OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.12812848A>C | CA414991659 | USP9Y | c.4405A>C (p.Ile1469Leu) n.4417A>C c.4171A>C (p.Ile1391Leu) c.4420A>C (p.Ile1474Leu) | |
| Y | g.12812848A>G | CA414991654 | USP9Y | c.4405A>G (p.Ile1469Val) n.4417A>G c.4171A>G (p.Ile1391Val) c.4420A>G (p.Ile1474Val) | |
| Y | g.12812848A>T | CA414991657 | USP9Y | c.4405A>T (p.Ile1469Phe) n.4417A>T c.4171A>T (p.Ile1391Phe) c.4420A>T (p.Ile1474Phe) | |
| Y | g.12812849T>A | CA414991663 | USP9Y | c.4406T>A (p.Ile1469Asn) n.4418T>A c.4172T>A (p.Ile1391Asn) c.4421T>A (p.Ile1474Asn) | |
| Y | g.12812849T>C | CA414991666 | USP9Y | c.4406T>C (p.Ile1469Thr) n.4418T>C c.4172T>C (p.Ile1391Thr) c.4421T>C (p.Ile1474Thr) | |
| Y | g.12812849T>G | CA414991668 | USP9Y | c.4406T>G (p.Ile1469Ser) n.4418T>G c.4172T>G (p.Ile1391Ser) c.4421T>G (p.Ile1474Ser) | |
| Y | g.12812850C>A | CA519895200 | USP9Y | c.4407C>A (p.Ile1469=) n.4419C>A c.4173C>A (p.Ile1391=) c.4422C>A (p.Ile1474=) | |
| Y | g.12812850C>G | CA414991672 | USP9Y | c.4407C>G (p.Ile1469Met) n.4419C>G c.4173C>G (p.Ile1391Met) c.4422C>G (p.Ile1474Met) | |
| Y | g.12812850C>T | CA519895195 | USP9Y | c.4407C>T (p.Ile1469=) n.4419C>T c.4173C>T (p.Ile1391=) c.4422C>T (p.Ile1474=) | |
| Y | g.12812851T>A | CA414991676 | USP9Y | c.4408T>A (p.Phe1470Ile) n.4420T>A c.4174T>A (p.Phe1392Ile) c.4423T>A (p.Phe1475Ile) | |
| Y | g.12812851T>C | CA414991679 | USP9Y | c.4408T>C (p.Phe1470Leu) n.4420T>C c.4174T>C (p.Phe1392Leu) c.4423T>C (p.Phe1475Leu) | |
| Y | g.12812851T>G | CA414991680 | USP9Y | c.4408T>G (p.Phe1470Val) n.4420T>G c.4174T>G (p.Phe1392Val) c.4423T>G (p.Phe1475Val) | |
| Y | g.12812852T>A | CA414991683 | USP9Y | c.4409T>A (p.Phe1470Tyr) n.4421T>A c.4175T>A (p.Phe1392Tyr) c.4424T>A (p.Phe1475Tyr) | |
| Y | g.12812852T>C | CA414991686 | USP9Y | c.4409T>C (p.Phe1470Ser) n.4421T>C c.4175T>C (p.Phe1392Ser) c.4424T>C (p.Phe1475Ser) | |
| Y | g.12812852T>G | CA414991689 | USP9Y | c.4409T>G (p.Phe1470Cys) n.4421T>G c.4175T>G (p.Phe1392Cys) c.4424T>G (p.Phe1475Cys) | |
| Y | g.12812853T>A | CA414991691 | USP9Y | c.4410T>A (p.Phe1470Leu) n.4422T>A c.4176T>A (p.Phe1392Leu) c.4425T>A (p.Phe1475Leu) | |
| Y | g.12812853T>C | CA519895229 | USP9Y | c.4410T>C (p.Phe1470=) n.4422T>C c.4176T>C (p.Phe1392=) c.4425T>C (p.Phe1475=) | |
| Y | g.12812853T>G | CA414991693 | USP9Y | c.4410T>G (p.Phe1470Leu) n.4422T>G c.4176T>G (p.Phe1392Leu) c.4425T>G (p.Phe1475Leu) | |
| Y | g.12812854C>A | CA414991704 | USP9Y | c.4411C>A (p.Pro1471Thr) n.4423C>A c.4177C>A (p.Pro1393Thr) c.4426C>A (p.Pro1476Thr) | |
| Y | g.12812854C>G | CA414991707 | USP9Y | c.4411C>G (p.Pro1471Ala) n.4423C>G c.4177C>G (p.Pro1393Ala) c.4426C>G (p.Pro1476Ala) | |
| Y | g.12812854C>T | CA414991709 | USP9Y | c.4411C>T (p.Pro1471Ser) n.4423C>T c.4177C>T (p.Pro1393Ser) c.4426C>T (p.Pro1476Ser) | |
| Y | g.12812855C>A | CA414991712 | USP9Y | c.4412C>A (p.Pro1471His) n.4424C>A c.4178C>A (p.Pro1393His) c.4427C>A (p.Pro1476His) | |
| Y | g.12812855C>G | CA414991715 | USP9Y | c.4412C>G (p.Pro1471Arg) n.4424C>G c.4178C>G (p.Pro1393Arg) c.4427C>G (p.Pro1476Arg) | |
| Y | g.12812855C>T | CA414991718 | USP9Y | c.4412C>T (p.Pro1471Leu) n.4424C>T c.4178C>T (p.Pro1393Leu) c.4427C>T (p.Pro1476Leu) | |
| Y | g.12812856C>A | CA519895249 | USP9Y | c.4413C>A (p.Pro1471=) n.4425C>A c.4179C>A (p.Pro1393=) c.4428C>A (p.Pro1476=) | |
| Y | g.12812856C= | CA2470559336 | USP9Y | c.4413C= (p.Pro1471=) n.4425C= c.4179C= (p.Pro1393=) c.4428C= (p.Pro1476=) | |
| Y | g.12812856C>G | CA519895250 | USP9Y | c.4413C>G (p.Pro1471=) n.4425C>G c.4179C>G (p.Pro1393=) c.4428C>G (p.Pro1476=) | |
| Y | g.12812856C>T | CA10573325 | USP9Y | c.4413C>T (p.Pro1471=) n.4425C>T c.4179C>T (p.Pro1393=) c.4428C>T (p.Pro1476=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12812857G>A | CA414991724 | USP9Y | c.4414G>A (p.Ala1472Thr) n.4426G>A c.4180G>A (p.Ala1394Thr) c.4429G>A (p.Ala1477Thr) | |
| Y | g.12812857G>C | CA414991727 | USP9Y | c.4414G>C (p.Ala1472Pro) n.4426G>C c.4180G>C (p.Ala1394Pro) c.4429G>C (p.Ala1477Pro) | |
| Y | g.12812857G= | CA2470559337 | USP9Y | c.4414G= (p.Ala1472=) n.4426G= c.4180G= (p.Ala1394=) c.4429G= (p.Ala1477=) | |
| Y | g.12812857G>T | CA337720544 | USP9Y | c.4414G>T (p.Ala1472Ser) n.4426G>T c.4180G>T (p.Ala1394Ser) c.4429G>T (p.Ala1477Ser) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.12812858C>A | CA414991738 | USP9Y | c.4415C>A (p.Ala1472Glu) n.4427C>A c.4181C>A (p.Ala1394Glu) c.4430C>A (p.Ala1477Glu) | |
| Y | g.12812858C>G | CA414991735 | USP9Y | c.4415C>G (p.Ala1472Gly) n.4427C>G c.4181C>G (p.Ala1394Gly) c.4430C>G (p.Ala1477Gly) | |
| Y | g.12812858C>T | CA414991732 | USP9Y | c.4415C>T (p.Ala1472Val) n.4427C>T c.4181C>T (p.Ala1394Val) c.4430C>T (p.Ala1477Val) | |
| Y | g.12812859A>C | CA519895267 | USP9Y | c.4416A>C (p.Ala1472=) n.4428A>C c.4182A>C (p.Ala1394=) c.4431A>C (p.Ala1477=) | |
| Y | g.12812859A>G | CA519895271 | USP9Y | c.4416A>G (p.Ala1472=) n.4428A>G c.4182A>G (p.Ala1394=) c.4431A>G (p.Ala1477=) | |
| Y | g.12812859A>T | CA519895275 | USP9Y | c.4416A>T (p.Ala1472=) n.4428A>T c.4182A>T (p.Ala1394=) c.4431A>T (p.Ala1477=) | |
| Y | g.12812860T>A | CA414991740 | USP9Y | c.4417T>A (p.Ser1473Thr) n.4429T>A c.4183T>A (p.Ser1395Thr) c.4432T>A (p.Ser1478Thr) | |
| Y | g.12812860T>C | CA414991742 | USP9Y | c.4417T>C (p.Ser1473Pro) n.4429T>C c.4183T>C (p.Ser1395Pro) c.4432T>C (p.Ser1478Pro) | |
