| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.146018514_146018516del | CA2647575368 | HJV | c.842_844del (p.Ile281_Gly282delinsSer) c.164_166del (p.Ile55_Gly56delinsSer) c.503_505del (p.Ile168_Gly169delinsSer) | gnomAD v4 |
| 1 | g.146018516A= | CA1140886750 | HJV | c.842T= (p.Ile281=) c.164T= (p.Ile55=) c.503T= (p.Ile168=) | |
| 1 | g.146018516A>C | CA342136434 | HJV | c.842T>G (p.Ile281Ser) c.164T>G (p.Ile55Ser) c.503T>G (p.Ile168Ser) | |
| 1 | g.146018516A>G | CA252253 | HJV | c.842T>C (p.Ile281Thr) c.164T>C (p.Ile55Thr) c.503T>C (p.Ile168Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.146018516A>T | CA342136443 | HJV | c.842T>A (p.Ile281Asn) c.164T>A (p.Ile55Asn) c.503T>A (p.Ile168Asn) | |
| 1 | g.146018517T>A | CA342136456 | HJV | c.841A>T (p.Ile281Phe) c.163A>T (p.Ile55Phe) c.502A>T (p.Ile168Phe) | ClinVar dbSNP |
| 1 | g.146018517T>C | CA342136461 | HJV | c.841A>G (p.Ile281Val) c.163A>G (p.Ile55Val) c.502A>G (p.Ile168Val) | gnomAD v4 |
| 1 | g.146018517T>G | CA342136462 | HJV | c.841A>C (p.Ile281Leu) c.163A>C (p.Ile55Leu) c.502A>C (p.Ile168Leu) | dbSNP gnomAD v4 |
| 1 | g.146018517T= | CA1198820995 | HJV | c.841A= (p.Ile281=) c.163A= (p.Ile55=) c.502A= (p.Ile168=) | |
| 1 | g.146018518G>A | CA420603561 | HJV | c.840C>T (p.Tyr280=) c.162C>T (p.Tyr54=) c.501C>T (p.Tyr167=) | |
| 1 | g.146018518G>C | CA342136463 | HJV | c.840C>G (p.Tyr280Ter) c.162C>G (p.Tyr54Ter) c.501C>G (p.Tyr167Ter) | |
| 1 | g.146018518G>T | CA342136465 | HJV | c.840C>A (p.Tyr280Ter) c.162C>A (p.Tyr54Ter) c.501C>A (p.Tyr167Ter) | |
| 1 | g.146018519T>A | CA342136467 | HJV | c.839A>T (p.Tyr280Phe) c.161A>T (p.Tyr54Phe) c.500A>T (p.Tyr167Phe) | |
| 1 | g.146018519T>C | CA342136476 | HJV | c.839A>G (p.Tyr280Cys) c.161A>G (p.Tyr54Cys) c.500A>G (p.Tyr167Cys) | dbSNP |
| 1 | g.146018519T>G | CA342136479 | HJV | c.839A>C (p.Tyr280Ser) c.161A>C (p.Tyr54Ser) c.500A>C (p.Tyr167Ser) | |
| 1 | g.146018519T= | CA1198820996 | HJV | c.839A= (p.Tyr280=) c.161A= (p.Tyr54=) c.500A= (p.Tyr167=) | |
| 1 | g.146018520A= | CA1198820997 | HJV | c.838T= (p.Tyr280=) c.160T= (p.Tyr54=) c.499T= (p.Tyr167=) | |
| 1 | g.146018520A>C | CA342136496 | HJV | c.838T>G (p.Tyr280Asp) c.160T>G (p.Tyr54Asp) c.499T>G (p.Tyr167Asp) | |
| 1 | g.146018520A>G | CA342136497 | HJV | c.838T>C (p.Tyr280His) c.160T>C (p.Tyr54His) c.499T>C (p.Tyr167His) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018520A>T | CA342136498 | HJV | c.838T>A (p.Tyr280Asn) c.160T>A (p.Tyr54Asn) c.499T>A (p.Tyr167Asn) | COSMIC |
| 1 | g.146018521G>A | CA420603565 | HJV | c.837C>T (p.Ala279=) c.159C>T (p.Ala53=) c.498C>T (p.Ala166=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018521G>C | CA420603563 | HJV | c.837C>G (p.Ala279=) c.159C>G (p.Ala53=) c.498C>G (p.Ala166=) | |
| 1 | g.146018521G= | CA1198820998 | HJV | c.837C= (p.Ala279=) c.159C= (p.Ala53=) c.498C= (p.Ala166=) | |
| 1 | g.146018521G>T | CA420603566 | HJV | c.837C>A (p.Ala279=) c.159C>A (p.Ala53=) c.498C>A (p.Ala166=) | |
