | JPH2 | c.826_827insAGTA (p.Ala276GlufsTer?)
| gnomAD v4 |
| 20 | g.44159961C>A | CA409093590 | JPH2 | c.826G>T (p.Ala276Ser)
| gnomAD v4 |
| 20 | g.44159961C= | CA2365647648 | JPH2 | c.826G= (p.Ala276=)
| |
| 20 | g.44159961C>G | CA409093592 | JPH2 | c.826G>C (p.Ala276Pro)
| |
| 20 | g.44159961C>T | CA409093591 | JPH2 | c.826G>A (p.Ala276Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159966_44159977dup | CA2365647647 | JPH2 | c.815_826dup (p.Glu275_Ala276insGlyAlaAspGlu)
| dbSNP |
| 20 | g.44159962C>A | CA409093593 | JPH2 | c.825G>T (p.Glu275Asp)
| |
| 20 | g.44159962C>G | CA409093594 | JPH2 | c.825G>C (p.Glu275Asp)
| |
| 20 | g.44159962C>T | CA510739636 | JPH2 | c.825G>A (p.Glu275=)
| |
| 20 | g.44159963T>A | CA409093595 | JPH2 | c.824A>T (p.Glu275Val)
| |
| 20 | g.44159963T>C | CA409093596 | JPH2 | c.824A>G (p.Glu275Gly)
| |
| 20 | g.44159963T>G | CA409093597 | JPH2 | c.824A>C (p.Glu275Ala)
| |
| 20 | g.44159964C>A | CA409093598 | JPH2 | c.823G>T (p.Glu275Ter)
| |
| 20 | g.44159964C= | CA2365647649 | JPH2 | c.823G= (p.Glu275=)
| |
| 20 | g.44159964C>G | CA9868808 | JPH2 | c.823G>C (p.Glu275Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159964C>T | CA409093599 | JPH2 | c.823G>A (p.Glu275Lys)
| ClinVar gnomAD v4 |
| 20 | g.44159965G>A | CA510739642 | JPH2 | c.822C>T (p.Asp274=)
| gnomAD v4 COSMIC |
| 20 | g.44159965G>C | CA409093600 | JPH2 | c.822C>G (p.Asp274Glu)
| |
| 20 | g.44159965G= | CA2365647650 | JPH2 | c.822C= (p.Asp274=)
| |
| 20 | g.44159965G>T | CA409093601 | JPH2 | c.822C>A (p.Asp274Glu)
| dbSNP gnomAD v4 |
| 20 | g.44159965_44159966delinsGT | CA2365647651 | JPH2 | c.821_822delinsAC (p.Asp274=)
| |
| 20 | g.44159966del | CA2365647652 | JPH2 | c.821del (p.Asp274AlafsTer?)
| dbSNP |
| 20 | g.44159966T>A | CA409093604 | JPH2 | c.821A>T (p.Asp274Val)
| |
| 20 | g.44159966T>C | CA409093603 | JPH2 | c.821A>G (p.Asp274Gly)
| |
| 20 | g.44159966T>G | CA409093602 | JPH2 | c.821A>C (p.Asp274Ala)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.44159966T= | CA2365647653 | JPH2 | c.821A= (p.Asp274=)
| |
| 20 | g.44159967C>A | CA409093605 | JPH2 | c.820G>T (p.Asp274Tyr)
| gnomAD v4 |
| 20 | g.44159967C= | CA2365647654 | JPH2 | c.820G= (p.Asp274=)
| |
| 20 | g.44159967C>G | CA409093606 | JPH2 | c.820G>C (p.Asp274His)
| |
| 20 | g.44159967C>T | CA9868809 | JPH2 | c.820G>A (p.Asp274Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159971_44159982del | CA2577404048 | JPH2 | c.809_820del (p.Ala270_Ala273del)
| dbSNP |
| 20 | g.44159968G>A | CA510739648 | JPH2 | c.819C>T (p.Ala273=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44159968G>C | CA510739650 | JPH2 | c.819C>G (p.Ala273=)
| dbSNP |
| 20 | g.44159968G= | CA2365647655 | JPH2 | c.819C= (p.Ala273=)
| |
| 20 | g.44159968G>T | CA9868810 | JPH2 | c.819C>A (p.Ala273=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159969dup | CA2652956462 | JPH2 | c.819dup (p.Asp274ArgfsTer?)
