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 |
|---|---|---|---|---|---|
| 9 | g.133071112A>C | CA375399922 | CEL | c.1610A>C (p.Asn537Thr) c.1619A>C (p.Asn540Thr) c.*610A>C (n.*610A>C) | |
| 9 | g.133071112A>G | CA375399924 | CEL | c.1610A>G (p.Asn537Ser) c.1619A>G (p.Asn540Ser) c.*610A>G (n.*610A>G) | gnomAD v4 |
| 9 | g.133071112A>T | CA375399925 | CEL | c.1610A>T (p.Asn537Ile) c.1619A>T (p.Asn540Ile) c.*610A>T (n.*610A>T) | |
| 9 | g.133071113C>A | CA375399932 | CEL | c.1611C>A (p.Asn537Lys) c.1620C>A (p.Asn540Lys) c.*611C>A (n.*611C>A) | |
| 9 | g.133071113C>G | CA375399934 | CEL | c.1611C>G (p.Asn537Lys) c.1620C>G (p.Asn540Lys) c.*611C>G (n.*611C>G) | |
| 9 | g.133071113C>T | CA467813864 | CEL | c.1611C>T (p.Asn537=) c.1620C>T (p.Asn540=) c.*611C>T (n.*611C>T) | gnomAD v4 |
| 9 | g.133071114T>A | CA375399939 | CEL | c.1612T>A (p.Phe538Ile) c.1621T>A (p.Phe541Ile) c.*612T>A (n.*612T>A) | |
| 9 | g.133071114T>C | CA375399947 | CEL | c.1612T>C (p.Phe538Leu) c.1621T>C (p.Phe541Leu) c.*612T>C (n.*612T>C) | |
| 9 | g.133071114T>G | CA375399936 | CEL | c.1612T>G (p.Phe538Val) c.1621T>G (p.Phe541Val) c.*612T>G (n.*612T>G) | gnomAD v4 |
| 9 | g.133071115T>A | CA375399951 | CEL | c.1613T>A (p.Phe538Tyr) c.1622T>A (p.Phe541Tyr) c.*613T>A (n.*613T>A) | |
| 9 | g.133071115T>C | CA375399954 | CEL | c.1613T>C (p.Phe538Ser) c.1622T>C (p.Phe541Ser) c.*613T>C (n.*613T>C) | |
| 9 | g.133071115T>G | CA375399963 | CEL | c.1613T>G (p.Phe538Cys) c.1622T>G (p.Phe541Cys) c.*613T>G (n.*613T>G) | |
| 9 | g.133071116C>A | CA375399969 | CEL | c.1614C>A (p.Phe538Leu) c.1623C>A (p.Phe541Leu) c.*614C>A (n.*614C>A) | |
| 9 | g.133071116C>G | CA375399972 | CEL | c.1614C>G (p.Phe538Leu) c.1623C>G (p.Phe541Leu) c.*614C>G (n.*614C>G) | |
| 9 | g.133071116C>T | CA467813866 | CEL | c.1614C>T (p.Phe538=) c.1623C>T (p.Phe541=) c.*614C>T (n.*614C>T) | gnomAD v4 |
| 9 | g.133071117C>A | CA375399978 | CEL | c.1615C>A (p.Leu539Met) c.1624C>A (p.Leu542Met) c.*615C>A (n.*615C>A) | |
| 9 | g.133071117C>G | CA375399984 | CEL | c.1615C>G (p.Leu539Val) c.1624C>G (p.Leu542Val) c.*615C>G (n.*615C>G) | |
| 9 | g.133071117C>T | CA467813867 | CEL | c.1615C>T (p.Leu539=) c.1624C>T (p.Leu542=) c.*615C>T (n.*615C>T) | |
| 9 | g.133071118_133071120del | CA2692304775 | CEL | c.1616_1618del (p.Leu539del) c.1625_1627del (p.Leu542del) c.*616_*618del (n.*616_*618del) | gnomAD v4 |
| 9 | g.133071118T>A | CA375399987 | CEL | c.1616T>A (p.Leu539Gln) c.1625T>A (p.Leu542Gln) c.*616T>A (n.*616T>A) | |
| 9 | g.133071118T>C | CA375399989 | CEL | c.1616T>C (p.Leu539Pro) c.1625T>C (p.Leu542Pro) c.*616T>C (n.*616T>C) | |
| 9 | g.133071118T>G | CA375399992 | CEL | c.1616T>G (p.Leu539Arg) c.1625T>G (p.Leu542Arg) c.*616T>G (n.*616T>G) | |
| 9 | g.133071119G>A | CA467813869 | CEL | c.1617G>A (p.Leu539=) c.1626G>A (p.Leu542=) c.*617G>A (n.*617G>A) | |
| 9 | g.133071119G>C | CA467813870 | CEL | c.1617G>C (p.Leu539=) c.1626G>C (p.Leu542=) c.*617G>C (n.*617G>C) | |
| 9 | g.133071119G>T | CA467813871 | CEL | c.1617G>T (p.Leu539=) c.1626G>T (p.Leu542=) c.*617G>T (n.*617G>T) | |
| 9 | g.133071120C>A | CA5303449 | CEL | c.1618C>A (p.Arg540Ser) c.1627C>A (p.Arg543Ser) c.*618C>A (n.*618C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071120C= | CA1882484004 | CEL | c.1618C= (p.Arg540=) c.1627C= (p.Arg543=) c.*618C= (n.*618C=) | |
| 9 | g.133071120C>G | CA375399996 | CEL | c.1618C>G (p.Arg540Gly) c.1627C>G (p.Arg543Gly) c.*618C>G (n.*618C>G) | |
| 9 | g.133071120C>T | CA5303448 | CEL | c.1618C>T (p.Arg540Cys) c.1627C>T (p.Arg543Cys) c.*618C>T (n.*618C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071121G>A | CA5303450 | CEL | c.1619G>A (p.Arg540His) c.1628G>A (p.Arg543His) c.*619G>A (n.*619G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071121G>C | CA375400000 | CEL | c.1619G>C (p.Arg540Pro) c.1628G>C (p.Arg543Pro) c.*619G>C (n.*619G>C) | gnomAD v4 |
| 9 | g.133071121G= | CA1882484009 | CEL | c.1619G= (p.Arg540=) c.1628G= (p.Arg543=) c.*619G= (n.*619G=) | |
| 9 | g.133071121G>T | CA5303451 | CEL | c.1619G>T (p.Arg540Leu) c.1628G>T (p.Arg543Leu) c.*619G>T (n.*619G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071122C>A | CA467813875 | CEL | c.1620C>A (p.Arg540=) c.1629C>A (p.Arg543=) c.*620C>A (n.*620C>A) | |
| 9 | g.133071122C= | CA1882484013 | CEL | c.1620C= (p.Arg540=) c.1629C= (p.Arg543=) c.*620C= (n.*620C=) | |
| 9 | g.133071122C>G | CA467813874 | CEL | c.1620C>G (p.Arg540=) c.1629C>G (p.Arg543=) c.*620C>G (n.*620C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071122C>T | CA5303452 | CEL | c.1620C>T (p.Arg540=) c.1629C>T (p.Arg543=) c.*620C>T (n.*620C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071123T>A | CA375400008 | CEL | c.1621T>A (p.Tyr541Asn) c.1630T>A (p.Tyr544Asn) c.*621T>A (n.*621T>A) | |
| 9 | g.133071123T>C | CA375400009 | CEL | c.1621T>C (p.Tyr541His) c.1630T>C (p.Tyr544His) c.*621T>C (n.*621T>C) | |
| 9 | g.133071123T>G | CA375400011 | CEL | c.1621T>G (p.Tyr541Asp) c.1630T>G (p.Tyr544Asp) c.*621T>G (n.*621T>G) | |
| 9 | g.133071124A= | CA1882484017 | CEL | c.1622A= (p.Tyr541=) c.1631A= (p.Tyr544=) c.*622A= (n.*622A=) | |
| 9 | g.133071124A>C | CA375400017 | CEL | c.1622A>C (p.Tyr541Ser) c.1631A>C (p.Tyr544Ser) c.*622A>C (n.*622A>C) | dbSNP |
| 9 | g.133071124A>G | CA5303453 | CEL | c.1622A>G (p.Tyr541Cys) c.1631A>G (p.Tyr544Cys) c.*622A>G (n.*622A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071124A>T | CA375400021 | CEL | c.1622A>T (p.Tyr541Phe) c.1631A>T (p.Tyr544Phe) c.*622A>T (n.*622A>T) | |
| 9 | g.133071125C>A | CA375400026 | CEL | c.1623C>A (p.Tyr541Ter) c.1632C>A (p.Tyr544Ter) c.*623C>A (n.*623C>A) | |
| 9 | g.133071125C>G | CA375400027 | CEL | c.1623C>G (p.Tyr541Ter) c.1632C>G (p.Tyr544Ter) c.*623C>G (n.*623C>G) | |
| 9 | g.133071125C>T | CA467813877 | CEL | c.1623C>T (p.Tyr541=) c.1632C>T (p.Tyr544=) c.*623C>T (n.*623C>T) | gnomAD v4 |
| 9 | g.133071126T>A | CA375400032 | CEL | c.1624T>A (p.Trp542Arg) c.1633T>A (p.Trp545Arg) c.*624T>A (n.*624T>A) | |
| 9 | g.133071126T>C | CA375400035 | CEL | c.1624T>C (p.Trp542Arg) c.1633T>C (p.Trp545Arg) c.*624T>C (n.*624T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071126T>G | CA375400037 | CEL | c.1624T>G (p.Trp542Gly) c.1633T>G (p.Trp545Gly) c.*624T>G (n.*624T>G) | |
| 9 | g.133071126T= | CA1882484023 | CEL | c.1624T= (p.Trp542=) c.1633T= (p.Trp545=) c.*624T= (n.*624T=) | |
| 9 | g.133071127G>A | CA375400042 | CEL | c.1625G>A (p.Trp542Ter) c.1634G>A (p.Trp545Ter) c.*625G>A (n.*625G>A) | |
| 9 | g.133071127G>C | CA375400041 | CEL | c.1625G>C (p.Trp542Ser) c.1634G>C (p.Trp545Ser) c.*625G>C (n.*625G>C) | |
| 9 | g.133071127G>T | CA375400040 | CEL | c.1625G>T (p.Trp542Leu) c.1634G>T (p.Trp545Leu) c.*625G>T (n.*625G>T) | |
| 9 | g.133071128G>A | CA375400046 | CEL | c.1626G>A (p.Trp542Ter) c.1635G>A (p.Trp545Ter) c.*626G>A (n.*626G>A) | |
| 9 | g.133071128G>C | CA375400049 | CEL | c.1626G>C (p.Trp542Cys) c.1635G>C (p.Trp545Cys) c.*626G>C (n.*626G>C) | gnomAD v4 |
| 9 | g.133071128G= | CA1882484026 | CEL | c.1626G= (p.Trp542=) c.1635G= (p.Trp545=) c.*626G= (n.*626G=) | |