| 1 | g.146018522del | CA2697199172 | HJV | c.837del (p.Tyr280ThrfsTer6) c.159del (p.Tyr54ThrfsTer6) c.498del (p.Tyr167ThrfsTer6) | dbSNP |
| 1 | g.146018522G>A | CA342136503 | HJV | c.836C>T (p.Ala279Val) c.158C>T (p.Ala53Val) c.497C>T (p.Ala166Val) | |
| 1 | g.146018522G>C | CA342136501 | HJV | c.836C>G (p.Ala279Gly) c.158C>G (p.Ala53Gly) c.497C>G (p.Ala166Gly) | |
| 1 | g.146018522G>T | CA342136499 | HJV | c.836C>A (p.Ala279Asp) c.158C>A (p.Ala53Asp) c.497C>A (p.Ala166Asp) | |
| 1 | g.146018523C>A | CA342136505 | HJV | c.835G>T (p.Ala279Ser) c.157G>T (p.Ala53Ser) c.496G>T (p.Ala166Ser) | |
| 1 | g.146018523C>G | CA342136509 | HJV | c.835G>C (p.Ala279Pro) c.157G>C (p.Ala53Pro) c.496G>C (p.Ala166Pro) | |
| 1 | g.146018523C>T | CA342136516 | HJV | c.835G>A (p.Ala279Thr) c.157G>A (p.Ala53Thr) c.496G>A (p.Ala166Thr) | |
| 1 | g.146018524A>C | CA420603570 | HJV | c.834T>G (p.Ala278=) c.156T>G (p.Ala52=) c.495T>G (p.Ala165=) | |
| 1 | g.146018524A>G | CA420603569 | HJV | c.834T>C (p.Ala278=) c.156T>C (p.Ala52=) c.495T>C (p.Ala165=) | |
| 1 | g.146018524A>T | CA420603568 | HJV | c.834T>A (p.Ala278=) c.156T>A (p.Ala52=) c.495T>A (p.Ala165=) | |
| 1 | g.146018525G>A | CA342136522 | HJV | c.833C>T (p.Ala278Val) c.155C>T (p.Ala52Val) c.494C>T (p.Ala165Val) | |
| 1 | g.146018525G>C | CA342136530 | HJV | c.833C>G (p.Ala278Gly) c.155C>G (p.Ala52Gly) c.494C>G (p.Ala165Gly) | |
| 1 | g.146018525G>T | CA342136535 | HJV | c.833C>A (p.Ala278Asp) c.155C>A (p.Ala52Asp) c.494C>A (p.Ala165Asp) | |
| 1 | g.146018526C>A | CA342136542 | HJV | c.832G>T (p.Ala278Ser) c.154G>T (p.Ala52Ser) c.493G>T (p.Ala165Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.146018526C= | CA1198820999 | HJV | c.832G= (p.Ala278=) c.154G= (p.Ala52=) c.493G= (p.Ala165=) | |
| 1 | g.146018526C>G | CA342136538 | HJV | c.832G>C (p.Ala278Pro) c.154G>C (p.Ala52Pro) c.493G>C (p.Ala165Pro) | |
| 1 | g.146018526C>T | CA342136539 | HJV | c.832G>A (p.Ala278Thr) c.154G>A (p.Ala52Thr) c.493G>A (p.Ala165Thr) | |
| 1 | g.146018527T>A | CA342136546 | HJV | c.831A>T (p.Gln277His) c.153A>T (p.Gln51His) c.492A>T (p.Gln164His) | |
| 1 | g.146018527T>C | CA420603574 | HJV | c.831A>G (p.Gln277=) c.153A>G (p.Gln51=) c.492A>G (p.Gln164=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.146018527T>G | CA342136550 | HJV | c.831A>C (p.Gln277His) c.153A>C (p.Gln51His) c.492A>C (p.Gln164His) | |
| 1 | g.146018528T>A | CA342136555 | HJV | c.830A>T (p.Gln277Leu) c.152A>T (p.Gln51Leu) c.491A>T (p.Gln164Leu) | |
| 1 | g.146018528T>C | CA342136557 | HJV | c.830A>G (p.Gln277Arg) c.152A>G (p.Gln51Arg) c.491A>G (p.Gln164Arg) | dbSNP |
| 1 | g.146018528T>G | CA342136560 | HJV | c.830A>C (p.Gln277Pro) c.152A>C (p.Gln51Pro) c.491A>C (p.Gln164Pro) | |
| 1 | g.146018528T= | CA1198821000 | HJV | c.830A= (p.Gln277=) c.152A= (p.Gln51=) c.491A= (p.Gln164=) | |
| 1 | g.146018529G>A | CA342136566 | HJV | c.829C>T (p.Gln277Ter) c.151C>T (p.Gln51Ter) c.490C>T (p.Gln164Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.146018529G>C | CA342136569 | HJV | c.829C>G (p.Gln277Glu) c.151C>G (p.Gln51Glu) c.490C>G (p.Gln164Glu) |