Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.36245961_36246193delinsCTA | CA2573144542 | CLTA,GNE | c.547_709+70delinsTAG c.277_439+70delinsTAG c.454_616+70delinsTAG c.486-17237_486-17005delinsCTA (n.486-17237_486-17005delinsCTA) c.439_601+70delinsTAG | ClinVar dbSNP |
9 | g.36245976_36245980dup | CA587786405 | CLTA,GNE | c.709+53_709+57dup (n.709+53_709+57dup) c.439+53_439+57dup (n.439+53_439+57dup) c.616+53_616+57dup (n.616+53_616+57dup) c.486-17222_486-17218dup (n.486-17222_486-17218dup) c.601+53_601+57dup (n.601+53_601+57dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36245980C= | CA1846374885 | CLTA,GNE | c.709+51G= (n.709+51G=) c.439+51G= (n.439+51G=) c.616+51G= (n.616+51G=) c.486-17218C= (n.486-17218C=) c.601+51G= (n.601+51G=) | |
9 | g.36245980C>G | CA863602192 | CLTA,GNE | c.709+51G>C (n.709+51G>C) c.439+51G>C (n.439+51G>C) c.616+51G>C (n.616+51G>C) c.486-17218C>G (n.486-17218C>G) c.601+51G>C (n.601+51G>C) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36245980C>T | CA587786406 | CLTA,GNE | c.709+51G>A (n.709+51G>A) c.439+51G>A (n.439+51G>A) c.616+51G>A (n.616+51G>A) c.486-17218C>T (n.486-17218C>T) c.601+51G>A (n.601+51G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36245982T>C | CA5056689 | CLTA,GNE | c.709+49A>G (n.709+49A>G) c.439+49A>G (n.439+49A>G) c.616+49A>G (n.616+49A>G) c.486-17216T>C (n.486-17216T>C) c.601+49A>G (n.601+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36245982T= | CA1846374888 | CLTA,GNE | c.709+49A= (n.709+49A=) c.439+49A= (n.439+49A=) c.616+49A= (n.616+49A=) c.486-17216T= (n.486-17216T=) c.601+49A= (n.601+49A=) | |
9 | g.36245983T>A | CA863602198 | CLTA,GNE | c.709+48A>T (n.709+48A>T) c.439+48A>T (n.439+48A>T) c.616+48A>T (n.616+48A>T) c.486-17215T>A (n.486-17215T>A) c.601+48A>T (n.601+48A>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36245983T= | CA1846374894 | CLTA,GNE | c.709+48A= (n.709+48A=) c.439+48A= (n.439+48A=) c.616+48A= (n.616+48A=) c.486-17215T= (n.486-17215T=) c.601+48A= (n.601+48A=) | |
9 | g.36245986C>T | CA2689947808 | CLTA,GNE | c.709+45G>A (n.709+45G>A) c.439+45G>A (n.439+45G>A) c.616+45G>A (n.616+45G>A) c.486-17212C>T (n.486-17212C>T) c.601+45G>A (n.601+45G>A) | gnomAD v4 |
9 | g.36245988G>T | CA2579338594 | CLTA,GNE | c.709+43C>A (n.709+43C>A) c.439+43C>A (n.439+43C>A) c.616+43C>A (n.616+43C>A) c.486-17210G>T (n.486-17210G>T) c.601+43C>A (n.601+43C>A) | gnomAD v4 |
9 | g.36245989A>C | CA2689947809 | CLTA,GNE | c.709+42T>G (n.709+42T>G) c.439+42T>G (n.439+42T>G) c.616+42T>G (n.616+42T>G) c.486-17209A>C (n.486-17209A>C) c.601+42T>G (n.601+42T>G) | gnomAD v4 |
9 | g.36245990C>A | CA587786408 | CLTA,GNE | c.709+41G>T (n.709+41G>T) c.439+41G>T (n.439+41G>T) c.616+41G>T (n.616+41G>T) c.486-17208C>A (n.486-17208C>A) c.601+41G>T (n.601+41G>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36245990C= | CA1846374901 | CLTA,GNE | c.709+41G= (n.709+41G=) c.439+41G= (n.439+41G=) c.616+41G= (n.616+41G=) c.486-17208C= (n.486-17208C=) c.601+41G= (n.601+41G=) | |
9 | g.36245990C>T | CA587786407 | CLTA,GNE | c.709+41G>A (n.709+41G>A) c.439+41G>A (n.439+41G>A) c.616+41G>A (n.616+41G>A) c.486-17208C>T (n.486-17208C>T) c.601+41G>A (n.601+41G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36245991A>T | CA2689947811 | CLTA,GNE | c.709+40T>A (n.709+40T>A) c.439+40T>A (n.439+40T>A) c.616+40T>A (n.616+40T>A) c.486-17207A>T (n.486-17207A>T) c.601+40T>A (n.601+40T>A) | gnomAD v4 |
9 | g.36245995dup | CA2783549246 | CLTA,GNE | c.709+40dup (n.709+40dup) c.439+40dup (n.439+40dup) c.616+40dup (n.616+40dup) c.486-17203dup (n.486-17203dup) c.601+40dup (n.601+40dup) | |
9 | g.36245995del | CA2689947810 | CLTA,GNE | c.709+40del (n.709+40del) c.439+40del (n.439+40del) c.616+40del (n.616+40del) c.486-17203del (n.486-17203del) c.601+40del (n.601+40del) | gnomAD v4 |
9 | g.36245993A= | CA1846374904 | CLTA,GNE | c.709+38T= (n.709+38T=) c.439+38T= (n.439+38T=) c.616+38T= (n.616+38T=) c.486-17205A= (n.486-17205A=) c.601+38T= (n.601+38T=) | |
9 | g.36245993A>G | CA2689947812 | CLTA,GNE | c.709+38T>C (n.709+38T>C) c.439+38T>C (n.439+38T>C) c.616+38T>C (n.616+38T>C) c.486-17205A>G (n.486-17205A>G) c.601+38T>C (n.601+38T>C) | gnomAD v4 |
9 | g.36245993A>T | CA1846374905 | CLTA,GNE | c.709+38T>A (n.709+38T>A) c.439+38T>A (n.439+38T>A) c.616+38T>A (n.616+38T>A) c.486-17205A>T (n.486-17205A>T) c.601+38T>A (n.601+38T>A) | dbSNP |
9 | g.36245995A= | CA1846374911 | CLTA,GNE | c.709+36T= (n.709+36T=) c.439+36T= (n.439+36T=) c.616+36T= (n.616+36T=) c.486-17203A= (n.486-17203A=) c.601+36T= (n.601+36T=) | |
9 | g.36245995A>C | CA5056690 | CLTA,GNE | c.709+36T>G (n.709+36T>G) c.439+36T>G (n.439+36T>G) c.616+36T>G (n.616+36T>G) c.486-17203A>C (n.486-17203A>C) c.601+36T>G (n.601+36T>G) | dbSNP ExAC gnomAD v4 |
9 | g.36245995_36245996insAAAC | CA192827974 | CLTA,GNE | c.709+35_709+36insGTTT (n.709+35_709+36insGTTT) c.439+35_439+36insGTTT (n.439+35_439+36insGTTT) c.616+35_616+36insGTTT (n.616+35_616+36insGTTT) c.486-17203_486-17202insAAAC (n.486-17203_486-17202insAAAC) c.601+35_601+36insGTTT (n.601+35_601+36insGTTT) | dbSNP |
9 | g.36245996C= | CA1846374915 | CLTA,GNE | c.709+35G= (n.709+35G=) c.439+35G= (n.439+35G=) c.616+35G= (n.616+35G=) c.486-17202C= (n.486-17202C=) c.601+35G= (n.601+35G=) | |
9 | g.36245996C>G | CA1846374916 | CLTA,GNE | c.709+35G>C (n.709+35G>C) c.439+35G>C (n.439+35G>C) c.616+35G>C (n.616+35G>C) c.486-17202C>G (n.486-17202C>G) c.601+35G>C (n.601+35G>C) | dbSNP gnomAD v4 |
9 | g.36245996C>T | CA1846374913 | CLTA,GNE | c.709+35G>A (n.709+35G>A) c.439+35G>A (n.439+35G>A) c.616+35G>A (n.616+35G>A) c.486-17202C>T (n.486-17202C>T) c.601+35G>A (n.601+35G>A) | dbSNP |
9 | g.36245997A>T | CA2579338595 | CLTA,GNE | c.709+34T>A (n.709+34T>A) c.439+34T>A (n.439+34T>A) c.616+34T>A (n.616+34T>A) c.486-17201A>T (n.486-17201A>T) c.601+34T>A (n.601+34T>A) | |
9 | g.36245998G>A | CA2689947813 | CLTA,GNE | c.709+33C>T (n.709+33C>T) c.439+33C>T (n.439+33C>T) c.616+33C>T (n.616+33C>T) c.486-17200G>A (n.486-17200G>A) c.601+33C>T (n.601+33C>T) | gnomAD v4 |
9 | g.36245998G>T | CA2579338596 | CLTA,GNE | c.709+33C>A (n.709+33C>A) c.439+33C>A (n.439+33C>A) c.616+33C>A (n.616+33C>A) c.486-17200G>T (n.486-17200G>T) c.601+33C>A (n.601+33C>A) | gnomAD v4 |
