UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.156901402T>A | CA452935859 | ARID1B | c.2013T>A (p.Gly671=) c.27T>A (p.Gly9=) c.2052T>A (p.Gly684=) c.1764T>A (p.Gly588=) c.261T>A (p.Gly87=) n.76T>A c.294T>A (p.Gly98=) c.39T>A (p.Gly13=) c.230T>A c.1803T>A (p.Gly601=) n.720T>A c.1753T>A c.30T>A (p.Gly10=) c.672T>A (p.Gly224=) c.252T>A (p.Gly84=) n.1886T>A | |
| 6 | g.156901402T>C | CA452935861 | ARID1B | c.2013T>C (p.Gly671=) c.27T>C (p.Gly9=) c.2052T>C (p.Gly684=) c.1764T>C (p.Gly588=) c.261T>C (p.Gly87=) n.76T>C c.294T>C (p.Gly98=) c.39T>C (p.Gly13=) c.230T>C c.1803T>C (p.Gly601=) n.720T>C c.1753T>C c.30T>C (p.Gly10=) c.672T>C (p.Gly224=) c.252T>C (p.Gly84=) n.1886T>C | gnomAD v4 |
| 6 | g.156901402T>G | CA452935860 | ARID1B | c.2013T>G (p.Gly671=) c.27T>G (p.Gly9=) c.2052T>G (p.Gly684=) c.1764T>G (p.Gly588=) c.261T>G (p.Gly87=) n.76T>G c.294T>G (p.Gly98=) c.39T>G (p.Gly13=) c.230T>G c.1803T>G (p.Gly601=) n.720T>G c.1753T>G c.30T>G (p.Gly10=) c.672T>G (p.Gly224=) c.252T>G (p.Gly84=) n.1886T>G | |
| 6 | g.156901403G>A | CA366380655 | ARID1B | c.2014G>A (p.Val672Met) c.28G>A (p.Val10Met) c.2053G>A (p.Val685Met) c.1765G>A (p.Val589Met) c.262G>A (p.Val88Met) n.77G>A c.295G>A (p.Val99Met) c.40G>A (p.Val14Met) c.231G>A c.1804G>A (p.Val602Met) n.721G>A c.1754G>A c.31G>A (p.Val11Met) c.673G>A (p.Val225Met) c.253G>A (p.Val85Met) n.1887G>A | dbSNP gnomAD v4 COSMIC COSMIC |
| 6 | g.156901403G>C | CA366380656 | ARID1B | c.2014G>C (p.Val672Leu) c.28G>C (p.Val10Leu) c.2053G>C (p.Val685Leu) c.1765G>C (p.Val589Leu) c.262G>C (p.Val88Leu) n.77G>C c.295G>C (p.Val99Leu) c.40G>C (p.Val14Leu) c.231G>C c.1804G>C (p.Val602Leu) n.721G>C c.1754G>C c.31G>C (p.Val11Leu) c.673G>C (p.Val225Leu) c.253G>C (p.Val85Leu) n.1887G>C | |
| 6 | g.156901403G>T | CA366380657 | ARID1B | c.2014G>T (p.Val672Leu) c.28G>T (p.Val10Leu) c.2053G>T (p.Val685Leu) c.1765G>T (p.Val589Leu) c.262G>T (p.Val88Leu) n.77G>T c.295G>T (p.Val99Leu) c.40G>T (p.Val14Leu) c.231G>T c.1804G>T (p.Val602Leu) n.721G>T c.1754G>T c.31G>T (p.Val11Leu) c.673G>T (p.Val225Leu) c.253G>T (p.Val85Leu) n.1887G>T | |
| 6 | g.156901404T>A | CA366380658 | ARID1B | c.2015T>A (p.Val672Glu) c.29T>A (p.Val10Glu) c.2054T>A (p.Val685Glu) c.1766T>A (p.Val589Glu) c.263T>A (p.Val88Glu) n.78T>A c.296T>A (p.Val99Glu) c.41T>A (p.Val14Glu) c.232T>A c.1805T>A (p.Val602Glu) n.722T>A c.1755T>A c.32T>A (p.Val11Glu) c.674T>A (p.Val225Glu) c.254T>A (p.Val85Glu) n.1888T>A | |