| 9 | g.133071128G>T | CA200924785 | CEL | c.1626G>T (p.Trp542Cys) c.1635G>T (p.Trp545Cys) c.*626G>T (n.*626G>T) | dbSNP gnomAD v4 |
| 9 | g.133071129A= | CA1882484028 | CEL | c.1627A= (p.Thr543=) c.1636A= (p.Thr546=) c.*627A= (n.*627A=) | |
| 9 | g.133071129A>C | CA375400053 | CEL | c.1627A>C (p.Thr543Pro) c.1636A>C (p.Thr546Pro) c.*627A>C (n.*627A>C) | |
| 9 | g.133071129A>G | CA375400057 | CEL | c.1627A>G (p.Thr543Ala) c.1636A>G (p.Thr546Ala) c.*627A>G (n.*627A>G) | |
| 9 | g.133071129A>T | CA200924789 | CEL | c.1627A>T (p.Thr543Ser) c.1636A>T (p.Thr546Ser) c.*627A>T (n.*627A>T) | dbSNP |
| 9 | g.133071130C>A | CA375400070 | CEL | c.1628C>A (p.Thr543Asn) c.1637C>A (p.Thr546Asn) c.*628C>A (n.*628C>A) | gnomAD v4 |
| 9 | g.133071130C= | CA1882484030 | CEL | c.1628C= (p.Thr543=) c.1637C= (p.Thr546=) c.*628C= (n.*628C=) | |
| 9 | g.133071130C>G | CA375400064 | CEL | c.1628C>G (p.Thr543Ser) c.1637C>G (p.Thr546Ser) c.*628C>G (n.*628C>G) | |
| 9 | g.133071130C>T | CA375400062 | CEL | c.1628C>T (p.Thr543Ile) c.1637C>T (p.Thr546Ile) c.*628C>T (n.*628C>T) | dbSNP gnomAD v2 |
| 9 | g.133071131C>A | CA467813889 | CEL | c.1629C>A (p.Thr543=) c.1638C>A (p.Thr546=) c.*629C>A (n.*629C>A) | |
| 9 | g.133071131C>G | CA467813887 | CEL | c.1629C>G (p.Thr543=) c.1638C>G (p.Thr546=) c.*629C>G (n.*629C>G) | |
| 9 | g.133071131C>T | CA467813888 | CEL | c.1629C>T (p.Thr543=) c.1638C>T (p.Thr546=) c.*629C>T (n.*629C>T) | |
| 9 | g.133071132C>A | CA375400074 | CEL | c.1630C>A (p.Leu544Ile) c.1639C>A (p.Leu547Ile) c.*630C>A (n.*630C>A) | |
| 9 | g.133071132C= | CA1882484035 | CEL | c.1630C= (p.Leu544=) c.1639C= (p.Leu547=) c.*630C= (n.*630C=) | |
| 9 | g.133071132C>G | CA5303454 | CEL | c.1630C>G (p.Leu544Val) c.1639C>G (p.Leu547Val) c.*630C>G (n.*630C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071132C>T | CA375400079 | CEL | c.1630C>T (p.Leu544Phe) c.1639C>T (p.Leu547Phe) c.*630C>T (n.*630C>T) | |
| 9 | g.133071133T>A | CA375400085 | CEL | c.1631T>A (p.Leu544His) c.1640T>A (p.Leu547His) c.*631T>A (n.*631T>A) | |
| 9 | g.133071133T>C | CA375400086 | CEL | c.1631T>C (p.Leu544Pro) c.1640T>C (p.Leu547Pro) c.*631T>C (n.*631T>C) | |
| 9 | g.133071133T>G | CA375400089 | CEL | c.1631T>G (p.Leu544Arg) c.1640T>G (p.Leu547Arg) c.*631T>G (n.*631T>G) | |
| 9 | g.133071134C>A | CA467813893 | CEL | c.1632C>A (p.Leu544=) c.1641C>A (p.Leu547=) c.*632C>A (n.*632C>A) | |
| 9 | g.133071134C>G | CA467813894 | CEL | c.1632C>G (p.Leu544=) c.1641C>G (p.Leu547=) c.*632C>G (n.*632C>G) | |
| 9 | g.133071134C>T | CA467813892 | CEL | c.1632C>T (p.Leu544=) c.1641C>T (p.Leu547=) c.*632C>T (n.*632C>T) | gnomAD v4 |
| 9 | g.133071135A= | CA1882484037 | CEL | c.1633A= (p.Thr545=) c.1642A= (p.Thr548=) c.*633A= (n.*633A=) | |
| 9 | g.133071135A>C | CA375400099 | CEL | c.1633A>C (p.Thr545Pro) c.1642A>C (p.Thr548Pro) c.*633A>C (n.*633A>C) | |
| 9 | g.133071135A>G | CA375400092 | CEL | c.1633A>G (p.Thr545Ala) c.1642A>G (p.Thr548Ala) c.*633A>G (n.*633A>G) | dbSNP |
| 9 | g.133071135A>T | CA375400096 | CEL | c.1633A>T (p.Thr545Ser) c.1642A>T (p.Thr548Ser) c.*633A>T (n.*633A>T) | |
| 9 | g.133071136C>A | CA375400102 | CEL | c.1634C>A (p.Thr545Asn) c.1643C>A (p.Thr548Asn) c.*634C>A (n.*634C>A) | |
| 9 | g.133071136C= | CA1882484039 | CEL | c.1634C= (p.Thr545=) c.1643C= (p.Thr548=) c.*634C= (n.*634C=) | |
| 9 | g.133071136C>G | CA375400106 | CEL | c.1634C>G (p.Thr545Ser) c.1643C>G (p.Thr548Ser) c.*634C>G (n.*634C>G) | gnomAD v4 |
| 9 | g.133071136C>T | CA5303455 | CEL | c.1634C>T (p.Thr545Ile) c.1643C>T (p.Thr548Ile) c.*634C>T (n.*634C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071137C>A | CA467813896 | CEL | c.1635C>A (p.Thr545=) c.1644C>A (p.Thr548=) c.*635C>A (n.*635C>A) | gnomAD v4 |
| 9 | g.133071137C= | CA1882484042 | CEL | c.1635C= (p.Thr545=) c.1644C= (p.Thr548=) c.*635C= (n.*635C=) | |
| 9 | g.133071137C>G | CA467813897 | CEL | c.1635C>G (p.Thr545=) c.1644C>G (p.Thr548=) c.*635C>G (n.*635C>G) | |
| 9 | g.133071137C>T | CA467813898 | CEL | c.1635C>T (p.Thr545=) c.1644C>T (p.Thr548=) c.*635C>T (n.*635C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071138T>A | CA375400113 | CEL | c.1636T>A (p.Tyr546Asn) c.1645T>A (p.Tyr549Asn) c.*636T>A (n.*636T>A) | |
| 9 | g.133071138T>C | CA5303456 | CEL | c.1636T>C (p.Tyr546His) c.1645T>C (p.Tyr549His) c.*636T>C (n.*636T>C) | dbSNP ExAC |
| 9 | g.133071138T>G | CA375400117 | CEL | c.1636T>G (p.Tyr546Asp) c.1645T>G (p.Tyr549Asp) c.*636T>G (n.*636T>G) | |
| 9 | g.133071138T= | CA1882484044 | CEL | c.1636T= (p.Tyr546=) c.1645T= (p.Tyr549=) c.*636T= (n.*636T=) | |
| 9 | g.133071139A= | CA1882484046 | CEL | c.1637A= (p.Tyr546=) c.1646A= (p.Tyr549=) c.*637A= (n.*637A=) | |
| 9 | g.133071139A>C | CA375400124 | CEL | c.1637A>C (p.Tyr546Ser) c.1646A>C (p.Tyr549Ser) c.*637A>C (n.*637A>C) | |
| 9 | g.133071139A>G | CA375400127 | CEL | c.1637A>G (p.Tyr546Cys) c.1646A>G (p.Tyr549Cys) c.*637A>G (n.*637A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071139A>T | CA200924800 | CEL | c.1637A>T (p.Tyr546Phe) c.1646A>T (p.Tyr549Phe) c.*637A>T (n.*637A>T) | dbSNP |
| 9 | g.133071140_133071166del | CA2692304776 | CEL | c.1638_1664del (p.Tyr546Ter) c.1647_1673del (p.Tyr549Ter) c.*638_*664del (n.*638_*664del) | dbSNP gnomAD v4 |
| 9 | g.133071140T>A | CA200924803 | CEL | c.1638T>A (p.Tyr546Ter) c.1647T>A (p.Tyr549Ter) c.*638T>A (n.*638T>A) | dbSNP |
| 9 | g.133071140T>C | CA467813903 | CEL | c.1638T>C (p.Tyr546=) c.1647T>C (p.Tyr549=) c.*638T>C (n.*638T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071140T>G | CA375400134 | CEL | c.1638T>G (p.Tyr546Ter) c.1647T>G (p.Tyr549Ter) c.*638T>G (n.*638T>G) | |
| 9 | g.133071140T= | CA1882484048 | CEL | c.1638T= (p.Tyr546=) c.1647T= (p.Tyr549=) c.*638T= (n.*638T=) | |
| 9 | g.133071141C>A | CA375400139 | CEL | c.1639C>A (p.Leu547Met) c.1648C>A (p.Leu550Met) c.*639C>A (n.*639C>A) | |
| 9 | g.133071141C>G | CA375400142 | CEL | c.1639C>G (p.Leu547Val) c.1648C>G (p.Leu550Val) c.*639C>G (n.*639C>G) | |
| 9 | g.133071141C>T | CA467813906 | CEL | c.1639C>T (p.Leu547=) c.1648C>T (p.Leu550=) c.*639C>T (n.*639C>T) | |
| 9 | g.133071142T>A | CA375400147 | CEL | c.1640T>A (p.Leu547Gln) c.1649T>A (p.Leu550Gln) c.*640T>A (n.*640T>A) | |
| 9 | g.133071142T>C | CA375400153 | CEL | c.1640T>C (p.Leu547Pro) c.1649T>C (p.Leu550Pro) c.*640T>C (n.*640T>C) | |
| 9 | g.133071142T>G | CA375400148 | CEL | c.1640T>G (p.Leu547Arg) c.1649T>G (p.Leu550Arg) c.*640T>G (n.*640T>G) | |
| 9 | g.133071143G>A | CA467813907 | CEL | c.1641G>A (p.Leu547=) c.1650G>A (p.Leu550=) c.*641G>A (n.*641G>A) | |
| 9 | g.133071143G>C | CA467813908 | CEL | c.1641G>C (p.Leu547=) c.1650G>C (p.Leu550=) c.*641G>C (n.*641G>C) | |
| 9 | g.133071143G>T | CA467813909 | CEL | c.1641G>T (p.Leu547=) c.1650G>T (p.Leu550=) c.*641G>T (n.*641G>T) | |
| 9 | g.133071144G>A | CA5303457 | CEL | c.1642G>A (p.Ala548Thr) c.1651G>A (p.Ala551Thr) c.*642G>A (n.*642G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071144G>C | CA375400156 | CEL | c.1642G>C (p.Ala548Pro) c.1651G>C (p.Ala551Pro) c.*642G>C (n.*642G>C) | |
| 9 | g.133071144G= | CA1882484050 | CEL | c.1642G= (p.Ala548=) c.1651G= (p.Ala551=) c.*642G= (n.*642G=) | |