9 | g.36246000C>A | CA588147228 | CLTA,GNE | c.709+31G>T (n.709+31G>T) c.439+31G>T (n.439+31G>T) c.616+31G>T (n.616+31G>T) c.486-17198C>A (n.486-17198C>A) c.601+31G>T (n.601+31G>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246000C= | CA1846374926 | CLTA,GNE | c.709+31G= (n.709+31G=) c.439+31G= (n.439+31G=) c.616+31G= (n.616+31G=) c.486-17198C= (n.486-17198C=) c.601+31G= (n.601+31G=) | |
9 | g.36246000C>G | CA1846374927 | CLTA,GNE | c.709+31G>C (n.709+31G>C) c.439+31G>C (n.439+31G>C) c.616+31G>C (n.616+31G>C) c.486-17198C>G (n.486-17198C>G) c.601+31G>C (n.601+31G>C) | dbSNP |
9 | g.36246000_36246002delinsCAT | CA1846374924 | CLTA,GNE | c.709+29_709+31delinsATG (n.709+29_709+31delinsATG) c.439+29_439+31delinsATG (n.439+29_439+31delinsATG) c.616+29_616+31delinsATG (n.616+29_616+31delinsATG) c.486-17198_486-17196delinsCAT (n.486-17198_486-17196delinsCAT) c.601+29_601+31delinsATG (n.601+29_601+31delinsATG) | |
9 | g.36246001A= | CA1846374930 | CLTA,GNE | c.709+30T= (n.709+30T=) c.439+30T= (n.439+30T=) c.616+30T= (n.616+30T=) c.486-17197A= (n.486-17197A=) c.601+30T= (n.601+30T=) | |
9 | g.36246001A>G | CA863602218 | CLTA,GNE | c.709+30T>C (n.709+30T>C) c.439+30T>C (n.439+30T>C) c.616+30T>C (n.616+30T>C) c.486-17197A>G (n.486-17197A>G) c.601+30T>C (n.601+30T>C) | dbSNP |
9 | g.36246001A>T | CA5056692 | CLTA,GNE | c.709+30T>A (n.709+30T>A) c.439+30T>A (n.439+30T>A) c.616+30T>A (n.616+30T>A) c.486-17197A>T (n.486-17197A>T) c.601+30T>A (n.601+30T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246001_36246002del | CA5056691 | CLTA,GNE | c.709+29_709+30del (n.709+29_709+30del) c.439+29_439+30del (n.439+29_439+30del) c.616+29_616+30del (n.616+29_616+30del) c.486-17197_486-17196del (n.486-17197_486-17196del) c.601+29_601+30del (n.601+29_601+30del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246002T>C | CA2579338597 | CLTA,GNE | c.709+29A>G (n.709+29A>G) c.439+29A>G (n.439+29A>G) c.616+29A>G (n.616+29A>G) c.486-17196T>C (n.486-17196T>C) c.601+29A>G (n.601+29A>G) | gnomAD v4 |
9 | g.36246002T>G | CA2689947814 | CLTA,GNE | c.709+29A>C (n.709+29A>C) c.439+29A>C (n.439+29A>C) c.616+29A>C (n.616+29A>C) c.486-17196T>G (n.486-17196T>G) c.601+29A>C (n.601+29A>C) | gnomAD v4 |
9 | g.36246003T>C | CA2689947815 | CLTA,GNE | c.709+28A>G (n.709+28A>G) c.439+28A>G (n.439+28A>G) c.616+28A>G (n.616+28A>G) c.486-17195T>C (n.486-17195T>C) c.601+28A>G (n.601+28A>G) | gnomAD v4 |
9 | g.36246004A= | CA1846374934 | CLTA,GNE | c.709+27T= (n.709+27T=) c.439+27T= (n.439+27T=) c.616+27T= (n.616+27T=) c.486-17194A= (n.486-17194A=) c.601+27T= (n.601+27T=) | |
9 | g.36246004A>C | CA2689947816 | CLTA,GNE | c.709+27T>G (n.709+27T>G) c.439+27T>G (n.439+27T>G) c.616+27T>G (n.616+27T>G) c.486-17194A>C (n.486-17194A>C) c.601+27T>G (n.601+27T>G) | gnomAD v4 |
9 | g.36246004A>G | CA5056693 | CLTA,GNE | c.709+27T>C (n.709+27T>C) c.439+27T>C (n.439+27T>C) c.616+27T>C (n.616+27T>C) c.486-17194A>G (n.486-17194A>G) c.601+27T>C (n.601+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246004A>T | CA2579338598 | CLTA,GNE | c.709+27T>A (n.709+27T>A) c.439+27T>A (n.439+27T>A) c.616+27T>A (n.616+27T>A) c.486-17194A>T (n.486-17194A>T) c.601+27T>A (n.601+27T>A) | gnomAD v4 |
9 | g.36246005G>A | CA5056694 | CLTA,GNE | c.709+26C>T (n.709+26C>T) c.439+26C>T (n.439+26C>T) c.616+26C>T (n.616+26C>T) c.486-17193G>A (n.486-17193G>A) c.601+26C>T (n.601+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246005G= | CA1846374935 | CLTA,GNE | c.709+26C= (n.709+26C=) c.439+26C= (n.439+26C=) c.616+26C= (n.616+26C=) c.486-17193G= (n.486-17193G=) c.601+26C= (n.601+26C=) | |
9 | g.36246005G>T | CA2689947817 | CLTA,GNE | c.709+26C>A (n.709+26C>A) c.439+26C>A (n.439+26C>A) c.616+26C>A (n.616+26C>A) c.486-17193G>T (n.486-17193G>T) c.601+26C>A (n.601+26C>A) | gnomAD v4 |
9 | g.36246007C>G | CA2689947818 | CLTA,GNE | c.709+24G>C (n.709+24G>C) c.439+24G>C (n.439+24G>C) c.616+24G>C (n.616+24G>C) c.486-17191C>G (n.486-17191C>G) c.601+24G>C (n.601+24G>C) | gnomAD v4 |
9 | g.36246008T>C | CA5056695 | CLTA,GNE | c.709+23A>G (n.709+23A>G) c.439+23A>G (n.439+23A>G) c.616+23A>G (n.616+23A>G) c.486-17190T>C (n.486-17190T>C) c.601+23A>G (n.601+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246008T= | CA1846374938 | CLTA,GNE | c.709+23A= (n.709+23A=) c.439+23A= (n.439+23A=) c.616+23A= (n.616+23A=) c.486-17190T= (n.486-17190T=) c.601+23A= (n.601+23A=) | |
9 | g.36246009G>A | CA1846374942 | CLTA,GNE | c.709+22C>T (n.709+22C>T) c.439+22C>T (n.439+22C>T) c.616+22C>T (n.616+22C>T) c.486-17189G>A (n.486-17189G>A) c.601+22C>T (n.601+22C>T) | dbSNP |
9 | g.36246009G= | CA1846374941 | CLTA,GNE | c.709+22C= (n.709+22C=) c.439+22C= (n.439+22C=) c.616+22C= (n.616+22C=) c.486-17189G= (n.486-17189G=) c.601+22C= (n.601+22C=) | |
9 | g.36246009G>T | CA2689947819 | CLTA,GNE | c.709+22C>A (n.709+22C>A) c.439+22C>A (n.439+22C>A) c.616+22C>A (n.616+22C>A) c.486-17189G>T (n.486-17189G>T) c.601+22C>A (n.601+22C>A) | gnomAD v4 |
9 | g.36246011C= | CA1846374946 | CLTA,GNE | c.709+20G= (n.709+20G=) c.439+20G= (n.439+20G=) c.616+20G= (n.616+20G=) c.486-17187C= (n.486-17187C=) c.601+20G= (n.601+20G=) | |
9 | g.36246011C>G | CA5056696 | CLTA,GNE | c.709+20G>C (n.709+20G>C) c.439+20G>C (n.439+20G>C) c.616+20G>C (n.616+20G>C) c.486-17187C>G (n.486-17187C>G) c.601+20G>C (n.601+20G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246013A= | CA1846374947 | CLTA,GNE | c.709+18T= (n.709+18T=) c.439+18T= (n.439+18T=) c.616+18T= (n.616+18T=) c.486-17185A= (n.486-17185A=) c.601+18T= (n.601+18T=) | |
9 | g.36246013A>G | CA192828007 | CLTA,GNE | c.709+18T>C (n.709+18T>C) c.439+18T>C (n.439+18T>C) c.616+18T>C (n.616+18T>C) c.486-17185A>G (n.486-17185A>G) c.601+18T>C (n.601+18T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246016G= | CA1846374948 | CLTA,GNE | c.709+15C= (n.709+15C=) c.439+15C= (n.439+15C=) c.616+15C= (n.616+15C=) c.486-17182G= (n.486-17182G=) c.601+15C= (n.601+15C=) | |
9 | g.36246016G>T | CA192828016 | CLTA,GNE | c.709+15C>A (n.709+15C>A) c.439+15C>A (n.439+15C>A) c.616+15C>A (n.616+15C>A) c.486-17182G>T (n.486-17182G>T) c.601+15C>A (n.601+15C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246018C= | CA1846374951 | CLTA,GNE | c.709+13G= (n.709+13G=) c.439+13G= (n.439+13G=) c.616+13G= (n.616+13G=) c.486-17180C= (n.486-17180C=) c.601+13G= (n.601+13G=) | |
