Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11788129_11788140delinsGCTGGGCCCTCT | CA1153786816 | C1orf167,MTHFR | c.3363-35_3363-24delinsGCTGGGCCCTCT (n.3363-35_3363-24delinsGCTGGGCCCTCT) c.3849-20_3849-9delinsGCTGGGCCCTCT (n.3849-20_3849-9delinsGCTGGGCCCTCT) c.*2540_*2551delinsAGAGGGCCCAGC (n.*2540_*2551delinsAGAGGGCCCAGC) c.1999-35_1999-24delinsGCTGGGCCCTCT c.4634_4645delinsAGAGGGCCCAGC (n.4634_4645delinsAGAGGGCCCAGC) c.3921-35_3921-24delinsGCTGGGCCCTCT (n.3921-35_3921-24delinsGCTGGGCCCTCT) c.1348-20_1348-9delinsGCTGGGCCCTCT c.1177+82_1177+93delinsGCTGGGCCCTCT n.236+82_236+93delinsGCTGGGCCCTCT c.3984-20_3984-9delinsGCTGGGCCCTCT (n.3984-20_3984-9delinsGCTGGGCCCTCT) c.3930-20_3930-9delinsGCTGGGCCCTCT (n.3930-20_3930-9delinsGCTGGGCCCTCT) c.3983+82_3983+93delinsGCTGGGCCCTCT (n.3983+82_3983+93delinsGCTGGGCCCTCT) c.3576-20_3576-9delinsGCTGGGCCCTCT (n.3576-20_3576-9delinsGCTGGGCCCTCT) c.2265-20_2265-9delinsGCTGGGCCCTCT (n.2265-20_2265-9delinsGCTGGGCCCTCT) | |
1 | g.11788130_11788144delinsCTGGGCCCTCTCTGG | CA1149047550 | C1orf167,MTHFR | c.3363-34_3363-20delinsCTGGGCCCTCTCTGG (n.3363-34_3363-20delinsCTGGGCCCTCTCTGG) c.3849-19_3849-5delinsCTGGGCCCTCTCTGG (n.3849-19_3849-5delinsCTGGGCCCTCTCTGG) c.*2536_*2550delinsCCAGAGAGGGCCCAG (n.*2536_*2550delinsCCAGAGAGGGCCCAG) c.1999-34_1999-20delinsCTGGGCCCTCTCTGG c.4630_4644delinsCCAGAGAGGGCCCAG (n.4630_4644delinsCCAGAGAGGGCCCAG) c.3921-34_3921-20delinsCTGGGCCCTCTCTGG (n.3921-34_3921-20delinsCTGGGCCCTCTCTGG) c.1348-19_1348-5delinsCTGGGCCCTCTCTGG c.1177+83_1177+97delinsCTGGGCCCTCTCTGG n.236+83_236+97delinsCTGGGCCCTCTCTGG c.3984-19_3984-5delinsCTGGGCCCTCTCTGG (n.3984-19_3984-5delinsCTGGGCCCTCTCTGG) c.3930-19_3930-5delinsCTGGGCCCTCTCTGG (n.3930-19_3930-5delinsCTGGGCCCTCTCTGG) c.3983+83_3983+97delinsCTGGGCCCTCTCTGG (n.3983+83_3983+97delinsCTGGGCCCTCTCTGG) c.3576-19_3576-5delinsCTGGGCCCTCTCTGG (n.3576-19_3576-5delinsCTGGGCCCTCTCTGG) c.2265-19_2265-5delinsCTGGGCCCTCTCTGG (n.2265-19_2265-5delinsCTGGGCCCTCTCTGG) | |
1 | g.11788134_11788144del | CA595072 | C1orf167,MTHFR | c.3363-30_3363-20del (n.3363-30_3363-20del) c.3849-15_3849-5del (n.3849-15_3849-5del) c.*2540_*2550del (n.*2540_*2550del) c.1999-30_1999-20del c.4634_4644del (n.4634_4644del) c.3921-30_3921-20del (n.3921-30_3921-20del) c.1348-15_1348-5del c.1177+87_1177+97del n.236+87_236+97del c.3984-15_3984-5del (n.3984-15_3984-5del) c.3930-15_3930-5del (n.3930-15_3930-5del) c.3983+87_3983+97del (n.3983+87_3983+97del) c.3576-15_3576-5del (n.3576-15_3576-5del) c.2265-15_2265-5del (n.2265-15_2265-5del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788134_11788139delinsGCCCTC | CA1153786830 | C1orf167,MTHFR | c.3363-30_3363-25delinsGCCCTC (n.3363-30_3363-25delinsGCCCTC) c.3849-15_3849-10delinsGCCCTC (n.3849-15_3849-10delinsGCCCTC) c.*2541_*2546delinsGAGGGC (n.*2541_*2546delinsGAGGGC) c.1999-30_1999-25delinsGCCCTC c.4635_4640delinsGAGGGC (n.4635_4640delinsGAGGGC) c.3921-30_3921-25delinsGCCCTC (n.3921-30_3921-25delinsGCCCTC) c.1348-15_1348-10delinsGCCCTC c.1177+87_1177+92delinsGCCCTC n.236+87_236+92delinsGCCCTC c.3984-15_3984-10delinsGCCCTC (n.3984-15_3984-10delinsGCCCTC) c.3930-15_3930-10delinsGCCCTC (n.3930-15_3930-10delinsGCCCTC) c.3983+87_3983+92delinsGCCCTC (n.3983+87_3983+92delinsGCCCTC) c.3576-15_3576-10delinsGCCCTC (n.3576-15_3576-10delinsGCCCTC) c.2265-15_2265-10delinsGCCCTC (n.2265-15_2265-10delinsGCCCTC) | |
1 | g.11788135_11788139del | CA1153786832 | C1orf167,MTHFR | c.3363-29_3363-25del (n.3363-29_3363-25del) c.3849-14_3849-10del (n.3849-14_3849-10del) c.*2541_*2545del (n.*2541_*2545del) c.1999-29_1999-25del c.4635_4639del (n.4635_4639del) c.3921-29_3921-25del (n.3921-29_3921-25del) c.1348-14_1348-10del c.1177+88_1177+92del n.236+88_236+92del c.3984-14_3984-10del (n.3984-14_3984-10del) c.3930-14_3930-10del (n.3930-14_3930-10del) c.3983+88_3983+92del (n.3983+88_3983+92del) c.3576-14_3576-10del (n.3576-14_3576-10del) c.2265-14_2265-10del (n.2265-14_2265-10del) | dbSNP gnomAD v4 |
1 | g.11788141_11788142del | CA2574214350 | C1orf167,MTHFR | c.3363-23_3363-22del (n.3363-23_3363-22del) c.3849-8_3849-7del (n.3849-8_3849-7del) c.*2542_*2543del (n.*2542_*2543del) c.1999-23_1999-22del c.4636_4637del (n.4636_4637del) c.3921-23_3921-22del (n.3921-23_3921-22del) c.1348-8_1348-7del c.1177+94_1177+95del n.236+94_236+95del c.3984-8_3984-7del (n.3984-8_3984-7del) c.3930-8_3930-7del (n.3930-8_3930-7del) c.3983+94_3983+95del (n.3983+94_3983+95del) c.3576-8_3576-7del (n.3576-8_3576-7del) c.2265-8_2265-7del (n.2265-8_2265-7del) | gnomAD v4 |
1 | g.11788140T>C | CA2643295620 | C1orf167,MTHFR | c.3363-24T>C (n.3363-24T>C) c.3849-9T>C (n.3849-9T>C) c.*2540A>G (n.*2540A>G) c.1999-24T>C c.4634A>G (n.4634A>G) c.3921-24T>C (n.3921-24T>C) c.1348-9T>C c.1177+93T>C n.236+93T>C c.3984-9T>C (n.3984-9T>C) c.3930-9T>C (n.3930-9T>C) c.3983+93T>C (n.3983+93T>C) c.3576-9T>C (n.3576-9T>C) c.2265-9T>C (n.2265-9T>C) | gnomAD v4 |
1 | g.11788141C>A | CA2643295621 | C1orf167,MTHFR | c.3363-23C>A (n.3363-23C>A) c.3849-8C>A (n.3849-8C>A) c.*2539G>T (n.*2539G>T) c.1999-23C>A c.4633G>T (n.4633G>T) c.3921-23C>A (n.3921-23C>A) c.1348-8C>A c.1177+94C>A n.236+94C>A c.3984-8C>A (n.3984-8C>A) c.3930-8C>A (n.3930-8C>A) c.3983+94C>A (n.3983+94C>A) c.3576-8C>A (n.3576-8C>A) c.2265-8C>A (n.2265-8C>A) | gnomAD v4 |
1 | g.11788143G>A | CA1153786842 | C1orf167,MTHFR | c.3363-21G>A (n.3363-21G>A) c.3849-6G>A (n.3849-6G>A) c.*2537C>T (n.*2537C>T) c.1999-21G>A c.4631C>T (n.4631C>T) c.3921-21G>A (n.3921-21G>A) c.1348-6G>A c.1177+96G>A n.236+96G>A c.3984-6G>A (n.3984-6G>A) c.3930-6G>A (n.3930-6G>A) c.3983+96G>A (n.3983+96G>A) c.3576-6G>A (n.3576-6G>A) c.2265-6G>A (n.2265-6G>A) | dbSNP gnomAD v4 |
1 | g.11788143G>C | CA2574214351 | C1orf167,MTHFR | c.3363-21G>C (n.3363-21G>C) c.3849-6G>C (n.3849-6G>C) c.*2537C>G (n.*2537C>G) c.1999-21G>C c.4631C>G (n.4631C>G) c.3921-21G>C (n.3921-21G>C) c.1348-6G>C c.1177+96G>C n.236+96G>C c.3984-6G>C (n.3984-6G>C) c.3930-6G>C (n.3930-6G>C) c.3983+96G>C (n.3983+96G>C) c.3576-6G>C (n.3576-6G>C) c.2265-6G>C (n.2265-6G>C) | |
1 | g.11788143G= | CA1153786843 | C1orf167,MTHFR | c.3363-21G= (n.3363-21G=) c.3849-6G= (n.3849-6G=) c.*2537C= (n.*2537C=) c.1999-21G= c.4631C= (n.4631C=) c.3921-21G= (n.3921-21G=) c.1348-6G= c.1177+96G= n.236+96G= c.3984-6G= (n.3984-6G=) c.3930-6G= (n.3930-6G=) c.3983+96G= (n.3983+96G=) c.3576-6G= (n.3576-6G=) c.2265-6G= (n.2265-6G=) | |
1 | g.11788143G>T | CA2643295622 | C1orf167,MTHFR | c.3363-21G>T (n.3363-21G>T) c.3849-6G>T (n.3849-6G>T) c.*2537C>A (n.*2537C>A) c.1999-21G>T c.4631C>A (n.4631C>A) c.3921-21G>T (n.3921-21G>T) c.1348-6G>T c.1177+96G>T n.236+96G>T c.3984-6G>T (n.3984-6G>T) c.3930-6G>T (n.3930-6G>T) c.3983+96G>T (n.3983+96G>T) c.3576-6G>T (n.3576-6G>T) c.2265-6G>T (n.2265-6G>T) | gnomAD v4 |
1 | g.11788143_11788149delinsGGCCAGT | CA1153786844 | C1orf167,MTHFR | c.3363-21_3363-15delinsGGCCAGT (n.3363-21_3363-15delinsGGCCAGT) c.3849-6_3849delinsGGCCAGT c.*2531_*2537delinsACTGGCC (n.*2531_*2537delinsACTGGCC) c.1999-21_1999-15delinsGGCCAGT c.4625_4631delinsACTGGCC (n.4625_4631delinsACTGGCC) c.3921-21_3921-15delinsGGCCAGT (n.3921-21_3921-15delinsGGCCAGT) c.1348-6_1348delinsGGCCAGT c.1177+96_1178-94delinsGGCCAGT n.236+96_237-94delinsGGCCAGT c.3984-6_3984delinsGGCCAGT c.3930-6_3930delinsGGCCAGT c.3983+96_3984-94delinsGGCCAGT (n.3983+96_3984-94delinsGGCCAGT) c.3576-6_3576delinsGGCCAGT c.2265-6_2265delinsGGCCAGT | |
1 | g.11788144G>A | CA521454910 | C1orf167,MTHFR | c.3363-20G>A (n.3363-20G>A) c.3849-5G>A (n.3849-5G>A) c.*2536C>T (n.*2536C>T) c.1999-20G>A c.4630C>T (n.4630C>T) c.3921-20G>A (n.3921-20G>A) c.1348-5G>A c.1177+97G>A n.236+97G>A c.3984-5G>A (n.3984-5G>A) c.3930-5G>A (n.3930-5G>A) c.3983+97G>A (n.3983+97G>A) c.3576-5G>A (n.3576-5G>A) c.2265-5G>A (n.2265-5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788144G= | CA1153786847 | C1orf167,MTHFR | c.3363-20G= (n.3363-20G=) c.3849-5G= (n.3849-5G=) c.*2536C= (n.*2536C=) c.1999-20G= c.4630C= (n.4630C=) c.3921-20G= (n.3921-20G=) c.1348-5G= c.1177+97G= n.236+97G= c.3984-5G= (n.3984-5G=) c.3930-5G= (n.3930-5G=) c.3983+97G= (n.3983+97G=) c.3576-5G= (n.3576-5G=) c.2265-5G= (n.2265-5G=) | |
1 | g.11788144G>T | CA521454908 | C1orf167,MTHFR | c.3363-20G>T (n.3363-20G>T) c.3849-5G>T (n.3849-5G>T) c.*2536C>A (n.*2536C>A) c.1999-20G>T c.4630C>A (n.4630C>A) c.3921-20G>T (n.3921-20G>T) c.1348-5G>T c.1177+97G>T n.236+97G>T c.3984-5G>T (n.3984-5G>T) c.3930-5G>T (n.3930-5G>T) c.3983+97G>T (n.3983+97G>T) c.3576-5G>T (n.3576-5G>T) c.2265-5G>T (n.2265-5G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788146_11788151del | CA521454909 | C1orf167,MTHFR | c.3363-18_3363-13del (n.3363-18_3363-13del) c.3849-3_3851del c.*2531_*2536del (n.*2531_*2536del) c.1999-18_1999-13del c.4625_4630del (n.4625_4630del) c.3921-18_3921-13del (n.3921-18_3921-13del) c.1348-3_1350del c.1178-97_1178-92del n.237-97_237-92del c.3984-3_3986del c.3930-3_3932del c.3984-97_3984-92del (n.3984-97_3984-92del) c.3576-3_3578del c.2265-3_2267del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788145C>A | CA2643295623 | C1orf167,MTHFR | c.3363-19C>A (n.3363-19C>A) c.3849-4C>A (n.3849-4C>A) c.*2535G>T (n.*2535G>T) c.1999-19C>A c.4629G>T (n.4629G>T) c.3921-19C>A (n.3921-19C>A) c.1348-4C>A c.1178-98C>A n.237-98C>A c.3984-4C>A (n.3984-4C>A) c.3930-4C>A (n.3930-4C>A) c.3984-98C>A (n.3984-98C>A) c.3576-4C>A (n.3576-4C>A) c.2265-4C>A (n.2265-4C>A) | gnomAD v4 |
1 | g.11788145C>G | CA2643295624 | C1orf167,MTHFR | c.3363-19C>G (n.3363-19C>G) c.3849-4C>G (n.3849-4C>G) c.*2535G>C (n.*2535G>C) c.1999-19C>G c.4629G>C (n.4629G>C) c.3921-19C>G (n.3921-19C>G) c.1348-4C>G c.1178-98C>G n.237-98C>G c.3984-4C>G (n.3984-4C>G) c.3930-4C>G (n.3930-4C>G) c.3984-98C>G (n.3984-98C>G) c.3576-4C>G (n.3576-4C>G) c.2265-4C>G (n.2265-4C>G) | gnomAD v4 |
1 | g.11788145C>T | CA2643295625 | C1orf167,MTHFR | c.3363-19C>T (n.3363-19C>T) c.3849-4C>T (n.3849-4C>T) c.*2535G>A (n.*2535G>A) c.1999-19C>T c.4629G>A (n.4629G>A) c.3921-19C>T (n.3921-19C>T) c.1348-4C>T c.1178-98C>T n.237-98C>T c.3984-4C>T (n.3984-4C>T) c.3930-4C>T (n.3930-4C>T) c.3984-98C>T (n.3984-98C>T) c.3576-4C>T (n.3576-4C>T) c.2265-4C>T (n.2265-4C>T) | gnomAD v4 |
1 | g.11788146C>A | CA2643295626 | C1orf167,MTHFR | c.3363-18C>A (n.3363-18C>A) c.3849-3C>A (n.3849-3C>A) c.*2534G>T (n.*2534G>T) c.1999-18C>A c.4628G>T (n.4628G>T) c.3921-18C>A (n.3921-18C>A) c.1348-3C>A c.1178-97C>A n.237-97C>A c.3984-3C>A (n.3984-3C>A) c.3930-3C>A (n.3930-3C>A) c.3984-97C>A (n.3984-97C>A) c.3576-3C>A (n.3576-3C>A) c.2265-3C>A (n.2265-3C>A) | gnomAD v4 |
1 | g.11788146C>T | CA2643295627 | C1orf167,MTHFR | c.3363-18C>T (n.3363-18C>T) c.3849-3C>T (n.3849-3C>T) c.*2534G>A (n.*2534G>A) c.1999-18C>T c.4628G>A (n.4628G>A) c.3921-18C>T (n.3921-18C>T) c.1348-3C>T c.1178-97C>T n.237-97C>T c.3984-3C>T (n.3984-3C>T) c.3930-3C>T (n.3930-3C>T) c.3984-97C>T (n.3984-97C>T) c.3576-3C>T (n.3576-3C>T) c.2265-3C>T (n.2265-3C>T) | gnomAD v4 |
1 | g.11788147A= | CA1153786850 | C1orf167,MTHFR | c.3363-17A= (n.3363-17A=) c.3849-2A= (n.3849-2A=) c.*2533T= (n.*2533T=) c.1999-17A= c.4627T= (n.4627T=) c.3921-17A= (n.3921-17A=) c.1348-2A= c.1178-96A= n.237-96A= c.3984-2A= (n.3984-2A=) c.3930-2A= (n.3930-2A=) c.3984-96A= (n.3984-96A=) c.3576-2A= (n.3576-2A=) c.2265-2A= (n.2265-2A=) | |
1 | g.11788147A>G | CA521454911 | C1orf167,MTHFR | c.3363-17A>G (n.3363-17A>G) c.3849-2A>G (n.3849-2A>G) c.*2533T>C (n.*2533T>C) c.1999-17A>G c.4627T>C (n.4627T>C) c.3921-17A>G (n.3921-17A>G) c.1348-2A>G c.1178-96A>G n.237-96A>G c.3984-2A>G (n.3984-2A>G) c.3930-2A>G (n.3930-2A>G) c.3984-96A>G (n.3984-96A>G) c.3576-2A>G (n.3576-2A>G) c.2265-2A>G (n.2265-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788148G>A | CA17996152 | C1orf167,MTHFR | c.3363-16G>A (n.3363-16G>A) c.3849-1G>A (n.3849-1G>A) c.*2532C>T (n.*2532C>T) c.1999-16G>A c.4626C>T (n.4626C>T) c.3921-16G>A (n.3921-16G>A) c.1348-1G>A c.1178-95G>A n.237-95G>A c.3984-1G>A (n.3984-1G>A) c.3930-1G>A (n.3930-1G>A) c.3984-95G>A (n.3984-95G>A) c.3576-1G>A (n.3576-1G>A) c.2265-1G>A (n.2265-1G>A) | dbSNP gnomAD v4 |
1 | g.11788148G= | CA1153786852 | C1orf167,MTHFR | c.3363-16G= (n.3363-16G=) c.3849-1G= (n.3849-1G=) c.*2532C= (n.*2532C=) c.1999-16G= c.4626C= (n.4626C=) c.3921-16G= (n.3921-16G=) c.1348-1G= c.1178-95G= n.237-95G= c.3984-1G= (n.3984-1G=) c.3930-1G= (n.3930-1G=) c.3984-95G= (n.3984-95G=) c.3576-1G= (n.3576-1G=) c.2265-1G= (n.2265-1G=) | |
1 | g.11788149T>A | CA416361667 | C1orf167,MTHFR | c.3363-15T>A (n.3363-15T>A) c.3849T>A (p.Arg1283=) c.*2531A>T (n.*2531A>T) c.1999-15T>A c.4625A>T (n.4625A>T) c.3921-15T>A (n.3921-15T>A) c.1348T>A c.1178-94T>A n.237-94T>A c.3984T>A (p.Arg1328=) c.3930T>A (p.Arg1310=) c.3984-94T>A (n.3984-94T>A) c.3576T>A (p.Arg1192=) c.2265T>A (p.Arg755=) | COSMIC COSMIC |
1 | g.11788149T>C | CA416361668 | C1orf167,MTHFR | c.3363-15T>C (n.3363-15T>C) c.3849T>C (p.Arg1283=) c.*2531A>G (n.*2531A>G) c.1999-15T>C c.4625A>G (n.4625A>G) c.3921-15T>C (n.3921-15T>C) c.1348T>C c.1178-94T>C n.237-94T>C c.3984T>C (p.Arg1328=) c.3930T>C (p.Arg1310=) c.3984-94T>C (n.3984-94T>C) c.3576T>C (p.Arg1192=) c.2265T>C (p.Arg755=) | |
1 | g.11788149T>G | CA416361669 | C1orf167,MTHFR | c.3363-15T>G (n.3363-15T>G) c.3849T>G (p.Arg1283=) c.*2531A>C (n.*2531A>C) c.1999-15T>G c.4625A>C (n.4625A>C) c.3921-15T>G (n.3921-15T>G) c.1348T>G c.1178-94T>G n.237-94T>G c.3984T>G (p.Arg1328=) c.3930T>G (p.Arg1310=) c.3984-94T>G (n.3984-94T>G) c.3576T>G (p.Arg1192=) c.2265T>G (p.Arg755=) | |
1 | g.11788150G>A | CA416361670 | C1orf167,MTHFR | c.3363-14G>A (n.3363-14G>A) c.3850G>A (p.Ala1284Thr) c.*2530C>T (n.*2530C>T) c.1999-14G>A c.4624C>T (n.4624C>T) c.3921-14G>A (n.3921-14G>A) c.1349G>A c.1178-93G>A n.237-93G>A c.3985G>A (p.Ala1329Thr) c.3931G>A (p.Ala1311Thr) c.3984-93G>A (n.3984-93G>A) c.3577G>A (p.Ala1193Thr) c.2266G>A (p.Ala756Thr) | gnomAD v4 |