| gnomAD v4 |
| 20 | g.44159969G>A | CA409093607 | JPH2 | c.818C>T (p.Ala273Val)
| ClinVar |
| 20 | g.44159969G>C | CA409093608 | JPH2 | c.818C>G (p.Ala273Gly)
| |
| 20 | g.44159969G>T | CA409093609 | JPH2 | c.818C>A (p.Ala273Asp)
| gnomAD v4 |
| 20 | g.44159970C>A | CA9868812 | JPH2 | c.817G>T (p.Ala273Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159970C= | CA2365647656 | JPH2 | c.817G= (p.Ala273=)
| |
| 20 | g.44159970C>G | CA409093610 | JPH2 | c.817G>C (p.Ala273Pro)
| |
| 20 | g.44159970C>T | CA9868811 | JPH2 | c.817G>A (p.Ala273Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159971G>A | CA510739655 | JPH2 | c.816C>T (p.Gly272=)
| gnomAD v4 |
| 20 | g.44159971G>C | CA510739657 | JPH2 | c.816C>G (p.Gly272=)
| |
| 20 | g.44159971G>T | CA510739658 | JPH2 | c.816C>A (p.Gly272=)
| |
| 20 | g.44159972C>A | CA409093611 | JPH2 | c.815G>T (p.Gly272Val)
| |
| 20 | g.44159972C>G | CA409093612 | JPH2 | c.815G>C (p.Gly272Ala)
| |
| 20 | g.44159972C>T | CA409093613 | JPH2 | c.815G>A (p.Gly272Asp)
| |
| 20 | g.44159974del | CA2652956463 | JPH2 | c.815del (p.Gly272AlafsTer?)
| gnomAD v4 |
| 20 | g.44159973C>A | CA409093616 | JPH2 | c.814G>T (p.Gly272Cys)
| gnomAD v4 |
| 20 | g.44159973C>G | CA409093614 | JPH2 | c.814G>C (p.Gly272Arg)
| |
| 20 | g.44159973C>T | CA409093615 | JPH2 | c.814G>A (p.Gly272Ser)
| |
| 20 | g.44159974C>A | CA409093617 | JPH2 | c.813G>T (p.Glu271Asp)
| gnomAD v4 |
| 20 | g.44159974C>G | CA409093618 | JPH2 | c.813G>C (p.Glu271Asp)
| |
| 20 | g.44159974C>T | CA510739662 | JPH2 | c.813G>A (p.Glu271=)
| gnomAD v4 |
| 20 | g.44159975T>A | CA9868813 | JPH2 | c.812A>T (p.Glu271Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159975T>C | CA409093619 | JPH2 | c.812A>G (p.Glu271Gly)
| |
| 20 | g.44159975T>G | CA409093620 | JPH2 | c.812A>C (p.Glu271Ala)
| |
| 20 | g.44159975T= | CA2365647657 | JPH2 | c.812A= (p.Glu271=)
| |
| 20 | g.44159976C>A | CA9868814 | JPH2 | c.811G>T (p.Glu271Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44159976C= | CA2365647658 | JPH2 | c.811G= (p.Glu271=)
| |
| 20 | g.44159976C>G | CA409093621 | JPH2 | c.811G>C (p.Glu271Gln)
| |
| 20 | g.44159976C>T | CA409093622 | JPH2 | c.811G>A (p.Glu271Lys)
| gnomAD v4 |
| 20 | g.44159977G>A | CA9868815 | JPH2 | c.810C>T (p.Ala270=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159977G>C | CA510739665 | JPH2 | c.810C>G (p.Ala270=)
| gnomAD v4 |
| 20 | g.44159977G= | CA2365647659 | JPH2 | c.810C= (p.Ala270=)
| |
| 20 | g.44159977G>T | CA9868816 | JPH2 | c.810C>A (p.Ala270=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159982_44159999dup | CA636173668 | JPH2 | c.793_810dup (p.Ala270_Glu271insSerLeuGlyGluAlaAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159978G>A | CA9868817 | JPH2 | c.809C>T (p.Ala270Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44159978G>C | CA409093623 | JPH2 | c.809C>G (p.Ala270Gly)
