| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21844455del | CA6481131 | ABCC9 | c.3315+32del (n.3315+32del) n.892+32del c.*2413+32del (n.*2413+32del) n.2816+32del c.3264+32del (n.3264+32del) c.2196+32del (n.2196+32del) c.3276+32del (n.3276+32del) c.3174+32del (n.3174+32del) c.2448+32del (n.2448+32del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844456G>A | CA6481132 | ABCC9 | c.3315+27C>T (n.3315+27C>T) n.892+27C>T c.*2413+27C>T (n.*2413+27C>T) n.2816+27C>T c.3264+27C>T (n.3264+27C>T) c.2196+27C>T (n.2196+27C>T) c.3276+27C>T (n.3276+27C>T) c.3174+27C>T (n.3174+27C>T) c.2448+27C>T (n.2448+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844456G= | CA2021314028 | ABCC9 | c.3315+27C= (n.3315+27C=) n.892+27C= c.*2413+27C= (n.*2413+27C=) n.2816+27C= c.3264+27C= (n.3264+27C=) c.2196+27C= (n.2196+27C=) c.3276+27C= (n.3276+27C=) c.3174+27C= (n.3174+27C=) c.2448+27C= (n.2448+27C=) | |
| 12 | g.21844456G>T | CA2617930313 | ABCC9 | c.3315+27C>A (n.3315+27C>A) n.892+27C>A c.*2413+27C>A (n.*2413+27C>A) n.2816+27C>A c.3264+27C>A (n.3264+27C>A) c.2196+27C>A (n.2196+27C>A) c.3276+27C>A (n.3276+27C>A) c.3174+27C>A (n.3174+27C>A) c.2448+27C>A (n.2448+27C>A) | gnomAD v4 |
| 12 | g.21844457A>G | CA2617930315 | ABCC9 | c.3315+26T>C (n.3315+26T>C) n.892+26T>C c.*2413+26T>C (n.*2413+26T>C) n.2816+26T>C c.3264+26T>C (n.3264+26T>C) c.2196+26T>C (n.2196+26T>C) c.3276+26T>C (n.3276+26T>C) c.3174+26T>C (n.3174+26T>C) c.2448+26T>C (n.2448+26T>C) | gnomAD v4 |
| 12 | g.21844458A= | CA2021314030 | ABCC9 | c.3315+25T= (n.3315+25T=) n.892+25T= c.*2413+25T= (n.*2413+25T=) n.2816+25T= c.3264+25T= (n.3264+25T=) c.2196+25T= (n.2196+25T=) c.3276+25T= (n.3276+25T=) c.3174+25T= (n.3174+25T=) c.2448+25T= (n.2448+25T=) | |
| 12 | g.21844458A>G | CA6481133 | ABCC9 | c.3315+25T>C (n.3315+25T>C) n.892+25T>C c.*2413+25T>C (n.*2413+25T>C) n.2816+25T>C c.3264+25T>C (n.3264+25T>C) c.2196+25T>C (n.2196+25T>C) c.3276+25T>C (n.3276+25T>C) c.3174+25T>C (n.3174+25T>C) c.2448+25T>C (n.2448+25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844462G>C | CA945519024 | ABCC9 | c.3315+21C>G (n.3315+21C>G) n.892+21C>G c.*2413+21C>G (n.*2413+21C>G) n.2816+21C>G c.3264+21C>G (n.3264+21C>G) c.2196+21C>G (n.2196+21C>G) c.3276+21C>G (n.3276+21C>G) c.3174+21C>G (n.3174+21C>G) c.2448+21C>G (n.2448+21C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844462G= | CA2021314033 | ABCC9 | c.3315+21C= (n.3315+21C=) n.892+21C= c.*2413+21C= (n.*2413+21C=) n.2816+21C= c.3264+21C= (n.3264+21C=) c.2196+21C= (n.2196+21C=) c.3276+21C= (n.3276+21C=) c.3174+21C= (n.3174+21C=) c.2448+21C= (n.2448+21C=) | |
| 12 | g.21844463G>T | CA2617930318 | ABCC9 | c.3315+20C>A (n.3315+20C>A) n.892+20C>A c.*2413+20C>A (n.*2413+20C>A) n.2816+20C>A c.3264+20C>A (n.3264+20C>A) c.2196+20C>A (n.2196+20C>A) c.3276+20C>A (n.3276+20C>A) c.3174+20C>A (n.3174+20C>A) c.2448+20C>A (n.2448+20C>A) | gnomAD v4 |
| 12 | g.21844466G>A | CA6481134 | ABCC9 | c.3315+17C>T (n.3315+17C>T) n.892+17C>T c.*2413+17C>T (n.*2413+17C>T) n.2816+17C>T c.3264+17C>T (n.3264+17C>T) c.2196+17C>T (n.2196+17C>T) c.3276+17C>T (n.3276+17C>T) c.3174+17C>T (n.3174+17C>T) c.2448+17C>T (n.2448+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844466G= | CA2021314036 | ABCC9 | c.3315+17C= (n.3315+17C=) n.892+17C= c.*2413+17C= (n.*2413+17C=) n.2816+17C= c.3264+17C= (n.3264+17C=) c.2196+17C= (n.2196+17C=) c.3276+17C= (n.3276+17C=) c.3174+17C= (n.3174+17C=) c.2448+17C= (n.2448+17C=) | |
| 12 | g.21844468A>C | CA2617930331 | ABCC9 | c.3315+15T>G (n.3315+15T>G) n.892+15T>G c.*2413+15T>G (n.*2413+15T>G) n.2816+15T>G c.3264+15T>G (n.3264+15T>G) c.2196+15T>G (n.2196+15T>G) c.3276+15T>G (n.3276+15T>G) c.3174+15T>G (n.3174+15T>G) c.2448+15T>G (n.2448+15T>G) | gnomAD v4 |
| 12 | g.21844469A>G | CA2617930333 | ABCC9 | c.3315+14T>C (n.3315+14T>C) n.892+14T>C c.*2413+14T>C (n.*2413+14T>C) n.2816+14T>C c.3264+14T>C (n.3264+14T>C) c.2196+14T>C (n.2196+14T>C) c.3276+14T>C (n.3276+14T>C) c.3174+14T>C (n.3174+14T>C) c.2448+14T>C (n.2448+14T>C) | gnomAD v4 |
| 12 | g.21844470C= | CA2021314047 | ABCC9 | c.3315+13G= (n.3315+13G=) n.892+13G= c.*2413+13G= (n.*2413+13G=) n.2816+13G= c.3264+13G= (n.3264+13G=) c.2196+13G= (n.2196+13G=) c.3276+13G= (n.3276+13G=) c.3174+13G= (n.3174+13G=) c.2448+13G= (n.2448+13G=) | |
| 12 | g.21844470C>G | CA6481135 | ABCC9 | c.3315+13G>C (n.3315+13G>C) n.892+13G>C c.*2413+13G>C (n.*2413+13G>C) n.2816+13G>C c.3264+13G>C (n.3264+13G>C) c.2196+13G>C (n.2196+13G>C) c.3276+13G>C (n.3276+13G>C) c.3174+13G>C (n.3174+13G>C) c.2448+13G>C (n.2448+13G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844470C>T | CA2617930341 | ABCC9 | c.3315+13G>A (n.3315+13G>A) n.892+13G>A c.*2413+13G>A (n.*2413+13G>A) n.2816+13G>A c.3264+13G>A (n.3264+13G>A) c.2196+13G>A (n.2196+13G>A) c.3276+13G>A (n.3276+13G>A) c.3174+13G>A (n.3174+13G>A) c.2448+13G>A (n.2448+13G>A) | gnomAD v4 |
| 12 | g.21844473A= | CA2021314050 | ABCC9 | c.3315+10T= (n.3315+10T=) n.892+10T= c.*2413+10T= (n.*2413+10T=) n.2816+10T= c.3264+10T= (n.3264+10T=) c.2196+10T= (n.2196+10T=) c.3276+10T= (n.3276+10T=) c.3174+10T= (n.3174+10T=) c.2448+10T= (n.2448+10T=) | |
| 12 | g.21844473A>C | CA2580085265 | ABCC9 | c.3315+10T>G (n.3315+10T>G) n.892+10T>G c.*2413+10T>G (n.*2413+10T>G) n.2816+10T>G c.3264+10T>G (n.3264+10T>G) c.2196+10T>G (n.2196+10T>G) c.3276+10T>G (n.3276+10T>G) c.3174+10T>G (n.3174+10T>G) c.2448+10T>G (n.2448+10T>G) | ClinVar |
| 12 | g.21844473A>G | CA603664040 | ABCC9 | c.3315+10T>C (n.3315+10T>C) n.892+10T>C c.*2413+10T>C (n.*2413+10T>C) n.2816+10T>C c.3264+10T>C (n.3264+10T>C) c.2196+10T>C (n.2196+10T>C) c.3276+10T>C (n.3276+10T>C) c.3174+10T>C (n.3174+10T>C) c.2448+10T>C (n.2448+10T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844474G= | CA2021314056 | ABCC9 | c.3315+9C= (n.3315+9C=) n.892+9C= c.*2413+9C= (n.*2413+9C=) n.2816+9C= c.3264+9C= (n.3264+9C=) c.2196+9C= (n.2196+9C=) c.3276+9C= (n.3276+9C=) c.3174+9C= (n.3174+9C=) c.2448+9C= (n.2448+9C=) | |
| 12 | g.21844474G>T | CA6481136 | ABCC9 | c.3315+9C>A (n.3315+9C>A) n.892+9C>A c.*2413+9C>A (n.*2413+9C>A) n.2816+9C>A c.3264+9C>A (n.3264+9C>A) c.2196+9C>A (n.2196+9C>A) c.3276+9C>A (n.3276+9C>A) c.3174+9C>A (n.3174+9C>A) c.2448+9C>A (n.2448+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844475T>C | CA2580085266 | ABCC9 | c.3315+8A>G (n.3315+8A>G) n.892+8A>G c.*2413+8A>G (n.*2413+8A>G) n.2816+8A>G c.3264+8A>G (n.3264+8A>G) c.2196+8A>G (n.2196+8A>G) c.3276+8A>G (n.3276+8A>G) c.3174+8A>G (n.3174+8A>G) c.2448+8A>G (n.2448+8A>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21844476T>A | CA6481137 | ABCC9 | c.3315+7A>T (n.3315+7A>T) n.892+7A>T c.*2413+7A>T (n.*2413+7A>T) n.2816+7A>T c.3264+7A>T (n.3264+7A>T) c.2196+7A>T (n.2196+7A>T) c.3276+7A>T (n.3276+7A>T) c.3174+7A>T (n.3174+7A>T) c.2448+7A>T (n.2448+7A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844476T= | CA2021314061 | ABCC9 | c.3315+7A= (n.3315+7A=) n.892+7A= c.*2413+7A= (n.*2413+7A=) n.2816+7A= c.3264+7A= (n.3264+7A=) c.2196+7A= (n.2196+7A=) c.3276+7A= (n.3276+7A=) c.3174+7A= (n.3174+7A=) c.2448+7A= (n.2448+7A=) | |
| 12 | g.21844477A= | CA2021314067 | ABCC9 | c.3315+6T= (n.3315+6T=) n.892+6T= c.*2413+6T= (n.*2413+6T=) n.2816+6T= c.3264+6T= (n.3264+6T=) c.2196+6T= (n.2196+6T=) c.3276+6T= (n.3276+6T=) c.3174+6T= (n.3174+6T=) c.2448+6T= (n.2448+6T=) | |
| 12 | g.21844477A>G | CA6481138 | ABCC9 | c.3315+6T>C (n.3315+6T>C) n.892+6T>C c.*2413+6T>C (n.*2413+6T>C) n.2816+6T>C c.3264+6T>C (n.3264+6T>C) c.2196+6T>C (n.2196+6T>C) c.3276+6T>C (n.3276+6T>C) c.3174+6T>C (n.3174+6T>C) c.2448+6T>C (n.2448+6T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844479T>C | CA184358 | ABCC9 | c.3315+4A>G (n.3315+4A>G) n.892+4A>G c.*2413+4A>G (n.*2413+4A>G) n.2816+4A>G c.3264+4A>G (n.3264+4A>G) c.2196+4A>G (n.2196+4A>G) c.3276+4A>G (n.3276+4A>G) c.3174+4A>G (n.3174+4A>G) c.2448+4A>G (n.2448+4A>G) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21844479T= | CA2021314075 | ABCC9 | c.3315+4A= (n.3315+4A=) n.892+4A= c.*2413+4A= (n.*2413+4A=) n.2816+4A= c.3264+4A= (n.3264+4A=) c.2196+4A= (n.2196+4A=) c.3276+4A= (n.3276+4A=) c.3174+4A= (n.3174+4A=) c.2448+4A= (n.2448+4A=) | |
| 12 | g.21844481A>C | CA384117984 | ABCC9 | c.3315+2T>G (n.3315+2T>G) n.892+2T>G c.*2413+2T>G (n.*2413+2T>G) n.2816+2T>G c.3264+2T>G (n.3264+2T>G) c.2196+2T>G (n.2196+2T>G) c.3276+2T>G (n.3276+2T>G) c.3174+2T>G (n.3174+2T>G) c.2448+2T>G (n.2448+2T>G) | |
| 12 | g.21844481A>G | CA384117977 | ABCC9 | c.3315+2T>C (n.3315+2T>C) n.892+2T>C c.*2413+2T>C (n.*2413+2T>C) n.2816+2T>C c.3264+2T>C (n.3264+2T>C) c.2196+2T>C (n.2196+2T>C) c.3276+2T>C (n.3276+2T>C) c.3174+2T>C (n.3174+2T>C) c.2448+2T>C (n.2448+2T>C) | |