1 | g.11788150G>C | CA416361672 | C1orf167,MTHFR | c.3363-14G>C (n.3363-14G>C) c.3850G>C (p.Ala1284Pro) c.*2530C>G (n.*2530C>G) c.1999-14G>C c.4624C>G (n.4624C>G) c.3921-14G>C (n.3921-14G>C) c.1349G>C c.1178-93G>C n.237-93G>C c.3985G>C (p.Ala1329Pro) c.3931G>C (p.Ala1311Pro) c.3984-93G>C (n.3984-93G>C) c.3577G>C (p.Ala1193Pro) c.2266G>C (p.Ala756Pro) | |
1 | g.11788150G>T | CA416361671 | C1orf167,MTHFR | c.3363-14G>T (n.3363-14G>T) c.3850G>T (p.Ala1284Ser) c.*2530C>A (n.*2530C>A) c.1999-14G>T c.4624C>A (n.4624C>A) c.3921-14G>T (n.3921-14G>T) c.1349G>T c.1178-93G>T n.237-93G>T c.3985G>T (p.Ala1329Ser) c.3931G>T (p.Ala1311Ser) c.3984-93G>T (n.3984-93G>T) c.3577G>T (p.Ala1193Ser) c.2266G>T (p.Ala756Ser) | |
1 | g.11788151C>A | CA416361673 | C1orf167,MTHFR | c.3363-13C>A (n.3363-13C>A) c.3851C>A (p.Ala1284Asp) c.*2529G>T (n.*2529G>T) c.1999-13C>A c.4623G>T (n.4623G>T) c.3921-13C>A (n.3921-13C>A) c.1350C>A c.1178-92C>A n.237-92C>A c.3986C>A (p.Ala1329Asp) c.3932C>A (p.Ala1311Asp) c.3984-92C>A (n.3984-92C>A) c.3578C>A (p.Ala1193Asp) c.2267C>A (p.Ala756Asp) | gnomAD v4 |
1 | g.11788151C= | CA1153786855 | C1orf167,MTHFR | c.3363-13C= (n.3363-13C=) c.3851C= (p.Ala1284=) c.*2529G= (n.*2529G=) c.1999-13C= c.4623G= (n.4623G=) c.3921-13C= (n.3921-13C=) c.1350C= c.1178-92C= n.237-92C= c.3986C= (p.Ala1329=) c.3932C= (p.Ala1311=) c.3984-92C= (n.3984-92C=) c.3578C= (p.Ala1193=) c.2267C= (p.Ala756=) | |
1 | g.11788151C>G | CA416361674 | C1orf167,MTHFR | c.3363-13C>G (n.3363-13C>G) c.3851C>G (p.Ala1284Gly) c.*2529G>C (n.*2529G>C) c.1999-13C>G c.4623G>C (n.4623G>C) c.3921-13C>G (n.3921-13C>G) c.1350C>G c.1178-92C>G n.237-92C>G c.3986C>G (p.Ala1329Gly) c.3932C>G (p.Ala1311Gly) c.3984-92C>G (n.3984-92C>G) c.3578C>G (p.Ala1193Gly) c.2267C>G (p.Ala756Gly) | gnomAD v4 |
1 | g.11788151C>T | CA416361675 | C1orf167,MTHFR | c.3363-13C>T (n.3363-13C>T) c.3851C>T (p.Ala1284Val) c.*2529G>A (n.*2529G>A) c.1999-13C>T c.4623G>A (n.4623G>A) c.3921-13C>T (n.3921-13C>T) c.1350C>T c.1178-92C>T n.237-92C>T c.3986C>T (p.Ala1329Val) c.3932C>T (p.Ala1311Val) c.3984-92C>T (n.3984-92C>T) c.3578C>T (p.Ala1193Val) c.2267C>T (p.Ala756Val) | dbSNP gnomAD v4 |
1 | g.11788152T>A | CA416361676 | C1orf167,MTHFR | c.3363-12T>A (n.3363-12T>A) c.3852T>A (p.Ala1284=) c.*2528A>T (n.*2528A>T) c.1999-12T>A c.4622A>T (n.4622A>T) c.3921-12T>A (n.3921-12T>A) c.1351T>A c.1178-91T>A n.237-91T>A c.3987T>A (p.Ala1329=) c.3933T>A (p.Ala1311=) c.3984-91T>A (n.3984-91T>A) c.3579T>A (p.Ala1193=) c.2268T>A (p.Ala756=) | |
1 | g.11788152T>C | CA416361677 | C1orf167,MTHFR | c.3363-12T>C (n.3363-12T>C) c.3852T>C (p.Ala1284=) c.*2528A>G (n.*2528A>G) c.1999-12T>C c.4622A>G (n.4622A>G) c.3921-12T>C (n.3921-12T>C) c.1351T>C c.1178-91T>C n.237-91T>C c.3987T>C (p.Ala1329=) c.3933T>C (p.Ala1311=) c.3984-91T>C (n.3984-91T>C) c.3579T>C (p.Ala1193=) c.2268T>C (p.Ala756=) | |
1 | g.11788152T>G | CA416361678 | C1orf167,MTHFR | c.3363-12T>G (n.3363-12T>G) c.3852T>G (p.Ala1284=) c.*2528A>C (n.*2528A>C) c.1999-12T>G c.4622A>C (n.4622A>C) c.3921-12T>G (n.3921-12T>G) c.1351T>G c.1178-91T>G n.237-91T>G c.3987T>G (p.Ala1329=) c.3933T>G (p.Ala1311=) c.3984-91T>G (n.3984-91T>G) c.3579T>G (p.Ala1193=) c.2268T>G (p.Ala756=) | |
1 | g.11788153C>A | CA416361679 | C1orf167,MTHFR | c.3363-11C>A (n.3363-11C>A) c.3853C>A (p.Arg1285Ser) c.*2527G>T (n.*2527G>T) c.1999-11C>A c.4621G>T (n.4621G>T) c.3921-11C>A (n.3921-11C>A) c.1352C>A c.1178-90C>A n.237-90C>A c.3988C>A (p.Arg1330Ser) c.3934C>A (p.Arg1312Ser) c.3984-90C>A (n.3984-90C>A) c.3580C>A (p.Arg1194Ser) c.2269C>A (p.Arg757Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788153C= | CA1153786857 | C1orf167,MTHFR | c.3363-11C= (n.3363-11C=) c.3853C= (p.Arg1285=) c.*2527G= (n.*2527G=) c.1999-11C= c.4621G= (n.4621G=) c.3921-11C= (n.3921-11C=) c.1352C= c.1178-90C= n.237-90C= c.3988C= (p.Arg1330=) c.3934C= (p.Arg1312=) c.3984-90C= (n.3984-90C=) c.3580C= (p.Arg1194=) c.2269C= (p.Arg757=) | |
1 | g.11788153C>G | CA416361680 | C1orf167,MTHFR | c.3363-11C>G (n.3363-11C>G) c.3853C>G (p.Arg1285Gly) c.*2527G>C (n.*2527G>C) c.1999-11C>G c.4621G>C (n.4621G>C) c.3921-11C>G (n.3921-11C>G) c.1352C>G c.1178-90C>G n.237-90C>G c.3988C>G (p.Arg1330Gly) c.3934C>G (p.Arg1312Gly) c.3984-90C>G (n.3984-90C>G) c.3580C>G (p.Arg1194Gly) c.2269C>G (p.Arg757Gly) | gnomAD v4 |
1 | g.11788153C>T | CA595074 | C1orf167,MTHFR | c.3363-11C>T (n.3363-11C>T) c.3853C>T (p.Arg1285Cys) c.*2527G>A (n.*2527G>A) c.1999-11C>T c.4621G>A (n.4621G>A) c.3921-11C>T (n.3921-11C>T) c.1352C>T c.1178-90C>T n.237-90C>T c.3988C>T (p.Arg1330Cys) c.3934C>T (p.Arg1312Cys) c.3984-90C>T (n.3984-90C>T) c.3580C>T (p.Arg1194Cys) c.2269C>T (p.Arg757Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788154G>A | CA10607858 | C1orf167,MTHFR | c.3363-10G>A (n.3363-10G>A) c.3854G>A (p.Arg1285His) c.*2526C>T (n.*2526C>T) c.1999-10G>A c.4620C>T (n.4620C>T) c.3921-10G>A (n.3921-10G>A) c.1353G>A c.1178-89G>A n.237-89G>A c.3989G>A (p.Arg1330His) c.3935G>A (p.Arg1312His) c.3984-89G>A (n.3984-89G>A) c.3581G>A (p.Arg1194His) c.2270G>A (p.Arg757His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788154G>C | CA416361681 | C1orf167,MTHFR | c.3363-10G>C (n.3363-10G>C) c.3854G>C (p.Arg1285Pro) c.*2526C>G (n.*2526C>G) c.1999-10G>C c.4620C>G (n.4620C>G) c.3921-10G>C (n.3921-10G>C) c.1353G>C c.1178-89G>C n.237-89G>C c.3989G>C (p.Arg1330Pro) c.3935G>C (p.Arg1312Pro) c.3984-89G>C (n.3984-89G>C) c.3581G>C (p.Arg1194Pro) c.2270G>C (p.Arg757Pro) | |
1 | g.11788154G= | CA1153786864 | C1orf167,MTHFR | c.3363-10G= (n.3363-10G=) c.3854G= (p.Arg1285=) c.*2526C= (n.*2526C=) c.1999-10G= c.4620C= (n.4620C=) c.3921-10G= (n.3921-10G=) c.1353G= c.1178-89G= n.237-89G= c.3989G= (p.Arg1330=) c.3935G= (p.Arg1312=) c.3984-89G= (n.3984-89G=) c.3581G= (p.Arg1194=) c.2270G= (p.Arg757=) | |
1 | g.11788154G>T | CA416361682 | C1orf167,MTHFR | c.3363-10G>T (n.3363-10G>T) c.3854G>T (p.Arg1285Leu) c.*2526C>A (n.*2526C>A) c.1999-10G>T c.4620C>A (n.4620C>A) c.3921-10G>T (n.3921-10G>T) c.1353G>T c.1178-89G>T n.237-89G>T c.3989G>T (p.Arg1330Leu) c.3935G>T (p.Arg1312Leu) c.3984-89G>T (n.3984-89G>T) c.3581G>T (p.Arg1194Leu) c.2270G>T (p.Arg757Leu) | gnomAD v4 |
1 | g.11788154_11788155dup | CA2742479576 | C1orf167,MTHFR | c.3363-10_3363-9dup (n.3363-10_3363-9dup) c.3854_3855dup (p.Ser1286ValfsTer21) c.*2525_*2526dup (n.*2525_*2526dup) c.1999-10_1999-9dup c.4619_4620dup (n.4619_4620dup) c.3921-10_3921-9dup (n.3921-10_3921-9dup) c.1353_1354dup c.1178-89_1178-88dup n.237-89_237-88dup c.3989_3990dup (p.Ser1331ValfsTer21) c.3935_3936dup (p.Ser1313ValfsTer21) c.3984-89_3984-88dup (n.3984-89_3984-88dup) c.3581_3582dup (p.Ser1195ValfsTer21) c.2270_2271dup (p.Ser758ValfsTer21) | |
1 | g.11788155T>A | CA416361685 | C1orf167,MTHFR | c.3363-9T>A (n.3363-9T>A) c.3855T>A (p.Arg1285=) c.*2525A>T (n.*2525A>T) c.1999-9T>A c.4619A>T (n.4619A>T) c.3921-9T>A (n.3921-9T>A) c.1354T>A c.1178-88T>A n.237-88T>A c.3990T>A (p.Arg1330=) c.3936T>A (p.Arg1312=) c.3984-88T>A (n.3984-88T>A) c.3582T>A (p.Arg1194=) c.2271T>A (p.Arg757=) | |
1 | g.11788155T>C | CA416361683 | C1orf167,MTHFR | c.3363-9T>C (n.3363-9T>C) c.3855T>C (p.Arg1285=) c.*2525A>G (n.*2525A>G) c.1999-9T>C c.4619A>G (n.4619A>G) c.3921-9T>C (n.3921-9T>C) c.1354T>C c.1178-88T>C n.237-88T>C c.3990T>C (p.Arg1330=) c.3936T>C (p.Arg1312=) c.3984-88T>C (n.3984-88T>C) c.3582T>C (p.Arg1194=) c.2271T>C (p.Arg757=) | |
1 | g.11788155T>G | CA416361684 | C1orf167,MTHFR | c.3363-9T>G (n.3363-9T>G) c.3855T>G (p.Arg1285=) c.*2525A>C (n.*2525A>C) c.1999-9T>G c.4619A>C (n.4619A>C) c.3921-9T>G (n.3921-9T>G) c.1354T>G c.1178-88T>G n.237-88T>G c.3990T>G (p.Arg1330=) c.3936T>G (p.Arg1312=) c.3984-88T>G (n.3984-88T>G) c.3582T>G (p.Arg1194=) c.2271T>G (p.Arg757=) | gnomAD v4 |
1 | g.11788156T>A | CA416361686 | C1orf167,MTHFR | c.3363-8T>A (n.3363-8T>A) c.3856T>A (p.Ser1286Thr) c.*2524A>T (n.*2524A>T) c.1999-8T>A c.4618A>T (n.4618A>T) c.3921-8T>A (n.3921-8T>A) c.1355T>A c.1178-87T>A n.237-87T>A c.3991T>A (p.Ser1331Thr) c.3937T>A (p.Ser1313Thr) c.3984-87T>A (n.3984-87T>A) c.3583T>A (p.Ser1195Thr) c.2272T>A (p.Ser758Thr) | |
1 | g.11788156T>C | CA416361687 | C1orf167,MTHFR | c.3363-8T>C (n.3363-8T>C) c.3856T>C (p.Ser1286Pro) c.*2524A>G (n.*2524A>G) c.1999-8T>C c.4618A>G (n.4618A>G) c.3921-8T>C (n.3921-8T>C) c.1355T>C c.1178-87T>C n.237-87T>C c.3991T>C (p.Ser1331Pro) c.3937T>C (p.Ser1313Pro) c.3984-87T>C (n.3984-87T>C) c.3583T>C (p.Ser1195Pro) c.2272T>C (p.Ser758Pro) | |
1 | g.11788156T>G | CA416361688 | C1orf167,MTHFR | c.3363-8T>G (n.3363-8T>G) c.3856T>G (p.Ser1286Ala) c.*2524A>C (n.*2524A>C) c.1999-8T>G c.4618A>C (n.4618A>C) c.3921-8T>G (n.3921-8T>G) c.1355T>G c.1178-87T>G n.237-87T>G c.3991T>G (p.Ser1331Ala) c.3937T>G (p.Ser1313Ala) c.3984-87T>G (n.3984-87T>G) c.3583T>G (p.Ser1195Ala) c.2272T>G (p.Ser758Ala) | |
1 | g.11788157C>A | CA416361689 | C1orf167,MTHFR | c.3363-7C>A (n.3363-7C>A) c.3857C>A (p.Ser1286Tyr) c.*2523G>T (n.*2523G>T) c.1999-7C>A c.4617G>T (n.4617G>T) c.3921-7C>A (n.3921-7C>A) c.1356C>A c.1178-86C>A n.237-86C>A c.3992C>A (p.Ser1331Tyr) c.3938C>A (p.Ser1313Tyr) c.3984-86C>A (n.3984-86C>A) c.3584C>A (p.Ser1195Tyr) c.2273C>A (p.Ser758Tyr) | gnomAD v4 |
1 | g.11788157C= | CA1153786870 | C1orf167,MTHFR | c.3363-7C= (n.3363-7C=) c.3857C= (p.Ser1286=) c.*2523G= (n.*2523G=) c.1999-7C= c.4617G= (n.4617G=) c.3921-7C= (n.3921-7C=) c.1356C= c.1178-86C= n.237-86C= c.3992C= (p.Ser1331=) c.3938C= (p.Ser1313=) c.3984-86C= (n.3984-86C=) c.3584C= (p.Ser1195=) c.2273C= (p.Ser758=) | |
1 | g.11788157C>G | CA416361690 | C1orf167,MTHFR | c.3363-7C>G (n.3363-7C>G) c.3857C>G (p.Ser1286Cys) c.*2523G>C (n.*2523G>C) c.1999-7C>G c.4617G>C (n.4617G>C) c.3921-7C>G (n.3921-7C>G) c.1356C>G c.1178-86C>G n.237-86C>G c.3992C>G (p.Ser1331Cys) c.3938C>G (p.Ser1313Cys) c.3984-86C>G (n.3984-86C>G) c.3584C>G (p.Ser1195Cys) c.2273C>G (p.Ser758Cys) | |
1 | g.11788157C>T | CA416361691 | C1orf167,MTHFR | c.3363-7C>T (n.3363-7C>T) c.3857C>T (p.Ser1286Phe) c.*2523G>A (n.*2523G>A) c.1999-7C>T c.4617G>A (n.4617G>A) c.3921-7C>T (n.3921-7C>T) c.1356C>T c.1178-86C>T n.237-86C>T c.3992C>T (p.Ser1331Phe) c.3938C>T (p.Ser1313Phe) c.3984-86C>T (n.3984-86C>T) c.3584C>T (p.Ser1195Phe) c.2273C>T (p.Ser758Phe) | dbSNP gnomAD v4 |
1 | g.11788158C>A | CA416361692 | C1orf167,MTHFR | c.3363-6C>A (n.3363-6C>A) c.3858C>A (p.Ser1286=) c.*2522G>T (n.*2522G>T) c.1999-6C>A c.4616G>T (n.4616G>T) c.3921-6C>A (n.3921-6C>A) c.1357C>A c.1178-85C>A n.237-85C>A c.3993C>A (p.Ser1331=) c.3939C>A (p.Ser1313=) c.3984-85C>A (n.3984-85C>A) c.3585C>A (p.Ser1195=) c.2274C>A (p.Ser758=) | gnomAD v4 |
1 | g.11788158C= | CA1153786877 | C1orf167,MTHFR | c.3363-6C= (n.3363-6C=) c.3858C= (p.Ser1286=) c.*2522G= (n.*2522G=) c.1999-6C= c.4616G= (n.4616G=) c.3921-6C= (n.3921-6C=) c.1357C= c.1178-85C= n.237-85C= c.3993C= (p.Ser1331=) c.3939C= (p.Ser1313=) c.3984-85C= (n.3984-85C=) c.3585C= (p.Ser1195=) c.2274C= (p.Ser758=) | |
1 | g.11788158C>G | CA416361693 | C1orf167,MTHFR | c.3363-6C>G (n.3363-6C>G) c.3858C>G (p.Ser1286=) c.*2522G>C (n.*2522G>C) c.1999-6C>G c.4616G>C (n.4616G>C) c.3921-6C>G (n.3921-6C>G) c.1357C>G c.1178-85C>G n.237-85C>G c.3993C>G (p.Ser1331=) c.3939C>G (p.Ser1313=) c.3984-85C>G (n.3984-85C>G) c.3585C>G (p.Ser1195=) c.2274C>G (p.Ser758=) | |
1 | g.11788158C>T | CA416361694 | C1orf167,MTHFR | c.3363-6C>T (n.3363-6C>T) c.3858C>T (p.Ser1286=) c.*2522G>A (n.*2522G>A) c.1999-6C>T c.4616G>A (n.4616G>A) c.3921-6C>T (n.3921-6C>T) c.1357C>T c.1178-85C>T n.237-85C>T c.3993C>T (p.Ser1331=) c.3939C>T (p.Ser1313=) c.3984-85C>T (n.3984-85C>T) c.3585C>T (p.Ser1195=) c.2274C>T (p.Ser758=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788159T>A | CA416361695 | C1orf167,MTHFR | c.3363-5T>A (n.3363-5T>A) c.3859T>A (p.Cys1287Ser) c.*2521A>T (n.*2521A>T) c.1999-5T>A c.4615A>T (n.4615A>T) c.3921-5T>A (n.3921-5T>A) c.1358T>A c.1178-84T>A n.237-84T>A c.3994T>A (p.Cys1332Ser) c.3940T>A (p.Cys1314Ser) c.3984-84T>A (n.3984-84T>A) c.3586T>A (p.Cys1196Ser) c.2275T>A (p.Cys759Ser) | |
1 | g.11788159T>C | CA416361696 | C1orf167,MTHFR | c.3363-5T>C (n.3363-5T>C) c.3859T>C (p.Cys1287Arg) c.*2521A>G (n.*2521A>G) c.1999-5T>C c.4615A>G (n.4615A>G) c.3921-5T>C (n.3921-5T>C) c.1358T>C c.1178-84T>C n.237-84T>C c.3994T>C (p.Cys1332Arg) c.3940T>C (p.Cys1314Arg) c.3984-84T>C (n.3984-84T>C) c.3586T>C (p.Cys1196Arg) c.2275T>C (p.Cys759Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788159T>G | CA416361697 | C1orf167,MTHFR | c.3363-5T>G (n.3363-5T>G) c.3859T>G (p.Cys1287Gly) c.*2521A>C (n.*2521A>C) c.1999-5T>G c.4615A>C (n.4615A>C) c.3921-5T>G (n.3921-5T>G) c.1358T>G c.1178-84T>G n.237-84T>G c.3994T>G (p.Cys1332Gly) c.3940T>G (p.Cys1314Gly) c.3984-84T>G (n.3984-84T>G) c.3586T>G (p.Cys1196Gly) c.2275T>G (p.Cys759Gly) | |
1 | g.11788159T= | CA1153786880 | C1orf167,MTHFR | c.3363-5T= (n.3363-5T=) c.3859T= (p.Cys1287=) c.*2521A= (n.*2521A=) c.1999-5T= c.4615A= (n.4615A=) c.3921-5T= (n.3921-5T=) c.1358T= c.1178-84T= n.237-84T= c.3994T= (p.Cys1332=) c.3940T= (p.Cys1314=) c.3984-84T= (n.3984-84T=) c.3586T= (p.Cys1196=) c.2275T= (p.Cys759=) | |
1 | g.11788160G>A | CA416361699 | C1orf167,MTHFR | c.3363-4G>A (n.3363-4G>A) c.3860G>A (p.Cys1287Tyr) c.*2520C>T (n.*2520C>T) c.1999-4G>A c.4614C>T (n.4614C>T) c.3921-4G>A (n.3921-4G>A) c.1359G>A c.1178-83G>A n.237-83G>A c.3995G>A (p.Cys1332Tyr) c.3941G>A (p.Cys1314Tyr) c.3984-83G>A (n.3984-83G>A) c.3587G>A (p.Cys1196Tyr) c.2276G>A (p.Cys759Tyr) | gnomAD v4 |
1 | g.11788160G>C | CA416361700 | C1orf167,MTHFR | c.3363-4G>C (n.3363-4G>C) c.3860G>C (p.Cys1287Ser) c.*2520C>G (n.*2520C>G) c.1999-4G>C c.4614C>G (n.4614C>G) c.3921-4G>C (n.3921-4G>C) c.1359G>C c.1178-83G>C n.237-83G>C c.3995G>C (p.Cys1332Ser) c.3941G>C (p.Cys1314Ser) c.3984-83G>C (n.3984-83G>C) c.3587G>C (p.Cys1196Ser) c.2276G>C (p.Cys759Ser) | |