| 9 | g.133071144G>T | CA375400158 | CEL | c.1642G>T (p.Ala548Ser) c.1651G>T (p.Ala551Ser) c.*642G>T (n.*642G>T) | gnomAD v4 |
| 9 | g.133071145C>A | CA375400162 | CEL | c.1643C>A (p.Ala548Glu) c.1652C>A (p.Ala551Glu) c.*643C>A (n.*643C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071145C= | CA1882484052 | CEL | c.1643C= (p.Ala548=) c.1652C= (p.Ala551=) c.*643C= (n.*643C=) | |
| 9 | g.133071145C>G | CA375400165 | CEL | c.1643C>G (p.Ala548Gly) c.1652C>G (p.Ala551Gly) c.*643C>G (n.*643C>G) | |
| 9 | g.133071145C>T | CA5303458 | CEL | c.1643C>T (p.Ala548Val) c.1652C>T (p.Ala551Val) c.*643C>T (n.*643C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071146G>A | CA467813913 | CEL | c.1644G>A (p.Ala548=) c.1653G>A (p.Ala551=) c.*644G>A (n.*644G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071146G>C | CA467813914 | CEL | c.1644G>C (p.Ala548=) c.1653G>C (p.Ala551=) c.*644G>C (n.*644G>C) | |
| 9 | g.133071146G= | CA1882484054 | CEL | c.1644G= (p.Ala548=) c.1653G= (p.Ala551=) c.*644G= (n.*644G=) | |
| 9 | g.133071146G>T | CA467813915 | CEL | c.1644G>T (p.Ala548=) c.1653G>T (p.Ala551=) c.*644G>T (n.*644G>T) | dbSNP gnomAD v4 |
| 9 | g.133071147C>A | CA375400172 | CEL | c.1645C>A (p.Leu549Met) c.1654C>A (p.Leu552Met) c.*645C>A (n.*645C>A) | |
| 9 | g.133071147C= | CA1882484056 | CEL | c.1645C= (p.Leu549=) c.1654C= (p.Leu552=) c.*645C= (n.*645C=) | |
| 9 | g.133071147C>G | CA375400174 | CEL | c.1645C>G (p.Leu549Val) c.1654C>G (p.Leu552Val) c.*645C>G (n.*645C>G) | |
| 9 | g.133071147C>T | CA5303459 | CEL | c.1645C>T (p.Leu549=) c.1654C>T (p.Leu552=) c.*645C>T (n.*645C>T) | dbSNP ExAC gnomAD v2 |
| 9 | g.133071148T>A | CA375400180 | CEL | c.1646T>A (p.Leu549Gln) c.1655T>A (p.Leu552Gln) c.*646T>A (n.*646T>A) | |
| 9 | g.133071148T>C | CA375400183 | CEL | c.1646T>C (p.Leu549Pro) c.1655T>C (p.Leu552Pro) c.*646T>C (n.*646T>C) | gnomAD v4 |
| 9 | g.133071148T>G | CA375400185 | CEL | c.1646T>G (p.Leu549Arg) c.1655T>G (p.Leu552Arg) c.*646T>G (n.*646T>G) | |
| 9 | g.133071149G>A | CA5303460 | CEL | c.1647G>A (p.Leu549=) c.1656G>A (p.Leu552=) c.*647G>A (n.*647G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071149G>C | CA467813921 | CEL | c.1647G>C (p.Leu549=) c.1656G>C (p.Leu552=) c.*647G>C (n.*647G>C) | |
| 9 | g.133071149G= | CA1882484058 | CEL | c.1647G= (p.Leu549=) c.1656G= (p.Leu552=) c.*647G= (n.*647G=) | |
| 9 | g.133071149G>T | CA467813922 | CEL | c.1647G>T (p.Leu549=) c.1656G>T (p.Leu552=) c.*647G>T (n.*647G>T) | gnomAD v4 |
| 9 | g.133071149_133071185delinsGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCC | CA1882484059 | CEL | c.1647_1683delinsGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCC (p.Leu549=) c.1656_1692delinsGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCC (p.Leu552=) c.*647_*683delinsGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCC (n.*647_*683delinsGCCCACAGTGACCGACCAGGAGGCCACCCCTGTGCCC) | |
| 9 | g.133071150C>A | CA375400193 | CEL | c.1648C>A (p.Pro550Thr) c.1657C>A (p.Pro553Thr) c.*648C>A (n.*648C>A) | |
| 9 | g.133071150C>G | CA375400190 | CEL | c.1648C>G (p.Pro550Ala) c.1657C>G (p.Pro553Ala) c.*648C>G (n.*648C>G) | |
| 9 | g.133071150C>T | CA375400192 | CEL | c.1648C>T (p.Pro550Ser) c.1657C>T (p.Pro553Ser) c.*648C>T (n.*648C>T) | |
| 9 | g.133071157_133071192del | CA200924830 | CEL | c.1655_1690del (p.Val552_Thr563del) c.1664_1699del (p.Val555_Thr566del) c.*655_*690del (n.*655_*690del) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071151C>A | CA375400197 | CEL | c.1649C>A (p.Pro550His) c.1658C>A (p.Pro553His) c.*649C>A (n.*649C>A) | |
| 9 | g.133071151C= | CA1882484062 | CEL | c.1649C= (p.Pro550=) c.1658C= (p.Pro553=) c.*649C= (n.*649C=) | |
| 9 | g.133071151C>G | CA375400200 | CEL | c.1649C>G (p.Pro550Arg) c.1658C>G (p.Pro553Arg) c.*649C>G (n.*649C>G) | |
| 9 | g.133071151C>T | CA375400202 | CEL | c.1649C>T (p.Pro550Leu) c.1658C>T (p.Pro553Leu) c.*649C>T (n.*649C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071152C>A | CA467813926 | CEL | c.1650C>A (p.Pro550=) c.1659C>A (p.Pro553=) c.*650C>A (n.*650C>A) | |
| 9 | g.133071152C= | CA1882484064 | CEL | c.1650C= (p.Pro550=) c.1659C= (p.Pro553=) c.*650C= (n.*650C=) | |
| 9 | g.133071152C>G | CA467813927 | CEL | c.1650C>G (p.Pro550=) c.1659C>G (p.Pro553=) c.*650C>G (n.*650C>G) | |
| 9 | g.133071152C>T | CA467813928 | CEL | c.1650C>T (p.Pro550=) c.1659C>T (p.Pro553=) c.*650C>T (n.*650C>T) | dbSNP gnomAD v4 |
| 9 | g.133071153A= | CA1882484065 | CEL | c.1651A= (p.Thr551=) c.1660A= (p.Thr554=) c.*651A= (n.*651A=) | |
| 9 | g.133071153A>C | CA375400206 | CEL | c.1651A>C (p.Thr551Pro) c.1660A>C (p.Thr554Pro) c.*651A>C (n.*651A>C) | |
| 9 | g.133071153A>G | CA375400208 | CEL | c.1651A>G (p.Thr551Ala) c.1660A>G (p.Thr554Ala) c.*651A>G (n.*651A>G) | dbSNP |
| 9 | g.133071153A>T | CA375400210 | CEL | c.1651A>T (p.Thr551Ser) c.1660A>T (p.Thr554Ser) c.*651A>T (n.*651A>T) | |
| 9 | g.133071154C>A | CA375400213 | CEL | c.1652C>A (p.Thr551Lys) c.1661C>A (p.Thr554Lys) c.*652C>A (n.*652C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071154C= | CA1882484066 | CEL | c.1652C= (p.Thr551=) c.1661C= (p.Thr554=) c.*652C= (n.*652C=) | |
| 9 | g.133071154C>G | CA375400216 | CEL | c.1652C>G (p.Thr551Arg) c.1661C>G (p.Thr554Arg) c.*652C>G (n.*652C>G) | |
| 9 | g.133071154C>T | CA375400220 | CEL | c.1652C>T (p.Thr551Ile) c.1661C>T (p.Thr554Ile) c.*652C>T (n.*652C>T) | dbSNP gnomAD v4 |
| 9 | g.133071155A>C | CA467813933 | CEL | c.1653A>C (p.Thr551=) c.1662A>C (p.Thr554=) c.*653A>C (n.*653A>C) | |
| 9 | g.133071155A>G | CA467813935 | CEL | c.1653A>G (p.Thr551=) c.1662A>G (p.Thr554=) c.*653A>G (n.*653A>G) | |
| 9 | g.133071155A>T | CA467813936 | CEL | c.1653A>T (p.Thr551=) c.1662A>T (p.Thr554=) c.*653A>T (n.*653A>T) | |
| 9 | g.133071156G>A | CA375400223 | CEL | c.1654G>A (p.Val552Met) c.1663G>A (p.Val555Met) c.*654G>A (n.*654G>A) | COSMIC |
| 9 | g.133071156G>C | CA375400225 | CEL | c.1654G>C (p.Val552Leu) c.1663G>C (p.Val555Leu) c.*654G>C (n.*654G>C) | |
| 9 | g.133071156G>T | CA375400231 | CEL | c.1654G>T (p.Val552Leu) c.1663G>T (p.Val555Leu) c.*654G>T (n.*654G>T) | gnomAD v4 |
| 9 | g.133071157T>A | CA375400237 | CEL | c.1655T>A (p.Val552Glu) c.1664T>A (p.Val555Glu) c.*655T>A (n.*655T>A) | |
| 9 | g.133071157T>C | CA375400233 | CEL | c.1655T>C (p.Val552Ala) c.1664T>C (p.Val555Ala) c.*655T>C (n.*655T>C) | |
| 9 | g.133071157T>G | CA375400236 | CEL | c.1655T>G (p.Val552Gly) c.1664T>G (p.Val555Gly) c.*655T>G (n.*655T>G) | |
| 9 | g.133071158G>A | CA467813938 | CEL | c.1656G>A (p.Val552=) c.1665G>A (p.Val555=) c.*656G>A (n.*656G>A) | gnomAD v4 |
| 9 | g.133071158G>C | CA467813939 | CEL | c.1656G>C (p.Val552=) c.1665G>C (p.Val555=) c.*656G>C (n.*656G>C) | |
| 9 | g.133071158G>T | CA467813940 | CEL | c.1656G>T (p.Val552=) c.1665G>T (p.Val555=) c.*656G>T (n.*656G>T) | |
| 9 | g.133071159A>C | CA375400238 | CEL | c.1657A>C (p.Thr553Pro) c.1666A>C (p.Thr556Pro) c.*657A>C (n.*657A>C) | |
| 9 | g.133071159A>G | CA375400240 | CEL | c.1657A>G (p.Thr553Ala) c.1666A>G (p.Thr556Ala) c.*657A>G (n.*657A>G) | |
| 9 | g.133071159A>T | CA375400239 | CEL | c.1657A>T (p.Thr553Ser) c.1666A>T (p.Thr556Ser) c.*657A>T (n.*657A>T) | |