| 12 | g.21844481A>T | CA384117980 | ABCC9 | c.3315+2T>A (n.3315+2T>A) n.892+2T>A c.*2413+2T>A (n.*2413+2T>A) n.2816+2T>A c.3264+2T>A (n.3264+2T>A) c.2196+2T>A (n.2196+2T>A) c.3276+2T>A (n.3276+2T>A) c.3174+2T>A (n.3174+2T>A) c.2448+2T>A (n.2448+2T>A) | |
| 12 | g.21844482C>A | CA384118000 | ABCC9 | c.3315+1G>T (n.3315+1G>T) n.892+1G>T c.*2413+1G>T (n.*2413+1G>T) n.2816+1G>T c.3264+1G>T (n.3264+1G>T) c.2196+1G>T (n.2196+1G>T) c.3276+1G>T (n.3276+1G>T) c.3174+1G>T (n.3174+1G>T) c.2448+1G>T (n.2448+1G>T) | COSMIC COSMIC |
| 12 | g.21844482C>G | CA384118002 | ABCC9 | c.3315+1G>C (n.3315+1G>C) n.892+1G>C c.*2413+1G>C (n.*2413+1G>C) n.2816+1G>C c.3264+1G>C (n.3264+1G>C) c.2196+1G>C (n.2196+1G>C) c.3276+1G>C (n.3276+1G>C) c.3174+1G>C (n.3174+1G>C) c.2448+1G>C (n.2448+1G>C) | |
| 12 | g.21844482C>T | CA384118004 | ABCC9 | c.3315+1G>A (n.3315+1G>A) n.892+1G>A c.*2413+1G>A (n.*2413+1G>A) n.2816+1G>A c.3264+1G>A (n.3264+1G>A) c.2196+1G>A (n.2196+1G>A) c.3276+1G>A (n.3276+1G>A) c.3174+1G>A (n.3174+1G>A) c.2448+1G>A (n.2448+1G>A) | |
| 12 | g.21844483C>A | CA384118006 | ABCC9 | c.3315G>T (p.Gln1105His) n.892G>T c.*2413G>T (n.*2413G>T) n.2816G>T c.3264G>T (p.Gln1088His) c.2196G>T (p.Gln732His) c.3276G>T (p.Gln1092His) c.3174G>T (p.Gln1058His) c.2448G>T (p.Gln816His) | COSMIC |
| 12 | g.21844483C= | CA2021314083 | ABCC9 | c.3315G= (p.Gln1105=) n.892G= c.*2413G= (n.*2413G=) n.2816G= c.3264G= (p.Gln1088=) c.2196G= (p.Gln732=) c.3276G= (p.Gln1092=) c.3174G= (p.Gln1058=) c.2448G= (p.Gln816=) | |
| 12 | g.21844483C>G | CA6481139 | ABCC9 | c.3315G>C (p.Gln1105His) n.892G>C c.*2413G>C (n.*2413G>C) n.2816G>C c.3264G>C (p.Gln1088His) c.2196G>C (p.Gln732His) c.3276G>C (p.Gln1092His) c.3174G>C (p.Gln1058His) c.2448G>C (p.Gln816His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844483C>T | CA478870028 | ABCC9 | c.3315G>A (p.Gln1105=) n.892G>A c.*2413G>A (n.*2413G>A) n.2816G>A c.3264G>A (p.Gln1088=) c.2196G>A (p.Gln732=) c.3276G>A (p.Gln1092=) c.3174G>A (p.Gln1058=) c.2448G>A (p.Gln816=) | |
| 12 | g.21844484T>A | CA384118009 | ABCC9 | c.3314A>T (p.Gln1105Leu) n.891A>T c.*2412A>T (n.*2412A>T) n.2815A>T c.3263A>T (p.Gln1088Leu) c.2195A>T (p.Gln732Leu) c.3275A>T (p.Gln1092Leu) c.3173A>T (p.Gln1058Leu) c.2447A>T (p.Gln816Leu) | |
| 12 | g.21844484T>C | CA384118011 | ABCC9 | c.3314A>G (p.Gln1105Arg) n.891A>G c.*2412A>G (n.*2412A>G) n.2815A>G c.3263A>G (p.Gln1088Arg) c.2195A>G (p.Gln732Arg) c.3275A>G (p.Gln1092Arg) c.3173A>G (p.Gln1058Arg) c.2447A>G (p.Gln816Arg) | COSMIC COSMIC |
| 12 | g.21844484T>G | CA384118017 | ABCC9 | c.3314A>C (p.Gln1105Pro) n.891A>C c.*2412A>C (n.*2412A>C) n.2815A>C c.3263A>C (p.Gln1088Pro) c.2195A>C (p.Gln732Pro) c.3275A>C (p.Gln1092Pro) c.3173A>C (p.Gln1058Pro) c.2447A>C (p.Gln816Pro) | |
| 12 | g.21844485G>A | CA384118019 | ABCC9 | c.3313C>T (p.Gln1105Ter) n.890C>T c.*2411C>T (n.*2411C>T) n.2814C>T c.3262C>T (p.Gln1088Ter) c.2194C>T (p.Gln732Ter) c.3274C>T (p.Gln1092Ter) c.3172C>T (p.Gln1058Ter) c.2446C>T (p.Gln816Ter) | |
| 12 | g.21844485G>C | CA384118021 | ABCC9 | c.3313C>G (p.Gln1105Glu) n.890C>G c.*2411C>G (n.*2411C>G) n.2814C>G c.3262C>G (p.Gln1088Glu) c.2194C>G (p.Gln732Glu) c.3274C>G (p.Gln1092Glu) c.3172C>G (p.Gln1058Glu) c.2446C>G (p.Gln816Glu) | |
| 12 | g.21844485G>T | CA384118022 | ABCC9 | c.3313C>A (p.Gln1105Lys) n.890C>A c.*2411C>A (n.*2411C>A) n.2814C>A c.3262C>A (p.Gln1088Lys) c.2194C>A (p.Gln732Lys) c.3274C>A (p.Gln1092Lys) c.3172C>A (p.Gln1058Lys) c.2446C>A (p.Gln816Lys) | gnomAD v4 |
| 12 | g.21844486A>C | CA384118024 | ABCC9 | c.3312T>G (p.Asp1104Glu) n.889T>G c.*2410T>G (n.*2410T>G) n.2813T>G c.3261T>G (p.Asp1087Glu) c.2193T>G (p.Asp731Glu) c.3273T>G (p.Asp1091Glu) c.3171T>G (p.Asp1057Glu) c.2445T>G (p.Asp815Glu) | |
| 12 | g.21844486A>G | CA478870031 | ABCC9 | c.3312T>C (p.Asp1104=) n.889T>C c.*2410T>C (n.*2410T>C) n.2813T>C c.3261T>C (p.Asp1087=) c.2193T>C (p.Asp731=) c.3273T>C (p.Asp1091=) c.3171T>C (p.Asp1057=) c.2445T>C (p.Asp815=) | |
| 12 | g.21844486A>T | CA384118025 | ABCC9 | c.3312T>A (p.Asp1104Glu) n.889T>A c.*2410T>A (n.*2410T>A) n.2813T>A c.3261T>A (p.Asp1087Glu) c.2193T>A (p.Asp731Glu) c.3273T>A (p.Asp1091Glu) c.3171T>A (p.Asp1057Glu) c.2445T>A (p.Asp815Glu) | |
| 12 | g.21844487T>A | CA384118033 | ABCC9 | c.3311A>T (p.Asp1104Val) n.888A>T c.*2409A>T (n.*2409A>T) n.2812A>T c.3260A>T (p.Asp1087Val) c.2192A>T (p.Asp731Val) c.3272A>T (p.Asp1091Val) c.3170A>T (p.Asp1057Val) c.2444A>T (p.Asp815Val) | |
| 12 | g.21844487T>C | CA384118026 | ABCC9 | c.3311A>G (p.Asp1104Gly) n.888A>G c.*2409A>G (n.*2409A>G) n.2812A>G c.3260A>G (p.Asp1087Gly) c.2192A>G (p.Asp731Gly) c.3272A>G (p.Asp1091Gly) c.3170A>G (p.Asp1057Gly) c.2444A>G (p.Asp815Gly) | |
| 12 | g.21844487T>G | CA384118028 | ABCC9 | c.3311A>C (p.Asp1104Ala) n.888A>C c.*2409A>C (n.*2409A>C) n.2812A>C c.3260A>C (p.Asp1087Ala) c.2192A>C (p.Asp731Ala) c.3272A>C (p.Asp1091Ala) c.3170A>C (p.Asp1057Ala) c.2444A>C (p.Asp815Ala) | |
| 12 | g.21844488C>A | CA384118035 | ABCC9 | c.3310G>T (p.Asp1104Tyr) n.887G>T c.*2408G>T (n.*2408G>T) n.2811G>T c.3259G>T (p.Asp1087Tyr) c.2191G>T (p.Asp731Tyr) c.3271G>T (p.Asp1091Tyr) c.3169G>T (p.Asp1057Tyr) c.2443G>T (p.Asp815Tyr) | gnomAD v4 |
| 12 | g.21844488C>G | CA384118036 | ABCC9 | c.3310G>C (p.Asp1104His) n.887G>C c.*2408G>C (n.*2408G>C) n.2811G>C c.3259G>C (p.Asp1087His) c.2191G>C (p.Asp731His) c.3271G>C (p.Asp1091His) c.3169G>C (p.Asp1057His) c.2443G>C (p.Asp815His) | |
| 12 | g.21844488C>T | CA384118038 | ABCC9 | c.3310G>A (p.Asp1104Asn) n.887G>A c.*2408G>A (n.*2408G>A) n.2811G>A c.3259G>A (p.Asp1087Asn) c.2191G>A (p.Asp731Asn) c.3271G>A (p.Asp1091Asn) c.3169G>A (p.Asp1057Asn) c.2443G>A (p.Asp815Asn) | |
| 12 | g.21844489A= | CA2021314090 | ABCC9 | c.3309T= (p.Ile1103=) n.886T= c.*2407T= (n.*2407T=) n.2810T= c.3258T= (p.Ile1086=) c.2190T= (p.Ile730=) c.3270T= (p.Ile1090=) c.3168T= (p.Ile1056=) c.2442T= (p.Ile814=) | |
| 12 | g.21844489A>C | CA384118040 | ABCC9 | c.3309T>G (p.Ile1103Met) n.886T>G c.*2407T>G (n.*2407T>G) n.2810T>G c.3258T>G (p.Ile1086Met) c.2190T>G (p.Ile730Met) c.3270T>G (p.Ile1090Met) c.3168T>G (p.Ile1056Met) c.2442T>G (p.Ile814Met) | |
| 12 | g.21844489A>G | CA6481140 | ABCC9 | c.3309T>C (p.Ile1103=) n.886T>C c.*2407T>C (n.*2407T>C) n.2810T>C c.3258T>C (p.Ile1086=) c.2190T>C (p.Ile730=) c.3270T>C (p.Ile1090=) c.3168T>C (p.Ile1056=) c.2442T>C (p.Ile814=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844489A>T | CA16607193 | ABCC9 | c.3309T>A (p.Ile1103=) n.886T>A c.*2407T>A (n.*2407T>A) n.2810T>A c.3258T>A (p.Ile1086=) c.2190T>A (p.Ile730=) c.3270T>A (p.Ile1090=) c.3168T>A (p.Ile1056=) c.2442T>A (p.Ile814=) | ClinVar dbSNP |
| 12 | g.21844490A>C | CA384118043 | ABCC9 | c.3308T>G (p.Ile1103Ser) n.885T>G c.*2406T>G (n.*2406T>G) n.2809T>G c.3257T>G (p.Ile1086Ser) c.2189T>G (p.Ile730Ser) c.3269T>G (p.Ile1090Ser) c.3167T>G (p.Ile1056Ser) c.2441T>G (p.Ile814Ser) | |
| 12 | g.21844490A>G | CA384118045 | ABCC9 | c.3308T>C (p.Ile1103Thr) n.885T>C c.*2406T>C (n.*2406T>C) n.2809T>C c.3257T>C (p.Ile1086Thr) c.2189T>C (p.Ile730Thr) c.3269T>C (p.Ile1090Thr) c.3167T>C (p.Ile1056Thr) c.2441T>C (p.Ile814Thr) | gnomAD v4 |
| 12 | g.21844490A>T | CA384118047 | ABCC9 | c.3308T>A (p.Ile1103Asn) n.885T>A c.*2406T>A (n.*2406T>A) n.2809T>A c.3257T>A (p.Ile1086Asn) c.2189T>A (p.Ile730Asn) c.3269T>A (p.Ile1090Asn) c.3167T>A (p.Ile1056Asn) c.2441T>A (p.Ile814Asn) | |
| 12 | g.21844491T>A | CA384118048 | ABCC9 | c.3307A>T (p.Ile1103Phe) n.884A>T c.*2405A>T (n.*2405A>T) n.2808A>T c.3256A>T (p.Ile1086Phe) c.2188A>T (p.Ile730Phe) c.3268A>T (p.Ile1090Phe) c.3166A>T (p.Ile1056Phe) c.2440A>T (p.Ile814Phe) | |
| 12 | g.21844491T>C | CA384118052 | ABCC9 | c.3307A>G (p.Ile1103Val) n.884A>G c.*2405A>G (n.*2405A>G) n.2808A>G c.3256A>G (p.Ile1086Val) c.2188A>G (p.Ile730Val) c.3268A>G (p.Ile1090Val) c.3166A>G (p.Ile1056Val) c.2440A>G (p.Ile814Val) | |
| 12 | g.21844491T>G | CA384118050 | ABCC9 | c.3307A>C (p.Ile1103Leu) n.884A>C c.*2405A>C (n.*2405A>C) n.2808A>C c.3256A>C (p.Ile1086Leu) c.2188A>C (p.Ile730Leu) c.3268A>C (p.Ile1090Leu) c.3166A>C (p.Ile1056Leu) c.2440A>C (p.Ile814Leu) | |
| 12 | g.21844492G>A | CA478870033 | ABCC9 | c.3306C>T (p.Ile1102=) n.883C>T c.*2404C>T (n.*2404C>T) n.2807C>T c.3255C>T (p.Ile1085=) c.2187C>T (p.Ile729=) c.3267C>T (p.Ile1089=) c.3165C>T (p.Ile1055=) c.2439C>T (p.Ile813=) | gnomAD v4 |
| 12 | g.21844492G>C | CA384118055 | ABCC9 | c.3306C>G (p.Ile1102Met) n.883C>G c.*2404C>G (n.*2404C>G) n.2807C>G c.3255C>G (p.Ile1085Met) c.2187C>G (p.Ile729Met) c.3267C>G (p.Ile1089Met) c.3165C>G (p.Ile1055Met) c.2439C>G (p.Ile813Met) | |
| 12 | g.21844492G>T | CA478870034 | ABCC9 | c.3306C>A (p.Ile1102=) n.883C>A c.*2404C>A (n.*2404C>A) n.2807C>A c.3255C>A (p.Ile1085=) c.2187C>A (p.Ile729=) c.3267C>A (p.Ile1089=) c.3165C>A (p.Ile1055=) c.2439C>A (p.Ile813=) | |