1 | g.11788160G>T | CA416361698 | C1orf167,MTHFR | c.3363-4G>T (n.3363-4G>T) c.3860G>T (p.Cys1287Phe) c.*2520C>A (n.*2520C>A) c.1999-4G>T c.4614C>A (n.4614C>A) c.3921-4G>T (n.3921-4G>T) c.1359G>T c.1178-83G>T n.237-83G>T c.3995G>T (p.Cys1332Phe) c.3941G>T (p.Cys1314Phe) c.3984-83G>T (n.3984-83G>T) c.3587G>T (p.Cys1196Phe) c.2276G>T (p.Cys759Phe) | |
1 | g.11788161C>A | CA416361701 | C1orf167,MTHFR | c.3363-3C>A (n.3363-3C>A) c.3861C>A (p.Cys1287Ter) c.*2519G>T (n.*2519G>T) c.1999-3C>A c.4613G>T (n.4613G>T) c.3921-3C>A (n.3921-3C>A) c.1360C>A c.1178-82C>A n.237-82C>A c.3996C>A (p.Cys1332Ter) c.3942C>A (p.Cys1314Ter) c.3984-82C>A (n.3984-82C>A) c.3588C>A (p.Cys1196Ter) c.2277C>A (p.Cys759Ter) | gnomAD v4 |
1 | g.11788161C>G | CA416361702 | C1orf167,MTHFR | c.3363-3C>G (n.3363-3C>G) c.3861C>G (p.Cys1287Trp) c.*2519G>C (n.*2519G>C) c.1999-3C>G c.4613G>C (n.4613G>C) c.3921-3C>G (n.3921-3C>G) c.1360C>G c.1178-82C>G n.237-82C>G c.3996C>G (p.Cys1332Trp) c.3942C>G (p.Cys1314Trp) c.3984-82C>G (n.3984-82C>G) c.3588C>G (p.Cys1196Trp) c.2277C>G (p.Cys759Trp) | |
1 | g.11788161C>T | CA416361703 | C1orf167,MTHFR | c.3363-3C>T (n.3363-3C>T) c.3861C>T (p.Cys1287=) c.*2519G>A (n.*2519G>A) c.1999-3C>T c.4613G>A (n.4613G>A) c.3921-3C>T (n.3921-3C>T) c.1360C>T c.1178-82C>T n.237-82C>T c.3996C>T (p.Cys1332=) c.3942C>T (p.Cys1314=) c.3984-82C>T (n.3984-82C>T) c.3588C>T (p.Cys1196=) c.2277C>T (p.Cys759=) | gnomAD v4 |
1 | g.11788162A>C | CA338470058 | C1orf167,MTHFR | c.3363-2A>C (n.3363-2A>C) c.3862A>C (p.Arg1288=) c.*2518T>G (n.*2518T>G) c.1999-2A>C c.4612T>G (n.4612T>G) c.3921-2A>C (n.3921-2A>C) c.1361A>C c.1178-81A>C n.237-81A>C c.3997A>C (p.Arg1333=) c.3943A>C (p.Arg1315=) c.3984-81A>C (n.3984-81A>C) c.3589A>C (p.Arg1197=) c.2278A>C (p.Arg760=) | |
1 | g.11788162A>G | CA338470059 | C1orf167,MTHFR | c.3363-2A>G (n.3363-2A>G) c.3862A>G (p.Arg1288Gly) c.*2518T>C (n.*2518T>C) c.1999-2A>G c.4612T>C (n.4612T>C) c.3921-2A>G (n.3921-2A>G) c.1361A>G c.1178-81A>G n.237-81A>G c.3997A>G (p.Arg1333Gly) c.3943A>G (p.Arg1315Gly) c.3984-81A>G (n.3984-81A>G) c.3589A>G (p.Arg1197Gly) c.2278A>G (p.Arg760Gly) | |
1 | g.11788162A>T | CA338470060 | C1orf167,MTHFR | c.3363-2A>T (n.3363-2A>T) c.3862A>T (p.Arg1288Trp) c.*2518T>A (n.*2518T>A) c.1999-2A>T c.4612T>A (n.4612T>A) c.3921-2A>T (n.3921-2A>T) c.1361A>T c.1178-81A>T n.237-81A>T c.3997A>T (p.Arg1333Trp) c.3943A>T (p.Arg1315Trp) c.3984-81A>T (n.3984-81A>T) c.3589A>T (p.Arg1197Trp) c.2278A>T (p.Arg760Trp) | |
1 | g.11788163G>A | CA338470061 | C1orf167,MTHFR | c.3363-1G>A (n.3363-1G>A) c.3863G>A (p.Arg1288Lys) c.*2517C>T (n.*2517C>T) c.1999-1G>A c.4611C>T (n.4611C>T) c.3921-1G>A (n.3921-1G>A) c.1362G>A c.1178-80G>A n.237-80G>A c.3998G>A (p.Arg1333Lys) c.3944G>A (p.Arg1315Lys) c.3984-80G>A (n.3984-80G>A) c.3590G>A (p.Arg1197Lys) c.2279G>A (p.Arg760Lys) | |
1 | g.11788163G>C | CA338470062 | C1orf167,MTHFR | c.3363-1G>C (n.3363-1G>C) c.3863G>C (p.Arg1288Thr) c.*2517C>G (n.*2517C>G) c.1999-1G>C c.4611C>G (n.4611C>G) c.3921-1G>C (n.3921-1G>C) c.1362G>C c.1178-80G>C n.237-80G>C c.3998G>C (p.Arg1333Thr) c.3944G>C (p.Arg1315Thr) c.3984-80G>C (n.3984-80G>C) c.3590G>C (p.Arg1197Thr) c.2279G>C (p.Arg760Thr) | |
1 | g.11788163G>T | CA338470063 | C1orf167,MTHFR | c.3363-1G>T (n.3363-1G>T) c.3863G>T (p.Arg1288Met) c.*2517C>A (n.*2517C>A) c.1999-1G>T c.4611C>A (n.4611C>A) c.3921-1G>T (n.3921-1G>T) c.1362G>T c.1178-80G>T n.237-80G>T c.3998G>T (p.Arg1333Met) c.3944G>T (p.Arg1315Met) c.3984-80G>T (n.3984-80G>T) c.3590G>T (p.Arg1197Met) c.2279G>T (p.Arg760Met) | |
1 | g.11788164G>A | CA416361704 | C1orf167,MTHFR | c.3363G>A (p.Arg1121=) c.3864G>A (p.Arg1288=) c.*2516C>T (n.*2516C>T) c.1999G>A c.4610C>T (n.4610C>T) c.3921G>A (p.Arg1307=) c.1363G>A c.1178-79G>A n.237-79G>A c.3999G>A (p.Arg1333=) c.3945G>A (p.Arg1315=) c.3984-79G>A (n.3984-79G>A) c.3591G>A (p.Arg1197=) c.2280G>A (p.Arg760=) | |
1 | g.11788164G>C | CA416361705 | C1orf167,MTHFR | c.3363G>C (p.Arg1121=) c.3864G>C (p.Arg1288Ser) c.*2516C>G (n.*2516C>G) c.1999G>C c.4610C>G (n.4610C>G) c.3921G>C (p.Arg1307=) c.1363G>C c.1178-79G>C n.237-79G>C c.3999G>C (p.Arg1333Ser) c.3945G>C (p.Arg1315Ser) c.3984-79G>C (n.3984-79G>C) c.3591G>C (p.Arg1197Ser) c.2280G>C (p.Arg760Ser) | gnomAD v4 |
1 | g.11788164G>T | CA416361706 | C1orf167,MTHFR | c.3363G>T (p.Arg1121=) c.3864G>T (p.Arg1288Ser) c.*2516C>A (n.*2516C>A) c.1999G>T c.4610C>A (n.4610C>A) c.3921G>T (p.Arg1307=) c.1363G>T c.1178-79G>T n.237-79G>T c.3999G>T (p.Arg1333Ser) c.3945G>T (p.Arg1315Ser) c.3984-79G>T (n.3984-79G>T) c.3591G>T (p.Arg1197Ser) c.2280G>T (p.Arg760Ser) | dbSNP |
1 | g.11788165A>C | CA338470064 | C1orf167,MTHFR | c.3364A>C (p.Ile1122Leu) c.3865A>C (p.Ile1289Leu) c.*2515T>G (n.*2515T>G) c.2000A>C c.4609T>G (n.4609T>G) c.3922A>C (p.Ile1308Leu) c.1364A>C c.1178-78A>C n.237-78A>C c.4000A>C (p.Ile1334Leu) c.3946A>C (p.Ile1316Leu) c.3984-78A>C (n.3984-78A>C) c.3592A>C (p.Ile1198Leu) c.2281A>C (p.Ile761Leu) | gnomAD v4 |
1 | g.11788165A>G | CA338470065 | C1orf167,MTHFR | c.3364A>G (p.Ile1122Val) c.3865A>G (p.Ile1289Val) c.*2515T>C (n.*2515T>C) c.2000A>G c.4609T>C (n.4609T>C) c.3922A>G (p.Ile1308Val) c.1364A>G c.1178-78A>G n.237-78A>G c.4000A>G (p.Ile1334Val) c.3946A>G (p.Ile1316Val) c.3984-78A>G (n.3984-78A>G) c.3592A>G (p.Ile1198Val) c.2281A>G (p.Ile761Val) | |
1 | g.11788165A>T | CA338470066 | C1orf167,MTHFR | c.3364A>T (p.Ile1122Phe) c.3865A>T (p.Ile1289Phe) c.*2515T>A (n.*2515T>A) c.2000A>T c.4609T>A (n.4609T>A) c.3922A>T (p.Ile1308Phe) c.1364A>T c.1178-78A>T n.237-78A>T c.4000A>T (p.Ile1334Phe) c.3946A>T (p.Ile1316Phe) c.3984-78A>T (n.3984-78A>T) c.3592A>T (p.Ile1198Phe) c.2281A>T (p.Ile761Phe) | |
1 | g.11788166T>A | CA338470068 | C1orf167,MTHFR | c.3365T>A (p.Ile1122Asn) c.3866T>A (p.Ile1289Asn) c.*2514A>T (n.*2514A>T) c.2001T>A c.4608A>T (n.4608A>T) c.3923T>A (p.Ile1308Asn) c.1365T>A c.1178-77T>A n.237-77T>A c.4001T>A (p.Ile1334Asn) c.3947T>A (p.Ile1316Asn) c.3984-77T>A (n.3984-77T>A) c.3593T>A (p.Ile1198Asn) c.2282T>A (p.Ile761Asn) | |
1 | g.11788166T>C | CA338470069 | C1orf167,MTHFR | c.3365T>C (p.Ile1122Thr) c.3866T>C (p.Ile1289Thr) c.*2514A>G (n.*2514A>G) c.2001T>C c.4608A>G (n.4608A>G) c.3923T>C (p.Ile1308Thr) c.1365T>C c.1178-77T>C n.237-77T>C c.4001T>C (p.Ile1334Thr) c.3947T>C (p.Ile1316Thr) c.3984-77T>C (n.3984-77T>C) c.3593T>C (p.Ile1198Thr) c.2282T>C (p.Ile761Thr) | |
1 | g.11788166T>G | CA338470067 | C1orf167,MTHFR | c.3365T>G (p.Ile1122Ser) c.3866T>G (p.Ile1289Ser) c.*2514A>C (n.*2514A>C) c.2001T>G c.4608A>C (n.4608A>C) c.3923T>G (p.Ile1308Ser) c.1365T>G c.1178-77T>G n.237-77T>G c.4001T>G (p.Ile1334Ser) c.3947T>G (p.Ile1316Ser) c.3984-77T>G (n.3984-77T>G) c.3593T>G (p.Ile1198Ser) c.2282T>G (p.Ile761Ser) | |
1 | g.11788167C>A | CA416361707 | C1orf167,MTHFR | c.3366C>A (p.Ile1122=) c.3867C>A (p.Ile1289=) c.*2513G>T (n.*2513G>T) c.2002C>A c.4607G>T (n.4607G>T) c.3924C>A (p.Ile1308=) c.1366C>A c.1178-76C>A n.237-76C>A c.4002C>A (p.Ile1334=) c.3948C>A (p.Ile1316=) c.3984-76C>A (n.3984-76C>A) c.3594C>A (p.Ile1198=) c.2283C>A (p.Ile761=) | gnomAD v4 |
1 | g.11788167C= | CA1153786882 | C1orf167,MTHFR | c.3366C= (p.Ile1122=) c.3867C= (p.Ile1289=) c.*2513G= (n.*2513G=) c.2002C= c.4607G= (n.4607G=) c.3924C= (p.Ile1308=) c.1366C= c.1178-76C= n.237-76C= c.4002C= (p.Ile1334=) c.3948C= (p.Ile1316=) c.3984-76C= (n.3984-76C=) c.3594C= (p.Ile1198=) c.2283C= (p.Ile761=) | |
1 | g.11788167C>G | CA338470070 | C1orf167,MTHFR | c.3366C>G (p.Ile1122Met) c.3867C>G (p.Ile1289Met) c.*2513G>C (n.*2513G>C) c.2002C>G c.4607G>C (n.4607G>C) c.3924C>G (p.Ile1308Met) c.1366C>G c.1178-76C>G n.237-76C>G c.4002C>G (p.Ile1334Met) c.3948C>G (p.Ile1316Met) c.3984-76C>G (n.3984-76C>G) c.3594C>G (p.Ile1198Met) c.2283C>G (p.Ile761Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788167C>T | CA416361708 | C1orf167,MTHFR | c.3366C>T (p.Ile1122=) c.3867C>T (p.Ile1289=) c.*2513G>A (n.*2513G>A) c.2002C>T c.4607G>A (n.4607G>A) c.3924C>T (p.Ile1308=) c.1366C>T c.1178-76C>T n.237-76C>T c.4002C>T (p.Ile1334=) c.3948C>T (p.Ile1316=) c.3984-76C>T (n.3984-76C>T) c.3594C>T (p.Ile1198=) c.2283C>T (p.Ile761=) | gnomAD v4 |
1 | g.11788168C>A | CA338470071 | C1orf167,MTHFR | c.3367C>A (p.Leu1123Met) c.3868C>A (p.Leu1290Met) c.*2512G>T (n.*2512G>T) c.2003C>A c.4606G>T (n.4606G>T) c.3925C>A (p.Leu1309Met) c.1367C>A c.1178-75C>A n.237-75C>A c.4003C>A (p.Leu1335Met) c.3949C>A (p.Leu1317Met) c.3984-75C>A (n.3984-75C>A) c.3595C>A (p.Leu1199Met) c.2284C>A (p.Leu762Met) | gnomAD v4 |
1 | g.11788168C>G | CA338470072 | C1orf167,MTHFR | c.3367C>G (p.Leu1123Val) c.3868C>G (p.Leu1290Val) c.*2512G>C (n.*2512G>C) c.2003C>G c.4606G>C (n.4606G>C) c.3925C>G (p.Leu1309Val) c.1367C>G c.1178-75C>G n.237-75C>G c.4003C>G (p.Leu1335Val) c.3949C>G (p.Leu1317Val) c.3984-75C>G (n.3984-75C>G) c.3595C>G (p.Leu1199Val) c.2284C>G (p.Leu762Val) | |
1 | g.11788168C>T | CA416361709 | C1orf167,MTHFR | c.3367C>T (p.Leu1123=) c.3868C>T (p.Leu1290=) c.*2512G>A (n.*2512G>A) c.2003C>T c.4606G>A (n.4606G>A) c.3925C>T (p.Leu1309=) c.1367C>T c.1178-75C>T n.237-75C>T c.4003C>T (p.Leu1335=) c.3949C>T (p.Leu1317=) c.3984-75C>T (n.3984-75C>T) c.3595C>T (p.Leu1199=) c.2284C>T (p.Leu762=) | |
1 | g.11788169T>A | CA338470073 | C1orf167,MTHFR | c.3368T>A (p.Leu1123Gln) c.3869T>A (p.Leu1290Gln) c.*2511A>T (n.*2511A>T) c.2004T>A c.4605A>T (n.4605A>T) c.3926T>A (p.Leu1309Gln) c.1368T>A c.1178-74T>A n.237-74T>A c.4004T>A (p.Leu1335Gln) c.3950T>A (p.Leu1317Gln) c.3984-74T>A (n.3984-74T>A) c.3596T>A (p.Leu1199Gln) c.2285T>A (p.Leu762Gln) | |
1 | g.11788169T>C | CA338470074 | C1orf167,MTHFR | c.3368T>C (p.Leu1123Pro) c.3869T>C (p.Leu1290Pro) c.*2511A>G (n.*2511A>G) c.2004T>C c.4605A>G (n.4605A>G) c.3926T>C (p.Leu1309Pro) c.1368T>C c.1178-74T>C n.237-74T>C c.4004T>C (p.Leu1335Pro) c.3950T>C (p.Leu1317Pro) c.3984-74T>C (n.3984-74T>C) c.3596T>C (p.Leu1199Pro) c.2285T>C (p.Leu762Pro) | gnomAD v4 |
1 | g.11788169T>G | CA338470075 | C1orf167,MTHFR | c.3368T>G (p.Leu1123Arg) c.3869T>G (p.Leu1290Arg) c.*2511A>C (n.*2511A>C) c.2004T>G c.4605A>C (n.4605A>C) c.3926T>G (p.Leu1309Arg) c.1368T>G c.1178-74T>G n.237-74T>G c.4004T>G (p.Leu1335Arg) c.3950T>G (p.Leu1317Arg) c.3984-74T>G (n.3984-74T>G) c.3596T>G (p.Leu1199Arg) c.2285T>G (p.Leu762Arg) | |
1 | g.11788170G>A | CA595075 | C1orf167,MTHFR | c.3369G>A (p.Leu1123=) c.3870G>A (p.Leu1290=) c.*2510C>T (n.*2510C>T) c.2005G>A c.4604C>T (n.4604C>T) c.3927G>A (p.Leu1309=) c.1369G>A c.1178-73G>A n.237-73G>A c.4005G>A (p.Leu1335=) c.3951G>A (p.Leu1317=) c.3984-73G>A (n.3984-73G>A) c.3597G>A (p.Leu1199=) c.2286G>A (p.Leu762=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788170G>C | CA416361710 | C1orf167,MTHFR | c.3369G>C (p.Leu1123=) c.3870G>C (p.Leu1290=) c.*2510C>G (n.*2510C>G) c.2005G>C c.4604C>G (n.4604C>G) c.3927G>C (p.Leu1309=) c.1369G>C c.1178-73G>C n.237-73G>C c.4005G>C (p.Leu1335=) c.3951G>C (p.Leu1317=) c.3984-73G>C (n.3984-73G>C) c.3597G>C (p.Leu1199=) c.2286G>C (p.Leu762=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788170G= | CA1146584869 | C1orf167,MTHFR | c.3369G= (p.Leu1123=) c.3870G= (p.Leu1290=) c.*2510C= (n.*2510C=) c.2005G= c.4604C= (n.4604C=) c.3927G= (p.Leu1309=) c.1369G= c.1178-73G= n.237-73G= c.4005G= (p.Leu1335=) c.3951G= (p.Leu1317=) c.3984-73G= (n.3984-73G=) c.3597G= (p.Leu1199=) c.2286G= (p.Leu762=) | |
1 | g.11788170G>T | CA416361711 | C1orf167,MTHFR | c.3369G>T (p.Leu1123=) c.3870G>T (p.Leu1290=) c.*2510C>A (n.*2510C>A) c.2005G>T c.4604C>A (n.4604C>A) c.3927G>T (p.Leu1309=) c.1369G>T c.1178-73G>T n.237-73G>T c.4005G>T (p.Leu1335=) c.3951G>T (p.Leu1317=) c.3984-73G>T (n.3984-73G>T) c.3597G>T (p.Leu1199=) c.2286G>T (p.Leu762=) | |
1 | g.11788171G>A | CA338470076 | C1orf167,MTHFR | c.3370G>A (p.Glu1124Lys) c.3871G>A (p.Glu1291Lys) c.*2509C>T (n.*2509C>T) c.2006G>A c.4603C>T (n.4603C>T) c.3928G>A (p.Glu1310Lys) c.1370G>A c.1178-72G>A n.237-72G>A c.4006G>A (p.Glu1336Lys) c.3952G>A (p.Glu1318Lys) c.3984-72G>A (n.3984-72G>A) c.3598G>A (p.Glu1200Lys) c.2287G>A (p.Glu763Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788171G>C | CA338470077 | C1orf167,MTHFR | c.3370G>C (p.Glu1124Gln) c.3871G>C (p.Glu1291Gln) c.*2509C>G (n.*2509C>G) c.2006G>C c.4603C>G (n.4603C>G) c.3928G>C (p.Glu1310Gln) c.1370G>C c.1178-72G>C n.237-72G>C c.4006G>C (p.Glu1336Gln) c.3952G>C (p.Glu1318Gln) c.3984-72G>C (n.3984-72G>C) c.3598G>C (p.Glu1200Gln) c.2287G>C (p.Glu763Gln) | |
1 | g.11788171G= | CA1153786892 | C1orf167,MTHFR | c.3370G= (p.Glu1124=) c.3871G= (p.Glu1291=) c.*2509C= (n.*2509C=) c.2006G= c.4603C= (n.4603C=) c.3928G= (p.Glu1310=) c.1370G= c.1178-72G= n.237-72G= c.4006G= (p.Glu1336=) c.3952G= (p.Glu1318=) c.3984-72G= (n.3984-72G=) c.3598G= (p.Glu1200=) c.2287G= (p.Glu763=) | |
1 | g.11788171G>T | CA338470078 | C1orf167,MTHFR | c.3370G>T (p.Glu1124Ter) c.3871G>T (p.Glu1291Ter) c.*2509C>A (n.*2509C>A) c.2006G>T c.4603C>A (n.4603C>A) c.3928G>T (p.Glu1310Ter) c.1370G>T c.1178-72G>T n.237-72G>T c.4006G>T (p.Glu1336Ter) c.3952G>T (p.Glu1318Ter) c.3984-72G>T (n.3984-72G>T) c.3598G>T (p.Glu1200Ter) c.2287G>T (p.Glu763Ter) | gnomAD v4 |
1 | g.11788172A>C | CA338470079 | C1orf167,MTHFR | c.3371A>C (p.Glu1124Ala) c.3872A>C (p.Glu1291Ala) c.*2508T>G (n.*2508T>G) c.2007A>C c.4602T>G (n.4602T>G) c.3929A>C (p.Glu1310Ala) c.1371A>C c.1178-71A>C n.237-71A>C c.4007A>C (p.Glu1336Ala) c.3953A>C (p.Glu1318Ala) c.3984-71A>C (n.3984-71A>C) c.3599A>C (p.Glu1200Ala) c.2288A>C (p.Glu763Ala) | |
