Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.70741007T>ACA377106208ADAMTS14c.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
10g.70741007T>CCA5539794ADAMTS14c.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
10g.70741007T>GCA377106209ADAMTS14c.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
10g.70741007T=CA1918391700ADAMTS14c.1769T= (p.Leu590=)
c.1778T= (p.Leu593=)
c.842T= (p.Leu281=)
c.338T= (p.Leu113=)
n.2063T=
10g.70741008G>ACA5539795ADAMTS14c.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
10g.70741008G>CCA470053734ADAMTS14c.1770G>C (p.Leu590=)
c.1779G>C (p.Leu593=)
c.843G>C (p.Leu281=)
c.339G>C (p.Leu113=)
n.2064G>C
10g.70741008G=CA1918391701ADAMTS14c.1770G= (p.Leu590=)
c.1779G= (p.Leu593=)
c.843G= (p.Leu281=)
c.339G= (p.Leu113=)
n.2064G=
10g.70741008G>TCA470053735ADAMTS14c.1770G>T (p.Leu590=)
c.1779G>T (p.Leu593=)
c.843G>T (p.Leu281=)
c.339G>T (p.Leu113=)
n.2064G>T
10g.70741009T>ACA377106210ADAMTS14c.1771T>A (p.Cys591Ser)
c.1780T>A (p.Cys594Ser)
c.844T>A (p.Cys282Ser)
c.340T>A (p.Cys114Ser)
n.2065T>A
10g.70741009T>CCA377106211ADAMTS14c.1771T>C (p.Cys591Arg)
c.1780T>C (p.Cys594Arg)
c.844T>C (p.Cys282Arg)
c.340T>C (p.Cys114Arg)
n.2065T>C
10g.70741009T>GCA377106212ADAMTS14c.1771T>G (p.Cys591Gly)
c.1780T>G (p.Cys594Gly)
c.844T>G (p.Cys282Gly)
c.340T>G (p.Cys114Gly)
n.2065T>G
10g.70741010G>ACA377106213ADAMTS14c.1772G>A (p.Cys591Tyr)
c.1781G>A (p.Cys594Tyr)
c.845G>A (p.Cys282Tyr)
c.341G>A (p.Cys114Tyr)
n.2066G>A
gnomAD v4
10g.70741010G>CCA377106215ADAMTS14c.1772G>C (p.Cys591Ser)
c.1781G>C (p.Cys594Ser)
c.845G>C (p.Cys282Ser)
c.341G>C (p.Cys114Ser)
n.2066G>C
10g.70741010G>TCA377106214ADAMTS14c.1772G>T (p.Cys591Phe)
c.1781G>T (p.Cys594Phe)
c.845G>T (p.Cys282Phe)
c.341G>T (p.Cys114Phe)
n.2066G>T
10g.70741011C>ACA377106216ADAMTS14c.1773C>A (p.Cys591Ter)
c.1782C>A (p.Cys594Ter)
c.846C>A (p.Cys282Ter)
c.342C>A (p.Cys114Ter)
n.2067C>A
10g.70741011C>GCA377106217ADAMTS14c.1773C>G (p.Cys591Trp)
c.1782C>G (p.Cys594Trp)
c.846C>G (p.Cys282Trp)
c.342C>G (p.Cys114Trp)
n.2067C>G
10g.70741011C>TCA470053736ADAMTS14c.1773C>T (p.Cys591=)
c.1782C>T (p.Cys594=)
c.846C>T (p.Cys282=)
c.342C>T (p.Cys114=)
n.2067C>T
10g.70741012T>ACA377106218ADAMTS14c.1774T>A (p.Leu592Ile)
c.1783T>A (p.Leu595Ile)
c.847T>A (p.Leu283Ile)
c.343T>A (p.Leu115Ile)
n.2068T>A
10g.70741012T>CCA470053737ADAMTS14c.1774T>C (p.Leu592=)
c.1783T>C (p.Leu595=)
c.847T>C (p.Leu283=)
c.343T>C (p.Leu115=)
n.2068T>C
gnomAD v4
10g.70741012T>GCA377106219ADAMTS14c.1774T>G (p.Leu592Val)
c.1783T>G (p.Leu595Val)
c.847T>G (p.Leu283Val)
c.343T>G (p.Leu115Val)
n.2068T>G
10g.70741013T>ACA377106220ADAMTS14c.1775T>A (p.Leu592Ter)
c.1784T>A (p.Leu595Ter)
c.848T>A (p.Leu283Ter)
c.344T>A (p.Leu115Ter)
n.2069T>A
10g.70741013T>CCA377106221ADAMTS14c.1775T>C (p.Leu592Ser)
c.1784T>C (p.Leu595Ser)
c.848T>C (p.Leu283Ser)
c.344T>C (p.Leu115Ser)
n.2069T>C
10g.70741013T>GCA377106222ADAMTS14c.1775T>G (p.Leu592Ter)
c.1784T>G (p.Leu595Ter)
c.848T>G (p.Leu283Ter)
c.344T>G (p.Leu115Ter)
n.2069T>G
10g.70741014A=CA1918391702ADAMTS14c.1776A= (p.Leu592=)
c.1785A= (p.Leu595=)
c.849A= (p.Leu283=)
c.345A= (p.Leu115=)
n.2070A=
10g.70741014A>CCA377106223ADAMTS14c.1776A>C (p.Leu592Phe)
c.1785A>C (p.Leu595Phe)
c.849A>C (p.Leu283Phe)