9 | g.36246018C>G | CA863602225 | CLTA,GNE | c.709+13G>C (n.709+13G>C) c.439+13G>C (n.439+13G>C) c.616+13G>C (n.616+13G>C) c.486-17180C>G (n.486-17180C>G) c.601+13G>C (n.601+13G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246019dup | CA863602227 | CLTA,GNE | c.709+12dup (n.709+12dup) c.439+12dup (n.439+12dup) c.616+12dup (n.616+12dup) c.486-17179dup (n.486-17179dup) c.601+12dup (n.601+12dup) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246021A= | CA1846374959 | CLTA,GNE | c.709+10T= (n.709+10T=) c.439+10T= (n.439+10T=) c.616+10T= (n.616+10T=) c.486-17177A= (n.486-17177A=) c.601+10T= (n.601+10T=) | |
9 | g.36246021A>T | CA1846374963 | CLTA,GNE | c.709+10T>A (n.709+10T>A) c.439+10T>A (n.439+10T>A) c.616+10T>A (n.616+10T>A) c.486-17177A>T (n.486-17177A>T) c.601+10T>A (n.601+10T>A) | dbSNP |
9 | g.36246022G>T | CA2689947820 | CLTA,GNE | c.709+9C>A (n.709+9C>A) c.439+9C>A (n.439+9C>A) c.616+9C>A (n.616+9C>A) c.486-17176G>T (n.486-17176G>T) c.601+9C>A (n.601+9C>A) | gnomAD v4 |
9 | g.36246023A= | CA1846374968 | CLTA,GNE | c.709+8T= (n.709+8T=) c.439+8T= (n.439+8T=) c.616+8T= (n.616+8T=) c.486-17175A= (n.486-17175A=) c.601+8T= (n.601+8T=) | |
9 | g.36246023A>C | CA1846374969 | CLTA,GNE | c.709+8T>G (n.709+8T>G) c.439+8T>G (n.439+8T>G) c.616+8T>G (n.616+8T>G) c.486-17175A>C (n.486-17175A>C) c.601+8T>G (n.601+8T>G) | dbSNP |
9 | g.36246024T>C | CA5056697 | CLTA,GNE | c.709+7A>G (n.709+7A>G) c.439+7A>G (n.439+7A>G) c.616+7A>G (n.616+7A>G) c.486-17174T>C (n.486-17174T>C) c.601+7A>G (n.601+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246024T= | CA1846374972 | CLTA,GNE | c.709+7A= (n.709+7A=) c.439+7A= (n.439+7A=) c.616+7A= (n.616+7A=) c.486-17174T= (n.486-17174T=) c.601+7A= (n.601+7A=) | |
9 | g.36246025A>G | CA2689947821 | CLTA,GNE | c.709+6T>C (n.709+6T>C) c.439+6T>C (n.439+6T>C) c.616+6T>C (n.616+6T>C) c.486-17173A>G (n.486-17173A>G) c.601+6T>C (n.601+6T>C) | gnomAD v4 |
9 | g.36246026C= | CA1846374975 | CLTA,GNE | c.709+5G= (n.709+5G=) c.439+5G= (n.439+5G=) c.616+5G= (n.616+5G=) c.486-17172C= (n.486-17172C=) c.601+5G= (n.601+5G=) | |
9 | g.36246026C>G | CA2565778776 | CLTA,GNE | c.709+5G>C (n.709+5G>C) c.439+5G>C (n.439+5G>C) c.616+5G>C (n.616+5G>C) c.486-17172C>G (n.486-17172C>G) c.601+5G>C (n.601+5G>C) | |
9 | g.36246026C>T | CA5056698 | CLTA,GNE | c.709+5G>A (n.709+5G>A) c.439+5G>A (n.439+5G>A) c.616+5G>A (n.616+5G>A) c.486-17172C>T (n.486-17172C>T) c.601+5G>A (n.601+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246027G>A | CA5056700 | CLTA,GNE | c.709+4C>T (n.709+4C>T) c.439+4C>T (n.439+4C>T) c.616+4C>T (n.616+4C>T) c.486-17171G>A (n.486-17171G>A) c.601+4C>T (n.601+4C>T) | ClinVar dbSNP ExAC gnomAD v4 |
9 | g.36246027G= | CA1846374984 | CLTA,GNE | c.709+4C= (n.709+4C=) c.439+4C= (n.439+4C=) c.616+4C= (n.616+4C=) c.486-17171G= (n.486-17171G=) c.601+4C= (n.601+4C=) | |
9 | g.36246027G>T | CA5056699 | CLTA,GNE | c.709+4C>A (n.709+4C>A) c.439+4C>A (n.439+4C>A) c.616+4C>A (n.616+4C>A) c.486-17171G>T (n.486-17171G>T) c.601+4C>A (n.601+4C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246030_36246033del | CA2697557737 | CLTA,GNE | c.709_709+3del c.439_439+3del c.616_616+3del c.486-17168_486-17165del (n.486-17168_486-17165del) c.601_601+3del | ClinVar |
9 | g.36246029A>C | CA373417935 | CLTA,GNE | c.709+2T>G (n.709+2T>G) c.439+2T>G (n.439+2T>G) c.616+2T>G (n.616+2T>G) c.486-17169A>C (n.486-17169A>C) c.601+2T>G (n.601+2T>G) | |
9 | g.36246029A>G | CA373417937 | CLTA,GNE | c.709+2T>C (n.709+2T>C) c.439+2T>C (n.439+2T>C) c.616+2T>C (n.616+2T>C) c.486-17169A>G (n.486-17169A>G) c.601+2T>C (n.601+2T>C) | |
9 | g.36246029A>T | CA373417936 | CLTA,GNE | c.709+2T>A (n.709+2T>A) c.439+2T>A (n.439+2T>A) c.616+2T>A (n.616+2T>A) c.486-17169A>T (n.486-17169A>T) c.601+2T>A (n.601+2T>A) | |
9 | g.36246029_36246030del | CA913157668 | CLTA,GNE | c.709+1_709+2del (n.709+1_709+2del) c.439+1_439+2del (n.439+1_439+2del) c.616+1_616+2del (n.616+1_616+2del) c.486-17169_486-17168del (n.486-17169_486-17168del) c.601+1_601+2del (n.601+1_601+2del) | |
9 | g.36246029_36246030delinsAC | CA1846374990 | CLTA,GNE | c.709+1_709+2delinsGT (n.709+1_709+2delinsGT) c.439+1_439+2delinsGT (n.439+1_439+2delinsGT) c.616+1_616+2delinsGT (n.616+1_616+2delinsGT) c.486-17169_486-17168delinsAC (n.486-17169_486-17168delinsAC) c.601+1_601+2delinsGT (n.601+1_601+2delinsGT) | |
9 | g.36246030C>A | CA373417938 | CLTA,GNE | c.709+1G>T (n.709+1G>T) c.439+1G>T (n.439+1G>T) c.616+1G>T (n.616+1G>T) c.486-17168C>A (n.486-17168C>A) c.601+1G>T (n.601+1G>T) | |
9 | g.36246030C= | CA1846374994 | CLTA,GNE | c.709+1G= (n.709+1G=) c.439+1G= (n.439+1G=) c.616+1G= (n.616+1G=) c.486-17168C= (n.486-17168C=) c.601+1G= (n.601+1G=) | |
9 | g.36246030C>G | CA373417939 | CLTA,GNE | c.709+1G>C (n.709+1G>C) c.439+1G>C (n.439+1G>C) c.616+1G>C (n.616+1G>C) c.486-17168C>G (n.486-17168C>G) c.601+1G>C (n.601+1G>C) | |
9 | g.36246030C>T | CA373417940 | CLTA,GNE | c.709+1G>A (n.709+1G>A) c.439+1G>A (n.439+1G>A) c.616+1G>A (n.616+1G>A) c.486-17168C>T (n.486-17168C>T) c.601+1G>A (n.601+1G>A) | dbSNP |
9 | g.36246031del | CA658822302 | CLTA,GNE | c.709+1del c.439+1del c.616+1del c.486-17167del (n.486-17167del) c.601+1del | ClinVar dbSNP gnomAD v4 |
9 | g.36246031C>A | CA373417941 | CLTA,GNE | c.709G>T (p.Gly237Cys) c.439G>T (p.Gly147Cys) c.616G>T (p.Gly206Cys) c.486-17167C>A (n.486-17167C>A) c.439G>T (p.Gly147Trp) c.601G>T (p.Gly201Cys) c.709G>T (p.Gly237Trp) c.616G>T (p.Gly206Trp) | |
9 | g.36246031C= | CA1846375002 | CLTA,GNE | c.709G= (p.Gly237=) c.439G= (p.Gly147=) c.616G= (p.Gly206=) c.486-17167C= (n.486-17167C=) c.601G= (p.Gly201=) | |
9 | g.36246031C>G | CA373417943 | CLTA,GNE | c.709G>C (p.Gly237Arg) c.439G>C (p.Gly147Arg) c.616G>C (p.Gly206Arg) c.486-17167C>G (n.486-17167C>G) c.601G>C (p.Gly201Arg) | |
9 | g.36246031C>T | CA5056701 | CLTA,GNE | c.709G>A (p.Gly237Ser) c.439G>A (p.Gly147Ser) c.616G>A (p.Gly206Ser) c.486-17167C>T (n.486-17167C>T) c.439G>A (p.Gly147Arg) c.601G>A (p.Gly201Ser) c.709G>A (p.Gly237Arg) c.616G>A (p.Gly206Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246032T>A | CA464619567 | CLTA,GNE | c.708A>T (p.Leu236=) c.438A>T (p.Leu146=) c.615A>T (p.Leu205=) c.486-17166T>A (n.486-17166T>A) c.600A>T (p.Leu200=) | |