| |
| 20 | g.44159978G= | CA2365647660 | JPH2 | c.809C= (p.Ala270=)
| |
| 20 | g.44159978G>T | CA409093624 | JPH2 | c.809C>A (p.Ala270Asp)
| |
| 20 | g.44159978_44159986del | CA2577404049 | JPH2 | c.801_809del (p.Glu268_Ala270del)
| |
| 20 | g.44159979C>A | CA409093626 | JPH2 | c.808G>T (p.Ala270Ser)
| gnomAD v4 |
| 20 | g.44159979C>G | CA409093627 | JPH2 | c.808G>C (p.Ala270Pro)
| |
| 20 | g.44159979C>T | CA409093625 | JPH2 | c.808G>A (p.Ala270Thr)
| gnomAD v4 |
| 20 | g.44159980G>A | CA510739669 | JPH2 | c.807C>T (p.Ala269=)
| dbSNP gnomAD v4 |
| 20 | g.44159980G>C | CA510739670 | JPH2 | c.807C>G (p.Ala269=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44159980G= | CA2365647661 | JPH2 | c.807C= (p.Ala269=)
| |
| 20 | g.44159980G>T | CA510739668 | JPH2 | c.807C>A (p.Ala269=)
| gnomAD v4 |
| 20 | g.44159981G>A | CA409093629 | JPH2 | c.806C>T (p.Ala269Val)
| gnomAD v4 COSMIC |
| 20 | g.44159981G>C | CA409093628 | JPH2 | c.806C>G (p.Ala269Gly)
| |
| 20 | g.44159981G>T | CA409093630 | JPH2 | c.806C>A (p.Ala269Asp)
| gnomAD v4 |
| 20 | g.44159982C>A | CA409093631 | JPH2 | c.805G>T (p.Ala269Ser)
| gnomAD v4 |
| 20 | g.44159982C>G | CA409093633 | JPH2 | c.805G>C (p.Ala269Pro)
| |
| 20 | g.44159982C>T | CA409093632 | JPH2 | c.805G>A (p.Ala269Thr)
| gnomAD v4 |
| 20 | g.44159983C>A | CA409093634 | JPH2 | c.804G>T (p.Glu268Asp)
| gnomAD v4 |
| 20 | g.44159983C>G | CA409093635 | JPH2 | c.804G>C (p.Glu268Asp)
| gnomAD v4 |
| 20 | g.44159983C>T | CA510739672 | JPH2 | c.804G>A (p.Glu268=)
| |
| 20 | g.44159984T>A | CA409093636 | JPH2 | c.803A>T (p.Glu268Val)
| gnomAD v4 |
| 20 | g.44159984T>C | CA409093637 | JPH2 | c.803A>G (p.Glu268Gly)
| gnomAD v4 |
| 20 | g.44159984T>G | CA409093638 | JPH2 | c.803A>C (p.Glu268Ala)
| |
| 20 | g.44159985C>A | CA409093639 | JPH2 | c.802G>T (p.Glu268Ter)
| gnomAD v4 |
| 20 | g.44159985C>G | CA409093640 | JPH2 | c.802G>C (p.Glu268Gln)
| |
| 20 | g.44159985C>T | CA409093641 | JPH2 | c.802G>A (p.Glu268Lys)
| gnomAD v4 |
| 20 | g.44159986T>A | CA510739676 | JPH2 | c.801A>T (p.Gly267=)
| |
| 20 | g.44159986T>C | CA510739678 | JPH2 | c.801A>G (p.Gly267=)
| gnomAD v4 |
| 20 | g.44159986T>G | CA510739677 | JPH2 | c.801A>C (p.Gly267=)
| |
| 20 | g.44159987C>A | CA409093644 | JPH2 | c.800G>T (p.Gly267Val)
| gnomAD v4 |
| 20 | g.44159987C>G | CA409093643 | JPH2 | c.800G>C (p.Gly267Ala)
| |
| 20 | g.44159987C>T | CA409093642 | JPH2 | c.800G>A (p.Gly267Glu)
| ClinVar gnomAD v4 |
| 20 | g.44159989del | CA2652956464 | JPH2 | c.800del (p.Gly267GlufsTer?)