| 9 | g.133071160C>A | CA375400242 | CEL | c.1658C>A (p.Thr553Asn) c.1667C>A (p.Thr556Asn) c.*658C>A (n.*658C>A) | |
| 9 | g.133071160C= | CA1882484068 | CEL | c.1658C= (p.Thr553=) c.1667C= (p.Thr556=) c.*658C= (n.*658C=) | |
| 9 | g.133071160C>G | CA375400245 | CEL | c.1658C>G (p.Thr553Ser) c.1667C>G (p.Thr556Ser) c.*658C>G (n.*658C>G) | |
| 9 | g.133071160C>T | CA5303461 | CEL | c.1658C>T (p.Thr553Ile) c.1667C>T (p.Thr556Ile) c.*658C>T (n.*658C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071161C>A | CA5303463 | CEL | c.1659C>A (p.Thr553=) c.1668C>A (p.Thr556=) c.*659C>A (n.*659C>A) | dbSNP ExAC |
| 9 | g.133071161C= | CA1882484070 | CEL | c.1659C= (p.Thr553=) c.1668C= (p.Thr556=) c.*659C= (n.*659C=) | |
| 9 | g.133071161C>G | CA5303462 | CEL | c.1659C>G (p.Thr553=) c.1668C>G (p.Thr556=) c.*659C>G (n.*659C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071161C>T | CA5303464 | CEL | c.1659C>T (p.Thr553=) c.1668C>T (p.Thr556=) c.*659C>T (n.*659C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071162G>A | CA375400255 | CEL | c.1660G>A (p.Asp554Asn) c.1669G>A (p.Asp557Asn) c.*660G>A (n.*660G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071162G>C | CA375400256 | CEL | c.1660G>C (p.Asp554His) c.1669G>C (p.Asp557His) c.*660G>C (n.*660G>C) | gnomAD v4 |
| 9 | g.133071162G= | CA1882484072 | CEL | c.1660G= (p.Asp554=) c.1669G= (p.Asp557=) c.*660G= (n.*660G=) | |
| 9 | g.133071162G>T | CA375400258 | CEL | c.1660G>T (p.Asp554Tyr) c.1669G>T (p.Asp557Tyr) c.*660G>T (n.*660G>T) | gnomAD v4 |
| 9 | g.133071163A>C | CA375400261 | CEL | c.1661A>C (p.Asp554Ala) c.1670A>C (p.Asp557Ala) c.*661A>C (n.*661A>C) | |
| 9 | g.133071163A>G | CA375400263 | CEL | c.1661A>G (p.Asp554Gly) c.1670A>G (p.Asp557Gly) c.*661A>G (n.*661A>G) | |
| 9 | g.133071163A>T | CA375400264 | CEL | c.1661A>T (p.Asp554Val) c.1670A>T (p.Asp557Val) c.*661A>T (n.*661A>T) | |
| 9 | g.133071164C>A | CA375400269 | CEL | c.1662C>A (p.Asp554Glu) c.1671C>A (p.Asp557Glu) c.*662C>A (n.*662C>A) | |
| 9 | g.133071164C>G | CA375400267 | CEL | c.1662C>G (p.Asp554Glu) c.1671C>G (p.Asp557Glu) c.*662C>G (n.*662C>G) | |
| 9 | g.133071164C>T | CA467813947 | CEL | c.1662C>T (p.Asp554=) c.1671C>T (p.Asp557=) c.*662C>T (n.*662C>T) | |
| 9 | g.133071165C>A | CA375400274 | CEL | c.1663C>A (p.Gln555Lys) c.1672C>A (p.Gln558Lys) c.*663C>A (n.*663C>A) | |
| 9 | g.133071165C= | CA1882484074 | CEL | c.1663C= (p.Gln555=) c.1672C= (p.Gln558=) c.*663C= (n.*663C=) | |
| 9 | g.133071165C>G | CA375400276 | CEL | c.1663C>G (p.Gln555Glu) c.1672C>G (p.Gln558Glu) c.*663C>G (n.*663C>G) | dbSNP gnomAD v4 |
| 9 | g.133071165C>T | CA375400278 | CEL | c.1663C>T (p.Gln555Ter) c.1672C>T (p.Gln558Ter) c.*663C>T (n.*663C>T) | dbSNP gnomAD v2 |
| 9 | g.133071166A= | CA1882484076 | CEL | c.1664A= (p.Gln555=) c.1673A= (p.Gln558=) c.*664A= (n.*664A=) | |
| 9 | g.133071166A>C | CA375400280 | CEL | c.1664A>C (p.Gln555Pro) c.1673A>C (p.Gln558Pro) c.*664A>C (n.*664A>C) | |
| 9 | g.133071166A>G | CA5303465 | CEL | c.1664A>G (p.Gln555Arg) c.1673A>G (p.Gln558Arg) c.*664A>G (n.*664A>G) | dbSNP ExAC gnomAD v4 |
| 9 | g.133071166A>T | CA375400281 | CEL | c.1664A>T (p.Gln555Leu) c.1673A>T (p.Gln558Leu) c.*664A>T (n.*664A>T) | |
| 9 | g.133071167G>A | CA467813954 | CEL | c.1665G>A (p.Gln555=) c.1674G>A (p.Gln558=) c.*665G>A (n.*665G>A) | |
| 9 | g.133071167G>C | CA375400282 | CEL | c.1665G>C (p.Gln555His) c.1674G>C (p.Gln558His) c.*665G>C (n.*665G>C) | |
| 9 | g.133071167G>T | CA375400284 | CEL | c.1665G>T (p.Gln555His) c.1674G>T (p.Gln558His) c.*665G>T (n.*665G>T) | |
| 9 | g.133071167_133071200delinsGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCC | CA1882484078 | CEL | c.1665_1698delinsGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCC (p.Gln555=) c.1674_1707delinsGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCC (p.Gln558=) c.*665_*698delinsGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCC (n.*665_*698delinsGGAGGCCACCCCTGTGCCCCCCACAGGGGACTCC) | |
| 9 | g.133071168G>A | CA375400286 | CEL | c.1666G>A (p.Glu556Lys) c.1675G>A (p.Glu559Lys) c.*666G>A (n.*666G>A) | |
| 9 | g.133071168G>C | CA375400288 | CEL | c.1666G>C (p.Glu556Gln) c.1675G>C (p.Glu559Gln) c.*666G>C (n.*666G>C) | |
| 9 | g.133071168G>T | CA375400290 | CEL | c.1666G>T (p.Glu556Ter) c.1675G>T (p.Glu559Ter) c.*666G>T (n.*666G>T) | |
| 9 | g.133071176_133071208del | CA5303466 | CEL | c.1674_1706del (p.Pro559_Thr569del) c.1683_1715del (p.Pro562_Thr572del) c.*674_*706del (n.*674_*706del) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.133071169A>C | CA375400296 | CEL | c.1667A>C (p.Glu556Ala) c.1676A>C (p.Glu559Ala) c.*667A>C (n.*667A>C) | |
| 9 | g.133071169A>G | CA375400294 | CEL | c.1667A>G (p.Glu556Gly) c.1676A>G (p.Glu559Gly) c.*667A>G (n.*667A>G) | |
| 9 | g.133071169A>T | CA375400293 | CEL | c.1667A>T (p.Glu556Val) c.1676A>T (p.Glu559Val) c.*667A>T (n.*667A>T) | |
| 9 | g.133071170G>A | CA467813956 | CEL | c.1668G>A (p.Glu556=) c.1677G>A (p.Glu559=) c.*668G>A (n.*668G>A) | |
| 9 | g.133071170G>C | CA200924854 | CEL | c.1668G>C (p.Glu556Asp) c.1677G>C (p.Glu559Asp) c.*668G>C (n.*668G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071170G= | CA1882484080 | CEL | c.1668G= (p.Glu556=) c.1677G= (p.Glu559=) c.*668G= (n.*668G=) | |
| 9 | g.133071170G>T | CA375400297 | CEL | c.1668G>T (p.Glu556Asp) c.1677G>T (p.Glu559Asp) c.*668G>T (n.*668G>T) | |
| 9 | g.133071171G>A | CA375400299 | CEL | c.1669G>A (p.Ala557Thr) c.1678G>A (p.Ala560Thr) c.*669G>A (n.*669G>A) | gnomAD v4 |
| 9 | g.133071171G>C | CA5303467 | CEL | c.1669G>C (p.Ala557Pro) c.1678G>C (p.Ala560Pro) c.*669G>C (n.*669G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071171G= | CA1882484082 | CEL | c.1669G= (p.Ala557=) c.1678G= (p.Ala560=) c.*669G= (n.*669G=) | |
| 9 | g.133071171G>T | CA375400305 | CEL | c.1669G>T (p.Ala557Ser) c.1678G>T (p.Ala560Ser) c.*669G>T (n.*669G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071172C>A | CA375400308 | CEL | c.1670C>A (p.Ala557Asp) c.1679C>A (p.Ala560Asp) c.*670C>A (n.*670C>A) | |
| 9 | g.133071172C= | CA1882484084 | CEL | c.1670C= (p.Ala557=) c.1679C= (p.Ala560=) c.*670C= (n.*670C=) | |
| 9 | g.133071172C>G | CA375400310 | CEL | c.1670C>G (p.Ala557Gly) c.1679C>G (p.Ala560Gly) c.*670C>G (n.*670C>G) | dbSNP |
| 9 | g.133071172C>T | CA375400312 | CEL | c.1670C>T (p.Ala557Val) c.1679C>T (p.Ala560Val) c.*670C>T (n.*670C>T) | gnomAD v4 |
| 9 | g.133071173C>A | CA467813959 | CEL | c.1671C>A (p.Ala557=) c.1680C>A (p.Ala560=) c.*671C>A (n.*671C>A) | gnomAD v4 |
| 9 | g.133071173C>G | CA467813960 | CEL | c.1671C>G (p.Ala557=) c.1680C>G (p.Ala560=) c.*671C>G (n.*671C>G) | |
| 9 | g.133071173C>T | CA467813961 | CEL | c.1671C>T (p.Ala557=) c.1680C>T (p.Ala560=) c.*671C>T (n.*671C>T) | |
| 9 | g.133071174del | CA2692304779 | CEL | c.1672del (p.Thr558ProfsTer?) c.1681del (p.Thr561ProfsTer?) c.*672del (n.*672del) | gnomAD v4 |
| 9 | g.133071174A= | CA1882484088 | CEL | c.1672A= (p.Thr558=) c.1681A= (p.Thr561=) c.*672A= (n.*672A=) | |
| 9 | g.133071174A>C | CA375400314 | CEL | c.1672A>C (p.Thr558Pro) c.1681A>C (p.Thr561Pro) c.*672A>C (n.*672A>C) | |