9 | g.36246032T>C | CA464619568 | CLTA,GNE | c.708A>G (p.Leu236=) c.438A>G (p.Leu146=) c.615A>G (p.Leu205=) c.486-17166T>C (n.486-17166T>C) c.600A>G (p.Leu200=) | |
9 | g.36246032T>G | CA464619569 | CLTA,GNE | c.708A>C (p.Leu236=) c.438A>C (p.Leu146=) c.615A>C (p.Leu205=) c.486-17166T>G (n.486-17166T>G) c.600A>C (p.Leu200=) | |
9 | g.36246033A>C | CA373417947 | CLTA,GNE | c.707T>G (p.Leu236Arg) c.437T>G (p.Leu146Arg) c.614T>G (p.Leu205Arg) c.486-17165A>C (n.486-17165A>C) c.599T>G (p.Leu200Arg) | |
9 | g.36246033A>G | CA373417949 | CLTA,GNE | c.707T>C (p.Leu236Pro) c.437T>C (p.Leu146Pro) c.614T>C (p.Leu205Pro) c.486-17165A>G (n.486-17165A>G) c.599T>C (p.Leu200Pro) | |
9 | g.36246033A>T | CA373417950 | CLTA,GNE | c.707T>A (p.Leu236Gln) c.437T>A (p.Leu146Gln) c.614T>A (p.Leu205Gln) c.486-17165A>T (n.486-17165A>T) c.599T>A (p.Leu200Gln) | |
9 | g.36246034G>A | CA464619573 | CLTA,GNE | c.706C>T (p.Leu236=) c.436C>T (p.Leu146=) c.613C>T (p.Leu205=) c.486-17164G>A (n.486-17164G>A) c.598C>T (p.Leu200=) | |
9 | g.36246034G>C | CA5056702 | CLTA,GNE | c.706C>G (p.Leu236Val) c.436C>G (p.Leu146Val) c.613C>G (p.Leu205Val) c.486-17164G>C (n.486-17164G>C) c.598C>G (p.Leu200Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246034G= | CA1846375010 | CLTA,GNE | c.706C= (p.Leu236=) c.436C= (p.Leu146=) c.613C= (p.Leu205=) c.486-17164G= (n.486-17164G=) c.598C= (p.Leu200=) | |
9 | g.36246034G>T | CA373417953 | CLTA,GNE | c.706C>A (p.Leu236Ile) c.436C>A (p.Leu146Ile) c.613C>A (p.Leu205Ile) c.486-17164G>T (n.486-17164G>T) c.598C>A (p.Leu200Ile) | gnomAD v4 |
9 | g.36246035C>A | CA373417958 | CLTA,GNE | c.705G>T (p.Trp235Cys) c.435G>T (p.Trp145Cys) c.612G>T (p.Trp204Cys) c.486-17163C>A (n.486-17163C>A) c.597G>T (p.Trp199Cys) | |
9 | g.36246035C= | CA1846375019 | CLTA,GNE | c.705G= (p.Trp235=) c.435G= (p.Trp145=) c.612G= (p.Trp204=) c.486-17163C= (n.486-17163C=) c.597G= (p.Trp199=) | |
9 | g.36246035C>G | CA373417959 | CLTA,GNE | c.705G>C (p.Trp235Cys) c.435G>C (p.Trp145Cys) c.612G>C (p.Trp204Cys) c.486-17163C>G (n.486-17163C>G) c.597G>C (p.Trp199Cys) | |
9 | g.36246035C>T | CA273969 | CLTA,GNE | c.705G>A (p.Trp235Ter) c.435G>A (p.Trp145Ter) c.612G>A (p.Trp204Ter) c.486-17163C>T (n.486-17163C>T) c.597G>A (p.Trp199Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246036C>A | CA373417968 | CLTA,GNE | c.704G>T (p.Trp235Leu) c.434G>T (p.Trp145Leu) c.611G>T (p.Trp204Leu) c.486-17162C>A (n.486-17162C>A) c.596G>T (p.Trp199Leu) | |
9 | g.36246036C= | CA1846375024 | CLTA,GNE | c.704G= (p.Trp235=) c.434G= (p.Trp145=) c.611G= (p.Trp204=) c.486-17162C= (n.486-17162C=) c.596G= (p.Trp199=) | |
9 | g.36246036C>G | CA5056703 | CLTA,GNE | c.704G>C (p.Trp235Ser) c.434G>C (p.Trp145Ser) c.611G>C (p.Trp204Ser) c.486-17162C>G (n.486-17162C>G) c.596G>C (p.Trp199Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246036C>T | CA373417964 | CLTA,GNE | c.704G>A (p.Trp235Ter) c.434G>A (p.Trp145Ter) c.611G>A (p.Trp204Ter) c.486-17162C>T (n.486-17162C>T) c.596G>A (p.Trp199Ter) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246037A>C | CA373417969 | CLTA,GNE | c.703T>G (p.Trp235Gly) c.433T>G (p.Trp145Gly) c.610T>G (p.Trp204Gly) c.486-17161A>C (n.486-17161A>C) c.595T>G (p.Trp199Gly) | |
9 | g.36246037A>G | CA373417970 | CLTA,GNE | c.703T>C (p.Trp235Arg) c.433T>C (p.Trp145Arg) c.610T>C (p.Trp204Arg) c.486-17161A>G (n.486-17161A>G) c.595T>C (p.Trp199Arg) | |
9 | g.36246037A>T | CA373417971 | CLTA,GNE | c.703T>A (p.Trp235Arg) c.433T>A (p.Trp145Arg) c.610T>A (p.Trp204Arg) c.486-17161A>T (n.486-17161A>T) c.595T>A (p.Trp199Arg) | |
9 | g.36246038C>A | CA373417974 | CLTA,GNE | c.702G>T (p.Met234Ile) c.432G>T (p.Met144Ile) c.609G>T (p.Met203Ile) c.486-17160C>A (n.486-17160C>A) c.594G>T (p.Met198Ile) | |
9 | g.36246038C>G | CA373417973 | CLTA,GNE | c.702G>C (p.Met234Ile) c.432G>C (p.Met144Ile) c.609G>C (p.Met203Ile) c.486-17160C>G (n.486-17160C>G) c.594G>C (p.Met198Ile) | |
9 | g.36246038C>T | CA373417972 | CLTA,GNE | c.702G>A (p.Met234Ile) c.432G>A (p.Met144Ile) c.609G>A (p.Met203Ile) c.486-17160C>T (n.486-17160C>T) c.594G>A (p.Met198Ile) | gnomAD v4 |
9 | g.36246039A= | CA1846375029 | CLTA,GNE | c.701T= (p.Met234=) c.431T= (p.Met144=) c.608T= (p.Met203=) c.486-17159A= (n.486-17159A=) c.593T= (p.Met198=) | |
9 | g.36246039A>C | CA373417975 | CLTA,GNE | c.701T>G (p.Met234Arg) c.431T>G (p.Met144Arg) c.608T>G (p.Met203Arg) c.486-17159A>C (n.486-17159A>C) c.593T>G (p.Met198Arg) | |
9 | g.36246039A>G | CA373417976 | CLTA,GNE | c.701T>C (p.Met234Thr) c.431T>C (p.Met144Thr) c.608T>C (p.Met203Thr) c.486-17159A>G (n.486-17159A>G) c.593T>C (p.Met198Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246039A>T | CA5056704 | CLTA,GNE | c.701T>A (p.Met234Lys) c.431T>A (p.Met144Lys) c.608T>A (p.Met203Lys) c.486-17159A>T (n.486-17159A>T) c.593T>A (p.Met198Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246040T>A | CA373417977 | CLTA,GNE | c.700A>T (p.Met234Leu) c.430A>T (p.Met144Leu) c.607A>T (p.Met203Leu) c.486-17158T>A (n.486-17158T>A) c.592A>T (p.Met198Leu) | gnomAD v4 |
9 | g.36246040T>C | CA373417978 | CLTA,GNE | c.700A>G (p.Met234Val) c.430A>G (p.Met144Val) c.607A>G (p.Met203Val) c.486-17158T>C (n.486-17158T>C) c.592A>G (p.Met198Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246040T>G | CA373417979 | CLTA,GNE | c.700A>C (p.Met234Leu) c.430A>C (p.Met144Leu) c.607A>C (p.Met203Leu) c.486-17158T>G (n.486-17158T>G) c.592A>C (p.Met198Leu) | |
9 | g.36246040T= | CA1846375040 | CLTA,GNE | c.700A= (p.Met234=) c.430A= (p.Met144=) c.607A= (p.Met203=) c.486-17158T= (n.486-17158T=) c.592A= (p.Met198=) | |
9 | g.36246041G>A | CA464619586 | CLTA,GNE | c.699C>T (p.Arg233=) c.429C>T (p.Arg143=) c.606C>T (p.Arg202=) c.486-17157G>A (n.486-17157G>A) c.591C>T (p.Arg197=) | |
9 | g.36246041G>C | CA464619589 | CLTA,GNE | c.699C>G (p.Arg233=) c.429C>G (p.Arg143=) c.606C>G (p.Arg202=) c.486-17157G>C (n.486-17157G>C) c.591C>G (p.Arg197=) | |
9 | g.36246041G>T | CA464619584 | CLTA,GNE | c.699C>A (p.Arg233=) c.429C>A (p.Arg143=) c.606C>A (p.Arg202=) c.486-17157G>T (n.486-17157G>T) c.591C>A (p.Arg197=) | |