| Y | g.12812860T>G | CA414991744 | USP9Y | c.4417T>G (p.Ser1473Ala) n.4429T>G c.4183T>G (p.Ser1395Ala) c.4432T>G (p.Ser1478Ala) | |
| Y | g.12812861C>A | CA414991748 | USP9Y | c.4418C>A (p.Ser1473Tyr) n.4430C>A c.4184C>A (p.Ser1395Tyr) c.4433C>A (p.Ser1478Tyr) | |
| Y | g.12812861C>G | CA414991750 | USP9Y | c.4418C>G (p.Ser1473Cys) n.4430C>G c.4184C>G (p.Ser1395Cys) c.4433C>G (p.Ser1478Cys) | |
| Y | g.12812861C>T | CA414991751 | USP9Y | c.4418C>T (p.Ser1473Phe) n.4430C>T c.4184C>T (p.Ser1395Phe) c.4433C>T (p.Ser1478Phe) | |
| Y | g.12812862C>A | CA519895295 | USP9Y | c.4419C>A (p.Ser1473=) n.4431C>A c.4185C>A (p.Ser1395=) c.4434C>A (p.Ser1478=) | dbSNP |
| Y | g.12812862C= | CA2470559338 | USP9Y | c.4419C= (p.Ser1473=) n.4431C= c.4185C= (p.Ser1395=) c.4434C= (p.Ser1478=) | |
| Y | g.12812862C>G | CA519895296 | USP9Y | c.4419C>G (p.Ser1473=) n.4431C>G c.4185C>G (p.Ser1395=) c.4434C>G (p.Ser1478=) | |
| Y | g.12812862C>T | CA519895297 | USP9Y | c.4419C>T (p.Ser1473=) n.4431C>T c.4185C>T (p.Ser1395=) c.4434C>T (p.Ser1478=) | |
| Y | g.12812863A>C | CA414991753 | USP9Y | c.4420A>C (p.Lys1474Gln) n.4432A>C c.4186A>C (p.Lys1396Gln) c.4435A>C (p.Lys1479Gln) | |
| Y | g.12812863A>G | CA414991756 | USP9Y | c.4420A>G (p.Lys1474Glu) n.4432A>G c.4186A>G (p.Lys1396Glu) c.4435A>G (p.Lys1479Glu) | |
| Y | g.12812863A>T | CA414991759 | USP9Y | c.4420A>T (p.Lys1474Ter) n.4432A>T c.4186A>T (p.Lys1396Ter) c.4435A>T (p.Lys1479Ter) | |
| Y | g.12812864A= | CA2470559339 | USP9Y | c.4421A= (p.Lys1474=) n.4433A= c.4187A= (p.Lys1396=) c.4436A= (p.Lys1479=) | |
| Y | g.12812864A>C | CA10573326 | USP9Y | c.4421A>C (p.Lys1474Thr) n.4433A>C c.4187A>C (p.Lys1396Thr) c.4436A>C (p.Lys1479Thr) | dbSNP ExAC gnomAD v2 |
| Y | g.12812864A>G | CA414991765 | USP9Y | c.4421A>G (p.Lys1474Arg) n.4433A>G c.4187A>G (p.Lys1396Arg) c.4436A>G (p.Lys1479Arg) | |
| Y | g.12812864A>T | CA414991767 | USP9Y | c.4421A>T (p.Lys1474Ile) n.4433A>T c.4187A>T (p.Lys1396Ile) c.4436A>T (p.Lys1479Ile) | |
| Y | g.12812865A>C | CA414991775 | USP9Y | c.4422A>C (p.Lys1474Asn) n.4434A>C c.4188A>C (p.Lys1396Asn) c.4437A>C (p.Lys1479Asn) | |
| Y | g.12812865A>G | CA519895307 | USP9Y | c.4422A>G (p.Lys1474=) n.4434A>G c.4188A>G (p.Lys1396=) c.4437A>G (p.Lys1479=) | |
| Y | g.12812865A>T | CA414991772 | USP9Y | c.4422A>T (p.Lys1474Asn) n.4434A>T c.4188A>T (p.Lys1396Asn) c.4437A>T (p.Lys1479Asn) | |
| Y | g.12812866G>A | CA414991779 | USP9Y | c.4423G>A (p.Val1475Ile) n.4435G>A c.4189G>A (p.Val1397Ile) c.4438G>A (p.Val1480Ile) | |
| Y | g.12812866G>C | CA414991789 | USP9Y | c.4423G>C (p.Val1475Leu) n.4435G>C c.4189G>C (p.Val1397Leu) c.4438G>C (p.Val1480Leu) | |
| Y | g.12812866G>T | CA414991793 | USP9Y | c.4423G>T (p.Val1475Phe) n.4435G>T c.4189G>T (p.Val1397Phe) c.4438G>T (p.Val1480Phe) | |
| Y | g.12812867T>A | CA414991796 | USP9Y | c.4424T>A (p.Val1475Asp) n.4436T>A c.4190T>A (p.Val1397Asp) c.4439T>A (p.Val1480Asp) | |
| Y | g.12812867T>C | CA414991797 | USP9Y | c.4424T>C (p.Val1475Ala) n.4436T>C c.4190T>C (p.Val1397Ala) c.4439T>C (p.Val1480Ala) | |
| Y | g.12812867T>G | CA414991800 | USP9Y | c.4424T>G (p.Val1475Gly) n.4436T>G c.4190T>G (p.Val1397Gly) c.4439T>G (p.Val1480Gly) | |
| Y | g.12812868T>A | CA519895339 | USP9Y | c.4425T>A (p.Val1475=) n.4437T>A c.4191T>A (p.Val1397=) c.4440T>A (p.Val1480=) | |
| Y | g.12812868T>C | CA519895343 | USP9Y | c.4425T>C (p.Val1475=) n.4437T>C c.4191T>C (p.Val1397=) c.4440T>C (p.Val1480=) | |
| Y | g.12812868T>G | CA519895346 | USP9Y | c.4425T>G (p.Val1475=) n.4437T>G c.4191T>G (p.Val1397=) c.4440T>G (p.Val1480=) | |
| Y | g.12812869T>A | CA414991804 | USP9Y | c.4426T>A (p.Tyr1476Asn) n.4438T>A c.4192T>A (p.Tyr1398Asn) c.4441T>A (p.Tyr1481Asn) | |
| Y | g.12812869T>C | CA414991805 | USP9Y | c.4426T>C (p.Tyr1476His) n.4438T>C c.4192T>C (p.Tyr1398His) c.4441T>C (p.Tyr1481His) | |
| Y | g.12812869T>G | CA414991808 | USP9Y | c.4426T>G (p.Tyr1476Asp) n.4438T>G c.4192T>G (p.Tyr1398Asp) c.4441T>G (p.Tyr1481Asp) | |
| Y | g.12812870A>C | CA414991810 | USP9Y | c.4427A>C (p.Tyr1476Ser) n.4439A>C c.4193A>C (p.Tyr1398Ser) c.4442A>C (p.Tyr1481Ser) | |
| Y | g.12812870A>G | CA414991813 | USP9Y | c.4427A>G (p.Tyr1476Cys) n.4439A>G c.4193A>G (p.Tyr1398Cys) c.4442A>G (p.Tyr1481Cys) | |
| Y | g.12812870A>T | CA414991814 | USP9Y | c.4427A>T (p.Tyr1476Phe) n.4439A>T c.4193A>T (p.Tyr1398Phe) c.4442A>T (p.Tyr1481Phe) | |
| Y | g.12812871C>A | CA414991820 | USP9Y | c.4428C>A (p.Tyr1476Ter) n.4440C>A c.4194C>A (p.Tyr1398Ter) c.4443C>A (p.Tyr1481Ter) | |
| Y | g.12812871C>G | CA414991817 | USP9Y | c.4428C>G (p.Tyr1476Ter) n.4440C>G c.4194C>G (p.Tyr1398Ter) c.4443C>G (p.Tyr1481Ter) | |
| Y | g.12812871C>T | CA519895364 | USP9Y | c.4428C>T (p.Tyr1476=) n.4440C>T c.4194C>T (p.Tyr1398=) c.4443C>T (p.Tyr1481=) | |
| Y | g.12812872C>A | CA414991828 | USP9Y | c.4429C>A (p.Leu1477Met) n.4441C>A c.4195C>A (p.Leu1399Met) c.4444C>A (p.Leu1482Met) | |
| Y | g.12812872C>G | CA414991831 | USP9Y | c.4429C>G (p.Leu1477Val) n.4441C>G c.4195C>G (p.Leu1399Val) c.4444C>G (p.Leu1482Val) | |
| Y | g.12812872C>T | CA519895371 | USP9Y | c.4429C>T (p.Leu1477=) n.4441C>T c.4195C>T (p.Leu1399=) c.4444C>T (p.Leu1482=) | |
| Y | g.12812873T>A | CA414991833 | USP9Y | c.4430T>A (p.Leu1477Gln) n.4442T>A c.4196T>A (p.Leu1399Gln) c.4445T>A (p.Leu1482Gln) | |