| 9 | g.133071174A>G | CA5303469 | CEL | c.1672A>G (p.Thr558Ala) c.1681A>G (p.Thr561Ala) c.*672A>G (n.*672A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071174A>T | CA375400318 | CEL | c.1672A>T (p.Thr558Ser) c.1681A>T (p.Thr561Ser) c.*672A>T (n.*672A>T) | |
| 9 | g.133071174_133071175delinsAC | CA1882484087 | CEL | c.1672_1673delinsAC (p.Thr558=) c.1681_1682delinsAC (p.Thr561=) c.*672_*673delinsAC (n.*672_*673delinsAC) | |
| 9 | g.133071174_133071175insGT | CA2692304780 | CEL | c.1672_1673insGT (p.Thr558SerfsTer?) c.1681_1682insGT (p.Thr561SerfsTer?) c.*672_*673insGT (n.*672_*673insGT) | gnomAD v4 |
| 9 | g.133071174_133071175insGTT | CA5303468 | CEL | c.1672_1673insGTT (p.Thr558delinsSerSer) c.1681_1682insGTT (p.Thr561delinsSerSer) c.*672_*673insGTT (n.*672_*673insGTT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071174_133071175insGTTCCATG | CA2692304781 | CEL | c.1672_1673insGTTCCATG (p.Thr558SerfsTer?) c.1681_1682insGTTCCATG (p.Thr561SerfsTer?) c.*672_*673insGTTCCATG (n.*672_*673insGTTCCATG) | gnomAD v4 |
| 9 | g.133071175C>A | CA375400323 | CEL | c.1673C>A (p.Thr558Asn) c.1682C>A (p.Thr561Asn) c.*673C>A (n.*673C>A) | gnomAD v4 COSMIC |
| 9 | g.133071175C= | CA1882484091 | CEL | c.1673C= (p.Thr558=) c.1682C= (p.Thr561=) c.*673C= (n.*673C=) | |
| 9 | g.133071175C>G | CA375400324 | CEL | c.1673C>G (p.Thr558Ser) c.1682C>G (p.Thr561Ser) c.*673C>G (n.*673C>G) | dbSNP |
| 9 | g.133071175C>T | CA375400321 | CEL | c.1673C>T (p.Thr558Ile) c.1682C>T (p.Thr561Ile) c.*673C>T (n.*673C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071178del | CA5303470 | CEL | c.1676del (p.Pro559LeufsTer?) c.1685del (p.Pro562LeufsTer?) c.*676del (n.*676del) | dbSNP ExAC |
| 9 | g.133071175_133071186delinsGTTCCATGCCCT | CA2573053128 | CEL | c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) c.1682_1693delinsGTTCCATGCCCT (p.Thr561_Pro565delinsSerSerMetProSer) c.*673_*684delinsGTTCCATGCCCT (n.*673_*684delinsGTTCCATGCCCT) | ClinVar dbSNP |
| 9 | g.133071176C>A | CA467813970 | CEL | c.1674C>A (p.Thr558=) c.1683C>A (p.Thr561=) c.*674C>A (n.*674C>A) | gnomAD v3 gnomAD v4 |
| 9 | g.133071176C= | CA1882484094 | CEL | c.1674C= (p.Thr558=) c.1683C= (p.Thr561=) c.*674C= (n.*674C=) | |
| 9 | g.133071176C>G | CA467813971 | CEL | c.1674C>G (p.Thr558=) c.1683C>G (p.Thr561=) c.*674C>G (n.*674C>G) | dbSNP |
| 9 | g.133071176C>T | CA5303472 | CEL | c.1674C>T (p.Thr558=) c.1683C>T (p.Thr561=) c.*674C>T (n.*674C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071176_133071177insATGC | CA2692304782 | CEL | c.1674_1675insATGC (p.Pro559MetfsTer19) c.1683_1684insATGC (p.Pro562MetfsTer19) c.*674_*675insATGC (n.*674_*675insATGC) | gnomAD v4 |
| 9 | g.133071176_133071179delinsCCCT | CA1882484095 | CEL | c.1674_1677delinsCCCT (p.Thr558=) c.1683_1686delinsCCCT (p.Thr561=) c.*674_*677delinsCCCT (n.*674_*677delinsCCCT) | |
| 9 | g.133071179_133071243del | CA2692304783 | CEL | c.1677_1741del (p.Val560ArgfsTer6) c.1686_1750del (p.Val563ArgfsTer6) c.*677_*723+18del | gnomAD v4 |
| 9 | g.133071177C>A | CA375400333 | CEL | c.1675C>A (p.Pro559Thr) c.1684C>A (p.Pro562Thr) c.*675C>A (n.*675C>A) | |
| 9 | g.133071177C= | CA1882484098 | CEL | c.1675C= (p.Pro559=) c.1684C= (p.Pro562=) c.*675C= (n.*675C=) | |
| 9 | g.133071177C>G | CA375400336 | CEL | c.1675C>G (p.Pro559Ala) c.1684C>G (p.Pro562Ala) c.*675C>G (n.*675C>G) | |
| 9 | g.133071177C>T | CA5303473 | CEL | c.1675C>T (p.Pro559Ser) c.1684C>T (p.Pro562Ser) c.*675C>T (n.*675C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071177_133071179del | CA5303471 | CEL | c.1675_1677del (p.Pro559del) c.1684_1686del (p.Pro562del) c.*675_*677del (n.*675_*677del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071179_133071211dup | CA1129717558 | CEL | c.1677_1709dup (p.Pro570_Val571insValProProThrGlyAspSerGluAlaThrPro) c.1686_1718dup (p.Pro573_Val574insValProProThrGlyAspSerGluAlaThrPro) c.*677_*709dup (n.*677_*709dup) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071179_133071211del | CA2692304784 | CEL | c.1677_1709del (p.Val560_Pro570del) c.1686_1718del (p.Val563_Pro573del) c.*677_*709del (n.*677_*709del) | gnomAD v4 |
| 9 | g.133071178C>A | CA375400346 | CEL | c.1676C>A (p.Pro559His) c.1685C>A (p.Pro562His) c.*676C>A (n.*676C>A) | gnomAD v4 |
| 9 | g.133071178C>G | CA375400350 | CEL | c.1676C>G (p.Pro559Arg) c.1685C>G (p.Pro562Arg) c.*676C>G (n.*676C>G) | |
| 9 | g.133071178C>T | CA375400348 | CEL | c.1676C>T (p.Pro559Leu) c.1685C>T (p.Pro562Leu) c.*676C>T (n.*676C>T) | gnomAD v4 |
| 9 | g.133071179del | CA2579495631 | CEL | c.1677del (p.Val560CysfsTer?) c.1686del (p.Val563CysfsTer?) c.*677del (n.*677del) | ClinVar |
| 9 | g.133071179T>A | CA467813977 | CEL | c.1677T>A (p.Pro559=) c.1686T>A (p.Pro562=) c.*677T>A (n.*677T>A) | |
| 9 | g.133071179T>C | CA5303475 | CEL | c.1677T>C (p.Pro559=) c.1686T>C (p.Pro562=) c.*677T>C (n.*677T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133071179T>G | CA467813980 | CEL | c.1677T>G (p.Pro559=) c.1686T>G (p.Pro562=) c.*677T>G (n.*677T>G) | |
| 9 | g.133071179T= | CA1882484102 | CEL | c.1677T= (p.Pro559=) c.1686T= (p.Pro562=) c.*677T= (n.*677T=) | |
| 9 | g.133071181_133071182del | CA2573131667 | CEL | c.1679_1680del (p.Val560AlafsTer16) c.1688_1689del (p.Val563AlafsTer16) c.*679_*680del (n.*679_*680del) | |
| 9 | g.133071179_133071212delinsTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCC | CA1882484100 | CEL | c.1677_1710delinsTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCC (p.Pro559=) c.1686_1719delinsTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCC (p.Pro562=) c.*677_*710delinsTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCC (n.*677_*710delinsTGTGCCCCCCACAGGGGACTCCGAGGCCACTCCC) | |
| 9 | g.133071180G>A | CA5303476 | CEL | c.1678G>A (p.Val560Met) c.1687G>A (p.Val563Met) c.*678G>A (n.*678G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071180G>C | CA375400359 | CEL | c.1678G>C (p.Val560Leu) c.1687G>C (p.Val563Leu) c.*678G>C (n.*678G>C) | dbSNP gnomAD v4 |
| 9 | g.133071180G= | CA1882484104 | CEL | c.1678G= (p.Val560=) c.1687G= (p.Val563=) c.*678G= (n.*678G=) | |
| 9 | g.133071180G>T | CA375400361 | CEL | c.1678G>T (p.Val560Leu) c.1687G>T (p.Val563Leu) c.*678G>T (n.*678G>T) | |
| 9 | g.133071191_133071223dup | CA2692304790 | CEL | c.1689_1721dup (p.Thr574_Gly575insGlyAspSerGluAlaThrProValProProThr) c.1698_1730dup (p.Thr577_Gly578insGlyAspSerGluAlaThrProValProProThr) c.*689_*721dup (n.*689_*721dup) | gnomAD v4 |
| 9 | g.133071191_133071223del | CA5303474 | CEL | c.1689_1721del (p.Gly564_Thr574del) c.1698_1730del (p.Gly567_Thr577del) c.*689_*721del (n.*689_*721del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071181T>A | CA375400375 | CEL | c.1679T>A (p.Val560Glu) c.1688T>A (p.Val563Glu) c.*679T>A (n.*679T>A) | |
| 9 | g.133071181T>C | CA375400378 | CEL | c.1679T>C (p.Val560Ala) c.1688T>C (p.Val563Ala) c.*679T>C (n.*679T>C) | |
| 9 | g.133071181T>G | CA375400373 | CEL | c.1679T>G (p.Val560Gly) c.1688T>G (p.Val563Gly) c.*679T>G (n.*679T>G) | dbSNP gnomAD v4 |
| 9 | g.133071181T= | CA1882484106 | CEL | c.1679T= (p.Val560=) c.1688T= (p.Val563=) c.*679T= (n.*679T=) | |