| 12 | g.21844492_21844493delinsGA | CA2021314098 | ABCC9 | c.3305_3306delinsTC (p.Ile1102=) n.882_883delinsTC c.*2403_*2404delinsTC (n.*2403_*2404delinsTC) n.2806_2807delinsTC c.3254_3255delinsTC (p.Ile1085=) c.2186_2187delinsTC (p.Ile729=) c.3266_3267delinsTC (p.Ile1089=) c.3164_3165delinsTC (p.Ile1055=) c.2438_2439delinsTC (p.Ile813=) | |
| 12 | g.21844493del | CA603664041 | ABCC9 | c.3305del (p.Ile1102ThrfsTer13) n.882del c.*2403del (n.*2403del) n.2806del c.3254del (p.Ile1085ThrfsTer13) c.2186del (p.Ile729ThrfsTer13) c.3266del (p.Ile1089ThrfsTer13) c.3164del (p.Ile1055ThrfsTer13) c.2438del (p.Ile813ThrfsTer13) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844493A>C | CA384118057 | ABCC9 | c.3305T>G (p.Ile1102Ser) n.882T>G c.*2403T>G (n.*2403T>G) n.2806T>G c.3254T>G (p.Ile1085Ser) c.2186T>G (p.Ile729Ser) c.3266T>G (p.Ile1089Ser) c.3164T>G (p.Ile1055Ser) c.2438T>G (p.Ile813Ser) | |
| 12 | g.21844493A>G | CA384118059 | ABCC9 | c.3305T>C (p.Ile1102Thr) n.882T>C c.*2403T>C (n.*2403T>C) n.2806T>C c.3254T>C (p.Ile1085Thr) c.2186T>C (p.Ile729Thr) c.3266T>C (p.Ile1089Thr) c.3164T>C (p.Ile1055Thr) c.2438T>C (p.Ile813Thr) | |
| 12 | g.21844493A>T | CA384118060 | ABCC9 | c.3305T>A (p.Ile1102Asn) n.882T>A c.*2403T>A (n.*2403T>A) n.2806T>A c.3254T>A (p.Ile1085Asn) c.2186T>A (p.Ile729Asn) c.3266T>A (p.Ile1089Asn) c.3164T>A (p.Ile1055Asn) c.2438T>A (p.Ile813Asn) | gnomAD v4 |
| 12 | g.21844494T>A | CA384118061 | ABCC9 | c.3304A>T (p.Ile1102Phe) n.881A>T c.*2402A>T (n.*2402A>T) n.2805A>T c.3253A>T (p.Ile1085Phe) c.2185A>T (p.Ile729Phe) c.3265A>T (p.Ile1089Phe) c.3163A>T (p.Ile1055Phe) c.2437A>T (p.Ile813Phe) | |
| 12 | g.21844494T>C | CA6481141 | ABCC9 | c.3304A>G (p.Ile1102Val) n.881A>G c.*2402A>G (n.*2402A>G) n.2805A>G c.3253A>G (p.Ile1085Val) c.2185A>G (p.Ile729Val) c.3265A>G (p.Ile1089Val) c.3163A>G (p.Ile1055Val) c.2437A>G (p.Ile813Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844494T>G | CA384118062 | ABCC9 | c.3304A>C (p.Ile1102Leu) n.881A>C c.*2402A>C (n.*2402A>C) n.2805A>C c.3253A>C (p.Ile1085Leu) c.2185A>C (p.Ile729Leu) c.3265A>C (p.Ile1089Leu) c.3163A>C (p.Ile1055Leu) c.2437A>C (p.Ile813Leu) | |
| 12 | g.21844494T= | CA2021314105 | ABCC9 | c.3304A= (p.Ile1102=) n.881A= c.*2402A= (n.*2402A=) n.2805A= c.3253A= (p.Ile1085=) c.2185A= (p.Ile729=) c.3265A= (p.Ile1089=) c.3163A= (p.Ile1055=) c.2437A= (p.Ile813=) | |
| 12 | g.21844496_21844498del | CA645590304 | ABCC9 | c.3302_3304del (p.Asn1101del) n.879_881del c.*2400_*2402del (n.*2400_*2402del) n.2803_2805del c.3251_3253del (p.Asn1084del) c.2183_2185del (p.Asn728del) c.3263_3265del (p.Asn1088del) c.3161_3163del (p.Asn1054del) c.2435_2437del (p.Asn812del) | COSMIC COSMIC |
| 12 | g.21844495A= | CA2021314109 | ABCC9 | c.3303T= (p.Asn1101=) n.880T= c.*2401T= (n.*2401T=) n.2804T= c.3252T= (p.Asn1084=) c.2184T= (p.Asn728=) c.3264T= (p.Asn1088=) c.3162T= (p.Asn1054=) c.2436T= (p.Asn812=) | |
| 12 | g.21844495A>C | CA384118063 | ABCC9 | c.3303T>G (p.Asn1101Lys) n.880T>G c.*2401T>G (n.*2401T>G) n.2804T>G c.3252T>G (p.Asn1084Lys) c.2184T>G (p.Asn728Lys) c.3264T>G (p.Asn1088Lys) c.3162T>G (p.Asn1054Lys) c.2436T>G (p.Asn812Lys) | |
| 12 | g.21844495A>G | CA478870036 | ABCC9 | c.3303T>C (p.Asn1101=) n.880T>C c.*2401T>C (n.*2401T>C) n.2804T>C c.3252T>C (p.Asn1084=) c.2184T>C (p.Asn728=) c.3264T>C (p.Asn1088=) c.3162T>C (p.Asn1054=) c.2436T>C (p.Asn812=) | dbSNP gnomAD v2 |
| 12 | g.21844495A>T | CA384118064 | ABCC9 | c.3303T>A (p.Asn1101Lys) n.880T>A c.*2401T>A (n.*2401T>A) n.2804T>A c.3252T>A (p.Asn1084Lys) c.2184T>A (p.Asn728Lys) c.3264T>A (p.Asn1088Lys) c.3162T>A (p.Asn1054Lys) c.2436T>A (p.Asn812Lys) | |
| 12 | g.21844496T>A | CA384118065 | ABCC9 | c.3302A>T (p.Asn1101Ile) n.879A>T c.*2400A>T (n.*2400A>T) n.2803A>T c.3251A>T (p.Asn1084Ile) c.2183A>T (p.Asn728Ile) c.3263A>T (p.Asn1088Ile) c.3161A>T (p.Asn1054Ile) c.2435A>T (p.Asn812Ile) | |
| 12 | g.21844496T>C | CA384118066 | ABCC9 | c.3302A>G (p.Asn1101Ser) n.879A>G c.*2400A>G (n.*2400A>G) n.2803A>G c.3251A>G (p.Asn1084Ser) c.2183A>G (p.Asn728Ser) c.3263A>G (p.Asn1088Ser) c.3161A>G (p.Asn1054Ser) c.2435A>G (p.Asn812Ser) | COSMIC COSMIC |
| 12 | g.21844496T>G | CA384118067 | ABCC9 | c.3302A>C (p.Asn1101Thr) n.879A>C c.*2400A>C (n.*2400A>C) n.2803A>C c.3251A>C (p.Asn1084Thr) c.2183A>C (p.Asn728Thr) c.3263A>C (p.Asn1088Thr) c.3161A>C (p.Asn1054Thr) c.2435A>C (p.Asn812Thr) | |
| 12 | g.21844497T>A | CA384118068 | ABCC9 | c.3301A>T (p.Asn1101Tyr) n.878A>T c.*2399A>T (n.*2399A>T) n.2802A>T c.3250A>T (p.Asn1084Tyr) c.2182A>T (p.Asn728Tyr) c.3262A>T (p.Asn1088Tyr) c.3160A>T (p.Asn1054Tyr) c.2434A>T (p.Asn812Tyr) | |
| 12 | g.21844497T>C | CA384118069 | ABCC9 | c.3301A>G (p.Asn1101Asp) n.878A>G c.*2399A>G (n.*2399A>G) n.2802A>G c.3250A>G (p.Asn1084Asp) c.2182A>G (p.Asn728Asp) c.3262A>G (p.Asn1088Asp) c.3160A>G (p.Asn1054Asp) c.2434A>G (p.Asn812Asp) | COSMIC COSMIC |
| 12 | g.21844497T>G | CA384118070 | ABCC9 | c.3301A>C (p.Asn1101His) n.878A>C c.*2399A>C (n.*2399A>C) n.2802A>C c.3250A>C (p.Asn1084His) c.2182A>C (p.Asn728His) c.3262A>C (p.Asn1088His) c.3160A>C (p.Asn1054His) c.2434A>C (p.Asn812His) | gnomAD v4 |
| 12 | g.21844498A>C | CA478870038 | ABCC9 | c.3300T>G (p.Thr1100=) n.877T>G c.*2398T>G (n.*2398T>G) n.2801T>G c.3249T>G (p.Thr1083=) c.2181T>G (p.Thr727=) c.3261T>G (p.Thr1087=) c.3159T>G (p.Thr1053=) c.2433T>G (p.Thr811=) | |
| 12 | g.21844498A>G | CA478870039 | ABCC9 | c.3300T>C (p.Thr1100=) n.877T>C c.*2398T>C (n.*2398T>C) n.2801T>C c.3249T>C (p.Thr1083=) c.2181T>C (p.Thr727=) c.3261T>C (p.Thr1087=) c.3159T>C (p.Thr1053=) c.2433T>C (p.Thr811=) | |
| 12 | g.21844498A>T | CA478870041 | ABCC9 | c.3300T>A (p.Thr1100=) n.877T>A c.*2398T>A (n.*2398T>A) n.2801T>A c.3249T>A (p.Thr1083=) c.2181T>A (p.Thr727=) c.3261T>A (p.Thr1087=) c.3159T>A (p.Thr1053=) c.2433T>A (p.Thr811=) | |
| 12 | g.21844499G>A | CA236983 | ABCC9 | c.3299C>T (p.Thr1100Ile) n.876C>T c.*2397C>T (n.*2397C>T) n.2800C>T c.3248C>T (p.Thr1083Ile) c.2180C>T (p.Thr727Ile) c.3260C>T (p.Thr1087Ile) c.3158C>T (p.Thr1053Ile) c.2432C>T (p.Thr811Ile) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21844499G>C | CA6481142 | ABCC9 | c.3299C>G (p.Thr1100Ser) n.876C>G c.*2397C>G (n.*2397C>G) n.2800C>G c.3248C>G (p.Thr1083Ser) c.2180C>G (p.Thr727Ser) c.3260C>G (p.Thr1087Ser) c.3158C>G (p.Thr1053Ser) c.2432C>G (p.Thr811Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21844499G= | CA2021314113 | ABCC9 | c.3299C= (p.Thr1100=) n.876C= c.*2397C= (n.*2397C=) n.2800C= c.3248C= (p.Thr1083=) c.2180C= (p.Thr727=) c.3260C= (p.Thr1087=) c.3158C= (p.Thr1053=) c.2432C= (p.Thr811=) | |
| 12 | g.21844499G>T | CA384118071 | ABCC9 | c.3299C>A (p.Thr1100Asn) n.876C>A c.*2397C>A (n.*2397C>A) n.2800C>A c.3248C>A (p.Thr1083Asn) c.2180C>A (p.Thr727Asn) c.3260C>A (p.Thr1087Asn) c.3158C>A (p.Thr1053Asn) c.2432C>A (p.Thr811Asn) | |
| 12 | g.21844500T>A | CA384118072 | ABCC9 | c.3298A>T (p.Thr1100Ser) n.875A>T c.*2396A>T (n.*2396A>T) n.2799A>T c.3247A>T (p.Thr1083Ser) c.2179A>T (p.Thr727Ser) c.3259A>T (p.Thr1087Ser) c.3157A>T (p.Thr1053Ser) c.2431A>T (p.Thr811Ser) | |
| 12 | g.21844500T>C | CA384118074 | ABCC9 | c.3298A>G (p.Thr1100Ala) n.875A>G c.*2396A>G (n.*2396A>G) n.2799A>G c.3247A>G (p.Thr1083Ala) c.2179A>G (p.Thr727Ala) c.3259A>G (p.Thr1087Ala) c.3157A>G (p.Thr1053Ala) c.2431A>G (p.Thr811Ala) | |
| 12 | g.21844500T>G | CA384118073 | ABCC9 | c.3298A>C (p.Thr1100Pro) n.875A>C c.*2396A>C (n.*2396A>C) n.2799A>C c.3247A>C (p.Thr1083Pro) c.2179A>C (p.Thr727Pro) c.3259A>C (p.Thr1087Pro) c.3157A>C (p.Thr1053Pro) c.2431A>C (p.Thr811Pro) | |
| 12 | g.21844501A= | CA2021314125 | ABCC9 | c.3297T= (p.Asp1099=) n.874T= c.*2395T= (n.*2395T=) n.2798T= c.3246T= (p.Asp1082=) c.2178T= (p.Asp726=) c.3258T= (p.Asp1086=) c.3156T= (p.Asp1052=) c.2430T= (p.Asp810=) | |
| 12 | g.21844501A>C | CA384118075 | ABCC9 | c.3297T>G (p.Asp1099Glu) n.874T>G c.*2395T>G (n.*2395T>G) n.2798T>G c.3246T>G (p.Asp1082Glu) c.2178T>G (p.Asp726Glu) c.3258T>G (p.Asp1086Glu) c.3156T>G (p.Asp1052Glu) c.2430T>G (p.Asp810Glu) | |
| 12 | g.21844501A>G | CA478870044 | ABCC9 | c.3297T>C (p.Asp1099=) n.874T>C c.*2395T>C (n.*2395T>C) n.2798T>C c.3246T>C (p.Asp1082=) c.2178T>C (p.Asp726=) c.3258T>C (p.Asp1086=) c.3156T>C (p.Asp1052=) c.2430T>C (p.Asp810=) | dbSNP |
| 12 | g.21844501A>T | CA384118076 | ABCC9 | c.3297T>A (p.Asp1099Glu) n.874T>A c.*2395T>A (n.*2395T>A) n.2798T>A c.3246T>A (p.Asp1082Glu) c.2178T>A (p.Asp726Glu) c.3258T>A (p.Asp1086Glu) c.3156T>A (p.Asp1052Glu) c.2430T>A (p.Asp810Glu) | |
| 12 | g.21844502T>A | CA384118077 | ABCC9 | c.3296A>T (p.Asp1099Val) n.873A>T c.*2394A>T (n.*2394A>T) n.2797A>T c.3245A>T (p.Asp1082Val) c.2177A>T (p.Asp726Val) c.3257A>T (p.Asp1086Val) c.3155A>T (p.Asp1052Val) c.2429A>T (p.Asp810Val) | |
| 12 | g.21844502T>C | CA384118078 | ABCC9 | c.3296A>G (p.Asp1099Gly) n.873A>G c.*2394A>G (n.*2394A>G) n.2797A>G c.3245A>G (p.Asp1082Gly) c.2177A>G (p.Asp726Gly) c.3257A>G (p.Asp1086Gly) c.3155A>G (p.Asp1052Gly) c.2429A>G (p.Asp810Gly) | |