| 6 | g.156901404T>C | CA366380659 | ARID1B | c.2015T>C (p.Val672Ala) c.29T>C (p.Val10Ala) c.2054T>C (p.Val685Ala) c.1766T>C (p.Val589Ala) c.263T>C (p.Val88Ala) n.78T>C c.296T>C (p.Val99Ala) c.41T>C (p.Val14Ala) c.232T>C c.1805T>C (p.Val602Ala) n.722T>C c.1755T>C c.32T>C (p.Val11Ala) c.674T>C (p.Val225Ala) c.254T>C (p.Val85Ala) n.1888T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.156901404T>G | CA366380660 | ARID1B | c.2015T>G (p.Val672Gly) c.29T>G (p.Val10Gly) c.2054T>G (p.Val685Gly) c.1766T>G (p.Val589Gly) c.263T>G (p.Val88Gly) n.78T>G c.296T>G (p.Val99Gly) c.41T>G (p.Val14Gly) c.232T>G c.1805T>G (p.Val602Gly) n.722T>G c.1755T>G c.32T>G (p.Val11Gly) c.674T>G (p.Val225Gly) c.254T>G (p.Val85Gly) n.1888T>G | |
| 6 | g.156901404T= | CA1675400753 | ARID1B | c.2015T= (p.Val672=) c.29T= (p.Val10=) c.2054T= (p.Val685=) c.1766T= (p.Val589=) c.263T= (p.Val88=) n.78T= c.296T= (p.Val99=) c.41T= (p.Val14=) c.232T= c.1805T= (p.Val602=) n.722T= c.1755T= c.32T= (p.Val11=) c.674T= (p.Val225=) c.254T= (p.Val85=) n.1888T= | |
| 6 | g.156901405G>A | CA4066908 | ARID1B | c.2016G>A (p.Val672=) c.30G>A (p.Val10=) c.2055G>A (p.Val685=) c.1767G>A (p.Val589=) c.264G>A (p.Val88=) n.79G>A c.297G>A (p.Val99=) c.42G>A (p.Val14=) c.233G>A c.1806G>A (p.Val602=) n.723G>A c.1756G>A c.33G>A (p.Val11=) c.675G>A (p.Val225=) c.255G>A (p.Val85=) n.1889G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.156901405G>C | CA452935862 | ARID1B | c.2016G>C (p.Val672=) c.30G>C (p.Val10=) c.2055G>C (p.Val685=) c.1767G>C (p.Val589=) c.264G>C (p.Val88=) n.79G>C c.297G>C (p.Val99=) c.42G>C (p.Val14=) c.233G>C c.1806G>C (p.Val602=) n.723G>C c.1756G>C c.33G>C (p.Val11=) c.675G>C (p.Val225=) c.255G>C (p.Val85=) n.1889G>C | |
| 6 | g.156901405G= | CA1675400754 | ARID1B | c.2016G= (p.Val672=) c.30G= (p.Val10=) c.2055G= (p.Val685=) c.1767G= (p.Val589=) c.264G= (p.Val88=) n.79G= c.297G= (p.Val99=) c.42G= (p.Val14=) c.233G= c.1806G= (p.Val602=) n.723G= c.1756G= c.33G= (p.Val11=) c.675G= (p.Val225=) c.255G= (p.Val85=) n.1889G= | |
| 6 | g.156901405G>T | CA452935863 | ARID1B | c.2016G>T (p.Val672=) c.30G>T (p.Val10=) c.2055G>T (p.Val685=) c.1767G>T (p.Val589=) c.264G>T (p.Val88=) n.79G>T c.297G>T (p.Val99=) c.42G>T (p.Val14=) c.233G>T c.1806G>T (p.Val602=) n.723G>T c.1756G>T c.33G>T (p.Val11=) c.675G>T (p.Val225=) c.255G>T (p.Val85=) n.1889G>T | ClinVar |
| 6 | g.156901406A>C | CA366380661 | ARID1B | c.2017A>C (p.Ser673Arg) c.31A>C (p.Ser11Arg) c.2056A>C (p.Ser686Arg) c.1768A>C (p.Ser590Arg) c.265A>C (p.Ser89Arg) n.80A>C c.298A>C (p.Ser100Arg) c.43A>C (p.Ser15Arg) c.234A>C c.1807A>C (p.Ser603Arg) n.724A>C c.1757A>C c.34A>C (p.Ser12Arg) c.676A>C (p.Ser226Arg) c.256A>C (p.Ser86Arg) n.1890A>C | |
| 6 | g.156901406A>G | CA366380662 | ARID1B | c.2017A>G (p.Ser673Gly) c.31A>G (p.Ser11Gly) c.2056A>G (p.Ser686Gly) c.1768A>G (p.Ser590Gly) c.265A>G (p.Ser89Gly) n.80A>G c.298A>G (p.Ser100Gly) c.43A>G (p.Ser15Gly) c.234A>G c.1807A>G (p.Ser603Gly) n.724A>G c.1757A>G c.34A>G (p.Ser12Gly) c.676A>G (p.Ser226Gly) c.256A>G (p.Ser86Gly) n.1890A>G | |
| 6 | g.156901406A>T | CA366380663 | ARID1B | c.2017A>T (p.Ser673Cys) c.31A>T (p.Ser11Cys) c.2056A>T (p.Ser686Cys) c.1768A>T (p.Ser590Cys) c.265A>T (p.Ser89Cys) n.80A>T c.298A>T (p.Ser100Cys) c.43A>T (p.Ser15Cys) c.234A>T c.1807A>T (p.Ser603Cys) n.724A>T c.1757A>T c.34A>T (p.Ser12Cys) c.676A>T (p.Ser226Cys) c.256A>T (p.Ser86Cys) n.1890A>T | |
| 6 | g.156901407G>A | CA366380664 | ARID1B | c.2018G>A (p.Ser673Asn) c.32G>A (p.Ser11Asn) c.2057G>A (p.Ser686Asn) c.1769G>A (p.Ser590Asn) c.266G>A (p.Ser89Asn) n.81G>A c.299G>A (p.Ser100Asn) c.44G>A (p.Ser15Asn) c.235G>A c.1808G>A (p.Ser603Asn) n.725G>A c.1758G>A c.35G>A (p.Ser12Asn) c.677G>A (p.Ser226Asn) c.257G>A (p.Ser86Asn) n.1891G>A | dbSNP |
| 6 | g.156901407G>C | CA366380665 | ARID1B | c.2018G>C (p.Ser673Thr) c.32G>C (p.Ser11Thr) c.2057G>C (p.Ser686Thr) c.1769G>C (p.Ser590Thr) c.266G>C (p.Ser89Thr) n.81G>C c.299G>C (p.Ser100Thr) c.44G>C (p.Ser15Thr) c.235G>C c.1808G>C (p.Ser603Thr) n.725G>C c.1758G>C c.35G>C (p.Ser12Thr) c.677G>C (p.Ser226Thr) c.257G>C (p.Ser86Thr) n.1891G>C | |
| 6 | g.156901407G>T | CA366380666 | ARID1B | c.2018G>T (p.Ser673Ile) c.32G>T (p.Ser11Ile) c.2057G>T (p.Ser686Ile) c.1769G>T (p.Ser590Ile) c.266G>T (p.Ser89Ile) n.81G>T c.299G>T (p.Ser100Ile) c.44G>T (p.Ser15Ile) c.235G>T c.1808G>T (p.Ser603Ile) n.725G>T c.1758G>T c.35G>T (p.Ser12Ile) c.677G>T (p.Ser226Ile) c.257G>T (p.Ser86Ile) n.1891G>T | |
| 6 | g.156901407dup | CA915940434 | ARID1B | c.2018dup (p.Ser673ArgfsTer?) c.32dup (p.Ser11ArgfsTer?) c.2057dup (p.Ser686ArgfsTer?) c.1769dup (p.Ser590ArgfsTer?) c.266dup (p.Ser89ArgfsTer?) n.81dup c.299dup (p.Ser100ArgfsTer?) c.44dup (p.Ser15ArgfsTer?) c.235dup c.1808dup (p.Ser603ArgfsTer?) n.725dup c.1758dup c.35dup (p.Ser12ArgfsTer?) c.677dup (p.Ser226ArgfsTer?) c.257dup (p.Ser86ArgfsTer?) n.1891dup | |