| gnomAD v4 |
| 20 | g.44159988C>A | CA409093645 | JPH2 | c.799G>T (p.Gly267Ter)
| dbSNP gnomAD v4 |
| 20 | g.44159988C= | CA2365647662 | JPH2 | c.799G= (p.Gly267=)
| |
| 20 | g.44159988C>G | CA409093646 | JPH2 | c.799G>C (p.Gly267Arg)
| |
| 20 | g.44159988C>T | CA409093647 | JPH2 | c.799G>A (p.Gly267Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44159989C>A | CA510739680 | JPH2 | c.798G>T (p.Leu266=)
| gnomAD v4 |
| 20 | g.44159989C>G | CA510739682 | JPH2 | c.798G>C (p.Leu266=)
| |
| 20 | g.44159989C>T | CA510739684 | JPH2 | c.798G>A (p.Leu266=)
| gnomAD v4 |
| 20 | g.44159990A= | CA2365647663 | JPH2 | c.797T= (p.Leu266=)
| |
| 20 | g.44159990A>C | CA409093648 | JPH2 | c.797T>G (p.Leu266Arg)
| dbSNP |
| 20 | g.44159990A>G | CA409093649 | JPH2 | c.797T>C (p.Leu266Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159990A>T | CA409093650 | JPH2 | c.797T>A (p.Leu266Gln)
| |
| 20 | g.44159991G>A | CA314629471 | JPH2 | c.796C>T (p.Leu266=)
| dbSNP |
| 20 | g.44159991G>C | CA409093652 | JPH2 | c.796C>G (p.Leu266Val)
| |
| 20 | g.44159991G= | CA2365647664 | JPH2 | c.796C= (p.Leu266=)
| |
| 20 | g.44159991G>T | CA409093651 | JPH2 | c.796C>A (p.Leu266Met)
| gnomAD v4 |
| 20 | g.44159992G>A | CA510739686 | JPH2 | c.795C>T (p.Ser265=)
| gnomAD v4 |
| 20 | g.44159992G>C | CA409093653 | JPH2 | c.795C>G (p.Ser265Arg)
| ClinVar dbSNP |
| 20 | g.44159992G= | CA2365647665 | JPH2 | c.795C= (p.Ser265=)
| |
| 20 | g.44159992G>T | CA409093654 | JPH2 | c.795C>A (p.Ser265Arg)
| gnomAD v4 |
| 20 | g.44159993C>A | CA409093655 | JPH2 | c.794G>T (p.Ser265Ile)
| gnomAD v4 COSMIC |
| 20 | g.44159993C>G | CA409093656 | JPH2 | c.794G>C (p.Ser265Thr)
| |
| 20 | g.44159993C>T | CA409093657 | JPH2 | c.794G>A (p.Ser265Asn)
| |
| 20 | g.44159994T>A | CA409093658 | JPH2 | c.793A>T (p.Ser265Cys)
| |
| 20 | g.44159994T>C | CA409093659 | JPH2 | c.793A>G (p.Ser265Gly)
| ClinVar |
| 20 | g.44159994T>G | CA409093660 | JPH2 | c.793A>C (p.Ser265Arg)
| |
| 20 | g.44159995G>A | CA510739690 | JPH2 | c.792C>T (p.Ala264=)
| gnomAD v4 |
| 20 | g.44159995G>C | CA510739692 | JPH2 | c.792C>G (p.Ala264=)
| |
| 20 | g.44159995G>T | CA510739694 | JPH2 | c.792C>A (p.Ala264=)
| gnomAD v4 |
| 20 | g.44159996G>A | CA409093661 | JPH2 | c.791C>T (p.Ala264Val)
| |
| 20 | g.44159996G>C | CA409093662 | JPH2 | c.791C>G (p.Ala264Gly)
| ClinVar |
| 20 | g.44159996G>T | CA409093663 | JPH2 | c.791C>A (p.Ala264Asp)
| gnomAD v4 |
| 20 | g.44159997C>A | CA409093664 | JPH2 | c.790G>T (p.Ala264Ser)
| gnomAD v4 |
| 20 | g.44159997C>G | CA409093666 | JPH2 | c.790G>C (p.Ala264Pro)
| |
| 20 | g.44159997C>T | CA409093665 | JPH2 | c.790G>A (p.Ala264Thr)
| gnomAD v4 COSMIC |