| Y | g.12812873T>C | CA414991836 | USP9Y | c.4430T>C (p.Leu1477Pro) n.4442T>C c.4196T>C (p.Leu1399Pro) c.4445T>C (p.Leu1482Pro) | |
| Y | g.12812873T>G | CA414991839 | USP9Y | c.4430T>G (p.Leu1477Arg) n.4442T>G c.4196T>G (p.Leu1399Arg) c.4445T>G (p.Leu1482Arg) | |
| Y | g.12812874del | CA2560047635 | USP9Y | c.4431del (p.Gln1478SerfsTer3) n.4443del c.4197del (p.Gln1400SerfsTer3) c.4446del (p.Gln1483SerfsTer3) | |
| Y | g.12812874G>A | CA519895380 | USP9Y | c.4431G>A (p.Leu1477=) n.4443G>A c.4197G>A (p.Leu1399=) c.4446G>A (p.Leu1482=) | |
| Y | g.12812874G>C | CA519895381 | USP9Y | c.4431G>C (p.Leu1477=) n.4443G>C c.4197G>C (p.Leu1399=) c.4446G>C (p.Leu1482=) | |
| Y | g.12812874G>T | CA519895382 | USP9Y | c.4431G>T (p.Leu1477=) n.4443G>T c.4197G>T (p.Leu1399=) c.4446G>T (p.Leu1482=) | |
| Y | g.12812875C>A | CA414991842 | USP9Y | c.4432C>A (p.Gln1478Lys) n.4444C>A c.4198C>A (p.Gln1400Lys) c.4447C>A (p.Gln1483Lys) | |
| Y | g.12812875C>G | CA414991845 | USP9Y | c.4432C>G (p.Gln1478Glu) n.4444C>G c.4198C>G (p.Gln1400Glu) c.4447C>G (p.Gln1483Glu) | |
| Y | g.12812875C>T | CA414991846 | USP9Y | c.4432C>T (p.Gln1478Ter) n.4444C>T c.4198C>T (p.Gln1400Ter) c.4447C>T (p.Gln1483Ter) | |
| Y | g.12812876A>C | CA414991847 | USP9Y | c.4433A>C (p.Gln1478Pro) n.4445A>C c.4199A>C (p.Gln1400Pro) c.4448A>C (p.Gln1483Pro) | |
| Y | g.12812876A>G | CA414991848 | USP9Y | c.4433A>G (p.Gln1478Arg) n.4445A>G c.4199A>G (p.Gln1400Arg) c.4448A>G (p.Gln1483Arg) | |
| Y | g.12812876A>T | CA414991849 | USP9Y | c.4433A>T (p.Gln1478Leu) n.4445A>T c.4199A>T (p.Gln1400Leu) c.4448A>T (p.Gln1483Leu) | |
| Y | g.12812877G>A | CA519895397 | USP9Y | c.4434G>A (p.Gln1478=) n.4446G>A c.4200G>A (p.Gln1400=) c.4449G>A (p.Gln1483=) | |
| Y | g.12812877G>C | CA414991853 | USP9Y | c.4434G>C (p.Gln1478His) n.4446G>C c.4200G>C (p.Gln1400His) c.4449G>C (p.Gln1483His) | |
| Y | g.12812877G>T | CA414991856 | USP9Y | c.4434G>T (p.Gln1478His) n.4446G>T c.4200G>T (p.Gln1400His) c.4449G>T (p.Gln1483His) | |
| Y | g.12812878T>A | CA414991863 | USP9Y | c.4435T>A (p.Tyr1479Asn) n.4447T>A c.4201T>A (p.Tyr1401Asn) c.4450T>A (p.Tyr1484Asn) | |
| Y | g.12812878T>C | CA414991861 | USP9Y | c.4435T>C (p.Tyr1479His) n.4447T>C c.4201T>C (p.Tyr1401His) c.4450T>C (p.Tyr1484His) | |
| Y | g.12812878T>G | CA414991858 | USP9Y | c.4435T>G (p.Tyr1479Asp) n.4447T>G c.4201T>G (p.Tyr1401Asp) c.4450T>G (p.Tyr1484Asp) | |
| Y | g.12812879A>C | CA414991866 | USP9Y | c.4436A>C (p.Tyr1479Ser) n.4448A>C c.4202A>C (p.Tyr1401Ser) c.4451A>C (p.Tyr1484Ser) | |
| Y | g.12812879A>G | CA414991870 | USP9Y | c.4436A>G (p.Tyr1479Cys) n.4448A>G c.4202A>G (p.Tyr1401Cys) c.4451A>G (p.Tyr1484Cys) | |
| Y | g.12812879A>T | CA414991872 | USP9Y | c.4436A>T (p.Tyr1479Phe) n.4448A>T c.4202A>T (p.Tyr1401Phe) c.4451A>T (p.Tyr1484Phe) | |
| Y | g.12812880T>A | CA414991875 | USP9Y | c.4437T>A (p.Tyr1479Ter) n.4449T>A c.4203T>A (p.Tyr1401Ter) c.4452T>A (p.Tyr1484Ter) | |
| Y | g.12812880T>C | CA519895416 | USP9Y | c.4437T>C (p.Tyr1479=) n.4449T>C c.4203T>C (p.Tyr1401=) c.4452T>C (p.Tyr1484=) | |
| Y | g.12812880T>G | CA414991878 | USP9Y | c.4437T>G (p.Tyr1479Ter) n.4449T>G c.4203T>G (p.Tyr1401Ter) c.4452T>G (p.Tyr1484Ter) | |
| Y | g.12812881_12812882del | CA2824886461 | USP9Y | c.4438_4439del (p.Leu1480LysfsTer8) n.4450_4451del c.4204_4205del (p.Leu1402LysfsTer8) c.4453_4454del (p.Leu1485LysfsTer8) | |
| Y | g.12812881T>A | CA414991882 | USP9Y | c.4438T>A (p.Leu1480Ile) n.4450T>A c.4204T>A (p.Leu1402Ile) c.4453T>A (p.Leu1485Ile) | |
| Y | g.12812881T>C | CA519895420 | USP9Y | c.4438T>C (p.Leu1480=) n.4450T>C c.4204T>C (p.Leu1402=) c.4453T>C (p.Leu1485=) | |
| Y | g.12812881T>G | CA414991884 | USP9Y | c.4438T>G (p.Leu1480Val) n.4450T>G c.4204T>G (p.Leu1402Val) c.4453T>G (p.Leu1485Val) | |
| Y | g.12812882T>A | CA414991887 | USP9Y | c.4439T>A (p.Leu1480Ter) n.4451T>A c.4205T>A (p.Leu1402Ter) c.4454T>A (p.Leu1485Ter) | |
| Y | g.12812882T>C | CA414991890 | USP9Y | c.4439T>C (p.Leu1480Ser) n.4451T>C c.4205T>C (p.Leu1402Ser) c.4454T>C (p.Leu1485Ser) | |
| Y | g.12812882T>G | CA414991897 | USP9Y | c.4439T>G (p.Leu1480Ter) n.4451T>G c.4205T>G (p.Leu1402Ter) c.4454T>G (p.Leu1485Ter) | |
| Y | g.12812883A>C | CA414991901 | USP9Y | c.4440A>C (p.Leu1480Phe) n.4452A>C c.4206A>C (p.Leu1402Phe) c.4455A>C (p.Leu1485Phe) | |
| Y | g.12812883A>G | CA519895446 | USP9Y | c.4440A>G (p.Leu1480=) n.4452A>G c.4206A>G (p.Leu1402=) c.4455A>G (p.Leu1485=) | |
| Y | g.12812883A>T | CA414991903 | USP9Y | c.4440A>T (p.Leu1480Phe) n.4452A>T c.4206A>T (p.Leu1402Phe) c.4455A>T (p.Leu1485Phe) | |
| Y | g.12812884A>C | CA519895451 | USP9Y | c.4441A>C (p.Arg1481=) n.4453A>C c.4207A>C (p.Arg1403=) c.4456A>C (p.Arg1486=) | |
| Y | g.12812884A>G | CA414991904 | USP9Y | c.4441A>G (p.Arg1481Gly) n.4453A>G c.4207A>G (p.Arg1403Gly) c.4456A>G (p.Arg1486Gly) | |
| Y | g.12812884A>T | CA414991905 | USP9Y | c.4441A>T (p.Arg1481Ter) n.4453A>T c.4207A>T (p.Arg1403Ter) c.4456A>T (p.Arg1486Ter) | |
| Y | g.12812885G>A | CA414991906 | USP9Y | c.4442G>A (p.Arg1481Lys) n.4454G>A c.4208G>A (p.Arg1403Lys) c.4457G>A (p.Arg1486Lys) | |
| Y | g.12812885G>C | CA414991908 | USP9Y | c.4442G>C (p.Arg1481Thr) n.4454G>C c.4208G>C (p.Arg1403Thr) c.4457G>C (p.Arg1486Thr) | |
| Y | g.12812885G>T | CA414991911 | USP9Y | c.4442G>T (p.Arg1481Ile) n.4454G>T c.4208G>T (p.Arg1403Ile) c.4457G>T (p.Arg1486Ile) | |