1 | g.11788172A>G | CA338470080 | C1orf167,MTHFR | c.3371A>G (p.Glu1124Gly) c.3872A>G (p.Glu1291Gly) c.*2508T>C (n.*2508T>C) c.2007A>G c.4602T>C (n.4602T>C) c.3929A>G (p.Glu1310Gly) c.1371A>G c.1178-71A>G n.237-71A>G c.4007A>G (p.Glu1336Gly) c.3953A>G (p.Glu1318Gly) c.3984-71A>G (n.3984-71A>G) c.3599A>G (p.Glu1200Gly) c.2288A>G (p.Glu763Gly) | |
1 | g.11788172A>T | CA338470081 | C1orf167,MTHFR | c.3371A>T (p.Glu1124Val) c.3872A>T (p.Glu1291Val) c.*2508T>A (n.*2508T>A) c.2007A>T c.4602T>A (n.4602T>A) c.3929A>T (p.Glu1310Val) c.1371A>T c.1178-71A>T n.237-71A>T c.4007A>T (p.Glu1336Val) c.3953A>T (p.Glu1318Val) c.3984-71A>T (n.3984-71A>T) c.3599A>T (p.Glu1200Val) c.2288A>T (p.Glu763Val) | |
1 | g.11788175del | CA2643295629 | C1orf167,MTHFR | c.3374del (p.Lys1125SerfsTer14) c.3875del (p.Lys1292SerfsTer14) c.*2508del (n.*2508del) c.2010del c.4602del (n.4602del) c.3932del (p.Lys1311SerfsTer14) c.1374del c.1178-68del n.237-68del c.4010del (p.Lys1337SerfsTer14) c.3956del (p.Lys1319SerfsTer14) c.3984-68del (n.3984-68del) c.3602del (p.Lys1201SerfsTer14) c.2291del (p.Lys764SerfsTer14) | gnomAD v4 |
1 | g.11788173A= | CA1153786899 | C1orf167,MTHFR | c.3372A= (p.Glu1124=) c.3873A= (p.Glu1291=) c.*2507T= (n.*2507T=) c.2008A= c.4601T= (n.4601T=) c.3930A= (p.Glu1310=) c.1372A= c.1178-70A= n.237-70A= c.4008A= (p.Glu1336=) c.3954A= (p.Glu1318=) c.3984-70A= (n.3984-70A=) c.3600A= (p.Glu1200=) c.2289A= (p.Glu763=) | |
1 | g.11788173A>C | CA338470083 | C1orf167,MTHFR | c.3372A>C (p.Glu1124Asp) c.3873A>C (p.Glu1291Asp) c.*2507T>G (n.*2507T>G) c.2008A>C c.4601T>G (n.4601T>G) c.3930A>C (p.Glu1310Asp) c.1372A>C c.1178-70A>C n.237-70A>C c.4008A>C (p.Glu1336Asp) c.3954A>C (p.Glu1318Asp) c.3984-70A>C (n.3984-70A>C) c.3600A>C (p.Glu1200Asp) c.2289A>C (p.Glu763Asp) | |
1 | g.11788173A>G | CA416361712 | C1orf167,MTHFR | c.3372A>G (p.Glu1124=) c.3873A>G (p.Glu1291=) c.*2507T>C (n.*2507T>C) c.2008A>G c.4601T>C (n.4601T>C) c.3930A>G (p.Glu1310=) c.1372A>G c.1178-70A>G n.237-70A>G c.4008A>G (p.Glu1336=) c.3954A>G (p.Glu1318=) c.3984-70A>G (n.3984-70A>G) c.3600A>G (p.Glu1200=) c.2289A>G (p.Glu763=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.11788173A>T | CA338470082 | C1orf167,MTHFR | c.3372A>T (p.Glu1124Asp) c.3873A>T (p.Glu1291Asp) c.*2507T>A (n.*2507T>A) c.2008A>T c.4601T>A (n.4601T>A) c.3930A>T (p.Glu1310Asp) c.1372A>T c.1178-70A>T n.237-70A>T c.4008A>T (p.Glu1336Asp) c.3954A>T (p.Glu1318Asp) c.3984-70A>T (n.3984-70A>T) c.3600A>T (p.Glu1200Asp) c.2289A>T (p.Glu763Asp) | |
1 | g.11788174A>C | CA338470084 | C1orf167,MTHFR | c.3373A>C (p.Lys1125Gln) c.3874A>C (p.Lys1292Gln) c.*2506T>G (n.*2506T>G) c.2009A>C c.4600T>G (n.4600T>G) c.3931A>C (p.Lys1311Gln) c.1373A>C c.1178-69A>C n.237-69A>C c.4009A>C (p.Lys1337Gln) c.3955A>C (p.Lys1319Gln) c.3984-69A>C (n.3984-69A>C) c.3601A>C (p.Lys1201Gln) c.2290A>C (p.Lys764Gln) | |
1 | g.11788174A>G | CA338470085 | C1orf167,MTHFR | c.3373A>G (p.Lys1125Glu) c.3874A>G (p.Lys1292Glu) c.*2506T>C (n.*2506T>C) c.2009A>G c.4600T>C (n.4600T>C) c.3931A>G (p.Lys1311Glu) c.1373A>G c.1178-69A>G n.237-69A>G c.4009A>G (p.Lys1337Glu) c.3955A>G (p.Lys1319Glu) c.3984-69A>G (n.3984-69A>G) c.3601A>G (p.Lys1201Glu) c.2290A>G (p.Lys764Glu) | |
1 | g.11788174A>T | CA338470086 | C1orf167,MTHFR | c.3373A>T (p.Lys1125Ter) c.3874A>T (p.Lys1292Ter) c.*2506T>A (n.*2506T>A) c.2009A>T c.4600T>A (n.4600T>A) c.3931A>T (p.Lys1311Ter) c.1373A>T c.1178-69A>T n.237-69A>T c.4009A>T (p.Lys1337Ter) c.3955A>T (p.Lys1319Ter) c.3984-69A>T (n.3984-69A>T) c.3601A>T (p.Lys1201Ter) c.2290A>T (p.Lys764Ter) | |
1 | g.11788175A>C | CA338470087 | C1orf167,MTHFR | c.3374A>C (p.Lys1125Thr) c.3875A>C (p.Lys1292Thr) c.*2505T>G (n.*2505T>G) c.2010A>C c.4599T>G (n.4599T>G) c.3932A>C (p.Lys1311Thr) c.1374A>C c.1178-68A>C n.237-68A>C c.4010A>C (p.Lys1337Thr) c.3956A>C (p.Lys1319Thr) c.3984-68A>C (n.3984-68A>C) c.3602A>C (p.Lys1201Thr) c.2291A>C (p.Lys764Thr) | |
1 | g.11788175A>G | CA338470088 | C1orf167,MTHFR | c.3374A>G (p.Lys1125Arg) c.3875A>G (p.Lys1292Arg) c.*2505T>C (n.*2505T>C) c.2010A>G c.4599T>C (n.4599T>C) c.3932A>G (p.Lys1311Arg) c.1374A>G c.1178-68A>G n.237-68A>G c.4010A>G (p.Lys1337Arg) c.3956A>G (p.Lys1319Arg) c.3984-68A>G (n.3984-68A>G) c.3602A>G (p.Lys1201Arg) c.2291A>G (p.Lys764Arg) | |
1 | g.11788175A>T | CA338470089 | C1orf167,MTHFR | c.3374A>T (p.Lys1125Met) c.3875A>T (p.Lys1292Met) c.*2505T>A (n.*2505T>A) c.2010A>T c.4599T>A (n.4599T>A) c.3932A>T (p.Lys1311Met) c.1374A>T c.1178-68A>T n.237-68A>T c.4010A>T (p.Lys1337Met) c.3956A>T (p.Lys1319Met) c.3984-68A>T (n.3984-68A>T) c.3602A>T (p.Lys1201Met) c.2291A>T (p.Lys764Met) | |
1 | g.11788176G>A | CA416361713 | C1orf167,MTHFR | c.3375G>A (p.Lys1125=) c.3876G>A (p.Lys1292=) c.*2504C>T (n.*2504C>T) c.2011G>A c.4598C>T (n.4598C>T) c.3933G>A (p.Lys1311=) c.1375G>A c.1178-67G>A n.237-67G>A c.4011G>A (p.Lys1337=) c.3957G>A (p.Lys1319=) c.3984-67G>A (n.3984-67G>A) c.3603G>A (p.Lys1201=) c.2292G>A (p.Lys764=) | |
1 | g.11788176G>C | CA338470090 | C1orf167,MTHFR | c.3375G>C (p.Lys1125Asn) c.3876G>C (p.Lys1292Asn) c.*2504C>G (n.*2504C>G) c.2011G>C c.4598C>G (n.4598C>G) c.3933G>C (p.Lys1311Asn) c.1375G>C c.1178-67G>C n.237-67G>C c.4011G>C (p.Lys1337Asn) c.3957G>C (p.Lys1319Asn) c.3984-67G>C (n.3984-67G>C) c.3603G>C (p.Lys1201Asn) c.2292G>C (p.Lys764Asn) | dbSNP |
1 | g.11788176G= | CA1153786906 | C1orf167,MTHFR | c.3375G= (p.Lys1125=) c.3876G= (p.Lys1292=) c.*2504C= (n.*2504C=) c.2011G= c.4598C= (n.4598C=) c.3933G= (p.Lys1311=) c.1375G= c.1178-67G= n.237-67G= c.4011G= (p.Lys1337=) c.3957G= (p.Lys1319=) c.3984-67G= (n.3984-67G=) c.3603G= (p.Lys1201=) c.2292G= (p.Lys764=) | |
1 | g.11788176G>T | CA338470091 | C1orf167,MTHFR | c.3375G>T (p.Lys1125Asn) c.3876G>T (p.Lys1292Asn) c.*2504C>A (n.*2504C>A) c.2011G>T c.4598C>A (n.4598C>A) c.3933G>T (p.Lys1311Asn) c.1375G>T c.1178-67G>T n.237-67G>T c.4011G>T (p.Lys1337Asn) c.3957G>T (p.Lys1319Asn) c.3984-67G>T (n.3984-67G>T) c.3603G>T (p.Lys1201Asn) c.2292G>T (p.Lys764Asn) | gnomAD v4 |
1 | g.11788177C>A | CA338470092 | C1orf167,MTHFR | c.3376C>A (p.Gln1126Lys) c.3877C>A (p.Gln1293Lys) c.*2503G>T (n.*2503G>T) c.2012C>A c.4597G>T (n.4597G>T) c.3934C>A (p.Gln1312Lys) c.1376C>A c.1178-66C>A n.237-66C>A c.4012C>A (p.Gln1338Lys) c.3958C>A (p.Gln1320Lys) c.3984-66C>A (n.3984-66C>A) c.3604C>A (p.Gln1202Lys) c.2293C>A (p.Gln765Lys) | |
1 | g.11788177C= | CA1153786911 | C1orf167,MTHFR | c.3376C= (p.Gln1126=) c.3877C= (p.Gln1293=) c.*2503G= (n.*2503G=) c.2012C= c.4597G= (n.4597G=) c.3934C= (p.Gln1312=) c.1376C= c.1178-66C= n.237-66C= c.4012C= (p.Gln1338=) c.3958C= (p.Gln1320=) c.3984-66C= (n.3984-66C=) c.3604C= (p.Gln1202=) c.2293C= (p.Gln765=) | |
1 | g.11788177C>G | CA338470093 | C1orf167,MTHFR | c.3376C>G (p.Gln1126Glu) c.3877C>G (p.Gln1293Glu) c.*2503G>C (n.*2503G>C) c.2012C>G c.4597G>C (n.4597G>C) c.3934C>G (p.Gln1312Glu) c.1376C>G c.1178-66C>G n.237-66C>G c.4012C>G (p.Gln1338Glu) c.3958C>G (p.Gln1320Glu) c.3984-66C>G (n.3984-66C>G) c.3604C>G (p.Gln1202Glu) c.2293C>G (p.Gln765Glu) | |
1 | g.11788177C>T | CA17996185 | C1orf167,MTHFR | c.3376C>T (p.Gln1126Ter) c.3877C>T (p.Gln1293Ter) c.*2503G>A (n.*2503G>A) c.2012C>T c.4597G>A (n.4597G>A) c.3934C>T (p.Gln1312Ter) c.1376C>T c.1178-66C>T n.237-66C>T c.4012C>T (p.Gln1338Ter) c.3958C>T (p.Gln1320Ter) c.3984-66C>T (n.3984-66C>T) c.3604C>T (p.Gln1202Ter) c.2293C>T (p.Gln765Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788185_11788190dup | CA521454912 | C1orf167,MTHFR | c.3384_3389dup (p.Ala1129_His1130insGlnAla) c.3885_3890dup (p.Ala1296_His1297insGlnAla) c.*2498_*2503dup (n.*2498_*2503dup) c.2020_2025dup c.4592_4597dup (n.4592_4597dup) c.3942_3947dup (p.Ala1315_His1316insGlnAla) c.1384_1389dup c.1178-58_1178-53dup n.237-58_237-53dup c.4020_4025dup (p.Ala1341_His1342insGlnAla) c.3966_3971dup (p.Ala1323_His1324insGlnAla) c.3984-58_3984-53dup (n.3984-58_3984-53dup) c.3612_3617dup (p.Ala1205_His1206insGlnAla) c.2301_2306dup (p.Ala768_His769insGlnAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788178A= | CA1153786916 | C1orf167,MTHFR | c.3377A= (p.Gln1126=) c.3878A= (p.Gln1293=) c.*2502T= (n.*2502T=) c.2013A= c.4596T= (n.4596T=) c.3935A= (p.Gln1312=) c.1377A= c.1178-65A= n.237-65A= c.4013A= (p.Gln1338=) c.3959A= (p.Gln1320=) c.3984-65A= (n.3984-65A=) c.3605A= (p.Gln1202=) c.2294A= (p.Gln765=) | |
1 | g.11788178A>C | CA338470094 | C1orf167,MTHFR | c.3377A>C (p.Gln1126Pro) c.3878A>C (p.Gln1293Pro) c.*2502T>G (n.*2502T>G) c.2013A>C c.4596T>G (n.4596T>G) c.3935A>C (p.Gln1312Pro) c.1377A>C c.1178-65A>C n.237-65A>C c.4013A>C (p.Gln1338Pro) c.3959A>C (p.Gln1320Pro) c.3984-65A>C (n.3984-65A>C) c.3605A>C (p.Gln1202Pro) c.2294A>C (p.Gln765Pro) | |
1 | g.11788178A>G | CA338470095 | C1orf167,MTHFR | c.3377A>G (p.Gln1126Arg) c.3878A>G (p.Gln1293Arg) c.*2502T>C (n.*2502T>C) c.2013A>G c.4596T>C (n.4596T>C) c.3935A>G (p.Gln1312Arg) c.1377A>G c.1178-65A>G n.237-65A>G c.4013A>G (p.Gln1338Arg) c.3959A>G (p.Gln1320Arg) c.3984-65A>G (n.3984-65A>G) c.3605A>G (p.Gln1202Arg) c.2294A>G (p.Gln765Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788178A>T | CA338470096 | C1orf167,MTHFR | c.3377A>T (p.Gln1126Leu) c.3878A>T (p.Gln1293Leu) c.*2502T>A (n.*2502T>A) c.2013A>T c.4596T>A (n.4596T>A) c.3935A>T (p.Gln1312Leu) c.1377A>T c.1178-65A>T n.237-65A>T c.4013A>T (p.Gln1338Leu) c.3959A>T (p.Gln1320Leu) c.3984-65A>T (n.3984-65A>T) c.3605A>T (p.Gln1202Leu) c.2294A>T (p.Gln765Leu) | |
1 | g.11788179G>A | CA416361714 | C1orf167,MTHFR | c.3378G>A (p.Gln1126=) c.3879G>A (p.Gln1293=) c.*2501C>T (n.*2501C>T) c.2014G>A c.4595C>T (n.4595C>T) c.3936G>A (p.Gln1312=) c.1378G>A c.1178-64G>A n.237-64G>A c.4014G>A (p.Gln1338=) c.3960G>A (p.Gln1320=) c.3984-64G>A (n.3984-64G>A) c.3606G>A (p.Gln1202=) c.2295G>A (p.Gln765=) | gnomAD v4 |
1 | g.11788179G>C | CA338470098 | C1orf167,MTHFR | c.3378G>C (p.Gln1126His) c.3879G>C (p.Gln1293His) c.*2501C>G (n.*2501C>G) c.2014G>C c.4595C>G (n.4595C>G) c.3936G>C (p.Gln1312His) c.1378G>C c.1178-64G>C n.237-64G>C c.4014G>C (p.Gln1338His) c.3960G>C (p.Gln1320His) c.3984-64G>C (n.3984-64G>C) c.3606G>C (p.Gln1202His) c.2295G>C (p.Gln765His) | |
1 | g.11788179G>T | CA338470097 | C1orf167,MTHFR | c.3378G>T (p.Gln1126His) c.3879G>T (p.Gln1293His) c.*2501C>A (n.*2501C>A) c.2014G>T c.4595C>A (n.4595C>A) c.3936G>T (p.Gln1312His) c.1378G>T c.1178-64G>T n.237-64G>T c.4014G>T (p.Gln1338His) c.3960G>T (p.Gln1320His) c.3984-64G>T (n.3984-64G>T) c.3606G>T (p.Gln1202His) c.2295G>T (p.Gln765His) | |
1 | g.11788180G>A | CA17996189 | C1orf167,MTHFR | c.3379G>A (p.Ala1127Thr) c.3880G>A (p.Ala1294Thr) c.*2500C>T (n.*2500C>T) c.2015G>A c.4594C>T (n.4594C>T) c.3937G>A (p.Ala1313Thr) c.1379G>A c.1178-63G>A n.237-63G>A c.4015G>A (p.Ala1339Thr) c.3961G>A (p.Ala1321Thr) c.3984-63G>A (n.3984-63G>A) c.3607G>A (p.Ala1203Thr) c.2296G>A (p.Ala766Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788180G>C | CA338470100 | C1orf167,MTHFR | c.3379G>C (p.Ala1127Pro) c.3880G>C (p.Ala1294Pro) c.*2500C>G (n.*2500C>G) c.2015G>C c.4594C>G (n.4594C>G) c.3937G>C (p.Ala1313Pro) c.1379G>C c.1178-63G>C n.237-63G>C c.4015G>C (p.Ala1339Pro) c.3961G>C (p.Ala1321Pro) c.3984-63G>C (n.3984-63G>C) c.3607G>C (p.Ala1203Pro) c.2296G>C (p.Ala766Pro) | |
1 | g.11788180G= | CA1153786919 | C1orf167,MTHFR | c.3379G= (p.Ala1127=) c.3880G= (p.Ala1294=) c.*2500C= (n.*2500C=) c.2015G= c.4594C= (n.4594C=) c.3937G= (p.Ala1313=) c.1379G= c.1178-63G= n.237-63G= c.4015G= (p.Ala1339=) c.3961G= (p.Ala1321=) c.3984-63G= (n.3984-63G=) c.3607G= (p.Ala1203=) c.2296G= (p.Ala766=) | |
1 | g.11788180G>T | CA338470099 | C1orf167,MTHFR | c.3379G>T (p.Ala1127Ser) c.3880G>T (p.Ala1294Ser) c.*2500C>A (n.*2500C>A) c.2015G>T c.4594C>A (n.4594C>A) c.3937G>T (p.Ala1313Ser) c.1379G>T c.1178-63G>T n.237-63G>T c.4015G>T (p.Ala1339Ser) c.3961G>T (p.Ala1321Ser) c.3984-63G>T (n.3984-63G>T) c.3607G>T (p.Ala1203Ser) c.2296G>T (p.Ala766Ser) | |
1 | g.11788181C>A | CA338470101 | C1orf167,MTHFR | c.3380C>A (p.Ala1127Asp) c.3881C>A (p.Ala1294Asp) c.*2499G>T (n.*2499G>T) c.2016C>A c.4593G>T (n.4593G>T) c.3938C>A (p.Ala1313Asp) c.1380C>A c.1178-62C>A n.237-62C>A c.4016C>A (p.Ala1339Asp) c.3962C>A (p.Ala1321Asp) c.3984-62C>A (n.3984-62C>A) c.3608C>A (p.Ala1203Asp) c.2297C>A (p.Ala766Asp) | |
1 | g.11788181C>G | CA338470102 | C1orf167,MTHFR | c.3380C>G (p.Ala1127Gly) c.3881C>G (p.Ala1294Gly) c.*2499G>C (n.*2499G>C) c.2016C>G c.4593G>C (n.4593G>C) c.3938C>G (p.Ala1313Gly) c.1380C>G c.1178-62C>G n.237-62C>G c.4016C>G (p.Ala1339Gly) c.3962C>G (p.Ala1321Gly) c.3984-62C>G (n.3984-62C>G) c.3608C>G (p.Ala1203Gly) c.2297C>G (p.Ala766Gly) | |
1 | g.11788181C>T | CA338470103 | C1orf167,MTHFR | c.3380C>T (p.Ala1127Val) c.3881C>T (p.Ala1294Val) c.*2499G>A (n.*2499G>A) c.2016C>T c.4593G>A (n.4593G>A) c.3938C>T (p.Ala1313Val) c.1380C>T c.1178-62C>T n.237-62C>T c.4016C>T (p.Ala1339Val) c.3962C>T (p.Ala1321Val) c.3984-62C>T (n.3984-62C>T) c.3608C>T (p.Ala1203Val) c.2297C>T (p.Ala766Val) | |
1 | g.11788182C>A | CA416361715 | C1orf167,MTHFR | c.3381C>A (p.Ala1127=) c.3882C>A (p.Ala1294=) c.*2498G>T (n.*2498G>T) c.2017C>A c.4592G>T (n.4592G>T) c.3939C>A (p.Ala1313=) c.1381C>A c.1178-61C>A n.237-61C>A c.4017C>A (p.Ala1339=) c.3963C>A (p.Ala1321=) c.3984-61C>A (n.3984-61C>A) c.3609C>A (p.Ala1203=) c.2298C>A (p.Ala766=) | gnomAD v4 |
1 | g.11788182C= | CA1153786924 | C1orf167,MTHFR | c.3381C= (p.Ala1127=) c.3882C= (p.Ala1294=) c.*2498G= (n.*2498G=) c.2017C= c.4592G= (n.4592G=) c.3939C= (p.Ala1313=) c.1381C= c.1178-61C= n.237-61C= c.4017C= (p.Ala1339=) c.3963C= (p.Ala1321=) c.3984-61C= (n.3984-61C=) c.3609C= (p.Ala1203=) c.2298C= (p.Ala766=) | |
1 | g.11788182C>G | CA416361717 | C1orf167,MTHFR | c.3381C>G (p.Ala1127=) c.3882C>G (p.Ala1294=) c.*2498G>C (n.*2498G>C) c.2017C>G c.4592G>C (n.4592G>C) c.3939C>G (p.Ala1313=) c.1381C>G c.1178-61C>G n.237-61C>G c.4017C>G (p.Ala1339=) c.3963C>G (p.Ala1321=) c.3984-61C>G (n.3984-61C>G) c.3609C>G (p.Ala1203=) c.2298C>G (p.Ala766=) | |
1 | g.11788182C>T | CA416361716 | C1orf167,MTHFR | c.3381C>T (p.Ala1127=) c.3882C>T (p.Ala1294=) c.*2498G>A (n.*2498G>A) c.2017C>T c.4592G>A (n.4592G>A) c.3939C>T (p.Ala1313=) c.1381C>T c.1178-61C>T n.237-61C>T c.4017C>T (p.Ala1339=) c.3963C>T (p.Ala1321=) c.3984-61C>T (n.3984-61C>T) c.3609C>T (p.Ala1203=) c.2298C>T (p.Ala766=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788183C>A | CA338470104 | C1orf167,MTHFR | c.3382C>A (p.Gln1128Lys) c.3883C>A (p.Gln1295Lys) c.*2497G>T (n.*2497G>T) c.2018C>A c.4591G>T (n.4591G>T) c.3940C>A (p.Gln1314Lys) c.1382C>A c.1178-60C>A n.237-60C>A c.4018C>A (p.Gln1340Lys) c.3964C>A (p.Gln1322Lys) c.3984-60C>A (n.3984-60C>A) c.3610C>A (p.Gln1204Lys) c.2299C>A (p.Gln767Lys) | gnomAD v4 |
1 | g.11788183C= | CA1147237561 | C1orf167,MTHFR | c.3382C= (p.Gln1128=) c.3883C= (p.Gln1295=) c.*2497G= (n.*2497G=) c.2018C= c.4591G= (n.4591G=) c.3940C= (p.Gln1314=) c.1382C= c.1178-60C= n.237-60C= c.4018C= (p.Gln1340=) c.3964C= (p.Gln1322=) c.3984-60C= (n.3984-60C=) c.3610C= (p.Gln1204=) c.2299C= (p.Gln767=) | |
1 | g.11788183C>G | CA338470105 | C1orf167,MTHFR | c.3382C>G (p.Gln1128Glu) c.3883C>G (p.Gln1295Glu) c.*2497G>C (n.*2497G>C) c.2018C>G c.4591G>C (n.4591G>C) c.3940C>G (p.Gln1314Glu) c.1382C>G c.1178-60C>G n.237-60C>G c.4018C>G (p.Gln1340Glu) c.3964C>G (p.Gln1322Glu) c.3984-60C>G (n.3984-60C>G) c.3610C>G (p.Gln1204Glu) c.2299C>G (p.Gln767Glu) | |
1 | g.11788183C>T | CA595076 | C1orf167,MTHFR | c.3382C>T (p.Gln1128Ter) c.3883C>T (p.Gln1295Ter) c.*2497G>A (n.*2497G>A) c.2018C>T c.4591G>A (n.4591G>A) c.3940C>T (p.Gln1314Ter) c.1382C>T c.1178-60C>T n.237-60C>T c.4018C>T (p.Gln1340Ter) c.3964C>T (p.Gln1322Ter) c.3984-60C>T (n.3984-60C>T) c.3610C>T (p.Gln1204Ter) c.2299C>T (p.Gln767Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788184A>C | CA338470106 | C1orf167,MTHFR | c.3383A>C (p.Gln1128Pro) c.3884A>C (p.Gln1295Pro) c.*2496T>G (n.*2496T>G) c.2019A>C c.4590T>G (n.4590T>G) c.3941A>C (p.Gln1314Pro) c.1383A>C c.1178-59A>C n.237-59A>C c.4019A>C (p.Gln1340Pro) c.3965A>C (p.Gln1322Pro) c.3984-59A>C (n.3984-59A>C) c.3611A>C (p.Gln1204Pro) c.2300A>C (p.Gln767Pro) | gnomAD v4 |
1 | g.11788184A>G | CA338470107 | C1orf167,MTHFR | c.3383A>G (p.Gln1128Arg) c.3884A>G (p.Gln1295Arg) c.*2496T>C (n.*2496T>C) c.2019A>G c.4590T>C (n.4590T>C) c.3941A>G (p.Gln1314Arg) c.1383A>G c.1178-59A>G n.237-59A>G c.4019A>G (p.Gln1340Arg) c.3965A>G (p.Gln1322Arg) c.3984-59A>G (n.3984-59A>G) c.3611A>G (p.Gln1204Arg) c.2300A>G (p.Gln767Arg) | gnomAD v4 |
1 | g.11788184A>T | CA338470108 | C1orf167,MTHFR | c.3383A>T (p.Gln1128Leu) c.3884A>T (p.Gln1295Leu) c.*2496T>A (n.*2496T>A) c.2019A>T c.4590T>A (n.4590T>A) c.3941A>T (p.Gln1314Leu) c.1383A>T c.1178-59A>T n.237-59A>T c.4019A>T (p.Gln1340Leu) c.3965A>T (p.Gln1322Leu) c.3984-59A>T (n.3984-59A>T) c.3611A>T (p.Gln1204Leu) c.2300A>T (p.Gln767Leu) | gnomAD v4 |
1 | g.11788185G>A | CA416361718 | C1orf167,MTHFR | c.3384G>A (p.Gln1128=) c.3885G>A (p.Gln1295=) c.*2495C>T (n.*2495C>T) c.2020G>A c.4589C>T (n.4589C>T) c.3942G>A (p.Gln1314=) c.1384G>A c.1178-58G>A n.237-58G>A c.4020G>A (p.Gln1340=) c.3966G>A (p.Gln1322=) c.3984-58G>A (n.3984-58G>A) c.3612G>A (p.Gln1204=) c.2301G>A (p.Gln767=) | |
1 | g.11788185G>C | CA338470109 | C1orf167,MTHFR | c.3384G>C (p.Gln1128His) c.3885G>C (p.Gln1295His) c.*2495C>G (n.*2495C>G) c.2020G>C c.4589C>G (n.4589C>G) c.3942G>C (p.Gln1314His) c.1384G>C c.1178-58G>C n.237-58G>C c.4020G>C (p.Gln1340His) c.3966G>C (p.Gln1322His) c.3984-58G>C (n.3984-58G>C) c.3612G>C (p.Gln1204His) c.2301G>C (p.Gln767His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788185G= | CA1153786937 | C1orf167,MTHFR | c.3384G= (p.Gln1128=) c.3885G= (p.Gln1295=) c.*2495C= (n.*2495C=) c.2020G= c.4589C= (n.4589C=) c.3942G= (p.Gln1314=) c.1384G= c.1178-58G= n.237-58G= c.4020G= (p.Gln1340=) c.3966G= (p.Gln1322=) c.3984-58G= (n.3984-58G=) c.3612G= (p.Gln1204=) c.2301G= (p.Gln767=) | |
1 | g.11788185G>T | CA338470110 | C1orf167,MTHFR | c.3384G>T (p.Gln1128His) c.3885G>T (p.Gln1295His) c.*2495C>A (n.*2495C>A) c.2020G>T c.4589C>A (n.4589C>A) c.3942G>T (p.Gln1314His) c.1384G>T c.1178-58G>T n.237-58G>T c.4020G>T (p.Gln1340His) c.3966G>T (p.Gln1322His) c.3984-58G>T (n.3984-58G>T) c.3612G>T (p.Gln1204His) c.2301G>T (p.Gln767His) | gnomAD v4 |
1 | g.11788186G>A | CA338470111 | C1orf167,MTHFR | c.3385G>A (p.Ala1129Thr) c.3886G>A (p.Ala1296Thr) c.*2494C>T (n.*2494C>T) c.2021G>A c.4588C>T (n.4588C>T) c.3943G>A (p.Ala1315Thr) c.1385G>A c.1178-57G>A n.237-57G>A c.4021G>A (p.Ala1341Thr) c.3967G>A (p.Ala1323Thr) c.3984-57G>A (n.3984-57G>A) c.3613G>A (p.Ala1205Thr) c.2302G>A (p.Ala768Thr) | |
1 | g.11788186G>C | CA338470112 | C1orf167,MTHFR | c.3385G>C (p.Ala1129Pro) c.3886G>C (p.Ala1296Pro) c.*2494C>G (n.*2494C>G) c.2021G>C c.4588C>G (n.4588C>G) c.3943G>C (p.Ala1315Pro) c.1385G>C c.1178-57G>C n.237-57G>C c.4021G>C (p.Ala1341Pro) c.3967G>C (p.Ala1323Pro) c.3984-57G>C (n.3984-57G>C) c.3613G>C (p.Ala1205Pro) c.2302G>C (p.Ala768Pro) | |
1 | g.11788186G= | CA1153786941 | C1orf167,MTHFR | c.3385G= (p.Ala1129=) c.3886G= (p.Ala1296=) c.*2494C= (n.*2494C=) c.2021G= c.4588C= (n.4588C=) c.3943G= (p.Ala1315=) c.1385G= c.1178-57G= n.237-57G= c.4021G= (p.Ala1341=) c.3967G= (p.Ala1323=) c.3984-57G= (n.3984-57G=) c.3613G= (p.Ala1205=) c.2302G= (p.Ala768=) | |
1 | g.11788186G>T | CA338470113 | C1orf167,MTHFR | c.3385G>T (p.Ala1129Ser) c.3886G>T (p.Ala1296Ser) c.*2494C>A (n.*2494C>A) c.2021G>T c.4588C>A (n.4588C>A) c.3943G>T (p.Ala1315Ser) c.1385G>T c.1178-57G>T n.237-57G>T c.4021G>T (p.Ala1341Ser) c.3967G>T (p.Ala1323Ser) c.3984-57G>T (n.3984-57G>T) c.3613G>T (p.Ala1205Ser) c.2302G>T (p.Ala768Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788187C>A | CA338470116 | C1orf167,MTHFR | c.3386C>A (p.Ala1129Asp) c.3887C>A (p.Ala1296Asp) c.*2493G>T (n.*2493G>T) c.2022C>A c.4587G>T (n.4587G>T) c.3944C>A (p.Ala1315Asp) c.1386C>A c.1178-56C>A n.237-56C>A c.4022C>A (p.Ala1341Asp) c.3968C>A (p.Ala1323Asp) c.3984-56C>A (n.3984-56C>A) c.3614C>A (p.Ala1205Asp) c.2303C>A (p.Ala768Asp) | gnomAD v4 |
1 | g.11788187C= | CA1153786948 | C1orf167,MTHFR | c.3386C= (p.Ala1129=) c.3887C= (p.Ala1296=) c.*2493G= (n.*2493G=) c.2022C= c.4587G= (n.4587G=) c.3944C= (p.Ala1315=) c.1386C= c.1178-56C= n.237-56C= c.4022C= (p.Ala1341=) c.3968C= (p.Ala1323=) c.3984-56C= (n.3984-56C=) c.3614C= (p.Ala1205=) c.2303C= (p.Ala768=) | |
1 | g.11788187C>G | CA338470115 | C1orf167,MTHFR | c.3386C>G (p.Ala1129Gly) c.3887C>G (p.Ala1296Gly) c.*2493G>C (n.*2493G>C) c.2022C>G c.4587G>C (n.4587G>C) c.3944C>G (p.Ala1315Gly) c.1386C>G c.1178-56C>G n.237-56C>G c.4022C>G (p.Ala1341Gly) c.3968C>G (p.Ala1323Gly) c.3984-56C>G (n.3984-56C>G) c.3614C>G (p.Ala1205Gly) c.2303C>G (p.Ala768Gly) | |
1 | g.11788187C>T | CA338470114 | C1orf167,MTHFR | c.3386C>T (p.Ala1129Val) c.3887C>T (p.Ala1296Val) c.*2493G>A (n.*2493G>A) c.2022C>T c.4587G>A (n.4587G>A) c.3944C>T (p.Ala1315Val) c.1386C>T c.1178-56C>T n.237-56C>T c.4022C>T (p.Ala1341Val) c.3968C>T (p.Ala1323Val) c.3984-56C>T (n.3984-56C>T) c.3614C>T (p.Ala1205Val) c.2303C>T (p.Ala768Val) | dbSNP |
1 | g.11788188C>A | CA416361719 | C1orf167,MTHFR | c.3387C>A (p.Ala1129=) c.3888C>A (p.Ala1296=) c.*2492G>T (n.*2492G>T) c.2023C>A c.4586G>T (n.4586G>T) c.3945C>A (p.Ala1315=) c.1387C>A c.1178-55C>A n.237-55C>A c.4023C>A (p.Ala1341=) c.3969C>A (p.Ala1323=) c.3984-55C>A (n.3984-55C>A) c.3615C>A (p.Ala1205=) c.2304C>A (p.Ala768=) | |
1 | g.11788188C>G | CA416361720 | C1orf167,MTHFR | c.3387C>G (p.Ala1129=) c.3888C>G (p.Ala1296=) c.*2492G>C (n.*2492G>C) c.2023C>G c.4586G>C (n.4586G>C) c.3945C>G (p.Ala1315=) c.1387C>G c.1178-55C>G n.237-55C>G c.4023C>G (p.Ala1341=) c.3969C>G (p.Ala1323=) c.3984-55C>G (n.3984-55C>G) c.3615C>G (p.Ala1205=) c.2304C>G (p.Ala768=) | |
1 | g.11788188C>T | CA416361721 | C1orf167,MTHFR | c.3387C>T (p.Ala1129=) c.3888C>T (p.Ala1296=) c.*2492G>A (n.*2492G>A) c.2023C>T c.4586G>A (n.4586G>A) c.3945C>T (p.Ala1315=) c.1387C>T c.1178-55C>T n.237-55C>T c.4023C>T (p.Ala1341=) c.3969C>T (p.Ala1323=) c.3984-55C>T (n.3984-55C>T) c.3615C>T (p.Ala1205=) c.2304C>T (p.Ala768=) | gnomAD v4 |
1 | g.11788189C>A | CA338470117 | C1orf167,MTHFR | c.3388C>A (p.His1130Asn) c.3889C>A (p.His1297Asn) c.*2491G>T (n.*2491G>T) c.2024C>A c.4585G>T (n.4585G>T) c.3946C>A (p.His1316Asn) c.1388C>A c.1178-54C>A n.237-54C>A c.4024C>A (p.His1342Asn) c.3970C>A (p.His1324Asn) c.3984-54C>A (n.3984-54C>A) c.3616C>A (p.His1206Asn) c.2305C>A (p.His769Asn) | |
1 | g.11788189C>G | CA338470118 | C1orf167,MTHFR | c.3388C>G (p.His1130Asp) c.3889C>G (p.His1297Asp) c.*2491G>C (n.*2491G>C) c.2024C>G c.4585G>C (n.4585G>C) c.3946C>G (p.His1316Asp) c.1388C>G c.1178-54C>G n.237-54C>G c.4024C>G (p.His1342Asp) c.3970C>G (p.His1324Asp) c.3984-54C>G (n.3984-54C>G) c.3616C>G (p.His1206Asp) c.2305C>G (p.His769Asp) | |
1 | g.11788189C>T | CA338470119 | C1orf167,MTHFR | c.3388C>T (p.His1130Tyr) c.3889C>T (p.His1297Tyr) c.*2491G>A (n.*2491G>A) c.2024C>T c.4585G>A (n.4585G>A) c.3946C>T (p.His1316Tyr) c.1388C>T c.1178-54C>T n.237-54C>T c.4024C>T (p.His1342Tyr) c.3970C>T (p.His1324Tyr) c.3984-54C>T (n.3984-54C>T) c.3616C>T (p.His1206Tyr) c.2305C>T (p.His769Tyr) | |
1 | g.11788190A= | CA1149035707 | C1orf167,MTHFR | c.3389A= (p.His1130=) c.3890A= (p.His1297=) c.*2490T= (n.*2490T=) c.2025A= c.4584T= (n.4584T=) c.3947A= (p.His1316=) c.1389A= c.1178-53A= n.237-53A= c.4025A= (p.His1342=) c.3971A= (p.His1324=) c.3984-53A= (n.3984-53A=) c.3617A= (p.His1206=) c.2306A= (p.His769=) | |
1 | g.11788190A>C | CA338470120 | C1orf167,MTHFR | c.3389A>C (p.His1130Pro) c.3890A>C (p.His1297Pro) c.*2490T>G (n.*2490T>G) c.2025A>C c.4584T>G (n.4584T>G) c.3947A>C (p.His1316Pro) c.1389A>C c.1178-53A>C n.237-53A>C c.4025A>C (p.His1342Pro) c.3971A>C (p.His1324Pro) c.3984-53A>C (n.3984-53A>C) c.3617A>C (p.His1206Pro) c.2306A>C (p.His769Pro) | |
1 | g.11788190A>G | CA338470121 | C1orf167,MTHFR | c.3389A>G (p.His1130Arg) c.3890A>G (p.His1297Arg) c.*2490T>C (n.*2490T>C) c.2025A>G c.4584T>C (n.4584T>C) c.3947A>G (p.His1316Arg) c.1389A>G c.1178-53A>G n.237-53A>G c.4025A>G (p.His1342Arg) c.3971A>G (p.His1324Arg) c.3984-53A>G (n.3984-53A>G) c.3617A>G (p.His1206Arg) c.2306A>G (p.His769Arg) | gnomAD v4 |
1 | g.11788190A>T | CA595077 | C1orf167,MTHFR | c.3389A>T (p.His1130Leu) c.3890A>T (p.His1297Leu) c.*2490T>A (n.*2490T>A) c.2025A>T c.4584T>A (n.4584T>A) c.3947A>T (p.His1316Leu) c.1389A>T c.1178-53A>T n.237-53A>T c.4025A>T (p.His1342Leu) c.3971A>T (p.His1324Leu) c.3984-53A>T (n.3984-53A>T) c.3617A>T (p.His1206Leu) c.2306A>T (p.His769Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11788191del | CA2643295633 | C1orf167,MTHFR | c.3390del (p.His1130GlnfsTer9) c.3891del (p.His1297GlnfsTer9) c.*2489del (n.*2489del) c.2026del c.4583del (n.4583del) c.3948del (p.His1316GlnfsTer9) c.1390del c.1178-52del n.237-52del c.4026del (p.His1342GlnfsTer9) c.3972del (p.His1324GlnfsTer9) c.3984-52del (n.3984-52del) c.3618del (p.His1206GlnfsTer9) c.2307del (p.His769GlnfsTer9) | gnomAD v4 |
1 | g.11788191T>A | CA338470122 | C1orf167,MTHFR | c.3390T>A (p.His1130Gln) c.3891T>A (p.His1297Gln) c.*2489A>T (n.*2489A>T) c.2026T>A c.4583A>T (n.4583A>T) c.3948T>A (p.His1316Gln) c.1390T>A c.1178-52T>A n.237-52T>A c.4026T>A (p.His1342Gln) c.3972T>A (p.His1324Gln) c.3984-52T>A (n.3984-52T>A) c.3618T>A (p.His1206Gln) c.2307T>A (p.His769Gln) | |
1 | g.11788191T>C | CA416361722 | C1orf167,MTHFR | c.3390T>C (p.His1130=) c.3891T>C (p.His1297=) c.*2489A>G (n.*2489A>G) c.2026T>C c.4583A>G (n.4583A>G) c.3948T>C (p.His1316=) c.1390T>C c.1178-52T>C n.237-52T>C c.4026T>C (p.His1342=) c.3972T>C (p.His1324=) c.3984-52T>C (n.3984-52T>C) c.3618T>C (p.His1206=) c.2307T>C (p.His769=) | dbSNP gnomAD v4 |
1 | g.11788191T>G | CA338470123 | C1orf167,MTHFR | c.3390T>G (p.His1130Gln) c.3891T>G (p.His1297Gln) c.*2489A>C (n.*2489A>C) c.2026T>G c.4583A>C (n.4583A>C) c.3948T>G (p.His1316Gln) c.1390T>G c.1178-52T>G n.237-52T>G c.4026T>G (p.His1342Gln) c.3972T>G (p.His1324Gln) c.3984-52T>G (n.3984-52T>G) c.3618T>G (p.His1206Gln) c.2307T>G (p.His769Gln) | |
1 | g.11788191T= | CA1153786959 | C1orf167,MTHFR | c.3390T= (p.His1130=) c.3891T= (p.His1297=) c.*2489A= (n.*2489A=) c.2026T= c.4583A= (n.4583A=) c.3948T= (p.His1316=) c.1390T= c.1178-52T= n.237-52T= c.4026T= (p.His1342=) c.3972T= (p.His1324=) c.3984-52T= (n.3984-52T=) c.3618T= (p.His1206=) c.2307T= (p.His769=) | |
1 | g.11788192G>A | CA338470124 | C1orf167,MTHFR | c.3391G>A (p.Gly1131Ser) c.3892G>A (p.Gly1298Ser) c.*2488C>T (n.*2488C>T) c.2027G>A c.4582C>T (n.4582C>T) c.3949G>A (p.Gly1317Ser) c.1391G>A c.1178-51G>A n.237-51G>A c.4027G>A (p.Gly1343Ser) c.3973G>A (p.Gly1325Ser) c.3984-51G>A (n.3984-51G>A) c.3619G>A (p.Gly1207Ser) c.2308G>A (p.Gly770Ser) | dbSNP |
1 | g.11788192G>C | CA338470125 | C1orf167,MTHFR | c.3391G>C (p.Gly1131Arg) c.3892G>C (p.Gly1298Arg) c.*2488C>G (n.*2488C>G) c.2027G>C c.4582C>G (n.4582C>G) c.3949G>C (p.Gly1317Arg) c.1391G>C c.1178-51G>C n.237-51G>C c.4027G>C (p.Gly1343Arg) c.3973G>C (p.Gly1325Arg) c.3984-51G>C (n.3984-51G>C) c.3619G>C (p.Gly1207Arg) c.2308G>C (p.Gly770Arg) | |
1 | g.11788192G= | CA1153786961 | C1orf167,MTHFR | c.3391G= (p.Gly1131=) c.3892G= (p.Gly1298=) c.*2488C= (n.*2488C=) c.2027G= c.4582C= (n.4582C=) c.3949G= (p.Gly1317=) c.1391G= c.1178-51G= n.237-51G= c.4027G= (p.Gly1343=) c.3973G= (p.Gly1325=) c.3984-51G= (n.3984-51G=) c.3619G= (p.Gly1207=) c.2308G= (p.Gly770=) | |
1 | g.11788192G>T | CA338470126 | C1orf167,MTHFR | c.3391G>T (p.Gly1131Cys) c.3892G>T (p.Gly1298Cys) c.*2488C>A (n.*2488C>A) c.2027G>T c.4582C>A (n.4582C>A) c.3949G>T (p.Gly1317Cys) c.1391G>T c.1178-51G>T n.237-51G>T c.4027G>T (p.Gly1343Cys) c.3973G>T (p.Gly1325Cys) c.3984-51G>T (n.3984-51G>T) c.3619G>T (p.Gly1207Cys) c.2308G>T (p.Gly770Cys) | |