| 20 | g.44159998G>A | CA510739695 | JPH2 | c.789C>T (p.Thr263=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44159998G>C | CA510739697 | JPH2 | c.789C>G (p.Thr263=)
| dbSNP gnomAD v2 |
| 20 | g.44159998G= | CA2365647666 | JPH2 | c.789C= (p.Thr263=)
| |
| 20 | g.44159998G>T | CA510739699 | JPH2 | c.789C>A (p.Thr263=)
| gnomAD v4 |
| 20 | g.44159999G>A | CA409093667 | JPH2 | c.788C>T (p.Thr263Ile)
| gnomAD v4 |
| 20 | g.44159999G>C | CA409093668 | JPH2 | c.788C>G (p.Thr263Ser)
| |
| 20 | g.44159999G>T | CA409093669 | JPH2 | c.788C>A (p.Thr263Asn)
| gnomAD v4 |
| 20 | g.44160000T>A | CA409093670 | JPH2 | c.787A>T (p.Thr263Ser)
| |
| 20 | g.44160000T>C | CA409093671 | JPH2 | c.787A>G (p.Thr263Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160000T>G | CA409093672 | JPH2 | c.787A>C (p.Thr263Pro)
| dbSNP |
| 20 | g.44160000T= | CA2365647667 | JPH2 | c.787A= (p.Thr263=)
| |
| 20 | g.44160001G>A | CA510739701 | JPH2 | c.786C>T (p.Ser262=)
| dbSNP gnomAD v4 |
| 20 | g.44160001G>C | CA510739702 | JPH2 | c.786C>G (p.Ser262=)
| |
| 20 | g.44160001G= | CA2365647668 | JPH2 | c.786C= (p.Ser262=)
| |
| 20 | g.44160001G>T | CA510739703 | JPH2 | c.786C>A (p.Ser262=)
| gnomAD v4 |
| 20 | g.44160002G>A | CA409093673 | JPH2 | c.785C>T (p.Ser262Phe)
| |
| 20 | g.44160002G>C | CA409093674 | JPH2 | c.785C>G (p.Ser262Cys)
| |
| 20 | g.44160002G>T | CA409093675 | JPH2 | c.785C>A (p.Ser262Tyr)
| gnomAD v4 |
| 20 | g.44160003A= | CA2365647669 | JPH2 | c.784T= (p.Ser262=)
| |
| 20 | g.44160003A>C | CA409093676 | JPH2 | c.784T>G (p.Ser262Ala)
| |
| 20 | g.44160003A>G | CA409093677 | JPH2 | c.784T>C (p.Ser262Pro)
| dbSNP gnomAD v4 |
| 20 | g.44160003A>T | CA409093678 | JPH2 | c.784T>A (p.Ser262Thr)
| gnomAD v4 |
| 20 | g.44160004C>A | CA510739705 | JPH2 | c.783G>T (p.Ala261=)
| gnomAD v4 |
| 20 | g.44160004C= | CA2365647670 | JPH2 | c.783G= (p.Ala261=)
| |
| 20 | g.44160004C>G | CA9868818 | JPH2 | c.783G>C (p.Ala261=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160004C>T | CA510739706 | JPH2 | c.783G>A (p.Ala261=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.44160005G>A | CA409093679 | JPH2 | c.782C>T (p.Ala261Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160005G>C | CA409093681 | JPH2 | c.782C>G (p.Ala261Gly)
| |
| 20 | g.44160005G= | CA2365647671 | JPH2 | c.782C= (p.Ala261=)
| |
| 20 | g.44160005G>T | CA409093680 | JPH2 | c.782C>A (p.Ala261Glu)
| gnomAD v4 |
| 20 | g.44160006C>A | CA409093682 | JPH2 | c.781G>T (p.Ala261Ser)
| gnomAD v4 |
| 20 | g.44160006C= | CA2365647672 | JPH2 | c.781G= (p.Ala261=)
| |
| 20 | g.44160006C>G | CA409093683 | JPH2 | c.781G>C (p.Ala261Pro)
| dbSNP |