| 9 | g.133071182del | CA2786158483 | CEL | c.1680del (p.Thr563GlnfsTer?) c.1689del (p.Thr566GlnfsTer?) c.*680del (n.*680del) | |
| 9 | g.133071182G>A | CA5303477 | CEL | c.1680G>A (p.Val560=) c.1689G>A (p.Val563=) c.*680G>A (n.*680G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071182G>C | CA467813982 | CEL | c.1680G>C (p.Val560=) c.1689G>C (p.Val563=) c.*680G>C (n.*680G>C) | |
| 9 | g.133071182G= | CA1882484108 | CEL | c.1680G= (p.Val560=) c.1689G= (p.Val563=) c.*680G= (n.*680G=) | |
| 9 | g.133071182G>T | CA467813983 | CEL | c.1680G>T (p.Val560=) c.1689G>T (p.Val563=) c.*680G>T (n.*680G>T) | |
| 9 | g.133071182_133071183delinsGC | CA1882484109 | CEL | c.1680_1681delinsGC (p.Val560=) c.1689_1690delinsGC (p.Val563=) c.*680_*681delinsGC (n.*680_*681delinsGC) | |
| 9 | g.133071183C>A | CA375400388 | CEL | c.1681C>A (p.Pro561Thr) c.1690C>A (p.Pro564Thr) c.*681C>A (n.*681C>A) | dbSNP gnomAD v4 |
| 9 | g.133071183C= | CA1882484112 | CEL | c.1681C= (p.Pro561=) c.1690C= (p.Pro564=) c.*681C= (n.*681C=) | |
| 9 | g.133071183C>G | CA375400386 | CEL | c.1681C>G (p.Pro561Ala) c.1690C>G (p.Pro564Ala) c.*681C>G (n.*681C>G) | |
| 9 | g.133071183C>T | CA5303478 | CEL | c.1681C>T (p.Pro561Ser) c.1690C>T (p.Pro564Ser) c.*681C>T (n.*681C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071188dup | CA2786158485 | CEL | c.1686dup (p.Thr563HisfsTer14) c.1695dup (p.Thr566HisfsTer14) c.*686dup (n.*686dup) | |
| 9 | g.133071188del | CA1129717584 | CEL | c.1686del (p.Thr563GlnfsTer?) c.1695del (p.Thr566GlnfsTer?) c.*686del (n.*686del) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071184C>A | CA375400393 | CEL | c.1682C>A (p.Pro561His) c.1691C>A (p.Pro564His) c.*682C>A (n.*682C>A) | |
| 9 | g.133071184C= | CA1882484114 | CEL | c.1682C= (p.Pro561=) c.1691C= (p.Pro564=) c.*682C= (n.*682C=) | |
| 9 | g.133071184C>G | CA375400396 | CEL | c.1682C>G (p.Pro561Arg) c.1691C>G (p.Pro564Arg) c.*682C>G (n.*682C>G) | |
| 9 | g.133071184C>T | CA375400397 | CEL | c.1682C>T (p.Pro561Leu) c.1691C>T (p.Pro564Leu) c.*682C>T (n.*682C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071185C>A | CA467813986 | CEL | c.1683C>A (p.Pro561=) c.1692C>A (p.Pro564=) c.*683C>A (n.*683C>A) | |
| 9 | g.133071185C>G | CA467813988 | CEL | c.1683C>G (p.Pro561=) c.1692C>G (p.Pro564=) c.*683C>G (n.*683C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071185C>T | CA467813987 | CEL | c.1683C>T (p.Pro561=) c.1692C>T (p.Pro564=) c.*683C>T (n.*683C>T) | gnomAD v4 |
| 9 | g.133071185_133071251delinsCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG | CA1882484115 | CEL | c.1683_1749delinsCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG (p.Pro561=) c.1692_1758delinsCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG (p.Pro564=) c.*683_*723+26delinsCCCCACAGGGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG | |
| 9 | g.133071186C>A | CA375400399 | CEL | c.1684C>A (p.Pro562Thr) c.1693C>A (p.Pro565Thr) c.*684C>A (n.*684C>A) | |
| 9 | g.133071186C= | CA1882484117 | CEL | c.1684C= (p.Pro562=) c.1693C= (p.Pro565=) c.*684C= (n.*684C=) | |
| 9 | g.133071186C>G | CA375400401 | CEL | c.1684C>G (p.Pro562Ala) c.1693C>G (p.Pro565Ala) c.*684C>G (n.*684C>G) | gnomAD v4 |
| 9 | g.133071186C>T | CA5303479 | CEL | c.1684C>T (p.Pro562Ser) c.1693C>T (p.Pro565Ser) c.*684C>T (n.*684C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071211_133071212insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACAGGGGACTCCGAGGCCACTCC | CA1129717592 | CEL | c.1709_1710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACAGGGGACTCCGAGGCCACTCC (p.Pro570_Val571insValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGluAlaThrPro) c.1718_1719insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACAGGGGACTCCGAGGCCACTCC (p.Pro573_Val574insValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGluAlaThrPro) c.*709_*710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACAGGGGACTCCGAGGCCACTCC (n.*709_*710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACAGGGGACTCCGAGGCCACTCC) | gnomAD v3 gnomAD v4 |
| 9 | g.133071191_133071256del | CA1129717594 | CEL | c.1689_1754del (p.Gly564_Thr585del) c.1698_1763del (p.Gly567_Thr588del) c.*689_*723+31del | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071187C>A | CA375400407 | CEL | c.1685C>A (p.Pro562His) c.1694C>A (p.Pro565His) c.*685C>A (n.*685C>A) | |
| 9 | g.133071187C= | CA1882484120 | CEL | c.1685C= (p.Pro562=) c.1694C= (p.Pro565=) c.*685C= (n.*685C=) | |
| 9 | g.133071187C>G | CA375400410 | CEL | c.1685C>G (p.Pro562Arg) c.1694C>G (p.Pro565Arg) c.*685C>G (n.*685C>G) | |
| 9 | g.133071187C>T | CA5303480 | CEL | c.1685C>T (p.Pro562Leu) c.1694C>T (p.Pro565Leu) c.*685C>T (n.*685C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071188C>A | CA5303482 | CEL | c.1686C>A (p.Pro562=) c.1695C>A (p.Pro565=) c.*686C>A (n.*686C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071188C= | CA1882484122 | CEL | c.1686C= (p.Pro562=) c.1695C= (p.Pro565=) c.*686C= (n.*686C=) | |
| 9 | g.133071188C>G | CA5303481 | CEL | c.1686C>G (p.Pro562=) c.1695C>G (p.Pro565=) c.*686C>G (n.*686C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.133071188C>T | CA467813989 | CEL | c.1686C>T (p.Pro562=) c.1695C>T (p.Pro565=) c.*686C>T (n.*686C>T) | dbSNP |
| 9 | g.133071189A= | CA1882484124 | CEL | c.1687A= (p.Thr563=) c.1696A= (p.Thr566=) c.*687A= (n.*687A=) | |
| 9 | g.133071189A>C | CA375400426 | CEL | c.1687A>C (p.Thr563Pro) c.1696A>C (p.Thr566Pro) c.*687A>C (n.*687A>C) | |
| 9 | g.133071189A>G | CA375400424 | CEL | c.1687A>G (p.Thr563Ala) c.1696A>G (p.Thr566Ala) c.*687A>G (n.*687A>G) | |
| 9 | g.133071189A>T | CA5303483 | CEL | c.1687A>T (p.Thr563Ser) c.1696A>T (p.Thr566Ser) c.*687A>T (n.*687A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071189dup | CA2692304798 | CEL | c.1687dup (p.Thr563AsnfsTer14) c.1696dup (p.Thr566AsnfsTer14) c.*687dup (n.*687dup) | gnomAD v4 |
| 9 | g.133071190C>A | CA375400429 | CEL | c.1688C>A (p.Thr563Lys) c.1697C>A (p.Thr566Lys) c.*688C>A (n.*688C>A) | |
| 9 | g.133071190C= | CA1882484126 | CEL | c.1688C= (p.Thr563=) c.1697C= (p.Thr566=) c.*688C= (n.*688C=) | |
| 9 | g.133071190C>G | CA375400432 | CEL | c.1688C>G (p.Thr563Arg) c.1697C>G (p.Thr566Arg) c.*688C>G (n.*688C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071190C>T | CA375400434 | CEL | c.1688C>T (p.Thr563Ile) c.1697C>T (p.Thr566Ile) c.*688C>T (n.*688C>T) | dbSNP |
| 9 | g.133071191A= | CA1882484128 | CEL | c.1689A= (p.Thr563=) c.1698A= (p.Thr566=) c.*689A= (n.*689A=) | |
| 9 | g.133071191A>C | CA467813996 | CEL | c.1689A>C (p.Thr563=) c.1698A>C (p.Thr566=) c.*689A>C (n.*689A>C) | gnomAD v4 |
| 9 | g.133071191A>G | CA5303484 | CEL | c.1689A>G (p.Thr563=) c.1698A>G (p.Thr566=) c.*689A>G (n.*689A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071191A>T | CA467813995 | CEL | c.1689A>T (p.Thr563=) c.1698A>T (p.Thr566=) c.*689A>T (n.*689A>T) | gnomAD v4 |
| 9 | g.133071192G>A | CA375400439 | CEL | c.1690G>A (p.Gly564Arg) c.1699G>A (p.Gly567Arg) c.*690G>A (n.*690G>A) | COSMIC |