1 | g.11788193G>A | CA338470127 | C1orf167,MTHFR | c.3392G>A (p.Gly1131Asp) c.3893G>A (p.Gly1298Asp) c.*2487C>T (n.*2487C>T) c.2028G>A c.4581C>T (n.4581C>T) c.3950G>A (p.Gly1317Asp) c.1392G>A c.1178-50G>A n.237-50G>A c.4028G>A (p.Gly1343Asp) c.3974G>A (p.Gly1325Asp) c.3984-50G>A (n.3984-50G>A) c.3620G>A (p.Gly1207Asp) c.2309G>A (p.Gly770Asp) | gnomAD v4 |
1 | g.11788193G>C | CA338470128 | C1orf167,MTHFR | c.3392G>C (p.Gly1131Ala) c.3893G>C (p.Gly1298Ala) c.*2487C>G (n.*2487C>G) c.2028G>C c.4581C>G (n.4581C>G) c.3950G>C (p.Gly1317Ala) c.1392G>C c.1178-50G>C n.237-50G>C c.4028G>C (p.Gly1343Ala) c.3974G>C (p.Gly1325Ala) c.3984-50G>C (n.3984-50G>C) c.3620G>C (p.Gly1207Ala) c.2309G>C (p.Gly770Ala) | |
1 | g.11788193G>T | CA338470129 | C1orf167,MTHFR | c.3392G>T (p.Gly1131Val) c.3893G>T (p.Gly1298Val) c.*2487C>A (n.*2487C>A) c.2028G>T c.4581C>A (n.4581C>A) c.3950G>T (p.Gly1317Val) c.1392G>T c.1178-50G>T n.237-50G>T c.4028G>T (p.Gly1343Val) c.3974G>T (p.Gly1325Val) c.3984-50G>T (n.3984-50G>T) c.3620G>T (p.Gly1207Val) c.2309G>T (p.Gly770Val) | |
1 | g.11788194C>A | CA416361723 | C1orf167,MTHFR | c.3393C>A (p.Gly1131=) c.3894C>A (p.Gly1298=) c.*2486G>T (n.*2486G>T) c.2029C>A c.4580G>T (n.4580G>T) c.3951C>A (p.Gly1317=) c.1393C>A c.1178-49C>A n.237-49C>A c.4029C>A (p.Gly1343=) c.3975C>A (p.Gly1325=) c.3984-49C>A (n.3984-49C>A) c.3621C>A (p.Gly1207=) c.2310C>A (p.Gly770=) | gnomAD v4 |
1 | g.11788194C>G | CA416361724 | C1orf167,MTHFR | c.3393C>G (p.Gly1131=) c.3894C>G (p.Gly1298=) c.*2486G>C (n.*2486G>C) c.2029C>G c.4580G>C (n.4580G>C) c.3951C>G (p.Gly1317=) c.1393C>G c.1178-49C>G n.237-49C>G c.4029C>G (p.Gly1343=) c.3975C>G (p.Gly1325=) c.3984-49C>G (n.3984-49C>G) c.3621C>G (p.Gly1207=) c.2310C>G (p.Gly770=) | |
1 | g.11788194C>T | CA416361725 | C1orf167,MTHFR | c.3393C>T (p.Gly1131=) c.3894C>T (p.Gly1298=) c.*2486G>A (n.*2486G>A) c.2029C>T c.4580G>A (n.4580G>A) c.3951C>T (p.Gly1317=) c.1393C>T c.1178-49C>T n.237-49C>T c.4029C>T (p.Gly1343=) c.3975C>T (p.Gly1325=) c.3984-49C>T (n.3984-49C>T) c.3621C>T (p.Gly1207=) c.2310C>T (p.Gly770=) | gnomAD v4 |
1 | g.11788195T>A | CA338470131 | C1orf167,MTHFR | c.3394T>A (p.Ser1132Thr) c.3895T>A (p.Ser1299Thr) c.*2485A>T (n.*2485A>T) c.2030T>A c.4579A>T (n.4579A>T) c.3952T>A (p.Ser1318Thr) c.1394T>A c.1178-48T>A n.237-48T>A c.4030T>A (p.Ser1344Thr) c.3976T>A (p.Ser1326Thr) c.3984-48T>A (n.3984-48T>A) c.3622T>A (p.Ser1208Thr) c.2311T>A (p.Ser771Thr) | |
1 | g.11788195T>C | CA338470132 | C1orf167,MTHFR | c.3394T>C (p.Ser1132Pro) c.3895T>C (p.Ser1299Pro) c.*2485A>G (n.*2485A>G) c.2030T>C c.4579A>G (n.4579A>G) c.3952T>C (p.Ser1318Pro) c.1394T>C c.1178-48T>C n.237-48T>C c.4030T>C (p.Ser1344Pro) c.3976T>C (p.Ser1326Pro) c.3984-48T>C (n.3984-48T>C) c.3622T>C (p.Ser1208Pro) c.2311T>C (p.Ser771Pro) | |
1 | g.11788195T>G | CA338470130 | C1orf167,MTHFR | c.3394T>G (p.Ser1132Ala) c.3895T>G (p.Ser1299Ala) c.*2485A>C (n.*2485A>C) c.2030T>G c.4579A>C (n.4579A>C) c.3952T>G (p.Ser1318Ala) c.1394T>G c.1178-48T>G n.237-48T>G c.4030T>G (p.Ser1344Ala) c.3976T>G (p.Ser1326Ala) c.3984-48T>G (n.3984-48T>G) c.3622T>G (p.Ser1208Ala) c.2311T>G (p.Ser771Ala) | |
1 | g.11788196C>A | CA338470133 | C1orf167,MTHFR | c.3395C>A (p.Ser1132Tyr) c.3896C>A (p.Ser1299Tyr) c.*2484G>T (n.*2484G>T) c.2031C>A c.4578G>T (n.4578G>T) c.3953C>A (p.Ser1318Tyr) c.1395C>A c.1178-47C>A n.237-47C>A c.4031C>A (p.Ser1344Tyr) c.3977C>A (p.Ser1326Tyr) c.3984-47C>A (n.3984-47C>A) c.3623C>A (p.Ser1208Tyr) c.2312C>A (p.Ser771Tyr) | gnomAD v4 |
1 | g.11788196C>G | CA338470134 | C1orf167,MTHFR | c.3395C>G (p.Ser1132Cys) c.3896C>G (p.Ser1299Cys) c.*2484G>C (n.*2484G>C) c.2031C>G c.4578G>C (n.4578G>C) c.3953C>G (p.Ser1318Cys) c.1395C>G c.1178-47C>G n.237-47C>G c.4031C>G (p.Ser1344Cys) c.3977C>G (p.Ser1326Cys) c.3984-47C>G (n.3984-47C>G) c.3623C>G (p.Ser1208Cys) c.2312C>G (p.Ser771Cys) | gnomAD v4 |
1 | g.11788196C>T | CA338470135 | C1orf167,MTHFR | c.3395C>T (p.Ser1132Phe) c.3896C>T (p.Ser1299Phe) c.*2484G>A (n.*2484G>A) c.2031C>T c.4578G>A (n.4578G>A) c.3953C>T (p.Ser1318Phe) c.1395C>T c.1178-47C>T n.237-47C>T c.4031C>T (p.Ser1344Phe) c.3977C>T (p.Ser1326Phe) c.3984-47C>T (n.3984-47C>T) c.3623C>T (p.Ser1208Phe) c.2312C>T (p.Ser771Phe) | gnomAD v4 |
1 | g.11788196_11788197insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA | CA2572365536 | C1orf167,MTHFR | c.3395_3396insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1133PhefsTer6) c.3896_3897insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1300PhefsTer6) c.*2483_*2484insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC (n.*2483_*2484insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC) c.2031_2032insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA c.4577_4578insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC (n.4577_4578insTTCAGAGTTGCTTGTCAGAGGCTGACTGAGAAC) c.3953_3954insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1319PhefsTer6) c.1395_1396insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA c.1178-47_1178-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA n.237-47_237-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA c.4031_4032insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1345PhefsTer6) c.3977_3978insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1327PhefsTer6) c.3984-47_3984-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (n.3984-47_3984-46insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA) c.3623_3624insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser1209PhefsTer6) c.2312_2313insGTTCTCAGTCAGCCTCTGACAAGCAACTCTGAA (p.Ser772PhefsTer6) | |
1 | g.11788197T>A | CA416361726 | C1orf167,MTHFR | c.3396T>A (p.Ser1132=) c.3897T>A (p.Ser1299=) c.*2483A>T (n.*2483A>T) c.2032T>A c.4577A>T (n.4577A>T) c.3954T>A (p.Ser1318=) c.1396T>A c.1178-46T>A n.237-46T>A c.4032T>A (p.Ser1344=) c.3978T>A (p.Ser1326=) c.3984-46T>A (n.3984-46T>A) c.3624T>A (p.Ser1208=) c.2313T>A (p.Ser771=) | |
1 | g.11788197T>C | CA416361727 | C1orf167,MTHFR | c.3396T>C (p.Ser1132=) c.3897T>C (p.Ser1299=) c.*2483A>G (n.*2483A>G) c.2032T>C c.4577A>G (n.4577A>G) c.3954T>C (p.Ser1318=) c.1396T>C c.1178-46T>C n.237-46T>C c.4032T>C (p.Ser1344=) c.3978T>C (p.Ser1326=) c.3984-46T>C (n.3984-46T>C) c.3624T>C (p.Ser1208=) c.2313T>C (p.Ser771=) | |
1 | g.11788197T>G | CA416361728 | C1orf167,MTHFR | c.3396T>G (p.Ser1132=) c.3897T>G (p.Ser1299=) c.*2483A>C (n.*2483A>C) c.2032T>G c.4577A>C (n.4577A>C) c.3954T>G (p.Ser1318=) c.1396T>G c.1178-46T>G n.237-46T>G c.4032T>G (p.Ser1344=) c.3978T>G (p.Ser1326=) c.3984-46T>G (n.3984-46T>G) c.3624T>G (p.Ser1208=) c.2313T>G (p.Ser771=) | |
1 | g.11788198G>A | CA17996213 | C1orf167,MTHFR | c.3397G>A (p.Ala1133Thr) c.3898G>A (p.Ala1300Thr) c.*2482C>T (n.*2482C>T) c.2033G>A c.4576C>T (n.4576C>T) c.3955G>A (p.Ala1319Thr) c.1397G>A c.1178-45G>A n.237-45G>A c.4033G>A (p.Ala1345Thr) c.3979G>A (p.Ala1327Thr) c.3984-45G>A (n.3984-45G>A) c.3625G>A (p.Ala1209Thr) c.2314G>A (p.Ala772Thr) | dbSNP gnomAD v4 |
1 | g.11788198G>C | CA338470136 | C1orf167,MTHFR | c.3397G>C (p.Ala1133Pro) c.3898G>C (p.Ala1300Pro) c.*2482C>G (n.*2482C>G) c.2033G>C c.4576C>G (n.4576C>G) c.3955G>C (p.Ala1319Pro) c.1397G>C c.1178-45G>C n.237-45G>C c.4033G>C (p.Ala1345Pro) c.3979G>C (p.Ala1327Pro) c.3984-45G>C (n.3984-45G>C) c.3625G>C (p.Ala1209Pro) c.2314G>C (p.Ala772Pro) | |
1 | g.11788198G= | CA1153786966 | C1orf167,MTHFR | c.3397G= (p.Ala1133=) c.3898G= (p.Ala1300=) c.*2482C= (n.*2482C=) c.2033G= c.4576C= (n.4576C=) c.3955G= (p.Ala1319=) c.1397G= c.1178-45G= n.237-45G= c.4033G= (p.Ala1345=) c.3979G= (p.Ala1327=) c.3984-45G= (n.3984-45G=) c.3625G= (p.Ala1209=) c.2314G= (p.Ala772=) | |
1 | g.11788198G>T | CA338470137 | C1orf167,MTHFR | c.3397G>T (p.Ala1133Ser) c.3898G>T (p.Ala1300Ser) c.*2482C>A (n.*2482C>A) c.2033G>T c.4576C>A (n.4576C>A) c.3955G>T (p.Ala1319Ser) c.1397G>T c.1178-45G>T n.237-45G>T c.4033G>T (p.Ala1345Ser) c.3979G>T (p.Ala1327Ser) c.3984-45G>T (n.3984-45G>T) c.3625G>T (p.Ala1209Ser) c.2314G>T (p.Ala772Ser) | gnomAD v4 |
1 | g.11788199C>A | CA338470138 | C1orf167,MTHFR | c.3398C>A (p.Ala1133Asp) c.3899C>A (p.Ala1300Asp) c.*2481G>T (n.*2481G>T) c.2034C>A c.4575G>T (n.4575G>T) c.3956C>A (p.Ala1319Asp) c.1398C>A c.1178-44C>A n.237-44C>A c.4034C>A (p.Ala1345Asp) c.3980C>A (p.Ala1327Asp) c.3984-44C>A (n.3984-44C>A) c.3626C>A (p.Ala1209Asp) c.2315C>A (p.Ala772Asp) | |
1 | g.11788199C= | CA1153786972 | C1orf167,MTHFR | c.3398C= (p.Ala1133=) c.3899C= (p.Ala1300=) c.*2481G= (n.*2481G=) c.2034C= c.4575G= (n.4575G=) c.3956C= (p.Ala1319=) c.1398C= c.1178-44C= n.237-44C= c.4034C= (p.Ala1345=) c.3980C= (p.Ala1327=) c.3984-44C= (n.3984-44C=) c.3626C= (p.Ala1209=) c.2315C= (p.Ala772=) | |
1 | g.11788199C>G | CA338470139 | C1orf167,MTHFR | c.3398C>G (p.Ala1133Gly) c.3899C>G (p.Ala1300Gly) c.*2481G>C (n.*2481G>C) c.2034C>G c.4575G>C (n.4575G>C) c.3956C>G (p.Ala1319Gly) c.1398C>G c.1178-44C>G n.237-44C>G c.4034C>G (p.Ala1345Gly) c.3980C>G (p.Ala1327Gly) c.3984-44C>G (n.3984-44C>G) c.3626C>G (p.Ala1209Gly) c.2315C>G (p.Ala772Gly) | |
1 | g.11788199C>T | CA338470140 | C1orf167,MTHFR | c.3398C>T (p.Ala1133Val) c.3899C>T (p.Ala1300Val) c.*2481G>A (n.*2481G>A) c.2034C>T c.4575G>A (n.4575G>A) c.3956C>T (p.Ala1319Val) c.1398C>T c.1178-44C>T n.237-44C>T c.4034C>T (p.Ala1345Val) c.3980C>T (p.Ala1327Val) c.3984-44C>T (n.3984-44C>T) c.3626C>T (p.Ala1209Val) c.2315C>T (p.Ala772Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788201del | CA2643295634 | C1orf167,MTHFR | c.3400del (p.Leu1134SerfsTer5) c.3901del (p.Leu1301SerfsTer5) c.*2481del (n.*2481del) c.2036del c.4575del (n.4575del) c.3958del (p.Leu1320SerfsTer5) c.1400del c.1178-42del n.237-42del c.4036del (p.Leu1346SerfsTer5) c.3982del (p.Leu1328SerfsTer5) c.3984-42del (n.3984-42del) c.3628del (p.Leu1210SerfsTer5) c.2317del (p.Leu773SerfsTer5) | gnomAD v4 |
1 | g.11788199_11788202delinsCCCT | CA1153786971 | C1orf167,MTHFR | c.3398_3401delinsCCCT (p.Ala1133=) c.3899_3902delinsCCCT (p.Ala1300=) c.*2478_*2481delinsAGGG (n.*2478_*2481delinsAGGG) c.2034_2037delinsCCCT c.4572_4575delinsAGGG (n.4572_4575delinsAGGG) c.3956_3959delinsCCCT (p.Ala1319=) c.1398_1401delinsCCCT c.1178-44_1178-41delinsCCCT n.237-44_237-41delinsCCCT c.4034_4037delinsCCCT (p.Ala1345=) c.3980_3983delinsCCCT (p.Ala1327=) c.3984-44_3984-41delinsCCCT (n.3984-44_3984-41delinsCCCT) c.3626_3629delinsCCCT (p.Ala1209=) c.2315_2318delinsCCCT (p.Ala772=) | |
1 | g.11788200C>A | CA416361729 | C1orf167,MTHFR | c.3399C>A (p.Ala1133=) c.3900C>A (p.Ala1300=) c.*2480G>T (n.*2480G>T) c.2035C>A c.4574G>T (n.4574G>T) c.3957C>A (p.Ala1319=) c.1399C>A c.1178-43C>A n.237-43C>A c.4035C>A (p.Ala1345=) c.3981C>A (p.Ala1327=) c.3984-43C>A (n.3984-43C>A) c.3627C>A (p.Ala1209=) c.2316C>A (p.Ala772=) | |
1 | g.11788200C>G | CA416361730 | C1orf167,MTHFR | c.3399C>G (p.Ala1133=) c.3900C>G (p.Ala1300=) c.*2480G>C (n.*2480G>C) c.2035C>G c.4574G>C (n.4574G>C) c.3957C>G (p.Ala1319=) c.1399C>G c.1178-43C>G n.237-43C>G c.4035C>G (p.Ala1345=) c.3981C>G (p.Ala1327=) c.3984-43C>G (n.3984-43C>G) c.3627C>G (p.Ala1209=) c.2316C>G (p.Ala772=) | |
1 | g.11788200C>T | CA416361731 | C1orf167,MTHFR | c.3399C>T (p.Ala1133=) c.3900C>T (p.Ala1300=) c.*2480G>A (n.*2480G>A) c.2035C>T c.4574G>A (n.4574G>A) c.3957C>T (p.Ala1319=) c.1399C>T c.1178-43C>T n.237-43C>T c.4035C>T (p.Ala1345=) c.3981C>T (p.Ala1327=) c.3984-43C>T (n.3984-43C>T) c.3627C>T (p.Ala1209=) c.2316C>T (p.Ala772=) | |
1 | g.11788203_11788205del | CA886036603 | C1orf167,MTHFR | c.3402_3404del (p.Leu1135del) c.3903_3905del (p.Leu1302del) c.*2478_*2480del (n.*2478_*2480del) c.2038_2040del c.4572_4574del (n.4572_4574del) c.3960_3962del (p.Leu1321del) c.1402_1404del c.1178-40_1178-38del n.237-40_237-38del c.4038_4040del (p.Leu1347del) c.3984_3986del (p.Leu1329del) c.3984-40_3984-38del (n.3984-40_3984-38del) c.3630_3632del (p.Leu1211del) c.2319_2321del (p.Leu774del) | dbSNP |
1 | g.11788201C>A | CA338470141 | C1orf167,MTHFR | c.3400C>A (p.Leu1134Ile) c.3901C>A (p.Leu1301Ile) c.*2479G>T (n.*2479G>T) c.2036C>A c.4573G>T (n.4573G>T) c.3958C>A (p.Leu1320Ile) c.1400C>A c.1178-42C>A n.237-42C>A c.4036C>A (p.Leu1346Ile) c.3982C>A (p.Leu1328Ile) c.3984-42C>A (n.3984-42C>A) c.3628C>A (p.Leu1210Ile) c.2317C>A (p.Leu773Ile) | gnomAD v4 |
1 | g.11788201C>G | CA338470142 | C1orf167,MTHFR | c.3400C>G (p.Leu1134Val) c.3901C>G (p.Leu1301Val) c.*2479G>C (n.*2479G>C) c.2036C>G c.4573G>C (n.4573G>C) c.3958C>G (p.Leu1320Val) c.1400C>G c.1178-42C>G n.237-42C>G c.4036C>G (p.Leu1346Val) c.3982C>G (p.Leu1328Val) c.3984-42C>G (n.3984-42C>G) c.3628C>G (p.Leu1210Val) c.2317C>G (p.Leu773Val) | |
1 | g.11788201C>T | CA338470143 | C1orf167,MTHFR | c.3400C>T (p.Leu1134Phe) c.3901C>T (p.Leu1301Phe) c.*2479G>A (n.*2479G>A) c.2036C>T c.4573G>A (n.4573G>A) c.3958C>T (p.Leu1320Phe) c.1400C>T c.1178-42C>T n.237-42C>T c.4036C>T (p.Leu1346Phe) c.3982C>T (p.Leu1328Phe) c.3984-42C>T (n.3984-42C>T) c.3628C>T (p.Leu1210Phe) c.2317C>T (p.Leu773Phe) | COSMIC COSMIC |
1 | g.11788202T>A | CA338470145 | C1orf167,MTHFR | c.3401T>A (p.Leu1134His) c.3902T>A (p.Leu1301His) c.*2478A>T (n.*2478A>T) c.2037T>A c.4572A>T (n.4572A>T) c.3959T>A (p.Leu1320His) c.1401T>A c.1178-41T>A n.237-41T>A c.4037T>A (p.Leu1346His) c.3983T>A (p.Leu1328His) c.3984-41T>A (n.3984-41T>A) c.3629T>A (p.Leu1210His) c.2318T>A (p.Leu773His) | |
1 | g.11788202T>C | CA338470144 | C1orf167,MTHFR | c.3401T>C (p.Leu1134Pro) c.3902T>C (p.Leu1301Pro) c.*2478A>G (n.*2478A>G) c.2037T>C c.4572A>G (n.4572A>G) c.3959T>C (p.Leu1320Pro) c.1401T>C c.1178-41T>C n.237-41T>C c.4037T>C (p.Leu1346Pro) c.3983T>C (p.Leu1328Pro) c.3984-41T>C (n.3984-41T>C) c.3629T>C (p.Leu1210Pro) c.2318T>C (p.Leu773Pro) | |
1 | g.11788202T>G | CA595078 | C1orf167,MTHFR | c.3401T>G (p.Leu1134Arg) c.3902T>G (p.Leu1301Arg) c.*2478A>C (n.*2478A>C) c.2037T>G c.4572A>C (n.4572A>C) c.3959T>G (p.Leu1320Arg) c.1401T>G c.1178-41T>G n.237-41T>G c.4037T>G (p.Leu1346Arg) c.3983T>G (p.Leu1328Arg) c.3984-41T>G (n.3984-41T>G) c.3629T>G (p.Leu1210Arg) c.2318T>G (p.Leu773Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788202T= | CA1144751603 | C1orf167,MTHFR | c.3401T= (p.Leu1134=) c.3902T= (p.Leu1301=) c.*2478A= (n.*2478A=) c.2037T= c.4572A= (n.4572A=) c.3959T= (p.Leu1320=) c.1401T= c.1178-41T= n.237-41T= c.4037T= (p.Leu1346=) c.3983T= (p.Leu1328=) c.3984-41T= (n.3984-41T=) c.3629T= (p.Leu1210=) c.2318T= (p.Leu773=) | |
1 | g.11788203C>A | CA416361732 | C1orf167,MTHFR | c.3402C>A (p.Leu1134=) c.3903C>A (p.Leu1301=) c.*2477G>T (n.*2477G>T) c.2038C>A c.4571G>T (n.4571G>T) c.3960C>A (p.Leu1320=) c.1402C>A c.1178-40C>A n.237-40C>A c.4038C>A (p.Leu1346=) c.3984C>A (p.Leu1328=) c.3984-40C>A (n.3984-40C>A) c.3630C>A (p.Leu1210=) c.2319C>A (p.Leu773=) | gnomAD v4 |
1 | g.11788203C>G | CA416361733 | C1orf167,MTHFR | c.3402C>G (p.Leu1134=) c.3903C>G (p.Leu1301=) c.*2477G>C (n.*2477G>C) c.2038C>G c.4571G>C (n.4571G>C) c.3960C>G (p.Leu1320=) c.1402C>G c.1178-40C>G n.237-40C>G c.4038C>G (p.Leu1346=) c.3984C>G (p.Leu1328=) c.3984-40C>G (n.3984-40C>G) c.3630C>G (p.Leu1210=) c.2319C>G (p.Leu773=) | |
1 | g.11788203C>T | CA416361734 | C1orf167,MTHFR | c.3402C>T (p.Leu1134=) c.3903C>T (p.Leu1301=) c.*2477G>A (n.*2477G>A) c.2038C>T c.4571G>A (n.4571G>A) c.3960C>T (p.Leu1320=) c.1402C>T c.1178-40C>T n.237-40C>T c.4038C>T (p.Leu1346=) c.3984C>T (p.Leu1328=) c.3984-40C>T (n.3984-40C>T) c.3630C>T (p.Leu1210=) c.2319C>T (p.Leu773=) | |
1 | g.11788203_11788206delinsCCTT | CA1153786981 | C1orf167,MTHFR | c.3402_3405delinsCCTT (p.Leu1134=) c.3903_3906delinsCCTT (p.Leu1301=) c.*2474_*2477delinsAAGG (n.*2474_*2477delinsAAGG) c.2038_2041delinsCCTT c.4568_4571delinsAAGG (n.4568_4571delinsAAGG) c.3960_3963delinsCCTT (p.Leu1320=) c.1402_1405delinsCCTT c.1178-40_1178-37delinsCCTT n.237-40_237-37delinsCCTT c.4038_4041delinsCCTT (p.Leu1346=) c.3984_3987delinsCCTT (p.Leu1328=) c.3984-40_3984-37delinsCCTT (n.3984-40_3984-37delinsCCTT) c.3630_3633delinsCCTT (p.Leu1210=) c.2319_2322delinsCCTT (p.Leu773=) | |
1 | g.11788204C>A | CA338470146 | C1orf167,MTHFR | c.3403C>A (p.Leu1135Ile) c.3904C>A (p.Leu1302Ile) c.*2476G>T (n.*2476G>T) c.2039C>A c.4570G>T (n.4570G>T) c.3961C>A (p.Leu1321Ile) c.1403C>A c.1178-39C>A n.237-39C>A c.4039C>A (p.Leu1347Ile) c.3985C>A (p.Leu1329Ile) c.3984-39C>A (n.3984-39C>A) c.3631C>A (p.Leu1211Ile) c.2320C>A (p.Leu774Ile) | |
1 | g.11788204C>G | CA338470147 | C1orf167,MTHFR | c.3403C>G (p.Leu1135Val) c.3904C>G (p.Leu1302Val) c.*2476G>C (n.*2476G>C) c.2039C>G c.4570G>C (n.4570G>C) c.3961C>G (p.Leu1321Val) c.1403C>G c.1178-39C>G n.237-39C>G c.4039C>G (p.Leu1347Val) c.3985C>G (p.Leu1329Val) c.3984-39C>G (n.3984-39C>G) c.3631C>G (p.Leu1211Val) c.2320C>G (p.Leu774Val) | |
1 | g.11788204C>T | CA338470148 | C1orf167,MTHFR | c.3403C>T (p.Leu1135Phe) c.3904C>T (p.Leu1302Phe) c.*2476G>A (n.*2476G>A) c.2039C>T c.4570G>A (n.4570G>A) c.3961C>T (p.Leu1321Phe) c.1403C>T c.1178-39C>T n.237-39C>T c.4039C>T (p.Leu1347Phe) c.3985C>T (p.Leu1329Phe) c.3984-39C>T (n.3984-39C>T) c.3631C>T (p.Leu1211Phe) c.2320C>T (p.Leu774Phe) | |
1 | g.11788206_11788208del | CA10607836 | C1orf167,MTHFR | c.3405_3407del (p.Leu1136del) c.3906_3908del (p.Leu1303del) c.*2474_*2476del (n.*2474_*2476del) c.2041_2043del c.4568_4570del (n.4568_4570del) c.3963_3965del (p.Leu1322del) c.1405_1407del c.1178-37_1178-35del n.237-37_237-35del c.4041_4043del (p.Leu1348del) c.3987_3989del (p.Leu1330del) c.3984-37_3984-35del (n.3984-37_3984-35del) c.3633_3635del (p.Leu1212del) c.2322_2324del (p.Leu775del) | ClinVar dbSNP gnomAD v4 |
1 | g.11788205T>A | CA338470149 | C1orf167,MTHFR | c.3404T>A (p.Leu1135His) c.3905T>A (p.Leu1302His) c.*2475A>T (n.*2475A>T) c.2040T>A c.4569A>T (n.4569A>T) c.3962T>A (p.Leu1321His) c.1404T>A c.1178-38T>A n.237-38T>A c.4040T>A (p.Leu1347His) c.3986T>A (p.Leu1329His) c.3984-38T>A (n.3984-38T>A) c.3632T>A (p.Leu1211His) c.2321T>A (p.Leu774His) | |
1 | g.11788205T>C | CA338470150 | C1orf167,MTHFR | c.3404T>C (p.Leu1135Pro) c.3905T>C (p.Leu1302Pro) c.*2475A>G (n.*2475A>G) c.2040T>C c.4569A>G (n.4569A>G) c.3962T>C (p.Leu1321Pro) c.1404T>C c.1178-38T>C n.237-38T>C c.4040T>C (p.Leu1347Pro) c.3986T>C (p.Leu1329Pro) c.3984-38T>C (n.3984-38T>C) c.3632T>C (p.Leu1211Pro) c.2321T>C (p.Leu774Pro) | |
1 | g.11788205T>G | CA17996227 | C1orf167,MTHFR | c.3404T>G (p.Leu1135Arg) c.3905T>G (p.Leu1302Arg) c.*2475A>C (n.*2475A>C) c.2040T>G c.4569A>C (n.4569A>C) c.3962T>G (p.Leu1321Arg) c.1404T>G c.1178-38T>G n.237-38T>G c.4040T>G (p.Leu1347Arg) c.3986T>G (p.Leu1329Arg) c.3984-38T>G (n.3984-38T>G) c.3632T>G (p.Leu1211Arg) c.2321T>G (p.Leu774Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788205T= | CA1153786997 | C1orf167,MTHFR | c.3404T= (p.Leu1135=) c.3905T= (p.Leu1302=) c.*2475A= (n.*2475A=) c.2040T= c.4569A= (n.4569A=) c.3962T= (p.Leu1321=) c.1404T= c.1178-38T= n.237-38T= c.4040T= (p.Leu1347=) c.3986T= (p.Leu1329=) c.3984-38T= (n.3984-38T=) c.3632T= (p.Leu1211=) c.2321T= (p.Leu774=) | |
1 | g.11788206T>A | CA416361735 | C1orf167,MTHFR | c.3405T>A (p.Leu1135=) c.3906T>A (p.Leu1302=) c.*2474A>T (n.*2474A>T) c.2041T>A c.4568A>T (n.4568A>T) c.3963T>A (p.Leu1321=) c.1405T>A c.1178-37T>A n.237-37T>A c.4041T>A (p.Leu1347=) c.3987T>A (p.Leu1329=) c.3984-37T>A (n.3984-37T>A) c.3633T>A (p.Leu1211=) c.2322T>A (p.Leu774=) | |
1 | g.11788206T>C | CA416361736 | C1orf167,MTHFR | c.3405T>C (p.Leu1135=) c.3906T>C (p.Leu1302=) c.*2474A>G (n.*2474A>G) c.2041T>C c.4568A>G (n.4568A>G) c.3963T>C (p.Leu1321=) c.1405T>C c.1178-37T>C n.237-37T>C c.4041T>C (p.Leu1347=) c.3987T>C (p.Leu1329=) c.3984-37T>C (n.3984-37T>C) c.3633T>C (p.Leu1211=) c.2322T>C (p.Leu774=) | gnomAD v4 |
1 | g.11788206T>G | CA416361737 | C1orf167,MTHFR | c.3405T>G (p.Leu1135=) c.3906T>G (p.Leu1302=) c.*2474A>C (n.*2474A>C) c.2041T>G c.4568A>C (n.4568A>C) c.3963T>G (p.Leu1321=) c.1405T>G c.1178-37T>G n.237-37T>G c.4041T>G (p.Leu1347=) c.3987T>G (p.Leu1329=) c.3984-37T>G (n.3984-37T>G) c.3633T>G (p.Leu1211=) c.2322T>G (p.Leu774=) | |
1 | g.11788207C>A | CA338470151 | C1orf167,MTHFR | c.3406C>A (p.Leu1136Met) c.3907C>A (p.Leu1303Met) c.*2473G>T (n.*2473G>T) c.2042C>A c.4567G>T (n.4567G>T) c.3964C>A (p.Leu1322Met) c.1406C>A c.1178-36C>A n.237-36C>A c.4042C>A (p.Leu1348Met) c.3988C>A (p.Leu1330Met) c.3984-36C>A (n.3984-36C>A) c.3634C>A (p.Leu1212Met) c.2323C>A (p.Leu775Met) | gnomAD v4 |
1 | g.11788207C>G | CA338470152 | C1orf167,MTHFR | c.3406C>G (p.Leu1136Val) c.3907C>G (p.Leu1303Val) c.*2473G>C (n.*2473G>C) c.2042C>G c.4567G>C (n.4567G>C) c.3964C>G (p.Leu1322Val) c.1406C>G c.1178-36C>G n.237-36C>G c.4042C>G (p.Leu1348Val) c.3988C>G (p.Leu1330Val) c.3984-36C>G (n.3984-36C>G) c.3634C>G (p.Leu1212Val) c.2323C>G (p.Leu775Val) | |
1 | g.11788207C>T | CA416361738 | C1orf167,MTHFR | c.3406C>T (p.Leu1136=) c.3907C>T (p.Leu1303=) c.*2473G>A (n.*2473G>A) c.2042C>T c.4567G>A (n.4567G>A) c.3964C>T (p.Leu1322=) c.1406C>T c.1178-36C>T n.237-36C>T c.4042C>T (p.Leu1348=) c.3988C>T (p.Leu1330=) c.3984-36C>T (n.3984-36C>T) c.3634C>T (p.Leu1212=) c.2323C>T (p.Leu775=) | |
1 | g.11788208T>A | CA338470153 | C1orf167,MTHFR | c.3407T>A (p.Leu1136Gln) c.3908T>A (p.Leu1303Gln) c.*2472A>T (n.*2472A>T) c.2043T>A c.4566A>T (n.4566A>T) c.3965T>A (p.Leu1322Gln) c.1407T>A c.1178-35T>A n.237-35T>A c.4043T>A (p.Leu1348Gln) c.3989T>A (p.Leu1330Gln) c.3984-35T>A (n.3984-35T>A) c.3635T>A (p.Leu1212Gln) c.2324T>A (p.Leu775Gln) | |
1 | g.11788208T>C | CA338470154 | C1orf167,MTHFR | c.3407T>C (p.Leu1136Pro) c.3908T>C (p.Leu1303Pro) c.*2472A>G (n.*2472A>G) c.2043T>C c.4566A>G (n.4566A>G) c.3965T>C (p.Leu1322Pro) c.1407T>C c.1178-35T>C n.237-35T>C c.4043T>C (p.Leu1348Pro) c.3989T>C (p.Leu1330Pro) c.3984-35T>C (n.3984-35T>C) c.3635T>C (p.Leu1212Pro) c.2324T>C (p.Leu775Pro) | |
1 | g.11788208T>G | CA338470155 | C1orf167,MTHFR | c.3407T>G (p.Leu1136Arg) c.3908T>G (p.Leu1303Arg) c.*2472A>C (n.*2472A>C) c.2043T>G c.4566A>C (n.4566A>C) c.3965T>G (p.Leu1322Arg) c.1407T>G c.1178-35T>G n.237-35T>G c.4043T>G (p.Leu1348Arg) c.3989T>G (p.Leu1330Arg) c.3984-35T>G (n.3984-35T>G) c.3635T>G (p.Leu1212Arg) c.2324T>G (p.Leu775Arg) | |
1 | g.11788209G>A | CA416361739 | C1orf167,MTHFR | c.3408G>A (p.Leu1136=) c.3909G>A (p.Leu1303=) c.*2471C>T (n.*2471C>T) c.2044G>A c.4565C>T (n.4565C>T) c.3966G>A (p.Leu1322=) c.1408G>A c.1178-34G>A n.237-34G>A c.4044G>A (p.Leu1348=) c.3990G>A (p.Leu1330=) c.3984-34G>A (n.3984-34G>A) c.3636G>A (p.Leu1212=) c.2325G>A (p.Leu775=) | |
1 | g.11788209G>C | CA416361740 | C1orf167,MTHFR | c.3408G>C (p.Leu1136=) c.3909G>C (p.Leu1303=) c.*2471C>G (n.*2471C>G) c.2044G>C c.4565C>G (n.4565C>G) c.3966G>C (p.Leu1322=) c.1408G>C c.1178-34G>C n.237-34G>C c.4044G>C (p.Leu1348=) c.3990G>C (p.Leu1330=) c.3984-34G>C (n.3984-34G>C) c.3636G>C (p.Leu1212=) c.2325G>C (p.Leu775=) | |
1 | g.11788209G>T | CA416361741 | C1orf167,MTHFR | c.3408G>T (p.Leu1136=) c.3909G>T (p.Leu1303=) c.*2471C>A (n.*2471C>A) c.2044G>T c.4565C>A (n.4565C>A) c.3966G>T (p.Leu1322=) c.1408G>T c.1178-34G>T n.237-34G>T c.4044G>T (p.Leu1348=) c.3990G>T (p.Leu1330=) c.3984-34G>T (n.3984-34G>T) c.3636G>T (p.Leu1212=) c.2325G>T (p.Leu775=) | |
1 | g.11788210G>A | CA338470156 | C1orf167,MTHFR | c.3409G>A (p.Ala1137Thr) c.3910G>A (p.Ala1304Thr) c.*2470C>T (n.*2470C>T) c.2045G>A c.4564C>T (n.4564C>T) c.3967G>A (p.Ala1323Thr) c.1409G>A c.1178-33G>A n.237-33G>A c.4045G>A (p.Ala1349Thr) c.3991G>A (p.Ala1331Thr) c.3984-33G>A (n.3984-33G>A) c.3637G>A (p.Ala1213Thr) c.2326G>A (p.Ala776Thr) | |
1 | g.11788210G>C | CA338470158 | C1orf167,MTHFR | c.3409G>C (p.Ala1137Pro) c.3910G>C (p.Ala1304Pro) c.*2470C>G (n.*2470C>G) c.2045G>C c.4564C>G (n.4564C>G) c.3967G>C (p.Ala1323Pro) c.1409G>C c.1178-33G>C n.237-33G>C c.4045G>C (p.Ala1349Pro) c.3991G>C (p.Ala1331Pro) c.3984-33G>C (n.3984-33G>C) c.3637G>C (p.Ala1213Pro) c.2326G>C (p.Ala776Pro) | |
1 | g.11788210G>T | CA338470157 | C1orf167,MTHFR | c.3409G>T (p.Ala1137Ser) c.3910G>T (p.Ala1304Ser) c.*2470C>A (n.*2470C>A) c.2045G>T c.4564C>A (n.4564C>A) c.3967G>T (p.Ala1323Ser) c.1409G>T c.1178-33G>T n.237-33G>T c.4045G>T (p.Ala1349Ser) c.3991G>T (p.Ala1331Ser) c.3984-33G>T (n.3984-33G>T) c.3637G>T (p.Ala1213Ser) c.2326G>T (p.Ala776Ser) | |
1 | g.11788211C>A | CA338470159 | C1orf167,MTHFR | c.3410C>A (p.Ala1137Asp) c.3911C>A (p.Ala1304Asp) c.*2469G>T (n.*2469G>T) c.2046C>A c.4563G>T (n.4563G>T) c.3968C>A (p.Ala1323Asp) c.1410C>A c.1178-32C>A n.237-32C>A c.4046C>A (p.Ala1349Asp) c.3992C>A (p.Ala1331Asp) c.3984-32C>A (n.3984-32C>A) c.3638C>A (p.Ala1213Asp) c.2327C>A (p.Ala776Asp) | gnomAD v4 |
1 | g.11788211C>G | CA338470161 | C1orf167,MTHFR | c.3410C>G (p.Ala1137Gly) c.3911C>G (p.Ala1304Gly) c.*2469G>C (n.*2469G>C) c.2046C>G c.4563G>C (n.4563G>C) c.3968C>G (p.Ala1323Gly) c.1410C>G c.1178-32C>G n.237-32C>G c.4046C>G (p.Ala1349Gly) c.3992C>G (p.Ala1331Gly) c.3984-32C>G (n.3984-32C>G) c.3638C>G (p.Ala1213Gly) c.2327C>G (p.Ala776Gly) | |
1 | g.11788211C>T | CA338470160 | C1orf167,MTHFR | c.3410C>T (p.Ala1137Val) c.3911C>T (p.Ala1304Val) c.*2469G>A (n.*2469G>A) c.2046C>T c.4563G>A (n.4563G>A) c.3968C>T (p.Ala1323Val) c.1410C>T c.1178-32C>T n.237-32C>T c.4046C>T (p.Ala1349Val) c.3992C>T (p.Ala1331Val) c.3984-32C>T (n.3984-32C>T) c.3638C>T (p.Ala1213Val) c.2327C>T (p.Ala776Val) | |
1 | g.11788212C>A | CA416361742 | C1orf167,MTHFR | c.3411C>A (p.Ala1137=) c.3912C>A (p.Ala1304=) c.*2468G>T (n.*2468G>T) c.2047C>A c.4562G>T (n.4562G>T) c.3969C>A (p.Ala1323=) c.1411C>A c.1178-31C>A n.237-31C>A c.4047C>A (p.Ala1349=) c.3993C>A (p.Ala1331=) c.3984-31C>A (n.3984-31C>A) c.3639C>A (p.Ala1213=) c.2328C>A (p.Ala776=) | gnomAD v4 |
1 | g.11788212C>G | CA416361743 | C1orf167,MTHFR | c.3411C>G (p.Ala1137=) c.3912C>G (p.Ala1304=) c.*2468G>C (n.*2468G>C) c.2047C>G c.4562G>C (n.4562G>C) c.3969C>G (p.Ala1323=) c.1411C>G c.1178-31C>G n.237-31C>G c.4047C>G (p.Ala1349=) c.3993C>G (p.Ala1331=) c.3984-31C>G (n.3984-31C>G) c.3639C>G (p.Ala1213=) c.2328C>G (p.Ala776=) | |
1 | g.11788212C>T | CA416361744 | C1orf167,MTHFR | c.3411C>T (p.Ala1137=) c.3912C>T (p.Ala1304=) c.*2468G>A (n.*2468G>A) c.2047C>T c.4562G>A (n.4562G>A) c.3969C>T (p.Ala1323=) c.1411C>T c.1178-31C>T n.237-31C>T c.4047C>T (p.Ala1349=) c.3993C>T (p.Ala1331=) c.3984-31C>T (n.3984-31C>T) c.3639C>T (p.Ala1213=) c.2328C>T (p.Ala776=) | |
1 | g.11788213C>A | CA338470162 | C1orf167,MTHFR | c.3412C>A (p.Leu1138Met) c.3913C>A (p.Leu1305Met) c.*2467G>T (n.*2467G>T) c.2048C>A c.4561G>T (n.4561G>T) c.3970C>A (p.Leu1324Met) c.1412C>A c.1178-30C>A n.237-30C>A c.4048C>A (p.Leu1350Met) c.3994C>A (p.Leu1332Met) c.3984-30C>A (n.3984-30C>A) c.3640C>A (p.Leu1214Met) c.2329C>A (p.Leu777Met) | |
1 | g.11788213C>G | CA338470163 | C1orf167,MTHFR | c.3412C>G (p.Leu1138Val) c.3913C>G (p.Leu1305Val) c.*2467G>C (n.*2467G>C) c.2048C>G c.4561G>C (n.4561G>C) c.3970C>G (p.Leu1324Val) c.1412C>G c.1178-30C>G n.237-30C>G c.4048C>G (p.Leu1350Val) c.3994C>G (p.Leu1332Val) c.3984-30C>G (n.3984-30C>G) c.3640C>G (p.Leu1214Val) c.2329C>G (p.Leu777Val) | gnomAD v4 |
1 | g.11788213C>T | CA416361745 | C1orf167,MTHFR | c.3412C>T (p.Leu1138=) c.3913C>T (p.Leu1305=) c.*2467G>A (n.*2467G>A) c.2048C>T c.4561G>A (n.4561G>A) c.3970C>T (p.Leu1324=) c.1412C>T c.1178-30C>T n.237-30C>T c.4048C>T (p.Leu1350=) c.3994C>T (p.Leu1332=) c.3984-30C>T (n.3984-30C>T) c.3640C>T (p.Leu1214=) c.2329C>T (p.Leu777=) | gnomAD v4 |
