Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.84203123G>A | CA5579673 | CDHR1 | c.783G>A (p.Pro261=) c.163G>A c.957G>A (p.Pro319=) c.404G>A (p.Arg135His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.84203123G>C | CA5579674 | CDHR1 | c.783G>C (p.Pro261=) c.163G>C c.957G>C (p.Pro319=) c.404G>C (p.Arg135Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.84203123G= | CA1924448092 | CDHR1 | c.783G= (p.Pro261=) c.163G= c.957G= (p.Pro319=) c.404G= (p.Arg135=) | |
10 | g.84203123G>T | CA470503881 | CDHR1 | c.783G>T (p.Pro261=) c.163G>T c.957G>T (p.Pro319=) c.404G>T (p.Arg135Leu) | dbSNP |
10 | g.84203124G>A | CA377372822 | CDHR1 | c.783+1G>A (n.783+1G>A) c.163+1G>A c.957+1G>A (n.957+1G>A) c.404+1G>A (n.404+1G>A) | dbSNP |
10 | g.84203124G>C | CA377372824 | CDHR1 | c.783+1G>C (n.783+1G>C) c.163+1G>C c.957+1G>C (n.957+1G>C) c.404+1G>C (n.404+1G>C) | |
10 | g.84203124G= | CA1924448093 | CDHR1 | c.783+1G= (n.783+1G=) c.163+1G= c.957+1G= (n.957+1G=) c.404+1G= (n.404+1G=) | |
10 | g.84203124G>T | CA377372823 | CDHR1 | c.783+1G>T (n.783+1G>T) c.163+1G>T c.957+1G>T (n.957+1G>T) c.404+1G>T (n.404+1G>T) | |
10 | g.84203125T>A | CA377372825 | CDHR1 | c.783+2T>A (n.783+2T>A) c.163+2T>A c.957+2T>A (n.957+2T>A) c.404+2T>A (n.404+2T>A) | |
10 | g.84203125T>C | CA377372826 | CDHR1 | c.783+2T>C (n.783+2T>C) c.163+2T>C c.957+2T>C (n.957+2T>C) c.404+2T>C (n.404+2T>C) | gnomAD v4 |
10 | g.84203125T>G | CA377372827 | CDHR1 | c.783+2T>G (n.783+2T>G) c.163+2T>G c.957+2T>G (n.957+2T>G) c.404+2T>G (n.404+2T>G) | |
10 | g.84203126G>A | CA10632609 | CDHR1 | c.783+3G>A (n.783+3G>A) c.163+3G>A c.957+3G>A (n.957+3G>A) c.404+3G>A (n.404+3G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.84203126G= | CA1924448094 | CDHR1 | c.783+3G= (n.783+3G=) c.163+3G= c.957+3G= (n.957+3G=) c.404+3G= (n.404+3G=) | |
10 | g.84203126G>T | CA5579675 | CDHR1 | c.783+3G>T (n.783+3G>T) c.163+3G>T c.957+3G>T (n.957+3G>T) c.404+3G>T (n.404+3G>T) | dbSNP ExAC gnomAD v2 |
10 | g.84203127G>A | CA2609953628 | CDHR1 | c.783+4G>A (n.783+4G>A) c.163+4G>A c.957+4G>A (n.957+4G>A) c.404+4G>A (n.404+4G>A) | gnomAD v4 |
10 | g.84203128G>A | CA2580082060 | CDHR1 | c.783+5G>A (n.783+5G>A) c.163+5G>A c.957+5G>A (n.957+5G>A) c.404+5G>A (n.404+5G>A) | ClinVar gnomAD v4 |
10 | g.84203128G>T | CA2609953629 | CDHR1 | c.783+5G>T (n.783+5G>T) c.163+5G>T c.957+5G>T (n.957+5G>T) c.404+5G>T (n.404+5G>T) | gnomAD v4 |
10 | g.84203132C= | CA1924448095 | CDHR1 | c.783+9C= (n.783+9C=) c.163+9C= c.957+9C= (n.957+9C=) c.404+9C= (n.404+9C=) | |