9 | g.36246042C>A | CA5056705 | CLTA,GNE | c.698G>T (p.Arg233Leu) c.428G>T (p.Arg143Leu) c.605G>T (p.Arg202Leu) c.486-17156C>A (n.486-17156C>A) c.590G>T (p.Arg197Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246042C= | CA1846375049 | CLTA,GNE | c.698G= (p.Arg233=) c.428G= (p.Arg143=) c.605G= (p.Arg202=) c.486-17156C= (n.486-17156C=) c.590G= (p.Arg197=) | |
9 | g.36246042C>G | CA373417980 | CLTA,GNE | c.698G>C (p.Arg233Pro) c.428G>C (p.Arg143Pro) c.605G>C (p.Arg202Pro) c.486-17156C>G (n.486-17156C>G) c.590G>C (p.Arg197Pro) | ClinVar |
9 | g.36246042C>T | CA373417981 | CLTA,GNE | c.698G>A (p.Arg233His) c.428G>A (p.Arg143His) c.605G>A (p.Arg202His) c.486-17156C>T (n.486-17156C>T) c.590G>A (p.Arg197His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246043G>A | CA5056706 | CLTA,GNE | c.697C>T (p.Arg233Cys) c.427C>T (p.Arg143Cys) c.604C>T (p.Arg202Cys) c.486-17155G>A (n.486-17155G>A) c.589C>T (p.Arg197Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246043G>C | CA373417982 | CLTA,GNE | c.697C>G (p.Arg233Gly) c.427C>G (p.Arg143Gly) c.604C>G (p.Arg202Gly) c.486-17155G>C (n.486-17155G>C) c.589C>G (p.Arg197Gly) | |
9 | g.36246043G= | CA1846375060 | CLTA,GNE | c.697C= (p.Arg233=) c.427C= (p.Arg143=) c.604C= (p.Arg202=) c.486-17155G= (n.486-17155G=) c.589C= (p.Arg197=) | |
9 | g.36246043G>T | CA373417983 | CLTA,GNE | c.697C>A (p.Arg233Ser) c.427C>A (p.Arg143Ser) c.604C>A (p.Arg202Ser) c.486-17155G>T (n.486-17155G>T) c.589C>A (p.Arg197Ser) | |
9 | g.36246045_36246048dup | CA10603834 | CLTA,GNE | c.694_697dup (p.Arg233HisfsTer7) c.424_427dup (p.Arg143HisfsTer7) c.601_604dup (p.Arg202HisfsTer7) c.486-17153_486-17150dup (n.486-17153_486-17150dup) c.424_427dup (p.Arg143HisfsTer20) c.586_589dup (p.Arg197HisfsTer7) c.694_697dup (p.Arg233HisfsTer20) c.601_604dup (p.Arg202HisfsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246044A>C | CA373417984 | CLTA,GNE | c.696T>G (p.Ile232Met) c.426T>G (p.Ile142Met) c.603T>G (p.Ile201Met) c.486-17154A>C (n.486-17154A>C) c.588T>G (p.Ile196Met) | |
9 | g.36246044A>G | CA464619596 | CLTA,GNE | c.696T>C (p.Ile232=) c.426T>C (p.Ile142=) c.603T>C (p.Ile201=) c.486-17154A>G (n.486-17154A>G) c.588T>C (p.Ile196=) | |
9 | g.36246044A>T | CA464619597 | CLTA,GNE | c.696T>A (p.Ile232=) c.426T>A (p.Ile142=) c.603T>A (p.Ile201=) c.486-17154A>T (n.486-17154A>T) c.588T>A (p.Ile196=) | |
9 | g.36246045A= | CA1846375070 | CLTA,GNE | c.695T= (p.Ile232=) c.425T= (p.Ile142=) c.602T= (p.Ile201=) c.486-17153A= (n.486-17153A=) c.587T= (p.Ile196=) | |
9 | g.36246045A>C | CA373417985 | CLTA,GNE | c.695T>G (p.Ile232Ser) c.425T>G (p.Ile142Ser) c.602T>G (p.Ile201Ser) c.486-17153A>C (n.486-17153A>C) c.587T>G (p.Ile196Ser) | |
9 | g.36246045A>G | CA373417986 | CLTA,GNE | c.695T>C (p.Ile232Thr) c.425T>C (p.Ile142Thr) c.602T>C (p.Ile201Thr) c.486-17153A>G (n.486-17153A>G) c.587T>C (p.Ile196Thr) | |
9 | g.36246045A>T | CA373417987 | CLTA,GNE | c.695T>A (p.Ile232Asn) c.425T>A (p.Ile142Asn) c.602T>A (p.Ile201Asn) c.486-17153A>T (n.486-17153A>T) c.587T>A (p.Ile196Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.36246046T>A | CA373417988 | CLTA,GNE | c.694A>T (p.Ile232Phe) c.424A>T (p.Ile142Phe) c.601A>T (p.Ile201Phe) c.486-17152T>A (n.486-17152T>A) c.586A>T (p.Ile196Phe) | |
9 | g.36246046T>C | CA5056707 | CLTA,GNE | c.694A>G (p.Ile232Val) c.424A>G (p.Ile142Val) c.601A>G (p.Ile201Val) c.486-17152T>C (n.486-17152T>C) c.586A>G (p.Ile196Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246046T>G | CA373417989 | CLTA,GNE | c.694A>C (p.Ile232Leu) c.424A>C (p.Ile142Leu) c.601A>C (p.Ile201Leu) c.486-17152T>G (n.486-17152T>G) c.586A>C (p.Ile196Leu) | |
9 | g.36246046T= | CA1846375078 | CLTA,GNE | c.694A= (p.Ile232=) c.424A= (p.Ile142=) c.601A= (p.Ile201=) c.486-17152T= (n.486-17152T=) c.586A= (p.Ile196=) | |
9 | g.36246047G>A | CA202360 | CLTA,GNE | c.693C>T (p.Ile231=) c.423C>T (p.Ile141=) c.600C>T (p.Ile200=) c.486-17151G>A (n.486-17151G>A) c.585C>T (p.Ile195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246047G>C | CA373417990 | CLTA,GNE | c.693C>G (p.Ile231Met) c.423C>G (p.Ile141Met) c.600C>G (p.Ile200Met) c.486-17151G>C (n.486-17151G>C) c.585C>G (p.Ile195Met) | |
9 | g.36246047G= | CA1846375088 | CLTA,GNE | c.693C= (p.Ile231=) c.423C= (p.Ile141=) c.600C= (p.Ile200=) c.486-17151G= (n.486-17151G=) c.585C= (p.Ile195=) | |
9 | g.36246047G>T | CA464619607 | CLTA,GNE | c.693C>A (p.Ile231=) c.423C>A (p.Ile141=) c.600C>A (p.Ile200=) c.486-17151G>T (n.486-17151G>T) c.585C>A (p.Ile195=) | |
9 | g.36246048A>C | CA373417991 | CLTA,GNE | c.692T>G (p.Ile231Ser) c.422T>G (p.Ile141Ser) c.599T>G (p.Ile200Ser) c.486-17150A>C (n.486-17150A>C) c.584T>G (p.Ile195Ser) | |
9 | g.36246048A>G | CA373417993 | CLTA,GNE | c.692T>C (p.Ile231Thr) c.422T>C (p.Ile141Thr) c.599T>C (p.Ile200Thr) c.486-17150A>G (n.486-17150A>G) c.584T>C (p.Ile195Thr) | |
9 | g.36246048A>T | CA373417992 | CLTA,GNE | c.692T>A (p.Ile231Asn) c.422T>A (p.Ile141Asn) c.599T>A (p.Ile200Asn) c.486-17150A>T (n.486-17150A>T) c.584T>A (p.Ile195Asn) | |
9 | g.36246049T>A | CA5056708 | CLTA,GNE | c.691A>T (p.Ile231Phe) c.421A>T (p.Ile141Phe) c.598A>T (p.Ile200Phe) c.486-17149T>A (n.486-17149T>A) c.583A>T (p.Ile195Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.36246049T>C | CA373417994 | CLTA,GNE | c.691A>G (p.Ile231Val) c.421A>G (p.Ile141Val) c.598A>G (p.Ile200Val) c.486-17149T>C (n.486-17149T>C) c.583A>G (p.Ile195Val) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246049T>G | CA373417995 | CLTA,GNE | c.691A>C (p.Ile231Leu) c.421A>C (p.Ile141Leu) c.598A>C (p.Ile200Leu) c.486-17149T>G (n.486-17149T>G) c.583A>C (p.Ile195Leu) | |
9 | g.36246049T= | CA1846375097 | CLTA,GNE | c.691A= (p.Ile231=) c.421A= (p.Ile141=) c.598A= (p.Ile200=) c.486-17149T= (n.486-17149T=) c.583A= (p.Ile195=) | |
9 | g.36246050G>A | CA464619609 | CLTA,GNE | c.690C>T (p.Ser230=) c.420C>T (p.Ser140=) c.597C>T (p.Ser199=) c.486-17148G>A (n.486-17148G>A) c.582C>T (p.Ser194=) | ClinVar gnomAD v4 |
9 | g.36246050G>C | CA373417996 | CLTA,GNE | c.690C>G (p.Ser230Arg) c.420C>G (p.Ser140Arg) c.597C>G (p.Ser199Arg) c.486-17148G>C (n.486-17148G>C) c.582C>G (p.Ser194Arg) | |
9 | g.36246050G= | CA1846375101 | CLTA,GNE | c.690C= (p.Ser230=) c.420C= (p.Ser140=) c.597C= (p.Ser199=) c.486-17148G= (n.486-17148G=) c.582C= (p.Ser194=) | |