| Y | g.12812886A>C | CA414991916 | USP9Y | c.4443A>C (p.Arg1481Ser) n.4455A>C c.4209A>C (p.Arg1403Ser) c.4458A>C (p.Arg1486Ser) | |
| Y | g.12812886A>G | CA519895478 | USP9Y | c.4443A>G (p.Arg1481=) n.4455A>G c.4209A>G (p.Arg1403=) c.4458A>G (p.Arg1486=) | |
| Y | g.12812886A>T | CA414991918 | USP9Y | c.4443A>T (p.Arg1481Ser) n.4455A>T c.4209A>T (p.Arg1403Ser) c.4458A>T (p.Arg1486Ser) | |
| Y | g.12812887A>C | CA414991921 | USP9Y | c.4444A>C (p.Ser1482Arg) n.4456A>C c.4210A>C (p.Ser1404Arg) c.4459A>C (p.Ser1487Arg) | |
| Y | g.12812887A>G | CA414991923 | USP9Y | c.4444A>G (p.Ser1482Gly) n.4456A>G c.4210A>G (p.Ser1404Gly) c.4459A>G (p.Ser1487Gly) | |
| Y | g.12812887A>T | CA414991924 | USP9Y | c.4444A>T (p.Ser1482Cys) n.4456A>T c.4210A>T (p.Ser1404Cys) c.4459A>T (p.Ser1487Cys) | |
| Y | g.12812888G>A | CA414991929 | USP9Y | c.4445G>A (p.Ser1482Asn) n.4457G>A c.4211G>A (p.Ser1404Asn) c.4460G>A (p.Ser1487Asn) | |
| Y | g.12812888G>C | CA414991931 | USP9Y | c.4445G>C (p.Ser1482Thr) n.4457G>C c.4211G>C (p.Ser1404Thr) c.4460G>C (p.Ser1487Thr) | |
| Y | g.12812888G>T | CA414991934 | USP9Y | c.4445G>T (p.Ser1482Ile) n.4457G>T c.4211G>T (p.Ser1404Ile) c.4460G>T (p.Ser1487Ile) | |
| Y | g.12812889T>A | CA414991937 | USP9Y | c.4446T>A (p.Ser1482Arg) n.4458T>A c.4212T>A (p.Ser1404Arg) c.4461T>A (p.Ser1487Arg) | |
| Y | g.12812889T>C | CA519895507 | USP9Y | c.4446T>C (p.Ser1482=) n.4458T>C c.4212T>C (p.Ser1404=) c.4461T>C (p.Ser1487=) | |
| Y | g.12812889T>G | CA414991939 | USP9Y | c.4446T>G (p.Ser1482Arg) n.4458T>G c.4212T>G (p.Ser1404Arg) c.4461T>G (p.Ser1487Arg) | |
| Y | g.12812890G>A | CA414991944 | USP9Y | c.4447G>A (p.Gly1483Arg) n.4459G>A c.4213G>A (p.Gly1405Arg) c.4462G>A (p.Gly1488Arg) | dbSNP gnomAD v2 |
| Y | g.12812890G>C | CA414991950 | USP9Y | c.4447G>C (p.Gly1483Arg) n.4459G>C c.4213G>C (p.Gly1405Arg) c.4462G>C (p.Gly1488Arg) | |
| Y | g.12812890G= | CA2470559340 | USP9Y | c.4447G= (p.Gly1483=) n.4459G= c.4213G= (p.Gly1405=) c.4462G= (p.Gly1488=) | |
| Y | g.12812890G>T | CA414991947 | USP9Y | c.4447G>T (p.Gly1483Ter) n.4459G>T c.4213G>T (p.Gly1405Ter) c.4462G>T (p.Gly1488Ter) | |
| Y | g.12812891G>A | CA414991953 | USP9Y | c.4448G>A (p.Gly1483Glu) n.4460G>A c.4214G>A (p.Gly1405Glu) c.4463G>A (p.Gly1488Glu) | |
| Y | g.12812891G>C | CA414991957 | USP9Y | c.4448G>C (p.Gly1483Ala) n.4460G>C c.4214G>C (p.Gly1405Ala) c.4463G>C (p.Gly1488Ala) | |
| Y | g.12812891G>T | CA414991960 | USP9Y | c.4448G>T (p.Gly1483Val) n.4460G>T c.4214G>T (p.Gly1405Val) c.4463G>T (p.Gly1488Val) | |
| Y | g.12812892A>C | CA519895525 | USP9Y | c.4449A>C (p.Gly1483=) n.4461A>C c.4215A>C (p.Gly1405=) c.4464A>C (p.Gly1488=) | |
| Y | g.12812892A>G | CA519895527 | USP9Y | c.4449A>G (p.Gly1483=) n.4461A>G c.4215A>G (p.Gly1405=) c.4464A>G (p.Gly1488=) | |
| Y | g.12812892A>T | CA519895528 | USP9Y | c.4449A>T (p.Gly1483=) n.4461A>T c.4215A>T (p.Gly1405=) c.4464A>T (p.Gly1488=) | COSMIC |
| Y | g.12812893G>A | CA414991963 | USP9Y | c.4450G>A (p.Glu1484Lys) n.4462G>A c.4216G>A (p.Glu1406Lys) c.4465G>A (p.Glu1489Lys) | dbSNP |
| Y | g.12812893G>C | CA414991966 | USP9Y | c.4450G>C (p.Glu1484Gln) n.4462G>C c.4216G>C (p.Glu1406Gln) c.4465G>C (p.Glu1489Gln) | |
| Y | g.12812893G= | CA2470559341 | USP9Y | c.4450G= (p.Glu1484=) n.4462G= c.4216G= (p.Glu1406=) c.4465G= (p.Glu1489=) | |
| Y | g.12812893G>T | CA414991968 | USP9Y | c.4450G>T (p.Glu1484Ter) n.4462G>T c.4216G>T (p.Glu1406Ter) c.4465G>T (p.Glu1489Ter) | |
| Y | g.12812894A= | CA2470559342 | USP9Y | c.4451A= (p.Glu1484=) n.4463A= c.4217A= (p.Glu1406=) c.4466A= (p.Glu1489=) | |
| Y | g.12812894A>C | CA414991971 | USP9Y | c.4451A>C (p.Glu1484Ala) n.4463A>C c.4217A>C (p.Glu1406Ala) c.4466A>C (p.Glu1489Ala) | |
| Y | g.12812894A>G | CA414991974 | USP9Y | c.4451A>G (p.Glu1484Gly) n.4463A>G c.4217A>G (p.Glu1406Gly) c.4466A>G (p.Glu1489Gly) | dbSNP gnomAD v2 |
| Y | g.12812894A>T | CA414991976 | USP9Y | c.4451A>T (p.Glu1484Val) n.4463A>T c.4217A>T (p.Glu1406Val) c.4466A>T (p.Glu1489Val) | |
| Y | g.12812895A>C | CA414991978 | USP9Y | c.4452A>C (p.Glu1484Asp) n.4464A>C c.4218A>C (p.Glu1406Asp) c.4467A>C (p.Glu1489Asp) | |
| Y | g.12812895A>G | CA519895548 | USP9Y | c.4452A>G (p.Glu1484=) n.4464A>G c.4218A>G (p.Glu1406=) c.4467A>G (p.Glu1489=) | |
| Y | g.12812895A>T | CA414991980 | USP9Y | c.4452A>T (p.Glu1484Asp) n.4464A>T c.4218A>T (p.Glu1406Asp) c.4467A>T (p.Glu1489Asp) | |
| Y | g.12812896C>A | CA414991982 | USP9Y | c.4453C>A (p.Leu1485Ile) n.4465C>A c.4219C>A (p.Leu1407Ile) c.4468C>A (p.Leu1490Ile) | |
| Y | g.12812896C>G | CA414991984 | USP9Y | c.4453C>G (p.Leu1485Val) n.4465C>G c.4219C>G (p.Leu1407Val) c.4468C>G (p.Leu1490Val) | |
| Y | g.12812896C>T | CA519895563 | USP9Y | c.4453C>T (p.Leu1485=) n.4465C>T c.4219C>T (p.Leu1407=) c.4468C>T (p.Leu1490=) | |
| Y | g.12812897T>A | CA414991986 | USP9Y | c.4454T>A (p.Leu1485Gln) n.4466T>A c.4220T>A (p.Leu1407Gln) c.4469T>A (p.Leu1490Gln) | |
| Y | g.12812897T>C | CA414991989 | USP9Y | c.4454T>C (p.Leu1485Pro) n.4466T>C c.4220T>C (p.Leu1407Pro) c.4469T>C (p.Leu1490Pro) | |
| Y | g.12812897T>G | CA414991988 | USP9Y | c.4454T>G (p.Leu1485Arg) n.4466T>G c.4220T>G (p.Leu1407Arg) c.4469T>G (p.Leu1490Arg) | |
| Y | g.12812898A>C | CA519895567 | USP9Y | c.4455A>C (p.Leu1485=) n.4467A>C c.4221A>C (p.Leu1407=) c.4470A>C (p.Leu1490=) | |