| 9 | g.133071192G>C | CA375400441 | CEL | c.1690G>C (p.Gly564Arg) c.1699G>C (p.Gly567Arg) c.*690G>C (n.*690G>C) | |
| 9 | g.133071192G>T | CA375400444 | CEL | c.1690G>T (p.Gly564Trp) c.1699G>T (p.Gly567Trp) c.*690G>T (n.*690G>T) | gnomAD v4 |
| 9 | g.133071195del | CA2692304799 | CEL | c.1693del (p.Asp565ThrfsTer?) c.1702del (p.Asp568ThrfsTer?) c.*693del (n.*693del) | gnomAD v4 |
| 9 | g.133071193_133071201del | CA2786158486 | CEL | c.1691_1699del (p.Gly564_Ser566del) c.1700_1708del (p.Gly567_Ser569del) c.*691_*699del (n.*691_*699del) | |
| 9 | g.133071193G>A | CA375400449 | CEL | c.1691G>A (p.Gly564Glu) c.1700G>A (p.Gly567Glu) c.*691G>A (n.*691G>A) | gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133071193G>C | CA375400451 | CEL | c.1691G>C (p.Gly564Ala) c.1700G>C (p.Gly567Ala) c.*691G>C (n.*691G>C) | |
| 9 | g.133071193G= | CA1882484130 | CEL | c.1691G= (p.Gly564=) c.1700G= (p.Gly567=) c.*691G= (n.*691G=) | |
| 9 | g.133071193G>T | CA375400455 | CEL | c.1691G>T (p.Gly564Val) c.1700G>T (p.Gly567Val) c.*691G>T (n.*691G>T) | dbSNP |
| 9 | g.133071194G>A | CA467814002 | CEL | c.1692G>A (p.Gly564=) c.1701G>A (p.Gly567=) c.*692G>A (n.*692G>A) | gnomAD v4 |
| 9 | g.133071194G>C | CA467814004 | CEL | c.1692G>C (p.Gly564=) c.1701G>C (p.Gly567=) c.*692G>C (n.*692G>C) | |
| 9 | g.133071194G= | CA1882484132 | CEL | c.1692G= (p.Gly564=) c.1701G= (p.Gly567=) c.*692G= (n.*692G=) | |
| 9 | g.133071194G>T | CA5303485 | CEL | c.1692G>T (p.Gly564=) c.1701G>T (p.Gly567=) c.*692G>T (n.*692G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071194_133071227delinsGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGT | CA1882484133 | CEL | c.1692_1725delinsGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGT (p.Gly564=) c.1701_1734delinsGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGT (p.Gly567=) c.*692_*723+2delinsGGACTCCGAGGCCACTCCCGTGCCCCCCACGGGT | |
| 9 | g.133071195G>A | CA375400465 | CEL | c.1693G>A (p.Asp565Asn) c.1702G>A (p.Asp568Asn) c.*693G>A (n.*693G>A) | gnomAD v4 |
| 9 | g.133071195G>C | CA375400462 | CEL | c.1693G>C (p.Asp565His) c.1702G>C (p.Asp568His) c.*693G>C (n.*693G>C) | |
| 9 | g.133071195G>T | CA375400467 | CEL | c.1693G>T (p.Asp565Tyr) c.1702G>T (p.Asp568Tyr) c.*693G>T (n.*693G>T) | gnomAD v4 |
| 9 | g.133071204_133071236del | CA5303486 | CEL | c.1702_1734del (p.Ala568_Glu578del) c.1711_1743del (p.Ala571_Glu581del) c.*702_*723+11del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071202_133071267del | CA2692304800 | CEL | c.1700_1765del (p.Glu567_Ser588del) c.1709_1774del (p.Glu570_Ser591del) c.*700_*723+42del | gnomAD v4 |
| 9 | g.133071196A>C | CA375400470 | CEL | c.1694A>C (p.Asp565Ala) c.1703A>C (p.Asp568Ala) c.*694A>C (n.*694A>C) | |
| 9 | g.133071196A>G | CA375400472 | CEL | c.1694A>G (p.Asp565Gly) c.1703A>G (p.Asp568Gly) c.*694A>G (n.*694A>G) | gnomAD v4 |
| 9 | g.133071196A>T | CA375400473 | CEL | c.1694A>T (p.Asp565Val) c.1703A>T (p.Asp568Val) c.*694A>T (n.*694A>T) | gnomAD v4 |
| 9 | g.133071204_133071205insGTGGGGGGCACTCCGAGG | CA2692304801 | CEL | c.1702_1703insGTGGGGGGCACTCCGAGG (p.Glu567_Ala568insGlyGlyGlyHisSerGlu) c.1711_1712insGTGGGGGGCACTCCGAGG (p.Glu570_Ala571insGlyGlyGlyHisSerGlu) c.*702_*703insGTGGGGGGCACTCCGAGG (n.*702_*703insGTGGGGGGCACTCCGAGG) | gnomAD v4 |
| 9 | g.133071197C>A | CA375400474 | CEL | c.1695C>A (p.Asp565Glu) c.1704C>A (p.Asp568Glu) c.*695C>A (n.*695C>A) | |
| 9 | g.133071197C= | CA1882484136 | CEL | c.1695C= (p.Asp565=) c.1704C= (p.Asp568=) c.*695C= (n.*695C=) | |
| 9 | g.133071197C>G | CA375400475 | CEL | c.1695C>G (p.Asp565Glu) c.1704C>G (p.Asp568Glu) c.*695C>G (n.*695C>G) | |
| 9 | g.133071197C>T | CA467814009 | CEL | c.1695C>T (p.Asp565=) c.1704C>T (p.Asp568=) c.*695C>T (n.*695C>T) | dbSNP |
| 9 | g.133071198T>A | CA375400477 | CEL | c.1696T>A (p.Ser566Thr) c.1705T>A (p.Ser569Thr) c.*696T>A (n.*696T>A) | |
| 9 | g.133071198T>C | CA375400479 | CEL | c.1696T>C (p.Ser566Pro) c.1705T>C (p.Ser569Pro) c.*696T>C (n.*696T>C) | gnomAD v4 |
| 9 | g.133071198T>G | CA375400481 | CEL | c.1696T>G (p.Ser566Ala) c.1705T>G (p.Ser569Ala) c.*696T>G (n.*696T>G) | |
| 9 | g.133071199C>A | CA375400486 | CEL | c.1697C>A (p.Ser566Tyr) c.1706C>A (p.Ser569Tyr) c.*697C>A (n.*697C>A) | |
| 9 | g.133071199C= | CA1882484138 | CEL | c.1697C= (p.Ser566=) c.1706C= (p.Ser569=) c.*697C= (n.*697C=) | |
| 9 | g.133071199C>G | CA5303487 | CEL | c.1697C>G (p.Ser566Cys) c.1706C>G (p.Ser569Cys) c.*697C>G (n.*697C>G) | dbSNP ExAC |
| 9 | g.133071199C>T | CA375400490 | CEL | c.1697C>T (p.Ser566Phe) c.1706C>T (p.Ser569Phe) c.*697C>T (n.*697C>T) | |
| 9 | g.133071200C>A | CA467814010 | CEL | c.1698C>A (p.Ser566=) c.1707C>A (p.Ser569=) c.*698C>A (n.*698C>A) | |
| 9 | g.133071200C= | CA1882484140 | CEL | c.1698C= (p.Ser566=) c.1707C= (p.Ser569=) c.*698C= (n.*698C=) | |
| 9 | g.133071200C>G | CA467814011 | CEL | c.1698C>G (p.Ser566=) c.1707C>G (p.Ser569=) c.*698C>G (n.*698C>G) | gnomAD v4 |
| 9 | g.133071200C>T | CA5303488 | CEL | c.1698C>T (p.Ser566=) c.1707C>T (p.Ser569=) c.*698C>T (n.*698C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071200_133071201insAAG | CA1129717619 | CEL | c.1698_1699insAAG (p.Ser566_Glu567insLys) c.1707_1708insAAG (p.Ser569_Glu570insLys) c.*698_*699insAAG (n.*698_*699insAAG) | gnomAD v3 gnomAD v4 |
| 9 | g.133071201G>A | CA5303489 | CEL | c.1699G>A (p.Glu567Lys) c.1708G>A (p.Glu570Lys) c.*699G>A (n.*699G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071201G>C | CA375400498 | CEL | c.1699G>C (p.Glu567Gln) c.1708G>C (p.Glu570Gln) c.*699G>C (n.*699G>C) | |
| 9 | g.133071201G= | CA1882484142 | CEL | c.1699G= (p.Glu567=) c.1708G= (p.Glu570=) c.*699G= (n.*699G=) | |
| 9 | g.133071201G>T | CA375400497 | CEL | c.1699G>T (p.Glu567Ter) c.1708G>T (p.Glu570Ter) c.*699G>T (n.*699G>T) | |
| 9 | g.133071201_133071202delinsGA | CA1882484143 | CEL | c.1699_1700delinsGA (p.Glu567=) c.1708_1709delinsGA (p.Glu570=) c.*699_*700delinsGA (n.*699_*700delinsGA) | |
| 9 | g.133071202del | CA591361649 | CEL | c.1700del (p.Glu567GlyfsTer?) c.1709del (p.Glu570GlyfsTer?) c.*700del (n.*700del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071202A= | CA1882484146 | CEL | c.1700A= (p.Glu567=) c.1709A= (p.Glu570=) c.*700A= (n.*700A=) | |
| 9 | g.133071202A>C | CA375400501 | CEL | c.1700A>C (p.Glu567Ala) c.1709A>C (p.Glu570Ala) c.*700A>C (n.*700A>C) | |
| 9 | g.133071202A>G | CA5303490 | CEL | c.1700A>G (p.Glu567Gly) c.1709A>G (p.Glu570Gly) c.*700A>G (n.*700A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 9 | g.133071202A>T | CA375400506 | CEL | c.1700A>T (p.Glu567Val) c.1709A>T (p.Glu570Val) c.*700A>T (n.*700A>T) | |
| 9 | g.133071203G>A | CA467814016 | CEL | c.1701G>A (p.Glu567=) c.1710G>A (p.Glu570=) c.*701G>A (n.*701G>A) | gnomAD v3 gnomAD v4 |
| 9 | g.133071203G>C | CA375400509 | CEL | c.1701G>C (p.Glu567Asp) c.1710G>C (p.Glu570Asp) c.*701G>C (n.*701G>C) | dbSNP gnomAD v4 |
| 9 | g.133071203G= | CA1882484147 | CEL | c.1701G= (p.Glu567=) c.1710G= (p.Glu570=) c.*701G= (n.*701G=) | |
| 9 | g.133071203G>T | CA375400511 | CEL | c.1701G>T (p.Glu567Asp) c.1710G>T (p.Glu570Asp) c.*701G>T (n.*701G>T) | |