| 12 | g.21844502T>G | CA384118079 | ABCC9 | c.3296A>C (p.Asp1099Ala) n.873A>C c.*2394A>C (n.*2394A>C) n.2797A>C c.3245A>C (p.Asp1082Ala) c.2177A>C (p.Asp726Ala) c.3257A>C (p.Asp1086Ala) c.3155A>C (p.Asp1052Ala) c.2429A>C (p.Asp810Ala) | |
| 12 | g.21844503C>A | CA384118083 | ABCC9 | c.3295G>T (p.Asp1099Tyr) n.872G>T c.*2393G>T (n.*2393G>T) n.2796G>T c.3244G>T (p.Asp1082Tyr) c.2176G>T (p.Asp726Tyr) c.3256G>T (p.Asp1086Tyr) c.3154G>T (p.Asp1052Tyr) c.2428G>T (p.Asp810Tyr) | |
| 12 | g.21844503C>G | CA384118082 | ABCC9 | c.3295G>C (p.Asp1099His) n.872G>C c.*2393G>C (n.*2393G>C) n.2796G>C c.3244G>C (p.Asp1082His) c.2176G>C (p.Asp726His) c.3256G>C (p.Asp1086His) c.3154G>C (p.Asp1052His) c.2428G>C (p.Asp810His) | |
| 12 | g.21844503C>T | CA384118080 | ABCC9 | c.3295G>A (p.Asp1099Asn) n.872G>A c.*2393G>A (n.*2393G>A) n.2796G>A c.3244G>A (p.Asp1082Asn) c.2176G>A (p.Asp726Asn) c.3256G>A (p.Asp1086Asn) c.3154G>A (p.Asp1052Asn) c.2428G>A (p.Asp810Asn) | |
| 12 | g.21844504A>C | CA478870049 | ABCC9 | c.3294T>G (p.Ala1098=) n.871T>G c.*2392T>G (n.*2392T>G) n.2795T>G c.3243T>G (p.Ala1081=) c.2175T>G (p.Ala725=) c.3255T>G (p.Ala1085=) c.3153T>G (p.Ala1051=) c.2427T>G (p.Ala809=) | |
| 12 | g.21844504A>G | CA478870048 | ABCC9 | c.3294T>C (p.Ala1098=) n.871T>C c.*2392T>C (n.*2392T>C) n.2795T>C c.3243T>C (p.Ala1081=) c.2175T>C (p.Ala725=) c.3255T>C (p.Ala1085=) c.3153T>C (p.Ala1051=) c.2427T>C (p.Ala809=) | |
| 12 | g.21844504A>T | CA478870047 | ABCC9 | c.3294T>A (p.Ala1098=) n.871T>A c.*2392T>A (n.*2392T>A) n.2795T>A c.3243T>A (p.Ala1081=) c.2175T>A (p.Ala725=) c.3255T>A (p.Ala1085=) c.3153T>A (p.Ala1051=) c.2427T>A (p.Ala809=) | |
| 12 | g.21844504_21844505delinsTT | CA2573148552 | ABCC9 | c.3293_3294delinsAA (p.Ala1098Glu) n.870_871delinsAA c.*2391_*2392delinsAA (n.*2391_*2392delinsAA) n.2794_2795delinsAA c.3242_3243delinsAA (p.Ala1081Glu) c.2174_2175delinsAA (p.Ala725Glu) c.3254_3255delinsAA (p.Ala1085Glu) c.3152_3153delinsAA (p.Ala1051Glu) c.2426_2427delinsAA (p.Ala809Glu) | ClinVar dbSNP |
| 12 | g.21844505G>A | CA384118085 | ABCC9 | c.3293C>T (p.Ala1098Val) n.870C>T c.*2391C>T (n.*2391C>T) n.2794C>T c.3242C>T (p.Ala1081Val) c.2174C>T (p.Ala725Val) c.3254C>T (p.Ala1085Val) c.3152C>T (p.Ala1051Val) c.2426C>T (p.Ala809Val) | gnomAD v4 |
| 12 | g.21844505G>C | CA384118087 | ABCC9 | c.3293C>G (p.Ala1098Gly) n.870C>G c.*2391C>G (n.*2391C>G) n.2794C>G c.3242C>G (p.Ala1081Gly) c.2174C>G (p.Ala725Gly) c.3254C>G (p.Ala1085Gly) c.3152C>G (p.Ala1051Gly) c.2426C>G (p.Ala809Gly) | |
| 12 | g.21844505G>T | CA384118088 | ABCC9 | c.3293C>A (p.Ala1098Asp) n.870C>A c.*2391C>A (n.*2391C>A) n.2794C>A c.3242C>A (p.Ala1081Asp) c.2174C>A (p.Ala725Asp) c.3254C>A (p.Ala1085Asp) c.3152C>A (p.Ala1051Asp) c.2426C>A (p.Ala809Asp) | |
| 12 | g.21844506C>A | CA384118089 | ABCC9 | c.3292G>T (p.Ala1098Ser) n.869G>T c.*2390G>T (n.*2390G>T) n.2793G>T c.3241G>T (p.Ala1081Ser) c.2173G>T (p.Ala725Ser) c.3253G>T (p.Ala1085Ser) c.3151G>T (p.Ala1051Ser) c.2425G>T (p.Ala809Ser) | |
| 12 | g.21844506C= | CA2021314128 | ABCC9 | c.3292G= (p.Ala1098=) n.869G= c.*2390G= (n.*2390G=) n.2793G= c.3241G= (p.Ala1081=) c.2173G= (p.Ala725=) c.3253G= (p.Ala1085=) c.3151G= (p.Ala1051=) c.2425G= (p.Ala809=) | |
| 12 | g.21844506C>G | CA384118091 | ABCC9 | c.3292G>C (p.Ala1098Pro) n.869G>C c.*2390G>C (n.*2390G>C) n.2793G>C c.3241G>C (p.Ala1081Pro) c.2173G>C (p.Ala725Pro) c.3253G>C (p.Ala1085Pro) c.3151G>C (p.Ala1051Pro) c.2425G>C (p.Ala809Pro) | |
| 12 | g.21844506C>T | CA384118092 | ABCC9 | c.3292G>A (p.Ala1098Thr) n.869G>A c.*2390G>A (n.*2390G>A) n.2793G>A c.3241G>A (p.Ala1081Thr) c.2173G>A (p.Ala725Thr) c.3253G>A (p.Ala1085Thr) c.3151G>A (p.Ala1051Thr) c.2425G>A (p.Ala809Thr) | dbSNP gnomAD v4 |
| 12 | g.21844507T>A | CA478870050 | ABCC9 | c.3291A>T (p.Ser1097=) n.868A>T c.*2389A>T (n.*2389A>T) n.2792A>T c.3240A>T (p.Ser1080=) c.2172A>T (p.Ser724=) c.3252A>T (p.Ser1084=) c.3150A>T (p.Ser1050=) c.2424A>T (p.Ser808=) | |
| 12 | g.21844507T>C | CA478870051 | ABCC9 | c.3291A>G (p.Ser1097=) n.868A>G c.*2389A>G (n.*2389A>G) n.2792A>G c.3240A>G (p.Ser1080=) c.2172A>G (p.Ser724=) c.3252A>G (p.Ser1084=) c.3150A>G (p.Ser1050=) c.2424A>G (p.Ser808=) | |
| 12 | g.21844507T>G | CA478870052 | ABCC9 | c.3291A>C (p.Ser1097=) n.868A>C c.*2389A>C (n.*2389A>C) n.2792A>C c.3240A>C (p.Ser1080=) c.2172A>C (p.Ser724=) c.3252A>C (p.Ser1084=) c.3150A>C (p.Ser1050=) c.2424A>C (p.Ser808=) | |
| 12 | g.21844508G>A | CA384118097 | ABCC9 | c.3290C>T (p.Ser1097Leu) n.867C>T c.*2388C>T (n.*2388C>T) n.2791C>T c.3239C>T (p.Ser1080Leu) c.2171C>T (p.Ser724Leu) c.3251C>T (p.Ser1084Leu) c.3149C>T (p.Ser1050Leu) c.2423C>T (p.Ser808Leu) | |
| 12 | g.21844508G>C | CA384118094 | ABCC9 | c.3290C>G (p.Ser1097Ter) n.867C>G c.*2388C>G (n.*2388C>G) n.2791C>G c.3239C>G (p.Ser1080Ter) c.2171C>G (p.Ser724Ter) c.3251C>G (p.Ser1084Ter) c.3149C>G (p.Ser1050Ter) c.2423C>G (p.Ser808Ter) | |
| 12 | g.21844508G>T | CA384118096 | ABCC9 | c.3290C>A (p.Ser1097Ter) n.867C>A c.*2388C>A (n.*2388C>A) n.2791C>A c.3239C>A (p.Ser1080Ter) c.2171C>A (p.Ser724Ter) c.3251C>A (p.Ser1084Ter) c.3149C>A (p.Ser1050Ter) c.2423C>A (p.Ser808Ter) | |
| 12 | g.21844509A>C | CA384118098 | ABCC9 | c.3289T>G (p.Ser1097Ala) n.866T>G c.*2387T>G (n.*2387T>G) n.2790T>G c.3238T>G (p.Ser1080Ala) c.2170T>G (p.Ser724Ala) c.3250T>G (p.Ser1084Ala) c.3148T>G (p.Ser1050Ala) c.2422T>G (p.Ser808Ala) | |
| 12 | g.21844509A>G | CA384118100 | ABCC9 | c.3289T>C (p.Ser1097Pro) n.866T>C c.*2387T>C (n.*2387T>C) n.2790T>C c.3238T>C (p.Ser1080Pro) c.2170T>C (p.Ser724Pro) c.3250T>C (p.Ser1084Pro) c.3148T>C (p.Ser1050Pro) c.2422T>C (p.Ser808Pro) | |
| 12 | g.21844509A>T | CA384118101 | ABCC9 | c.3289T>A (p.Ser1097Thr) n.866T>A c.*2387T>A (n.*2387T>A) n.2790T>A c.3238T>A (p.Ser1080Thr) c.2170T>A (p.Ser724Thr) c.3250T>A (p.Ser1084Thr) c.3148T>A (p.Ser1050Thr) c.2422T>A (p.Ser808Thr) | |
| 12 | g.21844510A= | CA2021314131 | ABCC9 | c.3288T= (p.Phe1096=) n.865T= c.*2386T= (n.*2386T=) n.2789T= c.3237T= (p.Phe1079=) c.2169T= (p.Phe723=) c.3249T= (p.Phe1083=) c.3147T= (p.Phe1049=) c.2421T= (p.Phe807=) | |
| 12 | g.21844510A>C | CA384118103 | ABCC9 | c.3288T>G (p.Phe1096Leu) n.865T>G c.*2386T>G (n.*2386T>G) n.2789T>G c.3237T>G (p.Phe1079Leu) c.2169T>G (p.Phe723Leu) c.3249T>G (p.Phe1083Leu) c.3147T>G (p.Phe1049Leu) c.2421T>G (p.Phe807Leu) | |
| 12 | g.21844510A>G | CA183479 | ABCC9 | c.3288T>C (p.Phe1096=) n.865T>C c.*2386T>C (n.*2386T>C) n.2789T>C c.3237T>C (p.Phe1079=) c.2169T>C (p.Phe723=) c.3249T>C (p.Phe1083=) c.3147T>C (p.Phe1049=) c.2421T>C (p.Phe807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844510A>T | CA384118105 | ABCC9 | c.3288T>A (p.Phe1096Leu) n.865T>A c.*2386T>A (n.*2386T>A) n.2789T>A c.3237T>A (p.Phe1079Leu) c.2169T>A (p.Phe723Leu) c.3249T>A (p.Phe1083Leu) c.3147T>A (p.Phe1049Leu) c.2421T>A (p.Phe807Leu) | |
| 12 | g.21844511A>C | CA384118107 | ABCC9 | c.3287T>G (p.Phe1096Cys) n.864T>G c.*2385T>G (n.*2385T>G) n.2788T>G c.3236T>G (p.Phe1079Cys) c.2168T>G (p.Phe723Cys) c.3248T>G (p.Phe1083Cys) c.3146T>G (p.Phe1049Cys) c.2420T>G (p.Phe807Cys) | |
| 12 | g.21844511A>G | CA384118108 | ABCC9 | c.3287T>C (p.Phe1096Ser) n.864T>C c.*2385T>C (n.*2385T>C) n.2788T>C c.3236T>C (p.Phe1079Ser) c.2168T>C (p.Phe723Ser) c.3248T>C (p.Phe1083Ser) c.3146T>C (p.Phe1049Ser) c.2420T>C (p.Phe807Ser) | |
| 12 | g.21844511A>T | CA384118110 | ABCC9 | c.3287T>A (p.Phe1096Tyr) n.864T>A c.*2385T>A (n.*2385T>A) n.2788T>A c.3236T>A (p.Phe1079Tyr) c.2168T>A (p.Phe723Tyr) c.3248T>A (p.Phe1083Tyr) c.3146T>A (p.Phe1049Tyr) c.2420T>A (p.Phe807Tyr) | |
| 12 | g.21844512A>C | CA384118112 | ABCC9 | c.3286T>G (p.Phe1096Val) n.863T>G c.*2384T>G (n.*2384T>G) n.2787T>G c.3235T>G (p.Phe1079Val) c.2167T>G (p.Phe723Val) c.3247T>G (p.Phe1083Val) c.3145T>G (p.Phe1049Val) c.2419T>G (p.Phe807Val) | |
| 12 | g.21844512A>G | CA384118113 | ABCC9 | c.3286T>C (p.Phe1096Leu) n.863T>C c.*2384T>C (n.*2384T>C) n.2787T>C c.3235T>C (p.Phe1079Leu) c.2167T>C (p.Phe723Leu) c.3247T>C (p.Phe1083Leu) c.3145T>C (p.Phe1049Leu) c.2419T>C (p.Phe807Leu) | COSMIC COSMIC |
| 12 | g.21844512A>T | CA384118114 | ABCC9 | c.3286T>A (p.Phe1096Ile) n.863T>A c.*2384T>A (n.*2384T>A) n.2787T>A c.3235T>A (p.Phe1079Ile) c.2167T>A (p.Phe723Ile) c.3247T>A (p.Phe1083Ile) c.3145T>A (p.Phe1049Ile) c.2419T>A (p.Phe807Ile) | |
| 12 | g.21844513G>A | CA478870059 | ABCC9 | c.3285C>T (p.Arg1095=) n.862C>T c.*2383C>T (n.*2383C>T) n.2786C>T c.3234C>T (p.Arg1078=) c.2166C>T (p.Arg722=) c.3246C>T (p.Arg1082=) c.3144C>T (p.Arg1048=) c.2418C>T (p.Arg806=) | |
| 12 | g.21844513G>C | CA478870061 | ABCC9 | c.3285C>G (p.Arg1095=) n.862C>G c.*2383C>G (n.*2383C>G) n.2786C>G c.3234C>G (p.Arg1078=) c.2166C>G (p.Arg722=) c.3246C>G (p.Arg1082=) c.3144C>G (p.Arg1048=) c.2418C>G (p.Arg806=) | |