9 | g.36246050G>T | CA373417997 | CLTA,GNE | c.690C>A (p.Ser230Arg) c.420C>A (p.Ser140Arg) c.597C>A (p.Ser199Arg) c.486-17148G>T (n.486-17148G>T) c.582C>A (p.Ser194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.36246051C>A | CA373418000 | CLTA,GNE | c.689G>T (p.Ser230Ile) c.419G>T (p.Ser140Ile) c.596G>T (p.Ser199Ile) c.486-17147C>A (n.486-17147C>A) c.581G>T (p.Ser194Ile) | COSMIC COSMIC COSMIC |
9 | g.36246051C>G | CA373417999 | CLTA,GNE | c.689G>C (p.Ser230Thr) c.419G>C (p.Ser140Thr) c.596G>C (p.Ser199Thr) c.486-17147C>G (n.486-17147C>G) c.581G>C (p.Ser194Thr) | |
9 | g.36246051C>T | CA373417998 | CLTA,GNE | c.689G>A (p.Ser230Asn) c.419G>A (p.Ser140Asn) c.596G>A (p.Ser199Asn) c.486-17147C>T (n.486-17147C>T) c.581G>A (p.Ser194Asn) | |
9 | g.36246052T>A | CA373418001 | CLTA,GNE | c.688A>T (p.Ser230Cys) c.418A>T (p.Ser140Cys) c.595A>T (p.Ser199Cys) c.486-17146T>A (n.486-17146T>A) c.580A>T (p.Ser194Cys) | |
9 | g.36246052T>C | CA373418002 | CLTA,GNE | c.688A>G (p.Ser230Gly) c.418A>G (p.Ser140Gly) c.595A>G (p.Ser199Gly) c.486-17146T>C (n.486-17146T>C) c.580A>G (p.Ser194Gly) | gnomAD v4 |
9 | g.36246052T>G | CA373418003 | CLTA,GNE | c.688A>C (p.Ser230Arg) c.418A>C (p.Ser140Arg) c.595A>C (p.Ser199Arg) c.486-17146T>G (n.486-17146T>G) c.580A>C (p.Ser194Arg) | |
9 | g.36246053C>A | CA373418004 | CLTA,GNE | c.687G>T (p.Met229Ile) c.417G>T (p.Met139Ile) c.594G>T (p.Met198Ile) c.486-17145C>A (n.486-17145C>A) c.579G>T (p.Met193Ile) | |
9 | g.36246053C= | CA1846375105 | CLTA,GNE | c.687G= (p.Met229=) c.417G= (p.Met139=) c.594G= (p.Met198=) c.486-17145C= (n.486-17145C=) c.579G= (p.Met193=) | |
9 | g.36246053C>G | CA373418005 | CLTA,GNE | c.687G>C (p.Met229Ile) c.417G>C (p.Met139Ile) c.594G>C (p.Met198Ile) c.486-17145C>G (n.486-17145C>G) c.579G>C (p.Met193Ile) | |
9 | g.36246053C>T | CA373418006 | CLTA,GNE | c.687G>A (p.Met229Ile) c.417G>A (p.Met139Ile) c.594G>A (p.Met198Ile) c.486-17145C>T (n.486-17145C>T) c.579G>A (p.Met193Ile) | ClinVar dbSNP |
9 | g.36246054A= | CA1846375111 | CLTA,GNE | c.686T= (p.Met229=) c.416T= (p.Met139=) c.593T= (p.Met198=) c.486-17144A= (n.486-17144A=) c.578T= (p.Met193=) | |
9 | g.36246054A>C | CA373418007 | CLTA,GNE | c.686T>G (p.Met229Arg) c.416T>G (p.Met139Arg) c.593T>G (p.Met198Arg) c.486-17144A>C (n.486-17144A>C) c.578T>G (p.Met193Arg) | dbSNP gnomAD v4 |
9 | g.36246054A>G | CA5056709 | CLTA,GNE | c.686T>C (p.Met229Thr) c.416T>C (p.Met139Thr) c.593T>C (p.Met198Thr) c.486-17144A>G (n.486-17144A>G) c.578T>C (p.Met193Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
9 | g.36246054A>T | CA373418008 | CLTA,GNE | c.686T>A (p.Met229Lys) c.416T>A (p.Met139Lys) c.593T>A (p.Met198Lys) c.486-17144A>T (n.486-17144A>T) c.578T>A (p.Met193Lys) | gnomAD v4 |
9 | g.36246055T>A | CA373418009 | CLTA,GNE | c.685A>T (p.Met229Leu) c.415A>T (p.Met139Leu) c.592A>T (p.Met198Leu) c.486-17143T>A (n.486-17143T>A) c.577A>T (p.Met193Leu) | |
9 | g.36246055T>C | CA373418010 | CLTA,GNE | c.685A>G (p.Met229Val) c.415A>G (p.Met139Val) c.592A>G (p.Met198Val) c.486-17143T>C (n.486-17143T>C) c.577A>G (p.Met193Val) | gnomAD v2 gnomAD v4 |
9 | g.36246055T>G | CA373418011 | CLTA,GNE | c.685A>C (p.Met229Leu) c.415A>C (p.Met139Leu) c.592A>C (p.Met198Leu) c.486-17143T>G (n.486-17143T>G) c.577A>C (p.Met193Leu) | |
9 | g.36246056G>A | CA464619629 | CLTA,GNE | c.684C>T (p.Tyr228=) c.414C>T (p.Tyr138=) c.591C>T (p.Tyr197=) c.486-17142G>A (n.486-17142G>A) c.576C>T (p.Tyr192=) | ClinVar dbSNP |
9 | g.36246056G>C | CA373418012 | CLTA,GNE | c.684C>G (p.Tyr228Ter) c.414C>G (p.Tyr138Ter) c.591C>G (p.Tyr197Ter) c.486-17142G>C (n.486-17142G>C) c.576C>G (p.Tyr192Ter) | |
9 | g.36246056G>T | CA373418013 | CLTA,GNE | c.684C>A (p.Tyr228Ter) c.414C>A (p.Tyr138Ter) c.591C>A (p.Tyr197Ter) c.486-17142G>T (n.486-17142G>T) c.576C>A (p.Tyr192Ter) | |
9 | g.36246057T>A | CA373418014 | CLTA,GNE | c.683A>T (p.Tyr228Phe) c.413A>T (p.Tyr138Phe) c.590A>T (p.Tyr197Phe) c.486-17141T>A (n.486-17141T>A) c.575A>T (p.Tyr192Phe) | |
9 | g.36246057T>C | CA373418015 | CLTA,GNE | c.683A>G (p.Tyr228Cys) c.413A>G (p.Tyr138Cys) c.590A>G (p.Tyr197Cys) c.486-17141T>C (n.486-17141T>C) c.575A>G (p.Tyr192Cys) | gnomAD v4 |
9 | g.36246057T>G | CA373418016 | CLTA,GNE | c.683A>C (p.Tyr228Ser) c.413A>C (p.Tyr138Ser) c.590A>C (p.Tyr197Ser) c.486-17141T>G (n.486-17141T>G) c.575A>C (p.Tyr192Ser) | |
9 | g.36246058A>C | CA373418017 | CLTA,GNE | c.682T>G (p.Tyr228Asp) c.412T>G (p.Tyr138Asp) c.589T>G (p.Tyr197Asp) c.486-17140A>C (n.486-17140A>C) c.574T>G (p.Tyr192Asp) | |
9 | g.36246058A>G | CA373418018 | CLTA,GNE | c.682T>C (p.Tyr228His) c.412T>C (p.Tyr138His) c.589T>C (p.Tyr197His) c.486-17140A>G (n.486-17140A>G) c.574T>C (p.Tyr192His) | |
9 | g.36246058A>T | CA373418019 | CLTA,GNE | c.682T>A (p.Tyr228Asn) c.412T>A (p.Tyr138Asn) c.589T>A (p.Tyr197Asn) c.486-17140A>T (n.486-17140A>T) c.574T>A (p.Tyr192Asn) | |
9 | g.36246059G>A | CA464619634 | CLTA,GNE | c.681C>T (p.Asp227=) c.411C>T (p.Asp137=) c.588C>T (p.Asp196=) c.486-17139G>A (n.486-17139G>A) c.573C>T (p.Asp191=) | ClinVar |
9 | g.36246059G>C | CA373418020 | CLTA,GNE | c.681C>G (p.Asp227Glu) c.411C>G (p.Asp137Glu) c.588C>G (p.Asp196Glu) c.486-17139G>C (n.486-17139G>C) c.573C>G (p.Asp191Glu) | |
9 | g.36246059G>T | CA373418021 | CLTA,GNE | c.681C>A (p.Asp227Glu) c.411C>A (p.Asp137Glu) c.588C>A (p.Asp196Glu) c.486-17139G>T (n.486-17139G>T) c.573C>A (p.Asp191Glu) | |
9 | g.36246059dup | CA2689947822 | CLTA,GNE | c.681dup (p.Tyr228LeufsTer11) c.411dup (p.Tyr138LeufsTer11) c.588dup (p.Tyr197LeufsTer11) c.486-17139dup (n.486-17139dup) c.411dup (p.Tyr138LeufsTer24) c.573dup (p.Tyr192LeufsTer11) c.681dup (p.Tyr228LeufsTer24) c.588dup (p.Tyr197LeufsTer24) | gnomAD v4 |
9 | g.36246060T>A | CA373418022 | CLTA,GNE | c.680A>T (p.Asp227Val) c.410A>T (p.Asp137Val) c.587A>T (p.Asp196Val) c.486-17138T>A (n.486-17138T>A) c.572A>T (p.Asp191Val) | |
9 | g.36246060T>C | CA373418024 | CLTA,GNE | c.680A>G (p.Asp227Gly) c.410A>G (p.Asp137Gly) c.587A>G (p.Asp196Gly) c.486-17138T>C (n.486-17138T>C) c.572A>G (p.Asp191Gly) | |
9 | g.36246060T>G | CA373418023 | CLTA,GNE | c.680A>C (p.Asp227Ala) c.410A>C (p.Asp137Ala) c.587A>C (p.Asp196Ala) c.486-17138T>G (n.486-17138T>G) c.572A>C (p.Asp191Ala) | |