| 9 | g.133071204G>A | CA5303491 | CEL | c.1702G>A (p.Ala568Thr) c.1711G>A (p.Ala571Thr) c.*702G>A (n.*702G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071204G>C | CA375400517 | CEL | c.1702G>C (p.Ala568Pro) c.1711G>C (p.Ala571Pro) c.*702G>C (n.*702G>C) | |
| 9 | g.133071204G= | CA1882484152 | CEL | c.1702G= (p.Ala568=) c.1711G= (p.Ala571=) c.*702G= (n.*702G=) | |
| 9 | g.133071204G>T | CA375400518 | CEL | c.1702G>T (p.Ala568Ser) c.1711G>T (p.Ala571Ser) c.*702G>T (n.*702G>T) | |
| 9 | g.133071204_133071205del | CA2786158488 | CEL | c.1702_1703del (p.Ala568HisfsTer8) c.1711_1712del (p.Ala571HisfsTer8) c.*702_*703del (n.*702_*703del) | |
| 9 | g.133071204_133071214delinsGCCACTCCCGT | CA1882484151 | CEL | c.1702_1712delinsGCCACTCCCGT (p.Ala568=) c.1711_1721delinsGCCACTCCCGT (p.Ala571=) c.*702_*712delinsGCCACTCCCGT (n.*702_*712delinsGCCACTCCCGT) | |
| 9 | g.133071204_133071237delinsGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGA | CA1882484149 | CEL | c.1702_1735delinsGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGA (p.Ala568=) c.1711_1744delinsGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGA (p.Ala571=) c.*702_*723+12delinsGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGA | |
| 9 | g.133071205C>A | CA375400522 | CEL | c.1703C>A (p.Ala568Asp) c.1712C>A (p.Ala571Asp) c.*703C>A (n.*703C>A) | |
| 9 | g.133071205C>G | CA375400526 | CEL | c.1703C>G (p.Ala568Gly) c.1712C>G (p.Ala571Gly) c.*703C>G (n.*703C>G) | |
| 9 | g.133071205C>T | CA375400528 | CEL | c.1703C>T (p.Ala568Val) c.1712C>T (p.Ala571Val) c.*703C>T (n.*703C>T) | |
| 9 | g.133071205_133071214del | CA591361651 | CEL | c.1703_1712del (p.Ala568GlyfsTer?) c.1712_1721del (p.Ala571GlyfsTer?) c.*703_*712del (n.*703_*712del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071207_133071239del | CA591361650 | CEL | c.1705_1737del (p.Thr569_Thr579del) c.1714_1746del (p.Thr572_Thr582del) c.*705_*723+14del | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071206C>A | CA467814018 | CEL | c.1704C>A (p.Ala568=) c.1713C>A (p.Ala571=) c.*704C>A (n.*704C>A) | gnomAD v4 |
| 9 | g.133071206C>G | CA467814020 | CEL | c.1704C>G (p.Ala568=) c.1713C>G (p.Ala571=) c.*704C>G (n.*704C>G) | |
| 9 | g.133071206C>T | CA467814019 | CEL | c.1704C>T (p.Ala568=) c.1713C>T (p.Ala571=) c.*704C>T (n.*704C>T) | gnomAD v3 gnomAD v4 |
| 9 | g.133071207del | CA2506201139 | CEL | c.1705del (p.Thr569LeufsTer?) c.1714del (p.Thr572LeufsTer?) c.*705del (n.*705del) | |
| 9 | g.133071207A= | CA1882484156 | CEL | c.1705A= (p.Thr569=) c.1714A= (p.Thr572=) c.*705A= (n.*705A=) | |
| 9 | g.133071207A>C | CA5303493 | CEL | c.1705A>C (p.Thr569Pro) c.1714A>C (p.Thr572Pro) c.*705A>C (n.*705A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071207A>G | CA5303492 | CEL | c.1705A>G (p.Thr569Ala) c.1714A>G (p.Thr572Ala) c.*705A>G (n.*705A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071207A>T | CA375400533 | CEL | c.1705A>T (p.Thr569Ser) c.1714A>T (p.Thr572Ser) c.*705A>T (n.*705A>T) | gnomAD v4 |
| 9 | g.133071208C>A | CA375400542 | CEL | c.1706C>A (p.Thr569Asn) c.1715C>A (p.Thr572Asn) c.*706C>A (n.*706C>A) | dbSNP |
| 9 | g.133071208C= | CA1882484158 | CEL | c.1706C= (p.Thr569=) c.1715C= (p.Thr572=) c.*706C= (n.*706C=) | |
| 9 | g.133071208C>G | CA375400538 | CEL | c.1706C>G (p.Thr569Ser) c.1715C>G (p.Thr572Ser) c.*706C>G (n.*706C>G) | |
| 9 | g.133071208C>T | CA375400540 | CEL | c.1706C>T (p.Thr569Ile) c.1715C>T (p.Thr572Ile) c.*706C>T (n.*706C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133071209_133071241del | CA1129717639 | CEL | c.1707_1739del (p.Pro570_Ala580del) c.1716_1748del (p.Pro573_Ala583del) c.*707_*723+16del | gnomAD v3 gnomAD v4 |
| 9 | g.133071209T>A | CA467814026 | CEL | c.1707T>A (p.Thr569=) c.1716T>A (p.Thr572=) c.*707T>A (n.*707T>A) | gnomAD v4 |
| 9 | g.133071209T>C | CA5303494 | CEL | c.1707T>C (p.Thr569=) c.1716T>C (p.Thr572=) c.*707T>C (n.*707T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071209T>G | CA467814027 | CEL | c.1707T>G (p.Thr569=) c.1716T>G (p.Thr572=) c.*707T>G (n.*707T>G) | |
| 9 | g.133071209T= | CA1882484160 | CEL | c.1707T= (p.Thr569=) c.1716T= (p.Thr572=) c.*707T= (n.*707T=) | |
| 9 | g.133071209_133071240del | CA2523612076 | CEL | c.1707_1738del (p.Val571ArgfsTer6) c.1716_1747del (p.Val574ArgfsTer6) c.*707_*723+15del | |
| 9 | g.133071210C>A | CA375400544 | CEL | c.1708C>A (p.Pro570Thr) c.1717C>A (p.Pro573Thr) c.*708C>A (n.*708C>A) | |
| 9 | g.133071210C>G | CA375400545 | CEL | c.1708C>G (p.Pro570Ala) c.1717C>G (p.Pro573Ala) c.*708C>G (n.*708C>G) | |
| 9 | g.133071210C>T | CA375400546 | CEL | c.1708C>T (p.Pro570Ser) c.1717C>T (p.Pro573Ser) c.*708C>T (n.*708C>T) | gnomAD v4 |
| 9 | g.133071211_133071212insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCC | CA591361653 | CEL | c.1709_1710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCC (p.Pro570_Val571insValProProThrGlyAspSerGluThrAlaPro) c.1718_1719insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCC (p.Pro573_Val574insValProProThrGlyAspSerGluThrAlaPro) c.*709_*710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCC (n.*709_*710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCC) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.133071211_133071212insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC | CA2692304817 | CEL | c.1709_1710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC (p.Pro570_Val571insValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProPro) c.1718_1719insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC (p.Pro573_Val574insValProProThrGlyAspSerGluThrAlaProValProProThrGlyAspSerGlyAlaProPro) c.*709_*710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC (n.*709_*710insTGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCC) | gnomAD v4 |
| 9 | g.133071218_133071250del | CA591361652 | CEL | c.1716_1748del (p.Pro573_Pro583del) c.1725_1757del (p.Pro576_Pro586del) c.*716_*723+25del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.133071211C>A | CA375400549 | CEL | c.1709C>A (p.Pro570His) c.1718C>A (p.Pro573His) c.*709C>A (n.*709C>A) | gnomAD v4 |
| 9 | g.133071211C= | CA1882484163 | CEL | c.1709C= (p.Pro570=) c.1718C= (p.Pro573=) c.*709C= (n.*709C=) | |
| 9 | g.133071211C>G | CA375400551 | CEL | c.1709C>G (p.Pro570Arg) c.1718C>G (p.Pro573Arg) c.*709C>G (n.*709C>G) | |
| 9 | g.133071211C>T | CA375400553 | CEL | c.1709C>T (p.Pro570Leu) c.1718C>T (p.Pro573Leu) c.*709C>T (n.*709C>T) | |
| 9 | g.133071211_133071212insTGTG | CA1129717649 | CEL | c.1709_1710insTGTG (p.Pro572ArgfsTer6) c.1718_1719insTGTG (p.Pro575ArgfsTer6) c.*709_*710insTGTG (n.*709_*710insTGTG) | dbSNP gnomAD v4 |
| 9 | g.133071212C>A | CA467814029 | CEL | c.1710C>A (p.Pro570=) c.1719C>A (p.Pro573=) c.*710C>A (n.*710C>A) | dbSNP |
| 9 | g.133071212C= | CA1630848045 | CEL | c.1710C= (p.Pro570=) c.1719C= (p.Pro573=) c.*710C= (n.*710C=) | |
| 9 | g.133071212C>G | CA467814028 | CEL | c.1710C>G (p.Pro570=) c.1719C>G (p.Pro573=) c.*710C>G (n.*710C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133071212C>T | CA152286 | CEL | c.1710C>T (p.Pro570=) c.1719C>T (p.Pro573=) c.*710C>T (n.*710C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |