Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.70741007T>A | CA377106208 | ADAMTS14 | c.1769T>A (p.Leu590Gln) c.1778T>A (p.Leu593Gln) c.842T>A (p.Leu281Gln) c.338T>A (p.Leu113Gln) n.2063T>A | dbSNP gnomAD v4 |
10 | g.70741007T>C | CA5539794 | ADAMTS14 | c.1769T>C (p.Leu590Pro) c.1778T>C (p.Leu593Pro) c.842T>C (p.Leu281Pro) c.338T>C (p.Leu113Pro) n.2063T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70741007T>G | CA377106209 | ADAMTS14 | c.1769T>G (p.Leu590Arg) c.1778T>G (p.Leu593Arg) c.842T>G (p.Leu281Arg) c.338T>G (p.Leu113Arg) n.2063T>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.70741007T= | CA1918391700 | ADAMTS14 | c.1769T= (p.Leu590=) c.1778T= (p.Leu593=) c.842T= (p.Leu281=) c.338T= (p.Leu113=) n.2063T= | |
10 | g.70741008G>A | CA5539795 | ADAMTS14 | c.1770G>A (p.Leu590=) c.1779G>A (p.Leu593=) c.843G>A (p.Leu281=) c.339G>A (p.Leu113=) n.2064G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70741008G>C | CA470053734 | ADAMTS14 | c.1770G>C (p.Leu590=) c.1779G>C (p.Leu593=) c.843G>C (p.Leu281=) c.339G>C (p.Leu113=) n.2064G>C | |
10 | g.70741008G= | CA1918391701 | ADAMTS14 | c.1770G= (p.Leu590=) c.1779G= (p.Leu593=) c.843G= (p.Leu281=) c.339G= (p.Leu113=) n.2064G= | |
10 | g.70741008G>T | CA470053735 | ADAMTS14 | c.1770G>T (p.Leu590=) c.1779G>T (p.Leu593=) c.843G>T (p.Leu281=) c.339G>T (p.Leu113=) n.2064G>T | |
10 | g.70741009T>A | CA377106210 | ADAMTS14 | c.1771T>A (p.Cys591Ser) c.1780T>A (p.Cys594Ser) c.844T>A (p.Cys282Ser) c.340T>A (p.Cys114Ser) n.2065T>A | |
10 | g.70741009T>C | CA377106211 | ADAMTS14 | c.1771T>C (p.Cys591Arg) c.1780T>C (p.Cys594Arg) c.844T>C (p.Cys282Arg) c.340T>C (p.Cys114Arg) n.2065T>C | |
10 | g.70741009T>G | CA377106212 | ADAMTS14 | c.1771T>G (p.Cys591Gly) c.1780T>G (p.Cys594Gly) c.844T>G (p.Cys282Gly) c.340T>G (p.Cys114Gly) n.2065T>G | |
10 | g.70741010G>A | CA377106213 | ADAMTS14 | c.1772G>A (p.Cys591Tyr) c.1781G>A (p.Cys594Tyr) c.845G>A (p.Cys282Tyr) c.341G>A (p.Cys114Tyr) n.2066G>A | gnomAD v4 |
10 | g.70741010G>C | CA377106215 | ADAMTS14 | c.1772G>C (p.Cys591Ser) c.1781G>C (p.Cys594Ser) c.845G>C (p.Cys282Ser) c.341G>C (p.Cys114Ser) n.2066G>C | |
10 | g.70741010G>T | CA377106214 | ADAMTS14 | c.1772G>T (p.Cys591Phe) c.1781G>T (p.Cys594Phe) c.845G>T (p.Cys282Phe) c.341G>T (p.Cys114Phe) n.2066G>T | |
10 | g.70741011C>A | CA377106216 | ADAMTS14 | c.1773C>A (p.Cys591Ter) c.1782C>A (p.Cys594Ter) c.846C>A (p.Cys282Ter) c.342C>A (p.Cys114Ter) n.2067C>A | |
10 | g.70741011C>G | CA377106217 | ADAMTS14 | c.1773C>G (p.Cys591Trp) c.1782C>G (p.Cys594Trp) c.846C>G (p.Cys282Trp) c.342C>G (p.Cys114Trp) n.2067C>G | |
10 | g.70741011C>T | CA470053736 | ADAMTS14 | c.1773C>T (p.Cys591=) c.1782C>T (p.Cys594=) c.846C>T (p.Cys282=) c.342C>T (p.Cys114=) n.2067C>T | |
10 | g.70741012T>A | CA377106218 | ADAMTS14 | c.1774T>A (p.Leu592Ile) c.1783T>A (p.Leu595Ile) c.847T>A (p.Leu283Ile) c.343T>A (p.Leu115Ile) n.2068T>A | |
10 | g.70741012T>C | CA470053737 | ADAMTS14 | c.1774T>C (p.Leu592=) c.1783T>C (p.Leu595=) c.847T>C (p.Leu283=) c.343T>C (p.Leu115=) n.2068T>C | gnomAD v4 |
10 | g.70741012T>G | CA377106219 | ADAMTS14 | c.1774T>G (p.Leu592Val) c.1783T>G (p.Leu595Val) c.847T>G (p.Leu283Val) c.343T>G (p.Leu115Val) n.2068T>G | |
10 | g.70741013T>A | CA377106220 | ADAMTS14 | c.1775T>A (p.Leu592Ter) c.1784T>A (p.Leu595Ter) c.848T>A (p.Leu283Ter) c.344T>A (p.Leu115Ter) n.2069T>A | |
10 | g.70741013T>C | CA377106221 | ADAMTS14 | c.1775T>C (p.Leu592Ser) c.1784T>C (p.Leu595Ser) c.848T>C (p.Leu283Ser) c.344T>C (p.Leu115Ser) n.2069T>C | |
10 | g.70741013T>G | CA377106222 | ADAMTS14 | c.1775T>G (p.Leu592Ter) c.1784T>G (p.Leu595Ter) c.848T>G (p.Leu283Ter) c.344T>G (p.Leu115Ter) n.2069T>G | |
10 | g.70741014A= | CA1918391702 | ADAMTS14 | c.1776A= (p.Leu592=) c.1785A= (p.Leu595=) c.849A= (p.Leu283=) c.345A= (p.Leu115=) n.2070A= | |
10 | g.70741014A>C | CA377106223 | ADAMTS14 | c.1776A>C (p.Leu592Phe) c.1785A>C (p.Leu595Phe) c.849A>C (p.Leu283Phe) c.345A>C (p.Leu115Phe) n.2070A>C | |
10 | g.70741014A>G | CA470053738 | ADAMTS14 | c.1776A>G (p.Leu592=) c.1785A>G (p.Leu595=) c.849A>G (p.Leu283=) c.345A>G (p.Leu115=) n.2070A>G | gnomAD v3 gnomAD v4 |
10 | g.70741014A>T | CA5539796 | ADAMTS14 | c.1776A>T (p.Leu592Phe) c.1785A>T (p.Leu595Phe) c.849A>T (p.Leu283Phe) c.345A>T (p.Leu115Phe) n.2070A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70741015G>A | CA377106225 | ADAMTS14 | c.1777G>A (p.Gly593Arg) c.1786G>A (p.Gly596Arg) c.850G>A (p.Gly284Arg) c.346G>A (p.Gly116Arg) n.2071G>A | |
10 | g.70741015G>C | CA377106226 | ADAMTS14 | c.1777G>C (p.Gly593Arg) c.1786G>C (p.Gly596Arg) c.850G>C (p.Gly284Arg) c.346G>C (p.Gly116Arg) n.2071G>C | |
10 | g.70741015G>T | CA377106224 | ADAMTS14 | c.1777G>T (p.Gly593Trp) c.1786G>T (p.Gly596Trp) c.850G>T (p.Gly284Trp) c.346G>T (p.Gly116Trp) n.2071G>T | |
10 | g.70741016G>A | CA5539797 | ADAMTS14 | c.1778G>A (p.Gly593Glu) c.1787G>A (p.Gly596Glu) c.851G>A (p.Gly284Glu) c.347G>A (p.Gly116Glu) n.2072G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70741016G>C | CA377106227 | ADAMTS14 | c.1778G>C (p.Gly593Ala) c.1787G>C (p.Gly596Ala) c.851G>C (p.Gly284Ala) c.347G>C (p.Gly116Ala) n.2072G>C | |
10 | g.70741016G= | CA1918391703 | ADAMTS14 | c.1778G= (p.Gly593=) c.1787G= (p.Gly596=) c.851G= (p.Gly284=) c.347G= (p.Gly116=) n.2072G= | |
10 | g.70741016G>T | CA377106228 | ADAMTS14 | c.1778G>T (p.Gly593Val) c.1787G>T (p.Gly596Val) c.851G>T (p.Gly284Val) c.347G>T (p.Gly116Val) n.2072G>T | |
10 | g.70741017G>A | CA209396466 | ADAMTS14 | c.1779G>A (p.Gly593=) c.1788G>A (p.Gly596=) c.852G>A (p.Gly284=) c.348G>A (p.Gly116=) n.2073G>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70741017G>C | CA470053739 | ADAMTS14 | c.1779G>C (p.Gly593=) c.1788G>C (p.Gly596=) c.852G>C (p.Gly284=) c.348G>C (p.Gly116=) n.2073G>C | |
10 | g.70741017G= | CA1918391704 | ADAMTS14 | c.1779G= (p.Gly593=) c.1788G= (p.Gly596=) c.852G= (p.Gly284=) c.348G= (p.Gly116=) n.2073G= | |
10 | g.70741017G>T | CA209396471 | ADAMTS14 | c.1779G>T (p.Gly593=) c.1788G>T (p.Gly596=) c.852G>T (p.Gly284=) c.348G>T (p.Gly116=) n.2073G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70741018C>A | CA377106231 | ADAMTS14 | c.1780C>A (p.Pro594Thr) c.1789C>A (p.Pro597Thr) c.853C>A (p.Pro285Thr) c.349C>A (p.Pro117Thr) n.2074C>A | |
10 | g.70741018C>G | CA377106230 | ADAMTS14 | c.1780C>G (p.Pro594Ala) c.1789C>G (p.Pro597Ala) c.853C>G (p.Pro285Ala) c.349C>G (p.Pro117Ala) n.2074C>G | |
10 | g.70741018C>T | CA377106229 | ADAMTS14 | c.1780C>T (p.Pro594Ser) c.1789C>T (p.Pro597Ser) c.853C>T (p.Pro285Ser) c.349C>T (p.Pro117Ser) n.2074C>T | |
10 | g.70741019C>A | CA377106232 | ADAMTS14 | c.1781C>A (p.Pro594His) c.1790C>A (p.Pro597His) c.854C>A (p.Pro285His) c.350C>A (p.Pro117His) n.2075C>A | |
10 | g.70741019C>G | CA377106233 | ADAMTS14 | c.1781C>G (p.Pro594Arg) c.1790C>G (p.Pro597Arg) c.854C>G (p.Pro285Arg) c.350C>G (p.Pro117Arg) n.2075C>G | |
10 | g.70741019C>T | CA377106234 | ADAMTS14 | c.1781C>T (p.Pro594Leu) c.1790C>T (p.Pro597Leu) c.854C>T (p.Pro285Leu) c.350C>T (p.Pro117Leu) n.2075C>T | |
10 | g.70741020C>A | CA470053742 | ADAMTS14 | c.1782C>A (p.Pro594=) c.1791C>A (p.Pro597=) c.855C>A (p.Pro285=) c.351C>A (p.Pro117=) n.2076C>A | |
10 | g.70741020C>G | CA470053740 | ADAMTS14 | c.1782C>G (p.Pro594=) c.1791C>G (p.Pro597=) c.855C>G (p.Pro285=) c.351C>G (p.Pro117=) n.2076C>G | |
10 | g.70741020C>T | CA470053741 | ADAMTS14 | c.1782C>T (p.Pro594=) c.1791C>T (p.Pro597=) c.855C>T (p.Pro285=) c.351C>T (p.Pro117=) n.2076C>T | |
10 | g.70741021A>C | CA377106235 | ADAMTS14 | c.1783A>C (p.Met595Leu) c.1792A>C (p.Met598Leu) c.856A>C (p.Met286Leu) c.352A>C (p.Met118Leu) n.2077A>C | |
10 | g.70741021A>G | CA377106236 | ADAMTS14 | c.1783A>G (p.Met595Val) c.1792A>G (p.Met598Val) c.856A>G (p.Met286Val) c.352A>G (p.Met118Val) n.2077A>G | |
10 | g.70741021A>T | CA377106237 | ADAMTS14 | c.1783A>T (p.Met595Leu) c.1792A>T (p.Met598Leu) c.856A>T (p.Met286Leu) c.352A>T (p.Met118Leu) n.2077A>T |