c.345A>C (p.Leu115Phe)
n.2070A>C
10g.70741014A>GCA470053738ADAMTS14c.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
10g.70741014A>TCA5539796ADAMTS14c.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
10g.70741015G>ACA377106225ADAMTS14c.1777G>A (p.Gly593Arg)
c.1786G>A (p.Gly596Arg)
c.850G>A (p.Gly284Arg)
c.346G>A (p.Gly116Arg)
n.2071G>A
10g.70741015G>CCA377106226ADAMTS14c.1777G>C (p.Gly593Arg)
c.1786G>C (p.Gly596Arg)
c.850G>C (p.Gly284Arg)
c.346G>C (p.Gly116Arg)
n.2071G>C
10g.70741015G>TCA377106224ADAMTS14c.1777G>T (p.Gly593Trp)
c.1786G>T (p.Gly596Trp)
c.850G>T (p.Gly284Trp)
c.346G>T (p.Gly116Trp)
n.2071G>T
10g.70741016G>ACA5539797ADAMTS14c.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
10g.70741016G>CCA377106227ADAMTS14c.1778G>C (p.Gly593Ala)
c.1787G>C (p.Gly596Ala)
c.851G>C (p.Gly284Ala)
c.347G>C (p.Gly116Ala)
n.2072G>C
10g.70741016G=CA1918391703ADAMTS14c.1778G= (p.Gly593=)
c.1787G= (p.Gly596=)
c.851G= (p.Gly284=)
c.347G= (p.Gly116=)
n.2072G=
10g.70741016G>TCA377106228ADAMTS14c.1778G>T (p.Gly593Val)
c.1787G>T (p.Gly596Val)
c.851G>T (p.Gly284Val)
c.347G>T (p.Gly116Val)
n.2072G>T
10g.70741017G>ACA209396466ADAMTS14c.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
10g.70741017G>CCA470053739ADAMTS14c.1779G>C (p.Gly593=)
c.1788G>C (p.Gly596=)
c.852G>C (p.Gly284=)
c.348G>C (p.Gly116=)
n.2073G>C
10g.70741017G=CA1918391704ADAMTS14c.1779G= (p.Gly593=)
c.1788G= (p.Gly596=)
c.852G= (p.Gly284=)
c.348G= (p.Gly116=)
n.2073G=
10g.70741017G>TCA209396471ADAMTS14c.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
10g.70741018C>ACA377106231ADAMTS14c.1780C>A (p.Pro594Thr)
c.1789C>A (p.Pro597Thr)
c.853C>A (p.Pro285Thr)
c.349C>A (p.Pro117Thr)
n.2074C>A
10g.70741018C>GCA377106230ADAMTS14c.1780C>G (p.Pro594Ala)
c.1789C>G (p.Pro597Ala)
c.853C>G (p.Pro285Ala)
c.349C>G (p.Pro117Ala)
n.2074C>G
10g.70741018C>TCA377106229ADAMTS14c.1780C>T (p.Pro594Ser)
c.1789C>T (p.Pro597Ser)
c.853C>T (p.Pro285Ser)
c.349C>T (p.Pro117Ser)
n.2074C>T
10g.70741019C>ACA377106232ADAMTS14c.1781C>A (p.Pro594His)
c.1790C>A (p.Pro597His)
c.854C>A (p.Pro285His)
c.350C>A (p.Pro117His)
n.2075C>A
10g.70741019C>GCA377106233ADAMTS14c.1781C>G (p.Pro594Arg)
c.1790C>G (p.Pro597Arg)
c.854C>G (p.Pro285Arg)
c.350C>G (p.Pro117Arg)
n.2075C>G
10g.70741019C>TCA377106234ADAMTS14c.1781C>T (p.Pro594Leu)
c.1790C>T (p.Pro597Leu)
c.854C>T (p.Pro285Leu)
c.350C>T (p.Pro117Leu)
n.2075C>T
10g.70741020C>ACA470053742ADAMTS14c.1782C>A (p.Pro594=)
c.1791C>A (p.Pro597=)
c.855C>A (p.Pro285=)
c.351C>A (p.Pro117=)
n.2076C>A
10g.70741020C>GCA470053740ADAMTS14c.1782C>G (p.Pro594=)
c.1791C>G (p.Pro597=)
c.855C>G (p.Pro285=)
c.351C>G (p.Pro117=)
n.2076C>G
10g.70741020C>TCA470053741ADAMTS14c.1782C>T (p.Pro594=)
c.1791C>T (p.Pro597=)
c.855C>T (p.Pro285=)
c.351C>T (p.Pro117=)
n.2076C>T
10g.70741021A>CCA377106235ADAMTS14c.1783A>C (p.Met595Leu)
c.1792A>C (p.Met598Leu)
c.856A>C (p.Met286Leu)
c.352A>C (p.Met118Leu)
n.2077A>C
10g.70741021A>GCA377106236ADAMTS14c.1783A>G (p.Met595Val)
c.1792A>G (p.Met598Val)
c.856A>G (p.Met286Val)
c.352A>G (p.Met118Val)
n.2077A>G
10g.70741021A>TCA377106237ADAMTS14c.1783A>T (p.Met595Leu)
c.1792A>T (p.Met598Leu)
c.856A>T (p.Met286Leu)
c.352A>T (p.Met118Leu)
n.2077A>T

Number of alleles fetched