| 12 | g.21844513G>T | CA478870062 | ABCC9 | c.3285C>A (p.Arg1095=) n.862C>A c.*2383C>A (n.*2383C>A) n.2786C>A c.3234C>A (p.Arg1078=) c.2166C>A (p.Arg722=) c.3246C>A (p.Arg1082=) c.3144C>A (p.Arg1048=) c.2418C>A (p.Arg806=) | |
| 12 | g.21844514C>A | CA384118116 | ABCC9 | c.3284G>T (p.Arg1095Leu) n.861G>T c.*2382G>T (n.*2382G>T) n.2785G>T c.3233G>T (p.Arg1078Leu) c.2165G>T (p.Arg722Leu) c.3245G>T (p.Arg1082Leu) c.3143G>T (p.Arg1048Leu) c.2417G>T (p.Arg806Leu) | gnomAD v4 |
| 12 | g.21844514C= | CA2021314138 | ABCC9 | c.3284G= (p.Arg1095=) n.861G= c.*2382G= (n.*2382G=) n.2785G= c.3233G= (p.Arg1078=) c.2165G= (p.Arg722=) c.3245G= (p.Arg1082=) c.3143G= (p.Arg1048=) c.2417G= (p.Arg806=) | |
| 12 | g.21844514C>G | CA384118119 | ABCC9 | c.3284G>C (p.Arg1095Pro) n.861G>C c.*2382G>C (n.*2382G>C) n.2785G>C c.3233G>C (p.Arg1078Pro) c.2165G>C (p.Arg722Pro) c.3245G>C (p.Arg1082Pro) c.3143G>C (p.Arg1048Pro) c.2417G>C (p.Arg806Pro) | |
| 12 | g.21844514C>T | CA351874 | ABCC9 | c.3284G>A (p.Arg1095His) n.861G>A c.*2382G>A (n.*2382G>A) n.2785G>A c.3233G>A (p.Arg1078His) c.2165G>A (p.Arg722His) c.3245G>A (p.Arg1082His) c.3143G>A (p.Arg1048His) c.2417G>A (p.Arg806His) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.21844515G>A | CA6481143 | ABCC9 | c.3283C>T (p.Arg1095Cys) n.860C>T c.*2381C>T (n.*2381C>T) n.2784C>T c.3232C>T (p.Arg1078Cys) c.2164C>T (p.Arg722Cys) c.3244C>T (p.Arg1082Cys) c.3142C>T (p.Arg1048Cys) c.2416C>T (p.Arg806Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.21844515G>C | CA384118121 | ABCC9 | c.3283C>G (p.Arg1095Gly) n.860C>G c.*2381C>G (n.*2381C>G) n.2784C>G c.3232C>G (p.Arg1078Gly) c.2164C>G (p.Arg722Gly) c.3244C>G (p.Arg1082Gly) c.3142C>G (p.Arg1048Gly) c.2416C>G (p.Arg806Gly) | |
| 12 | g.21844515G= | CA2021314149 | ABCC9 | c.3283C= (p.Arg1095=) n.860C= c.*2381C= (n.*2381C=) n.2784C= c.3232C= (p.Arg1078=) c.2164C= (p.Arg722=) c.3244C= (p.Arg1082=) c.3142C= (p.Arg1048=) c.2416C= (p.Arg806=) | |
| 12 | g.21844515G>T | CA384118123 | ABCC9 | c.3283C>A (p.Arg1095Ser) n.860C>A c.*2381C>A (n.*2381C>A) n.2784C>A c.3232C>A (p.Arg1078Ser) c.2164C>A (p.Arg722Ser) c.3244C>A (p.Arg1082Ser) c.3142C>A (p.Arg1048Ser) c.2416C>A (p.Arg806Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.21844516A>C | CA384118124 | ABCC9 | c.3282T>G (p.Asn1094Lys) n.859T>G c.*2380T>G (n.*2380T>G) n.2783T>G c.3231T>G (p.Asn1077Lys) c.2163T>G (p.Asn721Lys) c.3243T>G (p.Asn1081Lys) c.3141T>G (p.Asn1047Lys) c.2415T>G (p.Asn805Lys) | |
| 12 | g.21844516A>G | CA478870063 | ABCC9 | c.3282T>C (p.Asn1094=) n.859T>C c.*2380T>C (n.*2380T>C) n.2783T>C c.3231T>C (p.Asn1077=) c.2163T>C (p.Asn721=) c.3243T>C (p.Asn1081=) c.3141T>C (p.Asn1047=) c.2415T>C (p.Asn805=) | |
| 12 | g.21844516A>T | CA384118126 | ABCC9 | c.3282T>A (p.Asn1094Lys) n.859T>A c.*2380T>A (n.*2380T>A) n.2783T>A c.3231T>A (p.Asn1077Lys) c.2163T>A (p.Asn721Lys) c.3243T>A (p.Asn1081Lys) c.3141T>A (p.Asn1047Lys) c.2415T>A (p.Asn805Lys) | |
| 12 | g.21844517T>A | CA384118128 | ABCC9 | c.3281A>T (p.Asn1094Ile) n.858A>T c.*2379A>T (n.*2379A>T) n.2782A>T c.3230A>T (p.Asn1077Ile) c.2162A>T (p.Asn721Ile) c.3242A>T (p.Asn1081Ile) c.3140A>T (p.Asn1047Ile) c.2414A>T (p.Asn805Ile) | |
| 12 | g.21844517T>C | CA233594248 | ABCC9 | c.3281A>G (p.Asn1094Ser) n.858A>G c.*2379A>G (n.*2379A>G) n.2782A>G c.3230A>G (p.Asn1077Ser) c.2162A>G (p.Asn721Ser) c.3242A>G (p.Asn1081Ser) c.3140A>G (p.Asn1047Ser) c.2414A>G (p.Asn805Ser) | dbSNP |
| 12 | g.21844517T>G | CA384118129 | ABCC9 | c.3281A>C (p.Asn1094Thr) n.858A>C c.*2379A>C (n.*2379A>C) n.2782A>C c.3230A>C (p.Asn1077Thr) c.2162A>C (p.Asn721Thr) c.3242A>C (p.Asn1081Thr) c.3140A>C (p.Asn1047Thr) c.2414A>C (p.Asn805Thr) | |
| 12 | g.21844517T= | CA2021314152 | ABCC9 | c.3281A= (p.Asn1094=) n.858A= c.*2379A= (n.*2379A=) n.2782A= c.3230A= (p.Asn1077=) c.2162A= (p.Asn721=) c.3242A= (p.Asn1081=) c.3140A= (p.Asn1047=) c.2414A= (p.Asn805=) | |
| 12 | g.21844518T>A | CA384118131 | ABCC9 | c.3280A>T (p.Asn1094Tyr) n.857A>T c.*2378A>T (n.*2378A>T) n.2781A>T c.3229A>T (p.Asn1077Tyr) c.2161A>T (p.Asn721Tyr) c.3241A>T (p.Asn1081Tyr) c.3139A>T (p.Asn1047Tyr) c.2413A>T (p.Asn805Tyr) | gnomAD v4 |
| 12 | g.21844518T>C | CA384118133 | ABCC9 | c.3280A>G (p.Asn1094Asp) n.857A>G c.*2378A>G (n.*2378A>G) n.2781A>G c.3229A>G (p.Asn1077Asp) c.2161A>G (p.Asn721Asp) c.3241A>G (p.Asn1081Asp) c.3139A>G (p.Asn1047Asp) c.2413A>G (p.Asn805Asp) | |
| 12 | g.21844518T>G | CA384118134 | ABCC9 | c.3280A>C (p.Asn1094His) n.857A>C c.*2378A>C (n.*2378A>C) n.2781A>C c.3229A>C (p.Asn1077His) c.2161A>C (p.Asn721His) c.3241A>C (p.Asn1081His) c.3139A>C (p.Asn1047His) c.2413A>C (p.Asn805His) | gnomAD v4 |
| 12 | g.21844519G>A | CA6481144 | ABCC9 | c.3279C>T (p.Leu1093=) n.856C>T c.*2377C>T (n.*2377C>T) n.2780C>T c.3228C>T (p.Leu1076=) c.2160C>T (p.Leu720=) c.3240C>T (p.Leu1080=) c.3138C>T (p.Leu1046=) c.2412C>T (p.Leu804=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.21844519G>C | CA478870065 | ABCC9 | c.3279C>G (p.Leu1093=) n.856C>G c.*2377C>G (n.*2377C>G) n.2780C>G c.3228C>G (p.Leu1076=) c.2160C>G (p.Leu720=) c.3240C>G (p.Leu1080=) c.3138C>G (p.Leu1046=) c.2412C>G (p.Leu804=) | |
| 12 | g.21844519G= | CA2021314156 | ABCC9 | c.3279C= (p.Leu1093=) n.856C= c.*2377C= (n.*2377C=) n.2780C= c.3228C= (p.Leu1076=) c.2160C= (p.Leu720=) c.3240C= (p.Leu1080=) c.3138C= (p.Leu1046=) c.2412C= (p.Leu804=) | |
| 12 | g.21844519G>T | CA478870066 | ABCC9 | c.3279C>A (p.Leu1093=) n.856C>A c.*2377C>A (n.*2377C>A) n.2780C>A c.3228C>A (p.Leu1076=) c.2160C>A (p.Leu720=) c.3240C>A (p.Leu1080=) c.3138C>A (p.Leu1046=) c.2412C>A (p.Leu804=) | gnomAD v4 |
| 12 | g.21844520A>C | CA384118140 | ABCC9 | c.3278T>G (p.Leu1093Arg) n.855T>G c.*2376T>G (n.*2376T>G) n.2779T>G c.3227T>G (p.Leu1076Arg) c.2159T>G (p.Leu720Arg) c.3239T>G (p.Leu1080Arg) c.3137T>G (p.Leu1046Arg) c.2411T>G (p.Leu804Arg) | |
| 12 | g.21844520A>G | CA384118136 | ABCC9 | c.3278T>C (p.Leu1093Pro) n.855T>C c.*2376T>C (n.*2376T>C) n.2779T>C c.3227T>C (p.Leu1076Pro) c.2159T>C (p.Leu720Pro) c.3239T>C (p.Leu1080Pro) c.3137T>C (p.Leu1046Pro) c.2411T>C (p.Leu804Pro) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21844520A>T | CA384118138 | ABCC9 | c.3278T>A (p.Leu1093His) n.855T>A c.*2376T>A (n.*2376T>A) n.2779T>A c.3227T>A (p.Leu1076His) c.2159T>A (p.Leu720His) c.3239T>A (p.Leu1080His) c.3137T>A (p.Leu1046His) c.2411T>A (p.Leu804His) | |
| 12 | g.21844521G>A | CA384118141 | ABCC9 | c.3277C>T (p.Leu1093Phe) n.854C>T c.*2375C>T (n.*2375C>T) n.2778C>T c.3226C>T (p.Leu1076Phe) c.2158C>T (p.Leu720Phe) c.3238C>T (p.Leu1080Phe) c.3136C>T (p.Leu1046Phe) c.2410C>T (p.Leu804Phe) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21844521G>C | CA384118142 | ABCC9 | c.3277C>G (p.Leu1093Val) n.854C>G c.*2375C>G (n.*2375C>G) n.2778C>G c.3226C>G (p.Leu1076Val) c.2158C>G (p.Leu720Val) c.3238C>G (p.Leu1080Val) c.3136C>G (p.Leu1046Val) c.2410C>G (p.Leu804Val) | ClinVar dbSNP |
| 12 | g.21844521G= | CA2021314161 | ABCC9 | c.3277C= (p.Leu1093=) n.854C= c.*2375C= (n.*2375C=) n.2778C= c.3226C= (p.Leu1076=) c.2158C= (p.Leu720=) c.3238C= (p.Leu1080=) c.3136C= (p.Leu1046=) c.2410C= (p.Leu804=) | |
| 12 | g.21844521G>T | CA384118144 | ABCC9 | c.3277C>A (p.Leu1093Ile) n.854C>A c.*2375C>A (n.*2375C>A) n.2778C>A c.3226C>A (p.Leu1076Ile) c.2158C>A (p.Leu720Ile) c.3238C>A (p.Leu1080Ile) c.3136C>A (p.Leu1046Ile) c.2410C>A (p.Leu804Ile) | |
| 12 | g.21844522A>C | CA384118145 | ABCC9 | c.3276T>G (p.Ile1092Met) n.853T>G c.*2374T>G (n.*2374T>G) n.2777T>G c.3225T>G (p.Ile1075Met) c.2157T>G (p.Ile719Met) c.3237T>G (p.Ile1079Met) c.3135T>G (p.Ile1045Met) c.2409T>G (p.Ile803Met) | |
| 12 | g.21844522A>G | CA478870068 | ABCC9 | c.3276T>C (p.Ile1092=) n.853T>C c.*2374T>C (n.*2374T>C) n.2777T>C c.3225T>C (p.Ile1075=) c.2157T>C (p.Ile719=) c.3237T>C (p.Ile1079=) c.3135T>C (p.Ile1045=) c.2409T>C (p.Ile803=) | |
| 12 | g.21844522A>T | CA478870069 | ABCC9 | c.3276T>A (p.Ile1092=) n.853T>A c.*2374T>A (n.*2374T>A) n.2777T>A c.3225T>A (p.Ile1075=) c.2157T>A (p.Ile719=) c.3237T>A (p.Ile1079=) c.3135T>A (p.Ile1045=) c.2409T>A (p.Ile803=) | |
| 12 | g.21844523A= | CA2021314168 | ABCC9 | c.3275T= (p.Ile1092=) n.852T= c.*2373T= (n.*2373T=) n.2776T= c.3224T= (p.Ile1075=) c.2156T= (p.Ile719=) c.3236T= (p.Ile1079=) c.3134T= (p.Ile1045=) c.2408T= (p.Ile803=) | |