| Y | g.12812898A>G | CA519895564 | USP9Y | c.4455A>G (p.Leu1485=) n.4467A>G c.4221A>G (p.Leu1407=) c.4470A>G (p.Leu1490=) | |
| Y | g.12812898A>T | CA519895566 | USP9Y | c.4455A>T (p.Leu1485=) n.4467A>T c.4221A>T (p.Leu1407=) c.4470A>T (p.Leu1490=) | |
| Y | g.12812899C>A | CA414991992 | USP9Y | c.4456C>A (p.Pro1486Thr) n.4468C>A c.4222C>A (p.Pro1408Thr) c.4471C>A (p.Pro1491Thr) | |
| Y | g.12812899C>G | CA414991995 | USP9Y | c.4456C>G (p.Pro1486Ala) n.4468C>G c.4222C>G (p.Pro1408Ala) c.4471C>G (p.Pro1491Ala) | |
| Y | g.12812899C>T | CA414991993 | USP9Y | c.4456C>T (p.Pro1486Ser) n.4468C>T c.4222C>T (p.Pro1408Ser) c.4471C>T (p.Pro1491Ser) | |
| Y | g.12812900del | CA2579747981 | USP9Y | c.4457del (p.Pro1486GlnfsTer23) n.4469del c.4223del (p.Pro1408GlnfsTer23) c.4472del (p.Pro1491GlnfsTer23) | |
| Y | g.12812900C>A | CA414991998 | USP9Y | c.4457C>A (p.Pro1486Gln) n.4469C>A c.4223C>A (p.Pro1408Gln) c.4472C>A (p.Pro1491Gln) | |
| Y | g.12812900C>G | CA414992001 | USP9Y | c.4457C>G (p.Pro1486Arg) n.4469C>G c.4223C>G (p.Pro1408Arg) c.4472C>G (p.Pro1491Arg) | |
| Y | g.12812900C>T | CA414991999 | USP9Y | c.4457C>T (p.Pro1486Leu) n.4469C>T c.4223C>T (p.Pro1408Leu) c.4472C>T (p.Pro1491Leu) | |
| Y | g.12812901A>C | CA519895568 | USP9Y | c.4458A>C (p.Pro1486=) n.4470A>C c.4224A>C (p.Pro1408=) c.4473A>C (p.Pro1491=) | |
| Y | g.12812901A>G | CA519895570 | USP9Y | c.4458A>G (p.Pro1486=) n.4470A>G c.4224A>G (p.Pro1408=) c.4473A>G (p.Pro1491=) | |
| Y | g.12812901A>T | CA519895571 | USP9Y | c.4458A>T (p.Pro1486=) n.4470A>T c.4224A>T (p.Pro1408=) c.4473A>T (p.Pro1491=) | |
| Y | g.12812902G>A | CA414992003 | USP9Y | c.4459G>A (p.Ala1487Thr) n.4471G>A c.4225G>A (p.Ala1409Thr) c.4474G>A (p.Ala1492Thr) | |
| Y | g.12812902G>C | CA414992005 | USP9Y | c.4459G>C (p.Ala1487Pro) n.4471G>C c.4225G>C (p.Ala1409Pro) c.4474G>C (p.Ala1492Pro) | |
| Y | g.12812902G>T | CA414992007 | USP9Y | c.4459G>T (p.Ala1487Ser) n.4471G>T c.4225G>T (p.Ala1409Ser) c.4474G>T (p.Ala1492Ser) | |
| Y | g.12812903C>A | CA414992009 | USP9Y | c.4460C>A (p.Ala1487Asp) n.4472C>A c.4226C>A (p.Ala1409Asp) c.4475C>A (p.Ala1492Asp) | |
| Y | g.12812903C>G | CA414992011 | USP9Y | c.4460C>G (p.Ala1487Gly) n.4472C>G c.4226C>G (p.Ala1409Gly) c.4475C>G (p.Ala1492Gly) | |
| Y | g.12812903C>T | CA414992013 | USP9Y | c.4460C>T (p.Ala1487Val) n.4472C>T c.4226C>T (p.Ala1409Val) c.4475C>T (p.Ala1492Val) | |
| Y | g.12812904T>A | CA519895591 | USP9Y | c.4461T>A (p.Ala1487=) n.4473T>A c.4227T>A (p.Ala1409=) c.4476T>A (p.Ala1492=) | |
| Y | g.12812904T>C | CA519895594 | USP9Y | c.4461T>C (p.Ala1487=) n.4473T>C c.4227T>C (p.Ala1409=) c.4476T>C (p.Ala1492=) | |
| Y | g.12812904T>G | CA519895597 | USP9Y | c.4461T>G (p.Ala1487=) n.4473T>G c.4227T>G (p.Ala1409=) c.4476T>G (p.Ala1492=) | |
| Y | g.12812905G>A | CA414992016 | USP9Y | c.4462G>A (p.Glu1488Lys) n.4474G>A c.4228G>A (p.Glu1410Lys) c.4477G>A (p.Glu1493Lys) | |
| Y | g.12812905G>C | CA414992019 | USP9Y | c.4462G>C (p.Glu1488Gln) n.4474G>C c.4228G>C (p.Glu1410Gln) c.4477G>C (p.Glu1493Gln) | |
| Y | g.12812905G>T | CA414992025 | USP9Y | c.4462G>T (p.Glu1488Ter) n.4474G>T c.4228G>T (p.Glu1410Ter) c.4477G>T (p.Glu1493Ter) | |
| Y | g.12812906A>C | CA414992034 | USP9Y | c.4463A>C (p.Glu1488Ala) n.4475A>C c.4229A>C (p.Glu1410Ala) c.4478A>C (p.Glu1493Ala) | |
| Y | g.12812906A>G | CA414992032 | USP9Y | c.4463A>G (p.Glu1488Gly) n.4475A>G c.4229A>G (p.Glu1410Gly) c.4478A>G (p.Glu1493Gly) | |
| Y | g.12812906A>T | CA414992029 | USP9Y | c.4463A>T (p.Glu1488Val) n.4475A>T c.4229A>T (p.Glu1410Val) c.4478A>T (p.Glu1493Val) | |
| Y | g.12812907G>A | CA519895607 | USP9Y | c.4464G>A (p.Glu1488=) n.4476G>A c.4230G>A (p.Glu1410=) c.4479G>A (p.Glu1493=) | |
| Y | g.12812907G>C | CA414992037 | USP9Y | c.4464G>C (p.Glu1488Asp) n.4476G>C c.4230G>C (p.Glu1410Asp) c.4479G>C (p.Glu1493Asp) | gnomAD v3 gnomAD v4 |
| Y | g.12812907G= | CA2470559343 | USP9Y | c.4464G= (p.Glu1488=) n.4476G= c.4230G= (p.Glu1410=) c.4479G= (p.Glu1493=) | |
| Y | g.12812907G>T | CA414992039 | USP9Y | c.4464G>T (p.Glu1488Asp) n.4476G>T c.4230G>T (p.Glu1410Asp) c.4479G>T (p.Glu1493Asp) | dbSNP gnomAD v2 |
| Y | g.12812908C>A | CA414992042 | USP9Y | c.4465C>A (p.Gln1489Lys) n.4477C>A c.4231C>A (p.Gln1411Lys) c.4480C>A (p.Gln1494Lys) | |
| Y | g.12812908C>G | CA414992044 | USP9Y | c.4465C>G (p.Gln1489Glu) n.4477C>G c.4231C>G (p.Gln1411Glu) c.4480C>G (p.Gln1494Glu) | |
| Y | g.12812908C>T | CA414992047 | USP9Y | c.4465C>T (p.Gln1489Ter) n.4477C>T c.4231C>T (p.Gln1411Ter) c.4480C>T (p.Gln1494Ter) | |
| Y | g.12812909A>C | CA414992050 | USP9Y | c.4466A>C (p.Gln1489Pro) n.4478A>C c.4232A>C (p.Gln1411Pro) c.4481A>C (p.Gln1494Pro) | |
| Y | g.12812909A>G | CA414992052 | USP9Y | c.4466A>G (p.Gln1489Arg) n.4478A>G c.4232A>G (p.Gln1411Arg) c.4481A>G (p.Gln1494Arg) | |
| Y | g.12812909A>T | CA414992055 | USP9Y | c.4466A>T (p.Gln1489Leu) n.4478A>T c.4232A>T (p.Gln1411Leu) c.4481A>T (p.Gln1494Leu) | |
| Y | g.12812910G>A | CA519895619 | USP9Y | c.4467G>A (p.Gln1489=) n.4479G>A c.4233G>A (p.Gln1411=) c.4482G>A (p.Gln1494=) | |
| Y | g.12812910G>C | CA414992058 | USP9Y | c.4467G>C (p.Gln1489His) n.4479G>C c.4233G>C (p.Gln1411His) c.4482G>C (p.Gln1494His) | |
| Y | g.12812910G>T | CA414992061 | USP9Y | c.4467G>T (p.Gln1489His) n.4479G>T c.4233G>T (p.Gln1411His) c.4482G>T (p.Gln1494His) | |