9 | g.36246061C>A | CA373418025 | CLTA,GNE | c.679G>T (p.Asp227Tyr) c.409G>T (p.Asp137Tyr) c.586G>T (p.Asp196Tyr) c.486-17137C>A (n.486-17137C>A) c.571G>T (p.Asp191Tyr) | |
9 | g.36246061C>G | CA373418026 | CLTA,GNE | c.679G>C (p.Asp227His) c.409G>C (p.Asp137His) c.586G>C (p.Asp196His) c.486-17137C>G (n.486-17137C>G) c.571G>C (p.Asp191His) | ClinVar dbSNP |
9 | g.36246061C>T | CA373418027 | CLTA,GNE | c.679G>A (p.Asp227Asn) c.409G>A (p.Asp137Asn) c.586G>A (p.Asp196Asn) c.486-17137C>T (n.486-17137C>T) c.571G>A (p.Asp191Asn) | |
9 | g.36246062T>A | CA373418028 | CLTA,GNE | c.678A>T (p.Lys226Asn) c.408A>T (p.Lys136Asn) c.585A>T (p.Lys195Asn) c.486-17136T>A (n.486-17136T>A) c.570A>T (p.Lys190Asn) | |
9 | g.36246062T>C | CA464619643 | CLTA,GNE | c.678A>G (p.Lys226=) c.408A>G (p.Lys136=) c.585A>G (p.Lys195=) c.486-17136T>C (n.486-17136T>C) c.570A>G (p.Lys190=) | |
9 | g.36246062T>G | CA373418029 | CLTA,GNE | c.678A>C (p.Lys226Asn) c.408A>C (p.Lys136Asn) c.585A>C (p.Lys195Asn) c.486-17136T>G (n.486-17136T>G) c.570A>C (p.Lys190Asn) | |
9 | g.36246063T>A | CA373418030 | CLTA,GNE | c.677A>T (p.Lys226Ile) c.407A>T (p.Lys136Ile) c.584A>T (p.Lys195Ile) c.486-17135T>A (n.486-17135T>A) c.569A>T (p.Lys190Ile) | |
9 | g.36246063T>C | CA373418031 | CLTA,GNE | c.677A>G (p.Lys226Arg) c.407A>G (p.Lys136Arg) c.584A>G (p.Lys195Arg) c.486-17135T>C (n.486-17135T>C) c.569A>G (p.Lys190Arg) | |
9 | g.36246063T>G | CA373418032 | CLTA,GNE | c.677A>C (p.Lys226Thr) c.407A>C (p.Lys136Thr) c.584A>C (p.Lys195Thr) c.486-17135T>G (n.486-17135T>G) c.569A>C (p.Lys190Thr) | |
9 | g.36246064T>A | CA373418033 | CLTA,GNE | c.676A>T (p.Lys226Ter) c.406A>T (p.Lys136Ter) c.583A>T (p.Lys195Ter) c.486-17134T>A (n.486-17134T>A) c.568A>T (p.Lys190Ter) | |
9 | g.36246064T>C | CA373418034 | CLTA,GNE | c.676A>G (p.Lys226Glu) c.406A>G (p.Lys136Glu) c.583A>G (p.Lys195Glu) c.486-17134T>C (n.486-17134T>C) c.568A>G (p.Lys190Glu) | dbSNP |
9 | g.36246064T>G | CA373418035 | CLTA,GNE | c.676A>C (p.Lys226Gln) c.406A>C (p.Lys136Gln) c.583A>C (p.Lys195Gln) c.486-17134T>G (n.486-17134T>G) c.568A>C (p.Lys190Gln) | |
9 | g.36246064T= | CA1846375117 | CLTA,GNE | c.676A= (p.Lys226=) c.406A= (p.Lys136=) c.583A= (p.Lys195=) c.486-17134T= (n.486-17134T=) c.568A= (p.Lys190=) | |
9 | g.36246065G>A | CA5056710 | CLTA,GNE | c.675C>T (p.Asn225=) c.405C>T (p.Asn135=) c.582C>T (p.Asn194=) c.486-17133G>A (n.486-17133G>A) c.567C>T (p.Asn189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.36246065G>C | CA373418038 | CLTA,GNE | c.675C>G (p.Asn225Lys) c.405C>G (p.Asn135Lys) c.582C>G (p.Asn194Lys) c.486-17133G>C (n.486-17133G>C) c.567C>G (p.Asn189Lys) | |
9 | g.36246065G= | CA1846375124 | CLTA,GNE | c.675C= (p.Asn225=) c.405C= (p.Asn135=) c.582C= (p.Asn194=) c.486-17133G= (n.486-17133G=) c.567C= (p.Asn189=) | |
9 | g.36246065G>T | CA373418040 | CLTA,GNE | c.675C>A (p.Asn225Lys) c.405C>A (p.Asn135Lys) c.582C>A (p.Asn194Lys) c.486-17133G>T (n.486-17133G>T) c.567C>A (p.Asn189Lys) | |
9 | g.36246066T>A | CA373418043 | CLTA,GNE | c.674A>T (p.Asn225Ile) c.404A>T (p.Asn135Ile) c.581A>T (p.Asn194Ile) c.486-17132T>A (n.486-17132T>A) c.566A>T (p.Asn189Ile) | |
9 | g.36246066T>C | CA373418045 | CLTA,GNE | c.674A>G (p.Asn225Ser) c.404A>G (p.Asn135Ser) c.581A>G (p.Asn194Ser) c.486-17132T>C (n.486-17132T>C) c.566A>G (p.Asn189Ser) | |
9 | g.36246066T>G | CA373418046 | CLTA,GNE | c.674A>C (p.Asn225Thr) c.404A>C (p.Asn135Thr) c.581A>C (p.Asn194Thr) c.486-17132T>G (n.486-17132T>G) c.566A>C (p.Asn189Thr) | dbSNP |
9 | g.36246066T= | CA1846375129 | CLTA,GNE | c.674A= (p.Asn225=) c.404A= (p.Asn135=) c.581A= (p.Asn194=) c.486-17132T= (n.486-17132T=) c.566A= (p.Asn189=) | |
9 | g.36246067del | CA2695210604 | CLTA,GNE | c.674del (p.Asn225ThrfsTer5) c.404del (p.Asn135ThrfsTer5) c.581del (p.Asn194ThrfsTer5) c.486-17131del (n.486-17131del) c.566del (p.Asn189ThrfsTer5) | |
9 | g.36246067T>A | CA373418049 | CLTA,GNE | c.673A>T (p.Asn225Tyr) c.403A>T (p.Asn135Tyr) c.580A>T (p.Asn194Tyr) c.486-17131T>A (n.486-17131T>A) c.565A>T (p.Asn189Tyr) | |
9 | g.36246067T>C | CA373418051 | CLTA,GNE | c.673A>G (p.Asn225Asp) c.403A>G (p.Asn135Asp) c.580A>G (p.Asn194Asp) c.486-17131T>C (n.486-17131T>C) c.565A>G (p.Asn189Asp) | |
9 | g.36246067T>G | CA373418053 | CLTA,GNE | c.673A>C (p.Asn225His) c.403A>C (p.Asn135His) c.580A>C (p.Asn194His) c.486-17131T>G (n.486-17131T>G) c.565A>C (p.Asn189His) | |
9 | g.36246068C>A | CA373418055 | CLTA,GNE | c.672G>T (p.Lys224Asn) c.402G>T (p.Lys134Asn) c.579G>T (p.Lys193Asn) c.486-17130C>A (n.486-17130C>A) c.564G>T (p.Lys188Asn) | |
9 | g.36246068C>G | CA373418056 | CLTA,GNE | c.672G>C (p.Lys224Asn) c.402G>C (p.Lys134Asn) c.579G>C (p.Lys193Asn) c.486-17130C>G (n.486-17130C>G) c.564G>C (p.Lys188Asn) | |
9 | g.36246068C>T | CA464619657 | CLTA,GNE | c.672G>A (p.Lys224=) c.402G>A (p.Lys134=) c.579G>A (p.Lys193=) c.486-17130C>T (n.486-17130C>T) c.564G>A (p.Lys188=) | |
9 | g.36246069T>A | CA373418059 | CLTA,GNE | c.671A>T (p.Lys224Met) c.401A>T (p.Lys134Met) c.578A>T (p.Lys193Met) c.486-17129T>A (n.486-17129T>A) c.563A>T (p.Lys188Met) | |
9 | g.36246069T>C | CA373418061 | CLTA,GNE | c.671A>G (p.Lys224Arg) c.401A>G (p.Lys134Arg) c.578A>G (p.Lys193Arg) c.486-17129T>C (n.486-17129T>C) c.563A>G (p.Lys188Arg) | |
9 | g.36246069T>G | CA373418063 | CLTA,GNE | c.671A>C (p.Lys224Thr) c.401A>C (p.Lys134Thr) c.578A>C (p.Lys193Thr) c.486-17129T>G (n.486-17129T>G) c.563A>C (p.Lys188Thr) | |
9 | g.36246070T>A | CA373418067 | CLTA,GNE | c.670A>T (p.Lys224Ter) c.400A>T (p.Lys134Ter) c.577A>T (p.Lys193Ter) c.486-17128T>A (n.486-17128T>A) c.562A>T (p.Lys188Ter) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246070T>C | CA373418069 | CLTA,GNE | c.670A>G (p.Lys224Glu) c.400A>G (p.Lys134Glu) c.577A>G (p.Lys193Glu) c.486-17128T>C (n.486-17128T>C) c.562A>G (p.Lys188Glu) | |
9 | g.36246070T>G | CA373418065 | CLTA,GNE | c.670A>C (p.Lys224Gln) c.400A>C (p.Lys134Gln) c.577A>C (p.Lys193Gln) c.486-17128T>G (n.486-17128T>G) c.562A>C (p.Lys188Gln) | |
9 | g.36246070T= | CA1846375135 | CLTA,GNE | c.670A= (p.Lys224=) c.400A= (p.Lys134=) c.577A= (p.Lys193=) c.486-17128T= (n.486-17128T=) c.562A= (p.Lys188=) | |