| 6 | g.156901408T>A | CA366380667 | ARID1B | c.2019T>A (p.Ser673Arg) c.33T>A (p.Ser11Arg) c.2058T>A (p.Ser686Arg) c.1770T>A (p.Ser590Arg) c.267T>A (p.Ser89Arg) n.82T>A c.300T>A (p.Ser100Arg) c.45T>A (p.Ser15Arg) c.236T>A c.1809T>A (p.Ser603Arg) n.726T>A c.1759T>A c.36T>A (p.Ser12Arg) c.678T>A (p.Ser226Arg) c.258T>A (p.Ser86Arg) n.1892T>A | |
| 6 | g.156901408T>C | CA452935864 | ARID1B | c.2019T>C (p.Ser673=) c.33T>C (p.Ser11=) c.2058T>C (p.Ser686=) c.1770T>C (p.Ser590=) c.267T>C (p.Ser89=) n.82T>C c.300T>C (p.Ser100=) c.45T>C (p.Ser15=) c.236T>C c.1809T>C (p.Ser603=) n.726T>C c.1759T>C c.36T>C (p.Ser12=) c.678T>C (p.Ser226=) c.258T>C (p.Ser86=) n.1892T>C | gnomAD v4 |
| 6 | g.156901408T>G | CA366380668 | ARID1B | c.2019T>G (p.Ser673Arg) c.33T>G (p.Ser11Arg) c.2058T>G (p.Ser686Arg) c.1770T>G (p.Ser590Arg) c.267T>G (p.Ser89Arg) n.82T>G c.300T>G (p.Ser100Arg) c.45T>G (p.Ser15Arg) c.236T>G c.1809T>G (p.Ser603Arg) n.726T>G c.1759T>G c.36T>G (p.Ser12Arg) c.678T>G (p.Ser226Arg) c.258T>G (p.Ser86Arg) n.1892T>G | |
| 6 | g.156901409G>A | CA366380669 | ARID1B | c.2020G>A (p.Gly674Ser) c.34G>A (p.Gly12Ser) c.2059G>A (p.Gly687Ser) c.1771G>A (p.Gly591Ser) c.268G>A (p.Gly90Ser) n.83G>A c.301G>A (p.Gly101Ser) c.46G>A (p.Gly16Ser) c.237G>A c.1810G>A (p.Gly604Ser) n.727G>A c.1760G>A c.37G>A (p.Gly13Ser) c.679G>A (p.Gly227Ser) c.259G>A (p.Gly87Ser) n.1893G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.156901409G>C | CA366380670 | ARID1B | c.2020G>C (p.Gly674Arg) c.34G>C (p.Gly12Arg) c.2059G>C (p.Gly687Arg) c.1771G>C (p.Gly591Arg) c.268G>C (p.Gly90Arg) n.83G>C c.301G>C (p.Gly101Arg) c.46G>C (p.Gly16Arg) c.237G>C c.1810G>C (p.Gly604Arg) n.727G>C c.1760G>C c.37G>C (p.Gly13Arg) c.679G>C (p.Gly227Arg) c.259G>C (p.Gly87Arg) n.1893G>C | |
| 6 | g.156901409G= | CA1675400755 | ARID1B | c.2020G= (p.Gly674=) c.34G= (p.Gly12=) c.2059G= (p.Gly687=) c.1771G= (p.Gly591=) c.268G= (p.Gly90=) n.83G= c.301G= (p.Gly101=) c.46G= (p.Gly16=) c.237G= c.1810G= (p.Gly604=) n.727G= c.1760G= c.37G= (p.Gly13=) c.679G= (p.Gly227=) c.259G= (p.Gly87=) n.1893G= | |
| 6 | g.156901409G>T | CA366380671 | ARID1B | c.2020G>T (p.Gly674Cys) c.34G>T (p.Gly12Cys) c.2059G>T (p.Gly687Cys) c.1771G>T (p.Gly591Cys) c.268G>T (p.Gly90Cys) n.83G>T c.301G>T (p.Gly101Cys) c.46G>T (p.Gly16Cys) c.237G>T c.1810G>T (p.Gly604Cys) n.727G>T c.1760G>T c.37G>T (p.Gly13Cys) c.679G>T (p.Gly227Cys) c.259G>T (p.Gly87Cys) n.1893G>T | |