| Y | g.12812911G>A | CA414992067 | USP9Y | c.4468G>A (p.Ala1490Thr) n.4480G>A c.4234G>A (p.Ala1412Thr) c.4483G>A (p.Ala1495Thr) | |
| Y | g.12812911G>C | CA414992069 | USP9Y | c.4468G>C (p.Ala1490Pro) n.4480G>C c.4234G>C (p.Ala1412Pro) c.4483G>C (p.Ala1495Pro) | |
| Y | g.12812911G>T | CA414992064 | USP9Y | c.4468G>T (p.Ala1490Ser) n.4480G>T c.4234G>T (p.Ala1412Ser) c.4483G>T (p.Ala1495Ser) | |
| Y | g.12812912C>A | CA414992072 | USP9Y | c.4469C>A (p.Ala1490Asp) n.4481C>A c.4235C>A (p.Ala1412Asp) c.4484C>A (p.Ala1495Asp) | |
| Y | g.12812912C>G | CA414992074 | USP9Y | c.4469C>G (p.Ala1490Gly) n.4481C>G c.4235C>G (p.Ala1412Gly) c.4484C>G (p.Ala1495Gly) | |
| Y | g.12812912C>T | CA414992076 | USP9Y | c.4469C>T (p.Ala1490Val) n.4481C>T c.4235C>T (p.Ala1412Val) c.4484C>T (p.Ala1495Val) | |
| Y | g.12812913T>A | CA519895634 | USP9Y | c.4470T>A (p.Ala1490=) n.4482T>A c.4236T>A (p.Ala1412=) c.4485T>A (p.Ala1495=) | |
| Y | g.12812913T>C | CA519895637 | USP9Y | c.4470T>C (p.Ala1490=) n.4482T>C c.4236T>C (p.Ala1412=) c.4485T>C (p.Ala1495=) | |
| Y | g.12812913T>G | CA519895645 | USP9Y | c.4470T>G (p.Ala1490=) n.4482T>G c.4236T>G (p.Ala1412=) c.4485T>G (p.Ala1495=) | |
| Y | g.12812914A>C | CA414992080 | USP9Y | c.4471A>C (p.Ile1491Leu) n.4483A>C c.4237A>C (p.Ile1413Leu) c.4486A>C (p.Ile1496Leu) | |
| Y | g.12812914A>G | CA414992082 | USP9Y | c.4471A>G (p.Ile1491Val) n.4483A>G c.4237A>G (p.Ile1413Val) c.4486A>G (p.Ile1496Val) | |
| Y | g.12812914A>T | CA414992083 | USP9Y | c.4471A>T (p.Ile1491Phe) n.4483A>T c.4237A>T (p.Ile1413Phe) c.4486A>T (p.Ile1496Phe) | |
| Y | g.12812915T>A | CA10573327 | USP9Y | c.4472T>A (p.Ile1491Asn) n.4484T>A c.4238T>A (p.Ile1413Asn) c.4487T>A (p.Ile1496Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12812915T>C | CA414992089 | USP9Y | c.4472T>C (p.Ile1491Thr) n.4484T>C c.4238T>C (p.Ile1413Thr) c.4487T>C (p.Ile1496Thr) | |
| Y | g.12812915T>G | CA414992092 | USP9Y | c.4472T>G (p.Ile1491Ser) n.4484T>G c.4238T>G (p.Ile1413Ser) c.4487T>G (p.Ile1496Ser) | |
| Y | g.12812915T= | CA2470559344 | USP9Y | c.4472T= (p.Ile1491=) n.4484T= c.4238T= (p.Ile1413=) c.4487T= (p.Ile1496=) | |
| Y | g.12812916T>A | CA519895671 | USP9Y | c.4473T>A (p.Ile1491=) n.4485T>A c.4239T>A (p.Ile1413=) c.4488T>A (p.Ile1496=) | |
| Y | g.12812916T>C | CA519895674 | USP9Y | c.4473T>C (p.Ile1491=) n.4485T>C c.4239T>C (p.Ile1413=) c.4488T>C (p.Ile1496=) | |
| Y | g.12812916T>G | CA414992095 | USP9Y | c.4473T>G (p.Ile1491Met) n.4485T>G c.4239T>G (p.Ile1413Met) c.4488T>G (p.Ile1496Met) | |
| Y | g.12812917C>A | CA414992112 | USP9Y | c.4474C>A (p.Pro1492Thr) n.4486C>A c.4240C>A (p.Pro1414Thr) c.4489C>A (p.Pro1497Thr) | |
| Y | g.12812917C>G | CA414992111 | USP9Y | c.4474C>G (p.Pro1492Ala) n.4486C>G c.4240C>G (p.Pro1414Ala) c.4489C>G (p.Pro1497Ala) | |
| Y | g.12812917C>T | CA414992099 | USP9Y | c.4474C>T (p.Pro1492Ser) n.4486C>T c.4240C>T (p.Pro1414Ser) c.4489C>T (p.Pro1497Ser) | |
| Y | g.12812918C>A | CA414992117 | USP9Y | c.4475C>A (p.Pro1492Gln) n.4487C>A c.4241C>A (p.Pro1414Gln) c.4490C>A (p.Pro1497Gln) | |
| Y | g.12812918C>G | CA414992119 | USP9Y | c.4475C>G (p.Pro1492Arg) n.4487C>G c.4241C>G (p.Pro1414Arg) c.4490C>G (p.Pro1497Arg) | |
| Y | g.12812918C>T | CA414992124 | USP9Y | c.4475C>T (p.Pro1492Leu) n.4487C>T c.4241C>T (p.Pro1414Leu) c.4490C>T (p.Pro1497Leu) | |
| Y | g.12812919A>C | CA519895694 | USP9Y | c.4476A>C (p.Pro1492=) n.4488A>C c.4242A>C (p.Pro1414=) c.4491A>C (p.Pro1497=) | |
| Y | g.12812919A>G | CA519895691 | USP9Y | c.4476A>G (p.Pro1492=) n.4488A>G c.4242A>G (p.Pro1414=) c.4491A>G (p.Pro1497=) | |
| Y | g.12812919A>T | CA519895689 | USP9Y | c.4476A>T (p.Pro1492=) n.4488A>T c.4242A>T (p.Pro1414=) c.4491A>T (p.Pro1497=) | |
| Y | g.12812920G>A | CA414992127 | USP9Y | c.4477G>A (p.Val1493Ile) n.4489G>A c.4243G>A (p.Val1415Ile) c.4492G>A (p.Val1498Ile) | |
| Y | g.12812920G>C | CA414992132 | USP9Y | c.4477G>C (p.Val1493Leu) n.4489G>C c.4243G>C (p.Val1415Leu) c.4492G>C (p.Val1498Leu) | |
| Y | g.12812920G>T | CA414992139 | USP9Y | c.4477G>T (p.Val1493Phe) n.4489G>T c.4243G>T (p.Val1415Phe) c.4492G>T (p.Val1498Phe) | |
| Y | g.12812921T>A | CA414992143 | USP9Y | c.4478T>A (p.Val1493Asp) n.4490T>A c.4244T>A (p.Val1415Asp) c.4493T>A (p.Val1498Asp) | |
| Y | g.12812921T>C | CA414992150 | USP9Y | c.4478T>C (p.Val1493Ala) n.4490T>C c.4244T>C (p.Val1415Ala) c.4493T>C (p.Val1498Ala) | |
| Y | g.12812921T>G | CA414992152 | USP9Y | c.4478T>G (p.Val1493Gly) n.4490T>G c.4244T>G (p.Val1415Gly) c.4493T>G (p.Val1498Gly) | |
| Y | g.12812922C>A | CA519895704 | USP9Y | c.4479C>A (p.Val1493=) n.4491C>A c.4245C>A (p.Val1415=) c.4494C>A (p.Val1498=) | |
| Y | g.12812922C>G | CA519895706 | USP9Y | c.4479C>G (p.Val1493=) n.4491C>G c.4245C>G (p.Val1415=) c.4494C>G (p.Val1498=) | |
| Y | g.12812922C>T | CA519895710 | USP9Y | c.4479C>T (p.Val1493=) n.4491C>T c.4245C>T (p.Val1415=) c.4494C>T (p.Val1498=) | |
| Y | g.12812923T>A | CA414992155 | USP9Y | c.4480T>A (p.Cys1494Ser) n.4492T>A c.4246T>A (p.Cys1416Ser) c.4495T>A (p.Cys1499Ser) | |
| Y | g.12812923T>C | CA414992156 | USP9Y | c.4480T>C (p.Cys1494Arg) n.4492T>C c.4246T>C (p.Cys1416Arg) c.4495T>C (p.Cys1499Arg) | |
| Y | g.12812923T>G | CA414992158 | USP9Y | c.4480T>G (p.Cys1494Gly) n.4492T>G c.4246T>G (p.Cys1416Gly) c.4495T>G (p.Cys1499Gly) | |
| Y | g.12812924G>A | CA414992170 | USP9Y | c.4481G>A (p.Cys1494Tyr) n.4493G>A c.4247G>A (p.Cys1416Tyr) c.4496G>A (p.Cys1499Tyr) | |
| Y | g.12812924G>C | CA414992168 | USP9Y | c.4481G>C (p.Cys1494Ser) n.4493G>C c.4247G>C (p.Cys1416Ser) c.4496G>C (p.Cys1499Ser) | |
| Y | g.12812924G>T | CA414992165 | USP9Y | c.4481G>T (p.Cys1494Phe) n.4493G>T c.4247G>T (p.Cys1416Phe) c.4496G>T (p.Cys1499Phe) | |
| Y | g.12812925T>A | CA414992175 | USP9Y | c.4482T>A (p.Cys1494Ter) n.4494T>A c.4248T>A (p.Cys1416Ter) c.4497T>A (p.Cys1499Ter) | |
| Y | g.12812925T>C | CA519895729 | USP9Y | c.4482T>C (p.Cys1494=) n.4494T>C c.4248T>C (p.Cys1416=) c.4497T>C (p.Cys1499=) | |
| Y | g.12812925T>G | CA414992177 | USP9Y | c.4482T>G (p.Cys1494Trp) n.4494T>G c.4248T>G (p.Cys1416Trp) c.4497T>G (p.Cys1499Trp) | |
| Y | g.12812926A>C | CA414992180 | USP9Y | c.4483A>C (p.Ser1495Arg) n.4495A>C c.4249A>C (p.Ser1417Arg) c.4498A>C (p.Ser1500Arg) | |
| Y | g.12812926A>G | CA414992182 | USP9Y | c.4483A>G (p.Ser1495Gly) n.4495A>G c.4249A>G (p.Ser1417Gly) c.4498A>G (p.Ser1500Gly) | |
| Y | g.12812926A>T | CA414992184 | USP9Y | c.4483A>T (p.Ser1495Cys) n.4495A>T c.4249A>T (p.Ser1417Cys) c.4498A>T (p.Ser1500Cys) | |
| Y | g.12812927G>A | CA414992186 | USP9Y | c.4484G>A (p.Ser1495Asn) n.4496G>A c.4250G>A (p.Ser1417Asn) c.4499G>A (p.Ser1500Asn) | |
| Y | g.12812927G>C | CA414992189 | USP9Y | c.4484G>C (p.Ser1495Thr) n.4496G>C c.4250G>C (p.Ser1417Thr) c.4499G>C (p.Ser1500Thr) | |
| Y | g.12812927G>T | CA414992191 | USP9Y | c.4484G>T (p.Ser1495Ile) n.4496G>T c.4250G>T (p.Ser1417Ile) c.4499G>T (p.Ser1500Ile) | |
| Y | g.12812928T>A | CA414992198 | USP9Y | c.4485T>A (p.Ser1495Arg) n.4497T>A c.4251T>A (p.Ser1417Arg) c.4500T>A (p.Ser1500Arg) | |
| Y | g.12812928T>C | CA519895750 | USP9Y | c.4485T>C (p.Ser1495=) n.4497T>C c.4251T>C (p.Ser1417=) c.4500T>C (p.Ser1500=) | |
| Y | g.12812928T>G | CA414992201 | USP9Y | c.4485T>G (p.Ser1495Arg) n.4497T>G c.4251T>G (p.Ser1417Arg) c.4500T>G (p.Ser1500Arg) | |
| Y | g.12812929T>A | CA414992204 | USP9Y | c.4486T>A (p.Ser1496Thr) n.4498T>A c.4252T>A (p.Ser1418Thr) c.4501T>A (p.Ser1501Thr) | |
| Y | g.12812929T>C | CA414992207 | USP9Y | c.4486T>C (p.Ser1496Pro) n.4498T>C c.4252T>C (p.Ser1418Pro) c.4501T>C (p.Ser1501Pro) | |
| Y | g.12812929T>G | CA414992211 | USP9Y | c.4486T>G (p.Ser1496Ala) n.4498T>G c.4252T>G (p.Ser1418Ala) c.4501T>G (p.Ser1501Ala) | |
| Y | g.12812930C>A | CA414992221 | USP9Y | c.4487C>A (p.Ser1496Ter) n.4499C>A c.4253C>A (p.Ser1418Ter) c.4502C>A (p.Ser1501Ter) | |
| Y | g.12812930C>G | CA414992214 | USP9Y | c.4487C>G (p.Ser1496Ter) n.4499C>G c.4253C>G (p.Ser1418Ter) c.4502C>G (p.Ser1501Ter) | |
| Y | g.12812930C>T | CA414992218 | USP9Y | c.4487C>T (p.Ser1496Leu) n.4499C>T c.4253C>T (p.Ser1418Leu) c.4502C>T (p.Ser1501Leu) | |
| Y | g.12812931A= | CA2470559345 | USP9Y | c.4488A= (p.Ser1496=) n.4500A= c.4254A= (p.Ser1418=) c.4503A= (p.Ser1501=) | |
| Y | g.12812931A>C | CA519895770 | USP9Y | c.4488A>C (p.Ser1496=) n.4500A>C c.4254A>C (p.Ser1418=) c.4503A>C (p.Ser1501=) | |
| Y | g.12812931A>G | CA519895771 | USP9Y | c.4488A>G (p.Ser1496=) n.4500A>G c.4254A>G (p.Ser1418=) c.4503A>G (p.Ser1501=) | |
| Y | g.12812931A>T | CA10573328 | USP9Y | c.4488A>T (p.Ser1496=) n.4500A>T c.4254A>T (p.Ser1418=) c.4503A>T (p.Ser1501=) | dbSNP ExAC gnomAD v2 |
| Y | g.12812932C>A | CA414992226 | USP9Y | c.4489C>A (p.Pro1497Thr) n.4501C>A c.4255C>A (p.Pro1419Thr) c.4504C>A (p.Pro1502Thr) | |
| Y | g.12812932C>G | CA414992228 | USP9Y | c.4489C>G (p.Pro1497Ala) n.4501C>G c.4255C>G (p.Pro1419Ala) c.4504C>G (p.Pro1502Ala) | |
| Y | g.12812932C>T | CA414992232 | USP9Y | c.4489C>T (p.Pro1497Ser) n.4501C>T c.4255C>T (p.Pro1419Ser) c.4504C>T (p.Pro1502Ser) | |
| Y | g.12812933C>A | CA414992233 | USP9Y | c.4490C>A (p.Pro1497His) n.4502C>A c.4256C>A (p.Pro1419His) c.4505C>A (p.Pro1502His) | |
| Y | g.12812933C>G | CA414992234 | USP9Y | c.4490C>G (p.Pro1497Arg) n.4502C>G c.4256C>G (p.Pro1419Arg) c.4505C>G (p.Pro1502Arg) | |
| Y | g.12812933C>T | CA414992235 | USP9Y | c.4490C>T (p.Pro1497Leu) n.4502C>T c.4256C>T (p.Pro1419Leu) c.4505C>T (p.Pro1502Leu) | |
| Y | g.12812934C>A | CA519895781 | USP9Y | c.4491C>A (p.Pro1497=) n.4503C>A c.4257C>A (p.Pro1419=) c.4506C>A (p.Pro1502=) | |
| Y | g.12812934C= | CA2470559346 | USP9Y | c.4491C= (p.Pro1497=) n.4503C= c.4257C= (p.Pro1419=) c.4506C= (p.Pro1502=) | |
| Y | g.12812934C>G | CA519895782 | USP9Y | c.4491C>G (p.Pro1497=) n.4503C>G c.4257C>G (p.Pro1419=) c.4506C>G (p.Pro1502=) | |
| Y | g.12812934C>T | CA10573329 | USP9Y | c.4491C>T (p.Pro1497=) n.4503C>T c.4257C>T (p.Pro1419=) c.4506C>T (p.Pro1502=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12812935G>A | CA10573330 | USP9Y | c.4492G>A (p.Val1498Ile) n.4504G>A c.4258G>A (p.Val1420Ile) c.4507G>A (p.Val1503Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.12812935G>C | CA414992240 | USP9Y | c.4492G>C (p.Val1498Leu) n.4504G>C c.4258G>C (p.Val1420Leu) c.4507G>C (p.Val1503Leu) | |
| Y | g.12812935G= | CA2470559347 | USP9Y | c.4492G= (p.Val1498=) n.4504G= c.4258G= (p.Val1420=) c.4507G= (p.Val1503=) | |
| Y | g.12812935G>T | CA414992243 | USP9Y | c.4492G>T (p.Val1498Phe) n.4504G>T c.4258G>T (p.Val1420Phe) c.4507G>T (p.Val1503Phe) | |
| Y | g.12812936T>A | CA414992246 | USP9Y | c.4493T>A (p.Val1498Asp) n.4505T>A c.4259T>A (p.Val1420Asp) c.4508T>A (p.Val1503Asp) | |