9 | g.36246071G>A | CA464619661 | CLTA,GNE | c.669C>T (p.Ala223=) c.399C>T (p.Ala133=) c.576C>T (p.Ala192=) c.486-17127G>A (n.486-17127G>A) c.561C>T (p.Ala187=) | |
9 | g.36246071G>C | CA464619663 | CLTA,GNE | c.669C>G (p.Ala223=) c.399C>G (p.Ala133=) c.576C>G (p.Ala192=) c.486-17127G>C (n.486-17127G>C) c.561C>G (p.Ala187=) | |
9 | g.36246071G>T | CA464619664 | CLTA,GNE | c.669C>A (p.Ala223=) c.399C>A (p.Ala133=) c.576C>A (p.Ala192=) c.486-17127G>T (n.486-17127G>T) c.561C>A (p.Ala187=) | |
9 | g.36246072G>A | CA373418071 | CLTA,GNE | c.668C>T (p.Ala223Val) c.398C>T (p.Ala133Val) c.575C>T (p.Ala192Val) c.486-17126G>A (n.486-17126G>A) c.560C>T (p.Ala187Val) | dbSNP gnomAD v4 |
9 | g.36246072G>C | CA373418073 | CLTA,GNE | c.668C>G (p.Ala223Gly) c.398C>G (p.Ala133Gly) c.575C>G (p.Ala192Gly) c.486-17126G>C (n.486-17126G>C) c.560C>G (p.Ala187Gly) | |
9 | g.36246072G= | CA1846375142 | CLTA,GNE | c.668C= (p.Ala223=) c.398C= (p.Ala133=) c.575C= (p.Ala192=) c.486-17126G= (n.486-17126G=) c.560C= (p.Ala187=) | |
9 | g.36246072G>T | CA373418075 | CLTA,GNE | c.668C>A (p.Ala223Asp) c.398C>A (p.Ala133Asp) c.575C>A (p.Ala192Asp) c.486-17126G>T (n.486-17126G>T) c.560C>A (p.Ala187Asp) | |
9 | g.36246073C>A | CA373418078 | CLTA,GNE | c.667G>T (p.Ala223Ser) c.397G>T (p.Ala133Ser) c.574G>T (p.Ala192Ser) c.486-17125C>A (n.486-17125C>A) c.559G>T (p.Ala187Ser) | |
9 | g.36246073C= | CA1846375145 | CLTA,GNE | c.667G= (p.Ala223=) c.397G= (p.Ala133=) c.574G= (p.Ala192=) c.486-17125C= (n.486-17125C=) c.559G= (p.Ala187=) | |
9 | g.36246073C>G | CA373418079 | CLTA,GNE | c.667G>C (p.Ala223Pro) c.397G>C (p.Ala133Pro) c.574G>C (p.Ala192Pro) c.486-17125C>G (n.486-17125C>G) c.559G>C (p.Ala187Pro) | |
9 | g.36246073C>T | CA373418081 | CLTA,GNE | c.667G>A (p.Ala223Thr) c.397G>A (p.Ala133Thr) c.574G>A (p.Ala192Thr) c.486-17125C>T (n.486-17125C>T) c.559G>A (p.Ala187Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC |
9 | g.36246074T>A | CA464619668 | CLTA,GNE | c.666A>T (p.Ser222=) c.396A>T (p.Ser132=) c.573A>T (p.Ser191=) c.486-17124T>A (n.486-17124T>A) c.558A>T (p.Ser186=) | |
9 | g.36246074T>C | CA464619669 | CLTA,GNE | c.666A>G (p.Ser222=) c.396A>G (p.Ser132=) c.573A>G (p.Ser191=) c.486-17124T>C (n.486-17124T>C) c.558A>G (p.Ser186=) | |
9 | g.36246074T>G | CA464619670 | CLTA,GNE | c.666A>C (p.Ser222=) c.396A>C (p.Ser132=) c.573A>C (p.Ser191=) c.486-17124T>G (n.486-17124T>G) c.558A>C (p.Ser186=) | |
9 | g.36246075G>A | CA373418084 | CLTA,GNE | c.665C>T (p.Ser222Leu) c.395C>T (p.Ser132Leu) c.572C>T (p.Ser191Leu) c.486-17123G>A (n.486-17123G>A) c.557C>T (p.Ser186Leu) | gnomAD v4 |
9 | g.36246075G>C | CA373418085 | CLTA,GNE | c.665C>G (p.Ser222Ter) c.395C>G (p.Ser132Ter) c.572C>G (p.Ser191Ter) c.486-17123G>C (n.486-17123G>C) c.557C>G (p.Ser186Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.36246075G= | CA1846375151 | CLTA,GNE | c.665C= (p.Ser222=) c.395C= (p.Ser132=) c.572C= (p.Ser191=) c.486-17123G= (n.486-17123G=) c.557C= (p.Ser186=) | |
9 | g.36246075G>T | CA373418087 | CLTA,GNE | c.665C>A (p.Ser222Ter) c.395C>A (p.Ser132Ter) c.572C>A (p.Ser191Ter) c.486-17123G>T (n.486-17123G>T) c.557C>A (p.Ser186Ter) | |
9 | g.36246079_36246080del | CA2831039508 | CLTA,GNE | c.664_665del (p.Ala223GlnfsTer15) c.394_395del (p.Ala133GlnfsTer15) c.571_572del (p.Ala192GlnfsTer15) c.486-17119_486-17118del (n.486-17119_486-17118del) c.394_395del (p.Ala133GlnfsTer28) c.556_557del (p.Ala187GlnfsTer15) c.664_665del (p.Ala223GlnfsTer28) c.571_572del (p.Ala192GlnfsTer28) | |
9 | g.36246076A>C | CA373418090 | CLTA,GNE | c.664T>G (p.Ser222Ala) c.394T>G (p.Ser132Ala) c.571T>G (p.Ser191Ala) c.486-17122A>C (n.486-17122A>C) c.556T>G (p.Ser186Ala) | |
9 | g.36246076A>G | CA373418091 | CLTA,GNE | c.664T>C (p.Ser222Pro) c.394T>C (p.Ser132Pro) c.571T>C (p.Ser191Pro) c.486-17122A>G (n.486-17122A>G) c.556T>C (p.Ser186Pro) | gnomAD v4 |
9 | g.36246076A>T | CA373418093 | CLTA,GNE | c.664T>A (p.Ser222Thr) c.394T>A (p.Ser132Thr) c.571T>A (p.Ser191Thr) c.486-17122A>T (n.486-17122A>T) c.556T>A (p.Ser186Thr) | |
9 | g.36246077G>A | CA464619673 | CLTA,GNE | c.663C>T (p.Leu221=) c.393C>T (p.Leu131=) c.570C>T (p.Leu190=) c.486-17121G>A (n.486-17121G>A) c.555C>T (p.Leu185=) | |
9 | g.36246077G>C | CA464619674 | CLTA,GNE | c.663C>G (p.Leu221=) c.393C>G (p.Leu131=) c.570C>G (p.Leu190=) c.486-17121G>C (n.486-17121G>C) c.555C>G (p.Leu185=) | gnomAD v4 |
9 | g.36246077G>T | CA464619676 | CLTA,GNE | c.663C>A (p.Leu221=) c.393C>A (p.Leu131=) c.570C>A (p.Leu190=) c.486-17121G>T (n.486-17121G>T) c.555C>A (p.Leu185=) | |
9 | g.36246078A>C | CA373418097 | CLTA,GNE | c.662T>G (p.Leu221Arg) c.392T>G (p.Leu131Arg) c.569T>G (p.Leu190Arg) c.486-17120A>C (n.486-17120A>C) c.554T>G (p.Leu185Arg) | |
9 | g.36246078A>G | CA373418100 | CLTA,GNE | c.662T>C (p.Leu221Pro) c.392T>C (p.Leu131Pro) c.569T>C (p.Leu190Pro) c.486-17120A>G (n.486-17120A>G) c.554T>C (p.Leu185Pro) | |
9 | g.36246078A>T | CA373418096 | CLTA,GNE | c.662T>A (p.Leu221His) c.392T>A (p.Leu131His) c.569T>A (p.Leu190His) c.486-17120A>T (n.486-17120A>T) c.554T>A (p.Leu185His) | |
9 | g.36246079G>A | CA10604401 | CLTA,GNE | c.661C>T (p.Leu221Phe) c.391C>T (p.Leu131Phe) c.568C>T (p.Leu190Phe) c.486-17119G>A (n.486-17119G>A) c.553C>T (p.Leu185Phe) | ClinVar dbSNP |
9 | g.36246079G>C | CA373418103 | CLTA,GNE | c.661C>G (p.Leu221Val) c.391C>G (p.Leu131Val) c.568C>G (p.Leu190Val) c.486-17119G>C (n.486-17119G>C) c.553C>G (p.Leu185Val) | |
9 | g.36246079G= | CA1846375174 | CLTA,GNE | c.661C= (p.Leu221=) c.391C= (p.Leu131=) c.568C= (p.Leu190=) c.486-17119G= (n.486-17119G=) c.553C= (p.Leu185=) | |
9 | g.36246079G>T | CA373418105 | CLTA,GNE | c.661C>A (p.Leu221Ile) c.391C>A (p.Leu131Ile) c.568C>A (p.Leu190Ile) c.486-17119G>T (n.486-17119G>T) c.553C>A (p.Leu185Ile) | |
9 | g.36246080A>C | CA464619683 | CLTA,GNE | c.660T>G (p.Leu220=) c.390T>G (p.Leu130=) c.567T>G (p.Leu189=) c.486-17118A>C (n.486-17118A>C) c.552T>G (p.Leu184=) | |
9 | g.36246080A>G | CA464619685 | CLTA,GNE | c.660T>C (p.Leu220=) c.390T>C (p.Leu130=) c.567T>C (p.Leu189=) c.486-17118A>G (n.486-17118A>G) c.552T>C (p.Leu184=) | |
9 | g.36246080A>T | CA464619687 | CLTA,GNE | c.660T>A (p.Leu220=) c.390T>A (p.Leu130=) c.567T>A (p.Leu189=) c.486-17118A>T (n.486-17118A>T) c.552T>A (p.Leu184=) |