| 20 | g.44160006C>T | CA9868819 | JPH2 | c.781G>A (p.Ala261Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44160007G>A | CA9868820 | JPH2 | c.780C>T (p.Ala260=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160007G>C | CA510739708 | JPH2 | c.780C>G (p.Ala260=)
| |
| 20 | g.44160007G= | CA2365647673 | JPH2 | c.780C= (p.Ala260=)
| |
| 20 | g.44160007G>T | CA510739709 | JPH2 | c.780C>A (p.Ala260=)
| gnomAD v4 |
| 20 | g.44160008G>A | CA409093684 | JPH2 | c.779C>T (p.Ala260Val)
| gnomAD v4 |
| 20 | g.44160008G>C | CA409093685 | JPH2 | c.779C>G (p.Ala260Gly)
| |
| 20 | g.44160008G>T | CA409093686 | JPH2 | c.779C>A (p.Ala260Asp)
| gnomAD v4 |
| 20 | g.44160009C>A | CA409093687 | JPH2 | c.778G>T (p.Ala260Ser)
| gnomAD v4 |
| 20 | g.44160009C= | CA2365647674 | JPH2 | c.778G= (p.Ala260=)
| |
| 20 | g.44160009C>G | CA409093688 | JPH2 | c.778G>C (p.Ala260Pro)
| |
| 20 | g.44160009C>T | CA409093689 | JPH2 | c.778G>A (p.Ala260Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160010G>A | CA510739711 | JPH2 | c.777C>T (p.Asp259=)
| gnomAD v4 |
| 20 | g.44160010G>C | CA409093691 | JPH2 | c.777C>G (p.Asp259Glu)
| |
| 20 | g.44160010G>T | CA409093690 | JPH2 | c.777C>A (p.Asp259Glu)
| gnomAD v4 |
| 20 | g.44160011T>A | CA409093692 | JPH2 | c.776A>T (p.Asp259Val)
| |
| 20 | g.44160011T>C | CA409093694 | JPH2 | c.776A>G (p.Asp259Gly)
| |
| 20 | g.44160011T>G | CA409093693 | JPH2 | c.776A>C (p.Asp259Ala)
| |
| 20 | g.44160012C>A | CA409093695 | JPH2 | c.775G>T (p.Asp259Tyr)
| gnomAD v4 |
| 20 | g.44160012C= | CA2365647675 | JPH2 | c.775G= (p.Asp259=)
| |
| 20 | g.44160012C>G | CA409093696 | JPH2 | c.775G>C (p.Asp259His)
| |
| 20 | g.44160012C>T | CA409093697 | JPH2 | c.775G>A (p.Asp259Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160013G>A | CA510739712 | JPH2 | c.774C>T (p.Ser258=)
| ClinVar gnomAD v4 COSMIC |
| 20 | g.44160013G>C | CA409093698 | JPH2 | c.774C>G (p.Ser258Arg)
| |
| 20 | g.44160013G>T | CA409093699 | JPH2 | c.774C>A (p.Ser258Arg)
| gnomAD v4 |
| 20 | g.44160014C>A | CA409093700 | JPH2 | c.773G>T (p.Ser258Ile)
| gnomAD v4 |
| 20 | g.44160014C>G | CA409093701 | JPH2 | c.773G>C (p.Ser258Thr)
| |
| 20 | g.44160014C>T | CA409093702 | JPH2 | c.773G>A (p.Ser258Asn)
| gnomAD v4 |
| 20 | g.44160015T>A | CA409093703 | JPH2 | c.772A>T (p.Ser258Cys)
| |
| 20 | g.44160015T>C | CA409093704 | JPH2 | c.772A>G (p.Ser258Gly)
| gnomAD v4 |
| 20 | g.44160015T>G | CA409093705 | JPH2 | c.772A>C (p.Ser258Arg)
| |
| 20 | g.44160016G>A | CA510739714 | JPH2 | c.771C>T (p.Ala257=)
| dbSNP gnomAD v4 |
| 20 | g.44160016G>C | CA510739715 | JPH2 | c.771C>G (p.Ala257=)
| |
| 20 | g.44160016G= | CA2365647676 | JPH2 | c.771C= (p.Ala257=)
| |
| 20 | g.44160016G>T | CA510739717 | JPH2 | c.771C>A (p.Ala257=)
| gnomAD v4 |
| 20 | g.44160017_44160025del | CA2652956465 | JPH2 | c.763_771del (p.Ser255_Ala257del)
| gnomAD v4 |
| 20 | g.44160017G>A | CA409093708 | JPH2 | c.770C>T (p.Ala257Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160017G>C | CA409093707 | JPH2 | c.770C>G (p.Ala257Gly)
| |
| 20 | g.44160017G= | CA2365647677 | JPH2 | c.770C= (p.Ala257=)
| |
| 20 | g.44160017G>T | CA409093706 | JPH2 | c.770C>A (p.Ala257Asp)
| gnomAD v4 |
| 20 | g.44160018C>A | CA314629490 | JPH2 | c.769G>T (p.Ala257Ser)
| dbSNP gnomAD v4 |
| 20 | g.44160018C= | CA2365647678 | JPH2 | c.769G= (p.Ala257=)
| |
| 20 | g.44160018C>G | CA409093709 | JPH2 | c.769G>C (p.Ala257Pro)
| |
| 20 | g.44160018C>T | CA409093710 | JPH2 | c.769G>A (p.Ala257Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160019G>A | CA510739718 | JPH2 | c.768C>T (p.Gly256=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160019G>C | CA510739719 | JPH2 | c.768C>G (p.Gly256=)
| |
| 20 | g.44160019G= | CA2365647679 | JPH2 | c.768C= (p.Gly256=)
| |
| 20 | g.44160019G>T | CA510739721 | JPH2 | c.768C>A (p.Gly256=)
| gnomAD v4 |
| 20 | g.44160020C>A | CA409093711 | JPH2 | c.767G>T (p.Gly256Val)
| |
| 20 | g.44160020C>G | CA409093712 | JPH2 | c.767G>C (p.Gly256Ala)
| COSMIC |
| 20 | g.44160020C>T | CA409093713 | JPH2 | c.767G>A (p.Gly256Asp)
| |
| 20 | g.44160021C>A | CA409093714 | JPH2 | c.766G>T (p.Gly256Cys)
| gnomAD v4 |
| 20 | g.44160021C>G | CA409093715 | JPH2 | c.766G>C (p.Gly256Arg)
| |
| 20 | g.44160021C>T | CA409093716 | JPH2 | c.766G>A (p.Gly256Ser)
| gnomAD v4 |
| 20 | g.44160022C>A | CA510739724 | JPH2 | c.765G>T (p.Ser255=)
| ClinVar gnomAD v4 |
| 20 | g.44160022C>G | CA510739725 | JPH2 | c.765G>C (p.Ser255=)
| gnomAD v4 |
| 20 | g.44160022C>T | CA510739726 | JPH2 | c.765G>A (p.Ser255=)
| gnomAD v4 |
| 20 | g.44160023G>A | CA409093717 | JPH2 | c.764C>T (p.Ser255Leu)
| gnomAD v4 |
| 20 | g.44160023G>C | CA409093718 | JPH2 | c.764C>G (p.Ser255Trp)
| gnomAD v4 |
| 20 | g.44160023G>T | CA409093719 | JPH2 | c.764C>A (p.Ser255Ter)
| gnomAD v4 |
| 20 | g.44160024A= | CA2365647680 | JPH2 | c.763T= (p.Ser255=)
| |
| 20 | g.44160024A>C | CA409093722 | JPH2 | c.763T>G (p.Ser255Ala)
| |
| 20 | g.44160024A>G | CA409093721 | JPH2 | c.763T>C (p.Ser255Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160024A>T | CA409093720 | JPH2 | c.763T>A (p.Ser255Thr)
| gnomAD v4 |
| 20 | g.44160025G>A | CA510739727 | JPH2 | c.762C>T (p.Ser254=)
| gnomAD v4 |
| 20 | g.44160025G>C | CA409093723 | JPH2 | c.762C>G (p.Ser254Arg)
| |
| 20 | g.44160025G>T | CA409093724 | JPH2 | c.762C>A (p.Ser254Arg)
| gnomAD v4 |
| 20 | g.44160026C>A | CA409093725 | JPH2 | c.761G>T (p.Ser254Ile)
| gnomAD v4 |