| Y | g.12812936T>C | CA414992253 | USP9Y | c.4493T>C (p.Val1498Ala) n.4505T>C c.4259T>C (p.Val1420Ala) c.4508T>C (p.Val1503Ala) | |
| Y | g.12812936T>G | CA414992251 | USP9Y | c.4493T>G (p.Val1498Gly) n.4505T>G c.4259T>G (p.Val1420Gly) c.4508T>G (p.Val1503Gly) | |
| Y | g.12812937T>A | CA519895794 | USP9Y | c.4494T>A (p.Val1498=) n.4506T>A c.4260T>A (p.Val1420=) c.4509T>A (p.Val1503=) | |
| Y | g.12812937T>C | CA519895801 | USP9Y | c.4494T>C (p.Val1498=) n.4506T>C c.4260T>C (p.Val1420=) c.4509T>C (p.Val1503=) | |
| Y | g.12812937T>G | CA519895797 | USP9Y | c.4494T>G (p.Val1498=) n.4506T>G c.4260T>G (p.Val1420=) c.4509T>G (p.Val1503=) | |
| Y | g.12812938A>C | CA414992256 | USP9Y | c.4495A>C (p.Thr1499Pro) n.4507A>C c.4261A>C (p.Thr1421Pro) c.4510A>C (p.Thr1504Pro) | |
| Y | g.12812938A>G | CA414992257 | USP9Y | c.4495A>G (p.Thr1499Ala) n.4507A>G c.4261A>G (p.Thr1421Ala) c.4510A>G (p.Thr1504Ala) | |
| Y | g.12812938A>T | CA414992261 | USP9Y | c.4495A>T (p.Thr1499Ser) n.4507A>T c.4261A>T (p.Thr1421Ser) c.4510A>T (p.Thr1504Ser) | |
| Y | g.12812939C>A | CA414992264 | USP9Y | c.4496C>A (p.Thr1499Asn) n.4508C>A c.4262C>A (p.Thr1421Asn) c.4511C>A (p.Thr1504Asn) | |
| Y | g.12812939C>G | CA414992266 | USP9Y | c.4496C>G (p.Thr1499Ser) n.4508C>G c.4262C>G (p.Thr1421Ser) c.4511C>G (p.Thr1504Ser) | |
| Y | g.12812939C>T | CA414992267 | USP9Y | c.4496C>T (p.Thr1499Ile) n.4508C>T c.4262C>T (p.Thr1421Ile) c.4511C>T (p.Thr1504Ile) | |
| Y | g.12812940del | CA2579747982 | USP9Y | c.4497del (p.Ile1500SerfsTer9) n.4509del c.4263del (p.Ile1422SerfsTer9) c.4512del (p.Ile1505SerfsTer9) | |
| Y | g.12812940C>A | CA519895820 | USP9Y | c.4497C>A (p.Thr1499=) n.4509C>A c.4263C>A (p.Thr1421=) c.4512C>A (p.Thr1504=) | |
| Y | g.12812940C>G | CA519895822 | USP9Y | c.4497C>G (p.Thr1499=) n.4509C>G c.4263C>G (p.Thr1421=) c.4512C>G (p.Thr1504=) | |
| Y | g.12812940C>T | CA519895826 | USP9Y | c.4497C>T (p.Thr1499=) n.4509C>T c.4263C>T (p.Thr1421=) c.4512C>T (p.Thr1504=) | |
| Y | g.12812941A= | CA2470559348 | USP9Y | c.4498A= (p.Ile1500=) n.4510A= c.4264A= (p.Ile1422=) c.4513A= (p.Ile1505=) | |
| Y | g.12812941A>C | CA414992270 | USP9Y | c.4498A>C (p.Ile1500Leu) n.4510A>C c.4264A>C (p.Ile1422Leu) c.4513A>C (p.Ile1505Leu) | |
| Y | g.12812941A>G | CA414992274 | USP9Y | c.4498A>G (p.Ile1500Val) n.4510A>G c.4264A>G (p.Ile1422Val) c.4513A>G (p.Ile1505Val) | dbSNP gnomAD v2 |
| Y | g.12812941A>T | CA414992278 | USP9Y | c.4498A>T (p.Ile1500Phe) n.4510A>T c.4264A>T (p.Ile1422Phe) c.4513A>T (p.Ile1505Phe) | |
| Y | g.12812942T>A | CA414992281 | USP9Y | c.4499T>A (p.Ile1500Asn) n.4511T>A c.4265T>A (p.Ile1422Asn) c.4514T>A (p.Ile1505Asn) | |
| Y | g.12812942T>C | CA414992284 | USP9Y | c.4499T>C (p.Ile1500Thr) n.4511T>C c.4265T>C (p.Ile1422Thr) c.4514T>C (p.Ile1505Thr) | |
| Y | g.12812942T>G | CA414992287 | USP9Y | c.4499T>G (p.Ile1500Ser) n.4511T>G c.4265T>G (p.Ile1422Ser) c.4514T>G (p.Ile1505Ser) | |
| Y | g.12812943C>A | CA519895857 | USP9Y | c.4500C>A (p.Ile1500=) n.4512C>A c.4266C>A (p.Ile1422=) c.4515C>A (p.Ile1505=) | |
| Y | g.12812943C>G | CA414992290 | USP9Y | c.4500C>G (p.Ile1500Met) n.4512C>G c.4266C>G (p.Ile1422Met) c.4515C>G (p.Ile1505Met) | |
| Y | g.12812943C>T | CA519895863 | USP9Y | c.4500C>T (p.Ile1500=) n.4512C>T c.4266C>T (p.Ile1422=) c.4515C>T (p.Ile1505=) | gnomAD v3 gnomAD v4 |
| Y | g.12812944A>C | CA414992296 | USP9Y | c.4501A>C (p.Asn1501His) n.4513A>C c.4267A>C (p.Asn1423His) c.4516A>C (p.Asn1506His) | |
| Y | g.12812944A>G | CA414992298 | USP9Y | c.4501A>G (p.Asn1501Asp) n.4513A>G c.4267A>G (p.Asn1423Asp) c.4516A>G (p.Asn1506Asp) | |
| Y | g.12812944A>T | CA414992305 | USP9Y | c.4501A>T (p.Asn1501Tyr) n.4513A>T c.4267A>T (p.Asn1423Tyr) c.4516A>T (p.Asn1506Tyr) | |
| Y | g.12812945A>C | CA414992307 | USP9Y | c.4502A>C (p.Asn1501Thr) n.4514A>C c.4268A>C (p.Asn1423Thr) c.4517A>C (p.Asn1506Thr) | |
| Y | g.12812945A>G | CA414992310 | USP9Y | c.4502A>G (p.Asn1501Ser) n.4514A>G c.4268A>G (p.Asn1423Ser) c.4517A>G (p.Asn1506Ser) | |
| Y | g.12812945A>T | CA414992312 | USP9Y | c.4502A>T (p.Asn1501Ile) n.4514A>T c.4268A>T (p.Asn1423Ile) c.4517A>T (p.Asn1506Ile) | |
| Y | g.12812946T>A | CA414992315 | USP9Y | c.4503T>A (p.Asn1501Lys) n.4515T>A c.4269T>A (p.Asn1423Lys) c.4518T>A (p.Asn1506Lys) | |
| Y | g.12812946T>C | CA519895889 | USP9Y | c.4503T>C (p.Asn1501=) n.4515T>C c.4269T>C (p.Asn1423=) c.4518T>C (p.Asn1506=) | |
| Y | g.12812946T>G | CA414992316 | USP9Y | c.4503T>G (p.Asn1501Lys) n.4515T>G c.4269T>G (p.Asn1423Lys) c.4518T>G (p.Asn1506Lys) | |
| Y | g.12812947G>A | CA414992320 | USP9Y | c.4504G>A (p.Ala1502Thr) n.4516G>A c.4270G>A (p.Ala1424Thr) c.4519G>A (p.Ala1507Thr) | |
| Y | g.12812947G>C | CA414992323 | USP9Y | c.4504G>C (p.Ala1502Pro) n.4516G>C c.4270G>C (p.Ala1424Pro) c.4519G>C (p.Ala1507Pro) | |
| Y | g.12812947G>T | CA414992325 | USP9Y | c.4504G>T (p.Ala1502Ser) n.4516G>T c.4270G>T (p.Ala1424Ser) c.4519G>T (p.Ala1507Ser) | |
| Y | g.12812948C>A | CA414992332 | USP9Y | c.4505C>A (p.Ala1502Asp) n.4517C>A c.4271C>A (p.Ala1424Asp) c.4520C>A (p.Ala1507Asp) | |
| Y | g.12812948C>G | CA414992329 | USP9Y | c.4505C>G (p.Ala1502Gly) n.4517C>G c.4271C>G (p.Ala1424Gly) c.4520C>G (p.Ala1507Gly) | |
| Y | g.12812948C>T | CA414992328 | USP9Y | c.4505C>T (p.Ala1502Val) n.4517C>T c.4271C>T (p.Ala1424Val) c.4520C>T (p.Ala1507Val) |