10 | g.84203132C>T | CA210380847 | CDHR1 | c.783+9C>T (n.783+9C>T) c.163+9C>T c.957+9C>T (n.957+9C>T) c.404+9C>T (n.404+9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.84203132_84203133insACA | CA2788799780 | CDHR1 | c.783+9_783+10insACA (n.783+9_783+10insACA) c.163+9_163+10insACA c.957+9_957+10insACA (n.957+9_957+10insACA) c.404+9_404+10insACA (n.404+9_404+10insACA) | |
10 | g.84203134G>A | CA5579676 | CDHR1 | c.783+11G>A (n.783+11G>A) c.163+11G>A c.957+11G>A (n.957+11G>A) c.404+11G>A (n.404+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.84203134G>C | CA669262974 | CDHR1 | c.783+11G>C (n.783+11G>C) c.163+11G>C c.957+11G>C (n.957+11G>C) c.404+11G>C (n.404+11G>C) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.84203134G= | CA1924448096 | CDHR1 | c.783+11G= (n.783+11G=) c.163+11G= c.957+11G= (n.957+11G=) c.404+11G= (n.404+11G=) | |
10 | g.84203135T>C | CA210380851 | CDHR1 | c.783+12T>C (n.783+12T>C) c.163+12T>C c.957+12T>C (n.957+12T>C) c.404+12T>C (n.404+12T>C) | dbSNP |
10 | g.84203135T= | CA1924448097 | CDHR1 | c.783+12T= (n.783+12T=) c.163+12T= c.957+12T= (n.957+12T=) c.404+12T= (n.404+12T=) | |
10 | g.84203136C>A | CA2609953630 | CDHR1 | c.783+13C>A (n.783+13C>A) c.163+13C>A c.957+13C>A (n.957+13C>A) c.404+13C>A (n.404+13C>A) | gnomAD v4 |
10 | g.84203136C= | CA1924448098 | CDHR1 | c.783+13C= (n.783+13C=) c.163+13C= c.957+13C= (n.957+13C=) c.404+13C= (n.404+13C=) | |
10 | g.84203136C>G | CA5579678 | CDHR1 | c.783+13C>G (n.783+13C>G) c.163+13C>G c.957+13C>G (n.957+13C>G) c.404+13C>G (n.404+13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.84203136C>T | CA2609953631 | CDHR1 | c.783+13C>T (n.783+13C>T) c.163+13C>T c.957+13C>T (n.957+13C>T) c.404+13C>T (n.404+13C>T) | gnomAD v4 |
10 | g.84203140dup | CA5579677 | CDHR1 | c.783+17dup (n.783+17dup) c.163+17dup c.957+17dup (n.957+17dup) c.404+17dup (n.404+17dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.84203137C>A | CA210380857 | CDHR1 | c.783+14C>A (n.783+14C>A) c.163+14C>A c.957+14C>A (n.957+14C>A) c.404+14C>A (n.404+14C>A) | dbSNP gnomAD v4 |
10 | g.84203137C= | CA1924448099 | CDHR1 | c.783+14C= (n.783+14C=) c.163+14C= c.957+14C= (n.957+14C=) c.404+14C= (n.404+14C=) | |
10 | g.84203137_84203144delinsCCCCTCAG | CA1924448100 | CDHR1 | c.783+14_783+21delinsCCCCTCAG (n.783+14_783+21delinsCCCCTCAG) c.163+14_163+21delinsCCCCTCAG c.957+14_957+21delinsCCCCTCAG (n.957+14_957+21delinsCCCCTCAG) c.404+14_404+21delinsCCCCTCAG (n.404+14_404+21delinsCCCCTCAG) | |
10 | g.84203138C>A | CA669262977 | CDHR1 | c.783+15C>A (n.783+15C>A) c.163+15C>A c.957+15C>A (n.957+15C>A) c.404+15C>A (n.404+15C>A) | dbSNP |