| 12 | g.21844523A>C | CA6481145 | ABCC9 | c.3275T>G (p.Ile1092Ser) n.852T>G c.*2373T>G (n.*2373T>G) n.2776T>G c.3224T>G (p.Ile1075Ser) c.2156T>G (p.Ile719Ser) c.3236T>G (p.Ile1079Ser) c.3134T>G (p.Ile1045Ser) c.2408T>G (p.Ile803Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844523A>G | CA384118147 | ABCC9 | c.3275T>C (p.Ile1092Thr) n.852T>C c.*2373T>C (n.*2373T>C) n.2776T>C c.3224T>C (p.Ile1075Thr) c.2156T>C (p.Ile719Thr) c.3236T>C (p.Ile1079Thr) c.3134T>C (p.Ile1045Thr) c.2408T>C (p.Ile803Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844523A>T | CA6481146 | ABCC9 | c.3275T>A (p.Ile1092Asn) n.852T>A c.*2373T>A (n.*2373T>A) n.2776T>A c.3224T>A (p.Ile1075Asn) c.2156T>A (p.Ile719Asn) c.3236T>A (p.Ile1079Asn) c.3134T>A (p.Ile1045Asn) c.2408T>A (p.Ile803Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844524T>A | CA384118150 | ABCC9 | c.3274A>T (p.Ile1092Phe) n.851A>T c.*2372A>T (n.*2372A>T) n.2775A>T c.3223A>T (p.Ile1075Phe) c.2155A>T (p.Ile719Phe) c.3235A>T (p.Ile1079Phe) c.3133A>T (p.Ile1045Phe) c.2407A>T (p.Ile803Phe) | |
| 12 | g.21844524T>C | CA384118152 | ABCC9 | c.3274A>G (p.Ile1092Val) n.851A>G c.*2372A>G (n.*2372A>G) n.2775A>G c.3223A>G (p.Ile1075Val) c.2155A>G (p.Ile719Val) c.3235A>G (p.Ile1079Val) c.3133A>G (p.Ile1045Val) c.2407A>G (p.Ile803Val) | |
| 12 | g.21844524T>G | CA384118153 | ABCC9 | c.3274A>C (p.Ile1092Leu) n.851A>C c.*2372A>C (n.*2372A>C) n.2775A>C c.3223A>C (p.Ile1075Leu) c.2155A>C (p.Ile719Leu) c.3235A>C (p.Ile1079Leu) c.3133A>C (p.Ile1045Leu) c.2407A>C (p.Ile803Leu) | |
| 12 | g.21844525C>A | CA478870072 | ABCC9 | c.3273G>T (p.Leu1091=) n.850G>T c.*2371G>T (n.*2371G>T) n.2774G>T c.3222G>T (p.Leu1074=) c.2154G>T (p.Leu718=) c.3234G>T (p.Leu1078=) c.3132G>T (p.Leu1044=) c.2406G>T (p.Leu802=) | |
| 12 | g.21844525C= | CA2021314174 | ABCC9 | c.3273G= (p.Leu1091=) n.850G= c.*2371G= (n.*2371G=) n.2774G= c.3222G= (p.Leu1074=) c.2154G= (p.Leu718=) c.3234G= (p.Leu1078=) c.3132G= (p.Leu1044=) c.2406G= (p.Leu802=) | |
| 12 | g.21844525C>G | CA6481147 | ABCC9 | c.3273G>C (p.Leu1091=) n.850G>C c.*2371G>C (n.*2371G>C) n.2774G>C c.3222G>C (p.Leu1074=) c.2154G>C (p.Leu718=) c.3234G>C (p.Leu1078=) c.3132G>C (p.Leu1044=) c.2406G>C (p.Leu802=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844525C>T | CA478870071 | ABCC9 | c.3273G>A (p.Leu1091=) n.850G>A c.*2371G>A (n.*2371G>A) n.2774G>A c.3222G>A (p.Leu1074=) c.2154G>A (p.Leu718=) c.3234G>A (p.Leu1078=) c.3132G>A (p.Leu1044=) c.2406G>A (p.Leu802=) | ClinVar dbSNP |
| 12 | g.21844526A>C | CA384118158 | ABCC9 | c.3272T>G (p.Leu1091Arg) n.849T>G c.*2370T>G (n.*2370T>G) n.2773T>G c.3221T>G (p.Leu1074Arg) c.2153T>G (p.Leu718Arg) c.3233T>G (p.Leu1078Arg) c.3131T>G (p.Leu1044Arg) c.2405T>G (p.Leu802Arg) | |
| 12 | g.21844526A>G | CA384118157 | ABCC9 | c.3272T>C (p.Leu1091Pro) n.849T>C c.*2370T>C (n.*2370T>C) n.2773T>C c.3221T>C (p.Leu1074Pro) c.2153T>C (p.Leu718Pro) c.3233T>C (p.Leu1078Pro) c.3131T>C (p.Leu1044Pro) c.2405T>C (p.Leu802Pro) | |
| 12 | g.21844526A>T | CA384118155 | ABCC9 | c.3272T>A (p.Leu1091Gln) n.849T>A c.*2370T>A (n.*2370T>A) n.2773T>A c.3221T>A (p.Leu1074Gln) c.2153T>A (p.Leu718Gln) c.3233T>A (p.Leu1078Gln) c.3131T>A (p.Leu1044Gln) c.2405T>A (p.Leu802Gln) | |
| 12 | g.21844527G>A | CA478870074 | ABCC9 | c.3271C>T (p.Leu1091=) n.848C>T c.*2369C>T (n.*2369C>T) n.2772C>T c.3220C>T (p.Leu1074=) c.2152C>T (p.Leu718=) c.3232C>T (p.Leu1078=) c.3130C>T (p.Leu1044=) c.2404C>T (p.Leu802=) | |
| 12 | g.21844527G>C | CA384118160 | ABCC9 | c.3271C>G (p.Leu1091Val) n.848C>G c.*2369C>G (n.*2369C>G) n.2772C>G c.3220C>G (p.Leu1074Val) c.2152C>G (p.Leu718Val) c.3232C>G (p.Leu1078Val) c.3130C>G (p.Leu1044Val) c.2404C>G (p.Leu802Val) | |
| 12 | g.21844527G>T | CA384118161 | ABCC9 | c.3271C>A (p.Leu1091Met) n.848C>A c.*2369C>A (n.*2369C>A) n.2772C>A c.3220C>A (p.Leu1074Met) c.2152C>A (p.Leu718Met) c.3232C>A (p.Leu1078Met) c.3130C>A (p.Leu1044Met) c.2404C>A (p.Leu802Met) | |
| 12 | g.21844528T>A | CA478870077 | ABCC9 | c.3270A>T (p.Gly1090=) n.847A>T c.*2368A>T (n.*2368A>T) n.2771A>T c.3219A>T (p.Gly1073=) c.2151A>T (p.Gly717=) c.3231A>T (p.Gly1077=) c.3129A>T (p.Gly1043=) c.2403A>T (p.Gly801=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844528T>C | CA478870078 | ABCC9 | c.3270A>G (p.Gly1090=) n.847A>G c.*2368A>G (n.*2368A>G) n.2771A>G c.3219A>G (p.Gly1073=) c.2151A>G (p.Gly717=) c.3231A>G (p.Gly1077=) c.3129A>G (p.Gly1043=) c.2403A>G (p.Gly801=) | |
| 12 | g.21844528T>G | CA478870079 | ABCC9 | c.3270A>C (p.Gly1090=) n.847A>C c.*2368A>C (n.*2368A>C) n.2771A>C c.3219A>C (p.Gly1073=) c.2151A>C (p.Gly717=) c.3231A>C (p.Gly1077=) c.3129A>C (p.Gly1043=) c.2403A>C (p.Gly801=) | |
| 12 | g.21844528T= | CA2021314178 | ABCC9 | c.3270A= (p.Gly1090=) n.847A= c.*2368A= (n.*2368A=) n.2771A= c.3219A= (p.Gly1073=) c.2151A= (p.Gly717=) c.3231A= (p.Gly1077=) c.3129A= (p.Gly1043=) c.2403A= (p.Gly801=) | |
| 12 | g.21844528_21844529delinsTC | CA2021314180 | ABCC9 | c.3269_3270delinsGA (p.Gly1090=) n.846_847delinsGA c.*2367_*2368delinsGA (n.*2367_*2368delinsGA) n.2770_2771delinsGA c.3218_3219delinsGA (p.Gly1073=) c.2150_2151delinsGA (p.Gly717=) c.3230_3231delinsGA (p.Gly1077=) c.3128_3129delinsGA (p.Gly1043=) c.2402_2403delinsGA (p.Gly801=) | |
| 12 | g.21844529C>A | CA384118163 | ABCC9 | c.3269G>T (p.Gly1090Val) n.846G>T c.*2367G>T (n.*2367G>T) n.2770G>T c.3218G>T (p.Gly1073Val) c.2150G>T (p.Gly717Val) c.3230G>T (p.Gly1077Val) c.3128G>T (p.Gly1043Val) c.2402G>T (p.Gly801Val) | |
| 12 | g.21844529C>G | CA384118164 | ABCC9 | c.3269G>C (p.Gly1090Ala) n.846G>C c.*2367G>C (n.*2367G>C) n.2770G>C c.3218G>C (p.Gly1073Ala) c.2150G>C (p.Gly717Ala) c.3230G>C (p.Gly1077Ala) c.3128G>C (p.Gly1043Ala) c.2402G>C (p.Gly801Ala) | |
| 12 | g.21844529C>T | CA384118166 | ABCC9 | c.3269G>A (p.Gly1090Glu) n.846G>A c.*2367G>A (n.*2367G>A) n.2770G>A c.3218G>A (p.Gly1073Glu) c.2150G>A (p.Gly717Glu) c.3230G>A (p.Gly1077Glu) c.3128G>A (p.Gly1043Glu) c.2402G>A (p.Gly801Glu) | COSMIC COSMIC |
| 12 | g.21844531del | CA603664042 | ABCC9 | c.3269del (p.Gly1090AspfsTer2) n.846del c.*2367del (n.*2367del) n.2770del c.3218del (p.Gly1073AspfsTer2) c.2150del (p.Gly717AspfsTer2) c.3230del (p.Gly1077AspfsTer2) c.3128del (p.Gly1043AspfsTer2) c.2402del (p.Gly801AspfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844530C>A | CA384118168 | ABCC9 | c.3268G>T (p.Gly1090Ter) n.845G>T c.*2366G>T (n.*2366G>T) n.2769G>T c.3217G>T (p.Gly1073Ter) c.2149G>T (p.Gly717Ter) c.3229G>T (p.Gly1077Ter) c.3127G>T (p.Gly1043Ter) c.2401G>T (p.Gly801Ter) | |
| 12 | g.21844530C= | CA2021314187 | ABCC9 | c.3268G= (p.Gly1090=) n.845G= c.*2366G= (n.*2366G=) n.2769G= c.3217G= (p.Gly1073=) c.2149G= (p.Gly717=) c.3229G= (p.Gly1077=) c.3127G= (p.Gly1043=) c.2401G= (p.Gly801=) | |
| 12 | g.21844530C>G | CA384118170 | ABCC9 | c.3268G>C (p.Gly1090Arg) n.845G>C c.*2366G>C (n.*2366G>C) n.2769G>C c.3217G>C (p.Gly1073Arg) c.2149G>C (p.Gly717Arg) c.3229G>C (p.Gly1077Arg) c.3127G>C (p.Gly1043Arg) c.2401G>C (p.Gly801Arg) | |
| 12 | g.21844530C>T | CA384118171 | ABCC9 | c.3268G>A (p.Gly1090Arg) n.845G>A c.*2366G>A (n.*2366G>A) n.2769G>A c.3217G>A (p.Gly1073Arg) c.2149G>A (p.Gly717Arg) c.3229G>A (p.Gly1077Arg) c.3127G>A (p.Gly1043Arg) c.2401G>A (p.Gly801Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844531C>A | CA478870080 | ABCC9 | c.3267G>T (p.Leu1089=) n.844G>T c.*2365G>T (n.*2365G>T) n.2768G>T c.3216G>T (p.Leu1072=) c.2148G>T (p.Leu716=) c.3228G>T (p.Leu1076=) c.3126G>T (p.Leu1042=) c.2400G>T (p.Leu800=) | |
| 12 | g.21844531C= | CA2021314191 | ABCC9 | c.3267G= (p.Leu1089=) n.844G= c.*2365G= (n.*2365G=) n.2768G= c.3216G= (p.Leu1072=) c.2148G= (p.Leu716=) c.3228G= (p.Leu1076=) c.3126G= (p.Leu1042=) c.2400G= (p.Leu800=) | |
| 12 | g.21844531C>G | CA478870081 | ABCC9 | c.3267G>C (p.Leu1089=) n.844G>C c.*2365G>C (n.*2365G>C) n.2768G>C c.3216G>C (p.Leu1072=) c.2148G>C (p.Leu716=) c.3228G>C (p.Leu1076=) c.3126G>C (p.Leu1042=) c.2400G>C (p.Leu800=) | |
| 12 | g.21844531C>T | CA6481148 | ABCC9 | c.3267G>A (p.Leu1089=) n.844G>A c.*2365G>A (n.*2365G>A) n.2768G>A c.3216G>A (p.Leu1072=) c.2148G>A (p.Leu716=) c.3228G>A (p.Leu1076=) c.3126G>A (p.Leu1042=) c.2400G>A (p.Leu800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21844532A= | CA2021314196 | ABCC9 | c.3266T= (p.Leu1089=) n.843T= c.*2364T= (n.*2364T=) n.2767T= c.3215T= (p.Leu1072=) c.2147T= (p.Leu716=) c.3227T= (p.Leu1076=) c.3125T= (p.Leu1042=) c.2399T= (p.Leu800=) | |
| 12 | g.21844532A>C | CA384118174 | ABCC9 | c.3266T>G (p.Leu1089Arg) n.843T>G c.*2364T>G (n.*2364T>G) n.2767T>G c.3215T>G (p.Leu1072Arg) c.2147T>G (p.Leu716Arg) c.3227T>G (p.Leu1076Arg) c.3125T>G (p.Leu1042Arg) c.2399T>G (p.Leu800Arg) | |
| 12 | g.21844532A>G | CA384118175 | ABCC9 | c.3266T>C (p.Leu1089Pro) n.843T>C c.*2364T>C (n.*2364T>C) n.2767T>C c.3215T>C (p.Leu1072Pro) c.2147T>C (p.Leu716Pro) c.3227T>C (p.Leu1076Pro) c.3125T>C (p.Leu1042Pro) c.2399T>C (p.Leu800Pro) | |
| 12 | g.21844532A>T | CA384118177 | ABCC9 | c.3266T>A (p.Leu1089Gln) n.843T>A c.*2364T>A (n.*2364T>A) n.2767T>A c.3215T>A (p.Leu1072Gln) c.2147T>A (p.Leu716Gln) c.3227T>A (p.Leu1076Gln) c.3125T>A (p.Leu1042Gln) c.2399T>A (p.Leu800Gln) | ClinVar dbSNP |