| 20 | g.44160026C>G | CA409093726 | JPH2 | c.761G>C (p.Ser254Thr)
| |
| 20 | g.44160026C>T | CA409093727 | JPH2 | c.761G>A (p.Ser254Asn)
| gnomAD v4 |
| 20 | g.44160027T>A | CA409093728 | JPH2 | c.760A>T (p.Ser254Cys)
| gnomAD v4 |
| 20 | g.44160027T>C | CA409093729 | JPH2 | c.760A>G (p.Ser254Gly)
| |
| 20 | g.44160027T>G | CA409093730 | JPH2 | c.760A>C (p.Ser254Arg)
| |
| 20 | g.44160028G>A | CA510739728 | JPH2 | c.759C>T (p.Leu253=)
| ClinVar gnomAD v4 |
| 20 | g.44160028G>C | CA510739729 | JPH2 | c.759C>G (p.Leu253=)
| |
| 20 | g.44160028G>T | CA510739730 | JPH2 | c.759C>A (p.Leu253=)
| gnomAD v4 |
| 20 | g.44160029A= | CA2365647681 | JPH2 | c.758T= (p.Leu253=)
| |
| 20 | g.44160029A>C | CA409093731 | JPH2 | c.758T>G (p.Leu253Arg)
| |
| 20 | g.44160029A>G | CA409093732 | JPH2 | c.758T>C (p.Leu253Pro)
| dbSNP gnomAD v4 |
| 20 | g.44160029A>T | CA409093733 | JPH2 | c.758T>A (p.Leu253His)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.44160030G>A | CA409093734 | JPH2 | c.757C>T (p.Leu253Phe)
| gnomAD v4 |
| 20 | g.44160030G>C | CA409093735 | JPH2 | c.757C>G (p.Leu253Val)
| |
| 20 | g.44160030G>T | CA409093736 | JPH2 | c.757C>A (p.Leu253Ile)
| gnomAD v4 |
| 20 | g.44160031G>A | CA510739731 | JPH2 | c.756C>T (p.Asp252=)
| gnomAD v4 |
| 20 | g.44160031G>C | CA409093737 | JPH2 | c.756C>G (p.Asp252Glu)
| |
| 20 | g.44160031G>T | CA409093738 | JPH2 | c.756C>A (p.Asp252Glu)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.44160032T>A | CA409093739 | JPH2 | c.755A>T (p.Asp252Val)
| |
| 20 | g.44160032T>C | CA409093740 | JPH2 | c.755A>G (p.Asp252Gly)
| |
| 20 | g.44160032T>G | CA409093741 | JPH2 | c.755A>C (p.Asp252Ala)
| |
| 20 | g.44160033C>A | CA409093742 | JPH2 | c.754G>T (p.Asp252Tyr)
| gnomAD v4 |
| 20 | g.44160033C= | CA2365647682 | JPH2 | c.754G= (p.Asp252=)
| |
| 20 | g.44160033C>G | CA409093743 | JPH2 | c.754G>C (p.Asp252His)
| gnomAD v4 |
| 20 | g.44160033C>T | CA9868821 | JPH2 | c.754G>A (p.Asp252Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44160034G>A | CA510739227 | JPH2 | c.753C>T (p.Ser251=)
| gnomAD v4 |
| 20 | g.44160034G>C | CA9868822 | JPH2 | c.753C>G (p.Ser251Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44160034G= | CA2365647683 | JPH2 | c.753C= (p.Ser251=)
| |
| 20 | g.44160034G>T | CA409093744 | JPH2 | c.753C>A (p.Ser251Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44160035C>A | CA409093745 | JPH2 | c.752G>T (p.Ser251Ile)
| gnomAD v4 |
| 20 | g.44160035C= | CA2365647684 | JPH2 | c.752G= (p.Ser251=)
| |
| 20 | g.44160035C>G | CA409093746 | JPH2 | c.752G>C (p.Ser251Thr)
| |
| 20 | g.44160035C>T | CA409093747 | JPH2 | c.752G>A (p.Ser251Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