| 6 | g.156901410G>A | CA366380672 | ARID1B | c.2021G>A (p.Gly674Asp) c.35G>A (p.Gly12Asp) c.2060G>A (p.Gly687Asp) c.1772G>A (p.Gly591Asp) c.269G>A (p.Gly90Asp) n.84G>A c.302G>A (p.Gly101Asp) c.47G>A (p.Gly16Asp) c.238G>A c.1811G>A (p.Gly604Asp) n.728G>A c.1761G>A c.38G>A (p.Gly13Asp) c.680G>A (p.Gly227Asp) c.260G>A (p.Gly87Asp) n.1894G>A | |
| 6 | g.156901410G>C | CA366380673 | ARID1B | c.2021G>C (p.Gly674Ala) c.35G>C (p.Gly12Ala) c.2060G>C (p.Gly687Ala) c.1772G>C (p.Gly591Ala) c.269G>C (p.Gly90Ala) n.84G>C c.302G>C (p.Gly101Ala) c.47G>C (p.Gly16Ala) c.238G>C c.1811G>C (p.Gly604Ala) n.728G>C c.1761G>C c.38G>C (p.Gly13Ala) c.680G>C (p.Gly227Ala) c.260G>C (p.Gly87Ala) n.1894G>C | |
| 6 | g.156901410G>T | CA366380674 | ARID1B | c.2021G>T (p.Gly674Val) c.35G>T (p.Gly12Val) c.2060G>T (p.Gly687Val) c.1772G>T (p.Gly591Val) c.269G>T (p.Gly90Val) n.84G>T c.302G>T (p.Gly101Val) c.47G>T (p.Gly16Val) c.238G>T c.1811G>T (p.Gly604Val) n.728G>T c.1761G>T c.38G>T (p.Gly13Val) c.680G>T (p.Gly227Val) c.260G>T (p.Gly87Val) n.1894G>T | |
| 6 | g.156901411T>A | CA452935866 | ARID1B | c.2022T>A (p.Gly674=) c.36T>A (p.Gly12=) c.2061T>A (p.Gly687=) c.1773T>A (p.Gly591=) c.270T>A (p.Gly90=) n.85T>A c.303T>A (p.Gly101=) c.48T>A (p.Gly16=) c.239T>A c.1812T>A (p.Gly604=) n.729T>A c.1762T>A c.39T>A (p.Gly13=) c.681T>A (p.Gly227=) c.261T>A (p.Gly87=) n.1895T>A | |
| 6 | g.156901411T>C | CA150816956 | ARID1B | c.2022T>C (p.Gly674=) c.36T>C (p.Gly12=) c.2061T>C (p.Gly687=) c.1773T>C (p.Gly591=) c.270T>C (p.Gly90=) n.85T>C c.303T>C (p.Gly101=) c.48T>C (p.Gly16=) c.239T>C c.1812T>C (p.Gly604=) n.729T>C c.1762T>C c.39T>C (p.Gly13=) c.681T>C (p.Gly227=) c.261T>C (p.Gly87=) n.1895T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.156901411T>G | CA452935865 | ARID1B | c.2022T>G (p.Gly674=) c.36T>G (p.Gly12=) c.2061T>G (p.Gly687=) c.1773T>G (p.Gly591=) c.270T>G (p.Gly90=) n.85T>G c.303T>G (p.Gly101=) c.48T>G (p.Gly16=) c.239T>G c.1812T>G (p.Gly604=) n.729T>G c.1762T>G c.39T>G (p.Gly13=) c.681T>G (p.Gly227=) c.261T>G (p.Gly87=) n.1895T>G | |
| 6 | g.156901411T= | CA1675400756 | ARID1B | c.2022T= (p.Gly674=) c.36T= (p.Gly12=) c.2061T= (p.Gly687=) c.1773T= (p.Gly591=) c.270T= (p.Gly90=) n.85T= c.303T= (p.Gly101=) c.48T= (p.Gly16=) c.239T= c.1812T= (p.Gly604=) n.729T= c.1762T= c.39T= (p.Gly13=) c.681T= (p.Gly227=) c.261T= (p.Gly87=) n.1895T= | |
| 6 | g.156901412T>A | CA366380675 | ARID1B | c.2023T>A (p.Tyr675Asn) c.37T>A (p.Tyr13Asn) c.2062T>A (p.Tyr688Asn) c.1774T>A (p.Tyr592Asn) c.271T>A (p.Tyr91Asn) n.86T>A c.304T>A (p.Tyr102Asn) c.49T>A (p.Tyr17Asn) c.240T>A c.1813T>A (p.Tyr605Asn) n.730T>A c.1763T>A c.40T>A (p.Tyr14Asn) c.682T>A (p.Tyr228Asn) c.262T>A (p.Tyr88Asn) n.1896T>A | |
| 6 | g.156901412T>C | CA366380676 | ARID1B | c.2023T>C (p.Tyr675His) c.37T>C (p.Tyr13His) c.2062T>C (p.Tyr688His) c.1774T>C (p.Tyr592His) c.271T>C (p.Tyr91His) n.86T>C c.304T>C (p.Tyr102His) c.49T>C (p.Tyr17His) c.240T>C c.1813T>C (p.Tyr605His) n.730T>C c.1763T>C c.40T>C (p.Tyr14His) c.682T>C (p.Tyr228His) c.262T>C (p.Tyr88His) n.1896T>C | |
| 6 | g.156901412T>G | CA366380677 | ARID1B | c.2023T>G (p.Tyr675Asp) c.37T>G (p.Tyr13Asp) c.2062T>G (p.Tyr688Asp) c.1774T>G (p.Tyr592Asp) c.271T>G (p.Tyr91Asp) n.86T>G c.304T>G (p.Tyr102Asp) c.49T>G (p.Tyr17Asp) c.240T>G c.1813T>G (p.Tyr605Asp) n.730T>G c.1763T>G c.40T>G (p.Tyr14Asp) c.682T>G (p.Tyr228Asp) c.262T>G (p.Tyr88Asp) n.1896T>G | |
| 6 | g.156901413A>C | CA366380678 | ARID1B | c.2024A>C (p.Tyr675Ser) c.38A>C (p.Tyr13Ser) c.2063A>C (p.Tyr688Ser) c.1775A>C (p.Tyr592Ser) c.272A>C (p.Tyr91Ser) n.87A>C c.305A>C (p.Tyr102Ser) c.50A>C (p.Tyr17Ser) c.241A>C c.1814A>C (p.Tyr605Ser) n.731A>C c.1764A>C c.41A>C (p.Tyr14Ser) c.683A>C (p.Tyr228Ser) c.263A>C (p.Tyr88Ser) n.1897A>C | |
| 6 | g.156901413A>G | CA366380679 | ARID1B | c.2024A>G (p.Tyr675Cys) c.38A>G (p.Tyr13Cys) c.2063A>G (p.Tyr688Cys) c.1775A>G (p.Tyr592Cys) c.272A>G (p.Tyr91Cys) n.87A>G c.305A>G (p.Tyr102Cys) c.50A>G (p.Tyr17Cys) c.241A>G c.1814A>G (p.Tyr605Cys) n.731A>G c.1764A>G c.41A>G (p.Tyr14Cys) c.683A>G (p.Tyr228Cys) c.263A>G (p.Tyr88Cys) n.1897A>G | |
| 6 | g.156901413A>T | CA366380680 | ARID1B | c.2024A>T (p.Tyr675Phe) c.38A>T (p.Tyr13Phe) c.2063A>T (p.Tyr688Phe) c.1775A>T (p.Tyr592Phe) c.272A>T (p.Tyr91Phe) n.87A>T c.305A>T (p.Tyr102Phe) c.50A>T (p.Tyr17Phe) c.241A>T c.1814A>T (p.Tyr605Phe) n.731A>T c.1764A>T c.41A>T (p.Tyr14Phe) c.683A>T (p.Tyr228Phe) c.263A>T (p.Tyr88Phe) n.1897A>T | |
| 6 | g.156901414C>A | CA366380681 | ARID1B | c.2025C>A (p.Tyr675Ter) c.39C>A (p.Tyr13Ter) c.2064C>A (p.Tyr688Ter) c.1776C>A (p.Tyr592Ter) c.273C>A (p.Tyr91Ter) n.88C>A c.306C>A (p.Tyr102Ter) c.51C>A (p.Tyr17Ter) c.242C>A c.1815C>A (p.Tyr605Ter) n.732C>A c.1765C>A c.42C>A (p.Tyr14Ter) c.684C>A (p.Tyr228Ter) c.264C>A (p.Tyr88Ter) n.1898C>A | |
| 6 | g.156901414C= | CA1675400757 | ARID1B | c.2025C= (p.Tyr675=) c.39C= (p.Tyr13=) c.2064C= (p.Tyr688=) c.1776C= (p.Tyr592=) c.273C= (p.Tyr91=) n.88C= c.306C= (p.Tyr102=) c.51C= (p.Tyr17=) c.242C= c.1815C= (p.Tyr605=) n.732C= c.1765C= c.42C= (p.Tyr14=) c.684C= (p.Tyr228=) c.264C= (p.Tyr88=) n.1898C= | |
| 6 | g.156901414C>G | CA366380682 | ARID1B | c.2025C>G (p.Tyr675Ter) c.39C>G (p.Tyr13Ter) c.2064C>G (p.Tyr688Ter) c.1776C>G (p.Tyr592Ter) c.273C>G (p.Tyr91Ter) n.88C>G c.306C>G (p.Tyr102Ter) c.51C>G (p.Tyr17Ter) c.242C>G c.1815C>G (p.Tyr605Ter) n.732C>G c.1765C>G c.42C>G (p.Tyr14Ter) c.684C>G (p.Tyr228Ter) c.264C>G (p.Tyr88Ter) n.1898C>G | ClinVar dbSNP |
| 6 | g.156901414C>T | CA4066909 | ARID1B | c.2025C>T (p.Tyr675=) c.39C>T (p.Tyr13=) c.2064C>T (p.Tyr688=) c.1776C>T (p.Tyr592=) c.273C>T (p.Tyr91=) n.88C>T c.306C>T (p.Tyr102=) c.51C>T (p.Tyr17=) c.242C>T c.1815C>T (p.Tyr605=) n.732C>T c.1765C>T c.42C>T (p.Tyr14=) c.684C>T (p.Tyr228=) c.264C>T (p.Tyr88=) n.1898C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.156901415T>A | CA366380683 | ARID1B | c.2026T>A (p.Cys676Ser) c.40T>A (p.Cys14Ser) c.2065T>A (p.Cys689Ser) c.1777T>A (p.Cys593Ser) c.274T>A (p.Cys92Ser) n.89T>A c.307T>A (p.Cys103Ser) c.52T>A (p.Cys18Ser) c.243T>A c.1816T>A (p.Cys606Ser) n.733T>A c.1766T>A c.43T>A (p.Cys15Ser) c.685T>A (p.Cys229Ser) c.265T>A (p.Cys89Ser) n.1899T>A | |
| 6 | g.156901415T>C | CA366380684 | ARID1B | c.2026T>C (p.Cys676Arg) c.40T>C (p.Cys14Arg) c.2065T>C (p.Cys689Arg) c.1777T>C (p.Cys593Arg) c.274T>C (p.Cys92Arg) n.89T>C c.307T>C (p.Cys103Arg) c.52T>C (p.Cys18Arg) c.243T>C c.1816T>C (p.Cys606Arg) n.733T>C c.1766T>C c.43T>C (p.Cys15Arg) c.685T>C (p.Cys229Arg) c.265T>C (p.Cys89Arg) n.1899T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.156901415T>G | CA366380685 | ARID1B | c.2026T>G (p.Cys676Gly) c.40T>G (p.Cys14Gly) c.2065T>G (p.Cys689Gly) c.1777T>G (p.Cys593Gly) c.274T>G (p.Cys92Gly) n.89T>G c.307T>G (p.Cys103Gly) c.52T>G (p.Cys18Gly) c.243T>G c.1816T>G (p.Cys606Gly) n.733T>G c.1766T>G c.43T>G (p.Cys15Gly) c.685T>G (p.Cys229Gly) c.265T>G (p.Cys89Gly) n.1899T>G | |
| 6 | g.156901415T= | CA1675400758 | ARID1B | c.2026T= (p.Cys676=) c.40T= (p.Cys14=) c.2065T= (p.Cys689=) c.1777T= (p.Cys593=) c.274T= (p.Cys92=) n.89T= c.307T= (p.Cys103=) c.52T= (p.Cys18=) c.243T= c.1816T= (p.Cys606=) n.733T= c.1766T= c.43T= (p.Cys15=) c.685T= (p.Cys229=) c.265T= (p.Cys89=) n.1899T= | |
| 6 | g.156901416G>A | CA366380686 | ARID1B | c.2027G>A (p.Cys676Tyr) c.41G>A (p.Cys14Tyr) c.2066G>A (p.Cys689Tyr) c.1778G>A (p.Cys593Tyr) c.275G>A (p.Cys92Tyr) n.90G>A c.308G>A (p.Cys103Tyr) c.53G>A (p.Cys18Tyr) c.244G>A c.1817G>A (p.Cys606Tyr) n.734G>A c.1767G>A c.44G>A (p.Cys15Tyr) c.686G>A (p.Cys229Tyr) c.266G>A (p.Cys89Tyr) n.1900G>A | dbSNP |