| 12 | g.21844533G>A | CA478870083 | ABCC9 | c.3265C>T (p.Leu1089=) n.842C>T c.*2363C>T (n.*2363C>T) n.2766C>T c.3214C>T (p.Leu1072=) c.2146C>T (p.Leu716=) c.3226C>T (p.Leu1076=) c.3124C>T (p.Leu1042=) c.2398C>T (p.Leu800=) | COSMIC COSMIC |
| 12 | g.21844533G>C | CA384118179 | ABCC9 | c.3265C>G (p.Leu1089Val) n.842C>G c.*2363C>G (n.*2363C>G) n.2766C>G c.3214C>G (p.Leu1072Val) c.2146C>G (p.Leu716Val) c.3226C>G (p.Leu1076Val) c.3124C>G (p.Leu1042Val) c.2398C>G (p.Leu800Val) | ClinVar dbSNP |
| 12 | g.21844533G= | CA2021314203 | ABCC9 | c.3265C= (p.Leu1089=) n.842C= c.*2363C= (n.*2363C=) n.2766C= c.3214C= (p.Leu1072=) c.2146C= (p.Leu716=) c.3226C= (p.Leu1076=) c.3124C= (p.Leu1042=) c.2398C= (p.Leu800=) | |
| 12 | g.21844533G>T | CA384118180 | ABCC9 | c.3265C>A (p.Leu1089Met) n.842C>A c.*2363C>A (n.*2363C>A) n.2766C>A c.3214C>A (p.Leu1072Met) c.2146C>A (p.Leu716Met) c.3226C>A (p.Leu1076Met) c.3124C>A (p.Leu1042Met) c.2398C>A (p.Leu800Met) | |
| 12 | g.21844534G>A | CA6481149 | ABCC9 | c.3264C>T (p.Pro1088=) n.841C>T c.*2362C>T (n.*2362C>T) n.2765C>T c.3213C>T (p.Pro1071=) c.2145C>T (p.Pro715=) c.3225C>T (p.Pro1075=) c.3123C>T (p.Pro1041=) c.2397C>T (p.Pro799=) | dbSNP ExAC gnomAD v4 COSMIC COSMIC |
| 12 | g.21844534G>C | CA478870084 | ABCC9 | c.3264C>G (p.Pro1088=) n.841C>G c.*2362C>G (n.*2362C>G) n.2765C>G c.3213C>G (p.Pro1071=) c.2145C>G (p.Pro715=) c.3225C>G (p.Pro1075=) c.3123C>G (p.Pro1041=) c.2397C>G (p.Pro799=) | dbSNP gnomAD v2 |
| 12 | g.21844534G= | CA2021314206 | ABCC9 | c.3264C= (p.Pro1088=) n.841C= c.*2362C= (n.*2362C=) n.2765C= c.3213C= (p.Pro1071=) c.2145C= (p.Pro715=) c.3225C= (p.Pro1075=) c.3123C= (p.Pro1041=) c.2397C= (p.Pro799=) | |
| 12 | g.21844534G>T | CA478870085 | ABCC9 | c.3264C>A (p.Pro1088=) n.841C>A c.*2362C>A (n.*2362C>A) n.2765C>A c.3213C>A (p.Pro1071=) c.2145C>A (p.Pro715=) c.3225C>A (p.Pro1075=) c.3123C>A (p.Pro1041=) c.2397C>A (p.Pro799=) | dbSNP gnomAD v4 |
| 12 | g.21844535G>A | CA384118183 | ABCC9 | c.3263C>T (p.Pro1088Leu) n.840C>T c.*2361C>T (n.*2361C>T) n.2764C>T c.3212C>T (p.Pro1071Leu) c.2144C>T (p.Pro715Leu) c.3224C>T (p.Pro1075Leu) c.3122C>T (p.Pro1041Leu) c.2396C>T (p.Pro799Leu) | |
| 12 | g.21844535G>C | CA384118185 | ABCC9 | c.3263C>G (p.Pro1088Arg) n.840C>G c.*2361C>G (n.*2361C>G) n.2764C>G c.3212C>G (p.Pro1071Arg) c.2144C>G (p.Pro715Arg) c.3224C>G (p.Pro1075Arg) c.3122C>G (p.Pro1041Arg) c.2396C>G (p.Pro799Arg) | |
| 12 | g.21844535G>T | CA384118184 | ABCC9 | c.3263C>A (p.Pro1088His) n.840C>A c.*2361C>A (n.*2361C>A) n.2764C>A c.3212C>A (p.Pro1071His) c.2144C>A (p.Pro715His) c.3224C>A (p.Pro1075His) c.3122C>A (p.Pro1041His) c.2396C>A (p.Pro799His) | gnomAD v4 |
| 12 | g.21844536G>A | CA384118187 | ABCC9 | c.3262C>T (p.Pro1088Ser) n.839C>T c.*2360C>T (n.*2360C>T) n.2763C>T c.3211C>T (p.Pro1071Ser) c.2143C>T (p.Pro715Ser) c.3223C>T (p.Pro1075Ser) c.3121C>T (p.Pro1041Ser) c.2395C>T (p.Pro799Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21844536G>C | CA384118189 | ABCC9 | c.3262C>G (p.Pro1088Ala) n.839C>G c.*2360C>G (n.*2360C>G) n.2763C>G c.3211C>G (p.Pro1071Ala) c.2143C>G (p.Pro715Ala) c.3223C>G (p.Pro1075Ala) c.3121C>G (p.Pro1041Ala) c.2395C>G (p.Pro799Ala) | |
| 12 | g.21844536G= | CA2021314212 | ABCC9 | c.3262C= (p.Pro1088=) n.839C= c.*2360C= (n.*2360C=) n.2763C= c.3211C= (p.Pro1071=) c.2143C= (p.Pro715=) c.3223C= (p.Pro1075=) c.3121C= (p.Pro1041=) c.2395C= (p.Pro799=) | |
| 12 | g.21844536G>T | CA384118190 | ABCC9 | c.3262C>A (p.Pro1088Thr) n.839C>A c.*2360C>A (n.*2360C>A) n.2763C>A c.3211C>A (p.Pro1071Thr) c.2143C>A (p.Pro715Thr) c.3223C>A (p.Pro1075Thr) c.3121C>A (p.Pro1041Thr) c.2395C>A (p.Pro799Thr) | |
| 12 | g.21844537T>A | CA478870088 | ABCC9 | c.3261A>T (p.Thr1087=) n.838A>T c.*2359A>T (n.*2359A>T) n.2762A>T c.3210A>T (p.Thr1070=) c.2142A>T (p.Thr714=) c.3222A>T (p.Thr1074=) c.3120A>T (p.Thr1040=) c.2394A>T (p.Thr798=) | |
| 12 | g.21844537T>C | CA478870089 | ABCC9 | c.3261A>G (p.Thr1087=) n.838A>G c.*2359A>G (n.*2359A>G) n.2762A>G c.3210A>G (p.Thr1070=) c.2142A>G (p.Thr714=) c.3222A>G (p.Thr1074=) c.3120A>G (p.Thr1040=) c.2394A>G (p.Thr798=) | COSMIC COSMIC |
| 12 | g.21844537T>G | CA478870090 | ABCC9 | c.3261A>C (p.Thr1087=) n.838A>C c.*2359A>C (n.*2359A>C) n.2762A>C c.3210A>C (p.Thr1070=) c.2142A>C (p.Thr714=) c.3222A>C (p.Thr1074=) c.3120A>C (p.Thr1040=) c.2394A>C (p.Thr798=) | |
| 12 | g.21844538G>A | CA384118192 | ABCC9 | c.3260C>T (p.Thr1087Ile) n.837C>T c.*2358C>T (n.*2358C>T) n.2761C>T c.3209C>T (p.Thr1070Ile) c.2141C>T (p.Thr714Ile) c.3221C>T (p.Thr1074Ile) c.3119C>T (p.Thr1040Ile) c.2393C>T (p.Thr798Ile) | |
| 12 | g.21844538G>C | CA384118193 | ABCC9 | c.3260C>G (p.Thr1087Arg) n.837C>G c.*2358C>G (n.*2358C>G) n.2761C>G c.3209C>G (p.Thr1070Arg) c.2141C>G (p.Thr714Arg) c.3221C>G (p.Thr1074Arg) c.3119C>G (p.Thr1040Arg) c.2393C>G (p.Thr798Arg) | |
| 12 | g.21844538G>T | CA384118194 | ABCC9 | c.3260C>A (p.Thr1087Lys) n.837C>A c.*2358C>A (n.*2358C>A) n.2761C>A c.3209C>A (p.Thr1070Lys) c.2141C>A (p.Thr714Lys) c.3221C>A (p.Thr1074Lys) c.3119C>A (p.Thr1040Lys) c.2393C>A (p.Thr798Lys) | |
| 12 | g.21844539T>A | CA384118196 | ABCC9 | c.3259A>T (p.Thr1087Ser) n.836A>T c.*2357A>T (n.*2357A>T) n.2760A>T c.3208A>T (p.Thr1070Ser) c.2140A>T (p.Thr714Ser) c.3220A>T (p.Thr1074Ser) c.3118A>T (p.Thr1040Ser) c.2392A>T (p.Thr798Ser) | |
| 12 | g.21844539T>C | CA384118197 | ABCC9 | c.3259A>G (p.Thr1087Ala) n.836A>G c.*2357A>G (n.*2357A>G) n.2760A>G c.3208A>G (p.Thr1070Ala) c.2140A>G (p.Thr714Ala) c.3220A>G (p.Thr1074Ala) c.3118A>G (p.Thr1040Ala) c.2392A>G (p.Thr798Ala) | COSMIC COSMIC |
| 12 | g.21844539T>G | CA384118198 | ABCC9 | c.3259A>C (p.Thr1087Pro) n.836A>C c.*2357A>C (n.*2357A>C) n.2760A>C c.3208A>C (p.Thr1070Pro) c.2140A>C (p.Thr714Pro) c.3220A>C (p.Thr1074Pro) c.3118A>C (p.Thr1040Pro) c.2392A>C (p.Thr798Pro) | |
| 12 | g.21844540G>A | CA478870091 | ABCC9 | c.3258C>T (p.Thr1086=) n.835C>T c.*2356C>T (n.*2356C>T) n.2759C>T c.3207C>T (p.Thr1069=) c.2139C>T (p.Thr713=) c.3219C>T (p.Thr1073=) c.3117C>T (p.Thr1039=) c.2391C>T (p.Thr797=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21844540G>C | CA478870092 | ABCC9 | c.3258C>G (p.Thr1086=) n.835C>G c.*2356C>G (n.*2356C>G) n.2759C>G c.3207C>G (p.Thr1069=) c.2139C>G (p.Thr713=) c.3219C>G (p.Thr1073=) c.3117C>G (p.Thr1039=) c.2391C>G (p.Thr797=) | |
| 12 | g.21844540G= | CA2021314218 | ABCC9 | c.3258C= (p.Thr1086=) n.835C= c.*2356C= (n.*2356C=) n.2759C= c.3207C= (p.Thr1069=) c.2139C= (p.Thr713=) c.3219C= (p.Thr1073=) c.3117C= (p.Thr1039=) c.2391C= (p.Thr797=) | |
| 12 | g.21844540G>T | CA478870093 | ABCC9 | c.3258C>A (p.Thr1086=) n.835C>A c.*2356C>A (n.*2356C>A) n.2759C>A c.3207C>A (p.Thr1069=) c.2139C>A (p.Thr713=) c.3219C>A (p.Thr1073=) c.3117C>A (p.Thr1039=) c.2391C>A (p.Thr797=) | |
| 12 | g.21844541G>A | CA384118200 | ABCC9 | c.3257C>T (p.Thr1086Ile) n.834C>T c.*2355C>T (n.*2355C>T) n.2758C>T c.3206C>T (p.Thr1069Ile) c.2138C>T (p.Thr713Ile) c.3218C>T (p.Thr1073Ile) c.3116C>T (p.Thr1039Ile) c.2390C>T (p.Thr797Ile) | |
| 12 | g.21844541G>C | CA384118201 | ABCC9 | c.3257C>G (p.Thr1086Ser) n.834C>G c.*2355C>G (n.*2355C>G) n.2758C>G c.3206C>G (p.Thr1069Ser) c.2138C>G (p.Thr713Ser) c.3218C>G (p.Thr1073Ser) c.3116C>G (p.Thr1039Ser) c.2390C>G (p.Thr797Ser) | |
| 12 | g.21844541G= | CA2021314222 | ABCC9 | c.3257C= (p.Thr1086=) n.834C= c.*2355C= (n.*2355C=) n.2758C= c.3206C= (p.Thr1069=) c.2138C= (p.Thr713=) c.3218C= (p.Thr1073=) c.3116C= (p.Thr1039=) c.2390C= (p.Thr797=) | |
| 12 | g.21844541G>T | CA384118203 | ABCC9 | c.3257C>A (p.Thr1086Asn) n.834C>A c.*2355C>A (n.*2355C>A) n.2758C>A c.3206C>A (p.Thr1069Asn) c.2138C>A (p.Thr713Asn) c.3218C>A (p.Thr1073Asn) c.3116C>A (p.Thr1039Asn) c.2390C>A (p.Thr797Asn) | ClinVar dbSNP |
| 12 | g.21844542T>A | CA384118207 | ABCC9 | c.3256A>T (p.Thr1086Ser) n.833A>T c.*2354A>T (n.*2354A>T) n.2757A>T c.3205A>T (p.Thr1069Ser) c.2137A>T (p.Thr713Ser) c.3217A>T (p.Thr1073Ser) c.3115A>T (p.Thr1039Ser) c.2389A>T (p.Thr797Ser) | |
| 12 | g.21844542T>C | CA384118204 | ABCC9 | c.3256A>G (p.Thr1086Ala) n.833A>G c.*2354A>G (n.*2354A>G) n.2757A>G c.3205A>G (p.Thr1069Ala) c.2137A>G (p.Thr713Ala) c.3217A>G (p.Thr1073Ala) c.3115A>G (p.Thr1039Ala) c.2389A>G (p.Thr797Ala) | |
| 12 | g.21844542T>G | CA384118205 | ABCC9 | c.3256A>C (p.Thr1086Pro) n.833A>C c.*2354A>C (n.*2354A>C) n.2757A>C c.3205A>C (p.Thr1069Pro) c.2137A>C (p.Thr713Pro) c.3217A>C (p.Thr1073Pro) c.3115A>C (p.Thr1039Pro) c.2389A>C (p.Thr797Pro) | |
| 12 | g.21844543A>C | CA384118208 | ABCC9 | c.3255T>G (p.Asp1085Glu) n.832T>G c.*2353T>G (n.*2353T>G) n.2756T>G c.3204T>G (p.Asp1068Glu) c.2136T>G (p.Asp712Glu) c.3216T>G (p.Asp1072Glu) c.3114T>G (p.Asp1038Glu) c.2388T>G (p.Asp796Glu) | |