10 | g.84203138C= | CA1924448101 | CDHR1 | c.783+15C= (n.783+15C=) c.163+15C= c.957+15C= (n.957+15C=) c.404+15C= (n.404+15C=) | |
10 | g.84203138C>T | CA2609953633 | CDHR1 | c.783+15C>T (n.783+15C>T) c.163+15C>T c.957+15C>T (n.957+15C>T) c.404+15C>T (n.404+15C>T) | gnomAD v4 |
10 | g.84203140_84203146del | CA930659984 | CDHR1 | c.783+17_783+23del (n.783+17_783+23del) c.163+17_163+23del c.957+17_957+23del (n.957+17_957+23del) c.404+17_404+23del (n.404+17_404+23del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.84203143_84203157del | CA2609953632 | CDHR1 | c.783+20_783+34del (n.783+20_783+34del) c.163+20_163+34del c.957+20_957+34del (n.957+20_957+34del) c.404+20_404+34del (n.404+20_404+34del) | gnomAD v4 |
10 | g.84203139C= | CA1924448102 | CDHR1 | c.783+16C= (n.783+16C=) c.163+16C= c.957+16C= (n.957+16C=) c.404+16C= (n.404+16C=) | |
10 | g.84203139C>T | CA5579679 | CDHR1 | c.783+16C>T (n.783+16C>T) c.163+16C>T c.957+16C>T (n.957+16C>T) c.404+16C>T (n.404+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.84203140C>A | CA2574597425 | CDHR1 | c.783+17C>A (n.783+17C>A) c.163+17C>A c.957+17C>A (n.957+17C>A) c.404+17C>A (n.404+17C>A) | |
10 | g.84203140C= | CA1924448103 | CDHR1 | c.783+17C= (n.783+17C=) c.163+17C= c.957+17C= (n.957+17C=) c.404+17C= (n.404+17C=) | |
10 | g.84203140C>G | CA1924448104 | CDHR1 | c.783+17C>G (n.783+17C>G) c.163+17C>G c.957+17C>G (n.957+17C>G) c.404+17C>G (n.404+17C>G) | dbSNP |
10 | g.84203140C>T | CA2609953634 | CDHR1 | c.783+17C>T (n.783+17C>T) c.163+17C>T c.957+17C>T (n.957+17C>T) c.404+17C>T (n.404+17C>T) | gnomAD v4 |
10 | g.84203142C>T | CA2609953635 | CDHR1 | c.783+19C>T (n.783+19C>T) c.163+19C>T c.957+19C>T (n.957+19C>T) c.404+19C>T (n.404+19C>T) | gnomAD v4 |
10 | g.84203144G>A | CA2609953636 | CDHR1 | c.783+21G>A (n.783+21G>A) c.163+21G>A c.957+21G>A (n.957+21G>A) c.404+21G>A (n.404+21G>A) | gnomAD v4 |
10 | g.84203145_84203146insA | CA2788799781 | CDHR1 | c.783+22_783+23insA (n.783+22_783+23insA) c.163+22_163+23insA c.957+22_957+23insA (n.957+22_957+23insA) c.404+22_404+23insA (n.404+22_404+23insA) | |
10 | g.84203147A= | CA1924448105 | CDHR1 | c.783+24A= (n.783+24A=) c.163+24A= c.957+24A= (n.957+24A=) c.404+24A= (n.404+24A=) | |
10 | g.84203147A>C | CA5579680 | CDHR1 | c.783+24A>C (n.783+24A>C) c.163+24A>C c.957+24A>C (n.957+24A>C) c.404+24A>C (n.404+24A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.84203148G>A | CA2609953637 | CDHR1 | c.783+25G>A (n.783+25G>A) c.163+25G>A c.957+25G>A (n.957+25G>A) c.404+25G>A (n.404+25G>A) | gnomAD v4 |