| 12 | g.21844543A>G | CA478870097 | ABCC9 | c.3255T>C (p.Asp1085=) n.832T>C c.*2353T>C (n.*2353T>C) n.2756T>C c.3204T>C (p.Asp1068=) c.2136T>C (p.Asp712=) c.3216T>C (p.Asp1072=) c.3114T>C (p.Asp1038=) c.2388T>C (p.Asp796=) | gnomAD v4 |
| 12 | g.21844543A>T | CA384118209 | ABCC9 | c.3255T>A (p.Asp1085Glu) n.832T>A c.*2353T>A (n.*2353T>A) n.2756T>A c.3204T>A (p.Asp1068Glu) c.2136T>A (p.Asp712Glu) c.3216T>A (p.Asp1072Glu) c.3114T>A (p.Asp1038Glu) c.2388T>A (p.Asp796Glu) | |
| 12 | g.21844544T>A | CA384118211 | ABCC9 | c.3254A>T (p.Asp1085Val) n.831A>T c.*2352A>T (n.*2352A>T) n.2755A>T c.3203A>T (p.Asp1068Val) c.2135A>T (p.Asp712Val) c.3215A>T (p.Asp1072Val) c.3113A>T (p.Asp1038Val) c.2387A>T (p.Asp796Val) | |
| 12 | g.21844544T>C | CA384118212 | ABCC9 | c.3254A>G (p.Asp1085Gly) n.831A>G c.*2352A>G (n.*2352A>G) n.2755A>G c.3203A>G (p.Asp1068Gly) c.2135A>G (p.Asp712Gly) c.3215A>G (p.Asp1072Gly) c.3113A>G (p.Asp1038Gly) c.2387A>G (p.Asp796Gly) | |
| 12 | g.21844544T>G | CA384118214 | ABCC9 | c.3254A>C (p.Asp1085Ala) n.831A>C c.*2352A>C (n.*2352A>C) n.2755A>C c.3203A>C (p.Asp1068Ala) c.2135A>C (p.Asp712Ala) c.3215A>C (p.Asp1072Ala) c.3113A>C (p.Asp1038Ala) c.2387A>C (p.Asp796Ala) | |
| 12 | g.21844545C>A | CA384118215 | ABCC9 | c.3253G>T (p.Asp1085Tyr) n.830G>T c.*2351G>T (n.*2351G>T) n.2754G>T c.3202G>T (p.Asp1068Tyr) c.2134G>T (p.Asp712Tyr) c.3214G>T (p.Asp1072Tyr) c.3112G>T (p.Asp1038Tyr) c.2386G>T (p.Asp796Tyr) | |
| 12 | g.21844545C>G | CA384118217 | ABCC9 | c.3253G>C (p.Asp1085His) n.830G>C c.*2351G>C (n.*2351G>C) n.2754G>C c.3202G>C (p.Asp1068His) c.2134G>C (p.Asp712His) c.3214G>C (p.Asp1072His) c.3112G>C (p.Asp1038His) c.2386G>C (p.Asp796His) | |
| 12 | g.21844545C>T | CA384118218 | ABCC9 | c.3253G>A (p.Asp1085Asn) n.830G>A c.*2351G>A (n.*2351G>A) n.2754G>A c.3202G>A (p.Asp1068Asn) c.2134G>A (p.Asp712Asn) c.3214G>A (p.Asp1072Asn) c.3112G>A (p.Asp1038Asn) c.2386G>A (p.Asp796Asn) | |
| 12 | g.21844545_21844546delinsCA | CA2021314226 | ABCC9 | c.3252_3253delinsTG (p.Phe1084=) n.829_830delinsTG c.*2350_*2351delinsTG (n.*2350_*2351delinsTG) n.2753_2754delinsTG c.3201_3202delinsTG (p.Phe1067=) c.2133_2134delinsTG (p.Phe711=) c.3213_3214delinsTG (p.Phe1071=) c.3111_3112delinsTG (p.Phe1037=) c.2385_2386delinsTG (p.Phe795=) | |
| 12 | g.21844546A= | CA2021314231 | ABCC9 | c.3252T= (p.Phe1084=) n.829T= c.*2350T= (n.*2350T=) n.2753T= c.3201T= (p.Phe1067=) c.2133T= (p.Phe711=) c.3213T= (p.Phe1071=) c.3111T= (p.Phe1037=) c.2385T= (p.Phe795=) | |
| 12 | g.21844546A>C | CA384118220 | ABCC9 | c.3252T>G (p.Phe1084Leu) n.829T>G c.*2350T>G (n.*2350T>G) n.2753T>G c.3201T>G (p.Phe1067Leu) c.2133T>G (p.Phe711Leu) c.3213T>G (p.Phe1071Leu) c.3111T>G (p.Phe1037Leu) c.2385T>G (p.Phe795Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.21844546A>G | CA478870100 | ABCC9 | c.3252T>C (p.Phe1084=) n.829T>C c.*2350T>C (n.*2350T>C) n.2753T>C c.3201T>C (p.Phe1067=) c.2133T>C (p.Phe711=) c.3213T>C (p.Phe1071=) c.3111T>C (p.Phe1037=) c.2385T>C (p.Phe795=) | |
| 12 | g.21844546A>T | CA384118221 | ABCC9 | c.3252T>A (p.Phe1084Leu) n.829T>A c.*2350T>A (n.*2350T>A) n.2753T>A c.3201T>A (p.Phe1067Leu) c.2133T>A (p.Phe711Leu) c.3213T>A (p.Phe1071Leu) c.3111T>A (p.Phe1037Leu) c.2385T>A (p.Phe795Leu) | |
| 12 | g.21844551del | CA686428319 | ABCC9 | c.3252del (p.Phe1084LeufsTer8) n.829del c.*2350del (n.*2350del) n.2753del c.3201del (p.Phe1067LeufsTer8) c.2133del (p.Phe711LeufsTer8) c.3213del (p.Phe1071LeufsTer8) c.3111del (p.Phe1037LeufsTer8) c.2385del (p.Phe795LeufsTer8) | dbSNP |
| 12 | g.21844547A>C | CA384118223 | ABCC9 | c.3251T>G (p.Phe1084Cys) n.828T>G c.*2349T>G (n.*2349T>G) n.2752T>G c.3200T>G (p.Phe1067Cys) c.2132T>G (p.Phe711Cys) c.3212T>G (p.Phe1071Cys) c.3110T>G (p.Phe1037Cys) c.2384T>G (p.Phe795Cys) | |
| 12 | g.21844547A>G | CA384118225 | ABCC9 | c.3251T>C (p.Phe1084Ser) n.828T>C c.*2349T>C (n.*2349T>C) n.2752T>C c.3200T>C (p.Phe1067Ser) c.2132T>C (p.Phe711Ser) c.3212T>C (p.Phe1071Ser) c.3110T>C (p.Phe1037Ser) c.2384T>C (p.Phe795Ser) | |
| 12 | g.21844547A>T | CA384118226 | ABCC9 | c.3251T>A (p.Phe1084Tyr) n.828T>A c.*2349T>A (n.*2349T>A) n.2752T>A c.3200T>A (p.Phe1067Tyr) c.2132T>A (p.Phe711Tyr) c.3212T>A (p.Phe1071Tyr) c.3110T>A (p.Phe1037Tyr) c.2384T>A (p.Phe795Tyr) | |
| 12 | g.21844548A>C | CA384118231 | ABCC9 | c.3250T>G (p.Phe1084Val) n.827T>G c.*2348T>G (n.*2348T>G) n.2751T>G c.3199T>G (p.Phe1067Val) c.2131T>G (p.Phe711Val) c.3211T>G (p.Phe1071Val) c.3109T>G (p.Phe1037Val) c.2383T>G (p.Phe795Val) | COSMIC COSMIC |
| 12 | g.21844548A>G | CA384118229 | ABCC9 | c.3250T>C (p.Phe1084Leu) n.827T>C c.*2348T>C (n.*2348T>C) n.2751T>C c.3199T>C (p.Phe1067Leu) c.2131T>C (p.Phe711Leu) c.3211T>C (p.Phe1071Leu) c.3109T>C (p.Phe1037Leu) c.2383T>C (p.Phe795Leu) | |
| 12 | g.21844548A>T | CA384118228 | ABCC9 | c.3250T>A (p.Phe1084Ile) n.827T>A c.*2348T>A (n.*2348T>A) n.2751T>A c.3199T>A (p.Phe1067Ile) c.2131T>A (p.Phe711Ile) c.3211T>A (p.Phe1071Ile) c.3109T>A (p.Phe1037Ile) c.2383T>A (p.Phe795Ile) | |
| 12 | g.21844549A= | CA2021314236 | ABCC9 | c.3249T= (p.Phe1083=) n.826T= c.*2347T= (n.*2347T=) n.2750T= c.3198T= (p.Phe1066=) c.2130T= (p.Phe710=) c.3210T= (p.Phe1070=) c.3108T= (p.Phe1036=) c.2382T= (p.Phe794=) | |
| 12 | g.21844549A>C | CA384118232 | ABCC9 | c.3249T>G (p.Phe1083Leu) n.826T>G c.*2347T>G (n.*2347T>G) n.2750T>G c.3198T>G (p.Phe1066Leu) c.2130T>G (p.Phe710Leu) c.3210T>G (p.Phe1070Leu) c.3108T>G (p.Phe1036Leu) c.2382T>G (p.Phe794Leu) | |
| 12 | g.21844549A>G | CA478870101 | ABCC9 | c.3249T>C (p.Phe1083=) n.826T>C c.*2347T>C (n.*2347T>C) n.2750T>C c.3198T>C (p.Phe1066=) c.2130T>C (p.Phe710=) c.3210T>C (p.Phe1070=) c.3108T>C (p.Phe1036=) c.2382T>C (p.Phe794=) | dbSNP gnomAD v4 |
| 12 | g.21844549A>T | CA384118234 | ABCC9 | c.3249T>A (p.Phe1083Leu) n.826T>A c.*2347T>A (n.*2347T>A) n.2750T>A c.3198T>A (p.Phe1066Leu) c.2130T>A (p.Phe710Leu) c.3210T>A (p.Phe1070Leu) c.3108T>A (p.Phe1036Leu) c.2382T>A (p.Phe794Leu) | |
| 12 | g.21844550A>C | CA384118235 | ABCC9 | c.3248T>G (p.Phe1083Cys) n.825T>G c.*2346T>G (n.*2346T>G) n.2749T>G c.3197T>G (p.Phe1066Cys) c.2129T>G (p.Phe710Cys) c.3209T>G (p.Phe1070Cys) c.3107T>G (p.Phe1036Cys) c.2381T>G (p.Phe794Cys) | gnomAD v4 |
| 12 | g.21844550A>G | CA384118237 | ABCC9 | c.3248T>C (p.Phe1083Ser) n.825T>C c.*2346T>C (n.*2346T>C) n.2749T>C c.3197T>C (p.Phe1066Ser) c.2129T>C (p.Phe710Ser) c.3209T>C (p.Phe1070Ser) c.3107T>C (p.Phe1036Ser) c.2381T>C (p.Phe794Ser) | |
| 12 | g.21844550A>T | CA384118239 | ABCC9 | c.3248T>A (p.Phe1083Tyr) n.825T>A c.*2346T>A (n.*2346T>A) n.2749T>A c.3197T>A (p.Phe1066Tyr) c.2129T>A (p.Phe710Tyr) c.3209T>A (p.Phe1070Tyr) c.3107T>A (p.Phe1036Tyr) c.2381T>A (p.Phe794Tyr) | |
| 12 | g.21844551A>C | CA384118241 | ABCC9 | c.3247T>G (p.Phe1083Val) n.824T>G c.*2345T>G (n.*2345T>G) n.2748T>G c.3196T>G (p.Phe1066Val) c.2128T>G (p.Phe710Val) c.3208T>G (p.Phe1070Val) c.3106T>G (p.Phe1036Val) c.2380T>G (p.Phe794Val) | |
| 12 | g.21844551A>G | CA384118242 | ABCC9 | c.3247T>C (p.Phe1083Leu) n.824T>C c.*2345T>C (n.*2345T>C) n.2748T>C c.3196T>C (p.Phe1066Leu) c.2128T>C (p.Phe710Leu) c.3208T>C (p.Phe1070Leu) c.3106T>C (p.Phe1036Leu) c.2380T>C (p.Phe794Leu) | |
| 12 | g.21844551A>T | CA384118243 | ABCC9 | c.3247T>A (p.Phe1083Ile) n.824T>A c.*2345T>A (n.*2345T>A) n.2748T>A c.3196T>A (p.Phe1066Ile) c.2128T>A (p.Phe710Ile) c.3208T>A (p.Phe1070Ile) c.3106T>A (p.Phe1036Ile) c.2380T>A (p.Phe794Ile) | |
| 12 | g.21844551_21844552insACAACCAAACACAC | CA2794816729 | ABCC9 | c.3246_3247insGTGTGTTTGGTTGT (p.Phe1083ValfsTer14) n.823_824insGTGTGTTTGGTTGT c.*2344_*2345insGTGTGTTTGGTTGT (n.*2344_*2345insGTGTGTTTGGTTGT) n.2747_2748insGTGTGTTTGGTTGT c.3195_3196insGTGTGTTTGGTTGT (p.Phe1066ValfsTer14) c.2127_2128insGTGTGTTTGGTTGT (p.Phe710ValfsTer14) c.3207_3208insGTGTGTTTGGTTGT (p.Phe1070ValfsTer14) c.3105_3106insGTGTGTTTGGTTGT (p.Phe1036ValfsTer14) c.2379_2380insGTGTGTTTGGTTGT (p.Phe794ValfsTer14) | |
| 12 | g.21844552C>A | CA384118244 | ABCC9 | c.3246G>T (p.Arg1082Ser) n.823G>T c.*2344G>T (n.*2344G>T) n.2747G>T c.3195G>T (p.Arg1065Ser) c.2127G>T (p.Arg709Ser) c.3207G>T (p.Arg1069Ser) c.3105G>T (p.Arg1035Ser) c.2379G>T (p.Arg793Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21844552C= | CA2021314239 | ABCC9 | c.3246G= (p.Arg1082=) n.823G= c.*2344G= (n.*2344G=) n.2747G= c.3195G= (p.Arg1065=) c.2127G= (p.Arg709=) c.3207G= (p.Arg1069=) c.3105G= (p.Arg1035=) c.2379G= (p.Arg793=) | |
| 12 | g.21844552C>G | CA384118245 | ABCC9 | c.3246G>C (p.Arg1082Ser) n.823G>C c.*2344G>C (n.*2344G>C) n.2747G>C c.3195G>C (p.Arg1065Ser) c.2127G>C (p.Arg709Ser) c.3207G>C (p.Arg1069Ser) c.3105G>C (p.Arg1035Ser) c.2379G>C (p.Arg793Ser) | |
| 12 | g.21844552C>T | CA478870103 | ABCC9 | c.3246G>A (p.Arg1082=) n.823G>A c.*2344G>A (n.*2344G>A) n.2747G>A c.3195G>A (p.Arg1065=) c.2127G>A (p.Arg709=) c.3207G>A (p.Arg1069=) c.3105G>A (p.Arg1035=) c.2379G>A (p.Arg793=) | dbSNP gnomAD v2 gnomAD v4 |