1 | g.11788214T>A | CA338470164 | C1orf167,MTHFR | c.3413T>A (p.Leu1138Gln) c.3914T>A (p.Leu1305Gln) c.*2466A>T (n.*2466A>T) c.2049T>A c.4560A>T (n.4560A>T) c.3971T>A (p.Leu1324Gln) c.1413T>A c.1178-29T>A n.237-29T>A c.4049T>A (p.Leu1350Gln) c.3995T>A (p.Leu1332Gln) c.3984-29T>A (n.3984-29T>A) c.3641T>A (p.Leu1214Gln) c.2330T>A (p.Leu777Gln) | |
1 | g.11788214T>C | CA338470165 | C1orf167,MTHFR | c.3413T>C (p.Leu1138Pro) c.3914T>C (p.Leu1305Pro) c.*2466A>G (n.*2466A>G) c.2049T>C c.4560A>G (n.4560A>G) c.3971T>C (p.Leu1324Pro) c.1413T>C c.1178-29T>C n.237-29T>C c.4049T>C (p.Leu1350Pro) c.3995T>C (p.Leu1332Pro) c.3984-29T>C (n.3984-29T>C) c.3641T>C (p.Leu1214Pro) c.2330T>C (p.Leu777Pro) | |
1 | g.11788214T>G | CA338470166 | C1orf167,MTHFR | c.3413T>G (p.Leu1138Arg) c.3914T>G (p.Leu1305Arg) c.*2466A>C (n.*2466A>C) c.2049T>G c.4560A>C (n.4560A>C) c.3971T>G (p.Leu1324Arg) c.1413T>G c.1178-29T>G n.237-29T>G c.4049T>G (p.Leu1350Arg) c.3995T>G (p.Leu1332Arg) c.3984-29T>G (n.3984-29T>G) c.3641T>G (p.Leu1214Arg) c.2330T>G (p.Leu777Arg) | |
1 | g.11788215G>A | CA416361746 | C1orf167,MTHFR | c.3414G>A (p.Leu1138=) c.3915G>A (p.Leu1305=) c.*2465C>T (n.*2465C>T) c.2050G>A c.4559C>T (n.4559C>T) c.3972G>A (p.Leu1324=) c.1414G>A c.1178-28G>A n.237-28G>A c.4050G>A (p.Leu1350=) c.3996G>A (p.Leu1332=) c.3984-28G>A (n.3984-28G>A) c.3642G>A (p.Leu1214=) c.2331G>A (p.Leu777=) | dbSNP gnomAD v4 |
1 | g.11788215G>C | CA416361747 | C1orf167,MTHFR | c.3414G>C (p.Leu1138=) c.3915G>C (p.Leu1305=) c.*2465C>G (n.*2465C>G) c.2050G>C c.4559C>G (n.4559C>G) c.3972G>C (p.Leu1324=) c.1414G>C c.1178-28G>C n.237-28G>C c.4050G>C (p.Leu1350=) c.3996G>C (p.Leu1332=) c.3984-28G>C (n.3984-28G>C) c.3642G>C (p.Leu1214=) c.2331G>C (p.Leu777=) | |
1 | g.11788215G= | CA1153787003 | C1orf167,MTHFR | c.3414G= (p.Leu1138=) c.3915G= (p.Leu1305=) c.*2465C= (n.*2465C=) c.2050G= c.4559C= (n.4559C=) c.3972G= (p.Leu1324=) c.1414G= c.1178-28G= n.237-28G= c.4050G= (p.Leu1350=) c.3996G= (p.Leu1332=) c.3984-28G= (n.3984-28G=) c.3642G= (p.Leu1214=) c.2331G= (p.Leu777=) | |
1 | g.11788215G>T | CA416361748 | C1orf167,MTHFR | c.3414G>T (p.Leu1138=) c.3915G>T (p.Leu1305=) c.*2465C>A (n.*2465C>A) c.2050G>T c.4559C>A (n.4559C>A) c.3972G>T (p.Leu1324=) c.1414G>T c.1178-28G>T n.237-28G>T c.4050G>T (p.Leu1350=) c.3996G>T (p.Leu1332=) c.3984-28G>T (n.3984-28G>T) c.3642G>T (p.Leu1214=) c.2331G>T (p.Leu777=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788216A>C | CA338470167 | C1orf167,MTHFR | c.3415A>C (p.Lys1139Gln) c.3916A>C (p.Lys1306Gln) c.*2464T>G (n.*2464T>G) c.2051A>C c.4558T>G (n.4558T>G) c.3973A>C (p.Lys1325Gln) c.1415A>C c.1178-27A>C n.237-27A>C c.4051A>C (p.Lys1351Gln) c.3997A>C (p.Lys1333Gln) c.3984-27A>C (n.3984-27A>C) c.3643A>C (p.Lys1215Gln) c.2332A>C (p.Lys778Gln) | |
1 | g.11788216A>G | CA338470168 | C1orf167,MTHFR | c.3415A>G (p.Lys1139Glu) c.3916A>G (p.Lys1306Glu) c.*2464T>C (n.*2464T>C) c.2051A>G c.4558T>C (n.4558T>C) c.3973A>G (p.Lys1325Glu) c.1415A>G c.1178-27A>G n.237-27A>G c.4051A>G (p.Lys1351Glu) c.3997A>G (p.Lys1333Glu) c.3984-27A>G (n.3984-27A>G) c.3643A>G (p.Lys1215Glu) c.2332A>G (p.Lys778Glu) | |
1 | g.11788216A>T | CA338470169 | C1orf167,MTHFR | c.3415A>T (p.Lys1139Ter) c.3916A>T (p.Lys1306Ter) c.*2464T>A (n.*2464T>A) c.2051A>T c.4558T>A (n.4558T>A) c.3973A>T (p.Lys1325Ter) c.1415A>T c.1178-27A>T n.237-27A>T c.4051A>T (p.Lys1351Ter) c.3997A>T (p.Lys1333Ter) c.3984-27A>T (n.3984-27A>T) c.3643A>T (p.Lys1215Ter) c.2332A>T (p.Lys778Ter) | |
1 | g.11788216_11788219delinsAAGG | CA1153787012 | C1orf167,MTHFR | c.3415_3418delinsAAGG (p.Lys1139=) c.3916_3919delinsAAGG (p.Lys1306=) c.*2461_*2464delinsCCTT (n.*2461_*2464delinsCCTT) c.2051_2054delinsAAGG c.4555_4558delinsCCTT (n.4555_4558delinsCCTT) c.3973_3976delinsAAGG (p.Lys1325=) c.1415_1418delinsAAGG c.1178-27_1178-24delinsAAGG n.237-27_237-24delinsAAGG c.4051_4054delinsAAGG (p.Lys1351=) c.3997_4000delinsAAGG (p.Lys1333=) c.3984-27_3984-24delinsAAGG (n.3984-27_3984-24delinsAAGG) c.3643_3646delinsAAGG (p.Lys1215=) c.2332_2335delinsAAGG (p.Lys778=) | |
1 | g.11788217A= | CA1153787021 | C1orf167,MTHFR | c.3416A= (p.Lys1139=) c.3917A= (p.Lys1306=) c.*2463T= (n.*2463T=) c.2052A= c.4557T= (n.4557T=) c.3974A= (p.Lys1325=) c.1416A= c.1178-26A= n.237-26A= c.4052A= (p.Lys1351=) c.3998A= (p.Lys1333=) c.3984-26A= (n.3984-26A=) c.3644A= (p.Lys1215=) c.2333A= (p.Lys778=) | |
1 | g.11788217A>C | CA338470170 | C1orf167,MTHFR | c.3416A>C (p.Lys1139Thr) c.3917A>C (p.Lys1306Thr) c.*2463T>G (n.*2463T>G) c.2052A>C c.4557T>G (n.4557T>G) c.3974A>C (p.Lys1325Thr) c.1416A>C c.1178-26A>C n.237-26A>C c.4052A>C (p.Lys1351Thr) c.3998A>C (p.Lys1333Thr) c.3984-26A>C (n.3984-26A>C) c.3644A>C (p.Lys1215Thr) c.2333A>C (p.Lys778Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788217A>G | CA338470171 | C1orf167,MTHFR | c.3416A>G (p.Lys1139Arg) c.3917A>G (p.Lys1306Arg) c.*2463T>C (n.*2463T>C) c.2052A>G c.4557T>C (n.4557T>C) c.3974A>G (p.Lys1325Arg) c.1416A>G c.1178-26A>G n.237-26A>G c.4052A>G (p.Lys1351Arg) c.3998A>G (p.Lys1333Arg) c.3984-26A>G (n.3984-26A>G) c.3644A>G (p.Lys1215Arg) c.2333A>G (p.Lys778Arg) | |
1 | g.11788217A>T | CA338470172 | C1orf167,MTHFR | c.3416A>T (p.Lys1139Met) c.3917A>T (p.Lys1306Met) c.*2463T>A (n.*2463T>A) c.2052A>T c.4557T>A (n.4557T>A) c.3974A>T (p.Lys1325Met) c.1416A>T c.1178-26A>T n.237-26A>T c.4052A>T (p.Lys1351Met) c.3998A>T (p.Lys1333Met) c.3984-26A>T (n.3984-26A>T) c.3644A>T (p.Lys1215Met) c.2333A>T (p.Lys778Met) | |
1 | g.11788217_11788219del | CA1153787019 | C1orf167,MTHFR | c.3416_3418del (p.Lys1139_Gly1140delinsSer) c.3917_3919del (p.Lys1306_Gly1307delinsSer) c.*2461_*2463del (n.*2461_*2463del) c.2052_2054del c.4555_4557del (n.4555_4557del) c.3974_3976del (p.Lys1325_Gly1326delinsSer) c.1416_1418del c.1178-26_1178-24del n.237-26_237-24del c.4052_4054del (p.Lys1351_Gly1352delinsSer) c.3998_4000del (p.Lys1333_Gly1334delinsSer) c.3984-26_3984-24del (n.3984-26_3984-24del) c.3644_3646del (p.Lys1215_Gly1216delinsSer) c.2333_2335del (p.Lys778_Gly779delinsSer) | dbSNP |
1 | g.11788218G>A | CA416361749 | C1orf167,MTHFR | c.3417G>A (p.Lys1139=) c.3918G>A (p.Lys1306=) c.*2462C>T (n.*2462C>T) c.2053G>A c.4556C>T (n.4556C>T) c.3975G>A (p.Lys1325=) c.1417G>A c.1178-25G>A n.237-25G>A c.4053G>A (p.Lys1351=) c.3999G>A (p.Lys1333=) c.3984-25G>A (n.3984-25G>A) c.3645G>A (p.Lys1215=) c.2334G>A (p.Lys778=) | |
1 | g.11788218G>C | CA338470173 | C1orf167,MTHFR | c.3417G>C (p.Lys1139Asn) c.3918G>C (p.Lys1306Asn) c.*2462C>G (n.*2462C>G) c.2053G>C c.4556C>G (n.4556C>G) c.3975G>C (p.Lys1325Asn) c.1417G>C c.1178-25G>C n.237-25G>C c.4053G>C (p.Lys1351Asn) c.3999G>C (p.Lys1333Asn) c.3984-25G>C (n.3984-25G>C) c.3645G>C (p.Lys1215Asn) c.2334G>C (p.Lys778Asn) | |
1 | g.11788218G>T | CA338470174 | C1orf167,MTHFR | c.3417G>T (p.Lys1139Asn) c.3918G>T (p.Lys1306Asn) c.*2462C>A (n.*2462C>A) c.2053G>T c.4556C>A (n.4556C>A) c.3975G>T (p.Lys1325Asn) c.1417G>T c.1178-25G>T n.237-25G>T c.4053G>T (p.Lys1351Asn) c.3999G>T (p.Lys1333Asn) c.3984-25G>T (n.3984-25G>T) c.3645G>T (p.Lys1215Asn) c.2334G>T (p.Lys778Asn) | |
1 | g.11788220del | CA2643295635 | C1orf167,MTHFR | c.3419del (p.Gly1140ValfsTer?) c.3920del (p.Gly1307ValfsTer?) c.*2462del (n.*2462del) c.2055del c.4556del (n.4556del) c.3977del (p.Gly1326ValfsTer?) c.1419del c.1178-23del n.237-23del c.4055del (p.Gly1352ValfsTer?) c.4001del (p.Gly1334ValfsTer?) c.3984-23del (n.3984-23del) c.3647del (p.Gly1216ValfsTer?) c.2336del (p.Gly779ValfsTer?) | gnomAD v4 |
1 | g.11788219G>A | CA338470175 | C1orf167,MTHFR | c.3418G>A (p.Gly1140Ser) c.3919G>A (p.Gly1307Ser) c.*2461C>T (n.*2461C>T) c.2054G>A c.4555C>T (n.4555C>T) c.3976G>A (p.Gly1326Ser) c.1418G>A c.1178-24G>A n.237-24G>A c.4054G>A (p.Gly1352Ser) c.4000G>A (p.Gly1334Ser) c.3984-24G>A (n.3984-24G>A) c.3646G>A (p.Gly1216Ser) c.2335G>A (p.Gly779Ser) | |
1 | g.11788219G>C | CA338470177 | C1orf167,MTHFR | c.3418G>C (p.Gly1140Arg) c.3919G>C (p.Gly1307Arg) c.*2461C>G (n.*2461C>G) c.2054G>C c.4555C>G (n.4555C>G) c.3976G>C (p.Gly1326Arg) c.1418G>C c.1178-24G>C n.237-24G>C c.4054G>C (p.Gly1352Arg) c.4000G>C (p.Gly1334Arg) c.3984-24G>C (n.3984-24G>C) c.3646G>C (p.Gly1216Arg) c.2335G>C (p.Gly779Arg) | dbSNP gnomAD v4 |
1 | g.11788219G= | CA1153787027 | C1orf167,MTHFR | c.3418G= (p.Gly1140=) c.3919G= (p.Gly1307=) c.*2461C= (n.*2461C=) c.2054G= c.4555C= (n.4555C=) c.3976G= (p.Gly1326=) c.1418G= c.1178-24G= n.237-24G= c.4054G= (p.Gly1352=) c.4000G= (p.Gly1334=) c.3984-24G= (n.3984-24G=) c.3646G= (p.Gly1216=) c.2335G= (p.Gly779=) | |
1 | g.11788219G>T | CA338470176 | C1orf167,MTHFR | c.3418G>T (p.Gly1140Cys) c.3919G>T (p.Gly1307Cys) c.*2461C>A (n.*2461C>A) c.2054G>T c.4555C>A (n.4555C>A) c.3976G>T (p.Gly1326Cys) c.1418G>T c.1178-24G>T n.237-24G>T c.4054G>T (p.Gly1352Cys) c.4000G>T (p.Gly1334Cys) c.3984-24G>T (n.3984-24G>T) c.3646G>T (p.Gly1216Cys) c.2335G>T (p.Gly779Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788220G>A | CA338470178 | C1orf167,MTHFR | c.3419G>A (p.Gly1140Asp) c.3920G>A (p.Gly1307Asp) c.*2460C>T (n.*2460C>T) c.2055G>A c.4554C>T (n.4554C>T) c.3977G>A (p.Gly1326Asp) c.1419G>A c.1178-23G>A n.237-23G>A c.4055G>A (p.Gly1352Asp) c.4001G>A (p.Gly1334Asp) c.3984-23G>A (n.3984-23G>A) c.3647G>A (p.Gly1216Asp) c.2336G>A (p.Gly779Asp) | |
1 | g.11788220G>C | CA338470179 | C1orf167,MTHFR | c.3419G>C (p.Gly1140Ala) c.3920G>C (p.Gly1307Ala) c.*2460C>G (n.*2460C>G) c.2055G>C c.4554C>G (n.4554C>G) c.3977G>C (p.Gly1326Ala) c.1419G>C c.1178-23G>C n.237-23G>C c.4055G>C (p.Gly1352Ala) c.4001G>C (p.Gly1334Ala) c.3984-23G>C (n.3984-23G>C) c.3647G>C (p.Gly1216Ala) c.2336G>C (p.Gly779Ala) | dbSNP gnomAD v4 |
1 | g.11788220G= | CA1153787031 | C1orf167,MTHFR | c.3419G= (p.Gly1140=) c.3920G= (p.Gly1307=) c.*2460C= (n.*2460C=) c.2055G= c.4554C= (n.4554C=) c.3977G= (p.Gly1326=) c.1419G= c.1178-23G= n.237-23G= c.4055G= (p.Gly1352=) c.4001G= (p.Gly1334=) c.3984-23G= (n.3984-23G=) c.3647G= (p.Gly1216=) c.2336G= (p.Gly779=) | |
1 | g.11788220G>T | CA338470180 | C1orf167,MTHFR | c.3419G>T (p.Gly1140Val) c.3920G>T (p.Gly1307Val) c.*2460C>A (n.*2460C>A) c.2055G>T c.4554C>A (n.4554C>A) c.3977G>T (p.Gly1326Val) c.1419G>T c.1178-23G>T n.237-23G>T c.4055G>T (p.Gly1352Val) c.4001G>T (p.Gly1334Val) c.3984-23G>T (n.3984-23G>T) c.3647G>T (p.Gly1216Val) c.2336G>T (p.Gly779Val) | |
1 | g.11788221T>A | CA416361750 | C1orf167,MTHFR | c.3420T>A (p.Gly1140=) c.3921T>A (p.Gly1307=) c.*2459A>T (n.*2459A>T) c.2056T>A c.4553A>T (n.4553A>T) c.3978T>A (p.Gly1326=) c.1420T>A c.1178-22T>A n.237-22T>A c.4056T>A (p.Gly1352=) c.4002T>A (p.Gly1334=) c.3984-22T>A (n.3984-22T>A) c.3648T>A (p.Gly1216=) c.2337T>A (p.Gly779=) | |
1 | g.11788221T>C | CA416361751 | C1orf167,MTHFR | c.3420T>C (p.Gly1140=) c.3921T>C (p.Gly1307=) c.*2459A>G (n.*2459A>G) c.2056T>C c.4553A>G (n.4553A>G) c.3978T>C (p.Gly1326=) c.1420T>C c.1178-22T>C n.237-22T>C c.4056T>C (p.Gly1352=) c.4002T>C (p.Gly1334=) c.3984-22T>C (n.3984-22T>C) c.3648T>C (p.Gly1216=) c.2337T>C (p.Gly779=) | gnomAD v4 |
1 | g.11788221T>G | CA416361752 | C1orf167,MTHFR | c.3420T>G (p.Gly1140=) c.3921T>G (p.Gly1307=) c.*2459A>C (n.*2459A>C) c.2056T>G c.4553A>C (n.4553A>C) c.3978T>G (p.Gly1326=) c.1420T>G c.1178-22T>G n.237-22T>G c.4056T>G (p.Gly1352=) c.4002T>G (p.Gly1334=) c.3984-22T>G (n.3984-22T>G) c.3648T>G (p.Gly1216=) c.2337T>G (p.Gly779=) | |
1 | g.11788222C>A | CA338470181 | C1orf167,MTHFR | c.3421C>A (p.His1141Asn) c.3922C>A (p.His1308Asn) c.*2458G>T (n.*2458G>T) c.2057C>A c.4552G>T (n.4552G>T) c.3979C>A (p.His1327Asn) c.1421C>A c.1178-21C>A n.237-21C>A c.4057C>A (p.His1353Asn) c.4003C>A (p.His1335Asn) c.3984-21C>A (n.3984-21C>A) c.3649C>A (p.His1217Asn) c.2338C>A (p.His780Asn) | |
1 | g.11788222C>G | CA338470182 | C1orf167,MTHFR | c.3421C>G (p.His1141Asp) c.3922C>G (p.His1308Asp) c.*2458G>C (n.*2458G>C) c.2057C>G c.4552G>C (n.4552G>C) c.3979C>G (p.His1327Asp) c.1421C>G c.1178-21C>G n.237-21C>G c.4057C>G (p.His1353Asp) c.4003C>G (p.His1335Asp) c.3984-21C>G (n.3984-21C>G) c.3649C>G (p.His1217Asp) c.2338C>G (p.His780Asp) | |
1 | g.11788222C>T | CA338470183 | C1orf167,MTHFR | c.3421C>T (p.His1141Tyr) c.3922C>T (p.His1308Tyr) c.*2458G>A (n.*2458G>A) c.2057C>T c.4552G>A (n.4552G>A) c.3979C>T (p.His1327Tyr) c.1421C>T c.1178-21C>T n.237-21C>T c.4057C>T (p.His1353Tyr) c.4003C>T (p.His1335Tyr) c.3984-21C>T (n.3984-21C>T) c.3649C>T (p.His1217Tyr) c.2338C>T (p.His780Tyr) | |
1 | g.11788223A= | CA1153787037 | C1orf167,MTHFR | c.3422A= (p.His1141=) c.3923A= (p.His1308=) c.*2457T= (n.*2457T=) c.2058A= c.4551T= (n.4551T=) c.3980A= (p.His1327=) c.1422A= c.1178-20A= n.237-20A= c.4058A= (p.His1353=) c.4004A= (p.His1335=) c.3984-20A= (n.3984-20A=) c.3650A= (p.His1217=) c.2339A= (p.His780=) | |
1 | g.11788223A>C | CA338470184 | C1orf167,MTHFR | c.3422A>C (p.His1141Pro) c.3923A>C (p.His1308Pro) c.*2457T>G (n.*2457T>G) c.2058A>C c.4551T>G (n.4551T>G) c.3980A>C (p.His1327Pro) c.1422A>C c.1178-20A>C n.237-20A>C c.4058A>C (p.His1353Pro) c.4004A>C (p.His1335Pro) c.3984-20A>C (n.3984-20A>C) c.3650A>C (p.His1217Pro) c.2339A>C (p.His780Pro) | |
1 | g.11788223A>G | CA338470185 | C1orf167,MTHFR | c.3422A>G (p.His1141Arg) c.3923A>G (p.His1308Arg) c.*2457T>C (n.*2457T>C) c.2058A>G c.4551T>C (n.4551T>C) c.3980A>G (p.His1327Arg) c.1422A>G c.1178-20A>G n.237-20A>G c.4058A>G (p.His1353Arg) c.4004A>G (p.His1335Arg) c.3984-20A>G (n.3984-20A>G) c.3650A>G (p.His1217Arg) c.2339A>G (p.His780Arg) | |
1 | g.11788223A>T | CA338470186 | C1orf167,MTHFR | c.3422A>T (p.His1141Leu) c.3923A>T (p.His1308Leu) c.*2457T>A (n.*2457T>A) c.2058A>T c.4551T>A (n.4551T>A) c.3980A>T (p.His1327Leu) c.1422A>T c.1178-20A>T n.237-20A>T c.4058A>T (p.His1353Leu) c.4004A>T (p.His1335Leu) c.3984-20A>T (n.3984-20A>T) c.3650A>T (p.His1217Leu) c.2339A>T (p.His780Leu) | |
1 | g.11788224C>A | CA338470188 | C1orf167,MTHFR | c.3423C>A (p.His1141Gln) c.3924C>A (p.His1308Gln) c.*2456G>T (n.*2456G>T) c.2059C>A c.4550G>T (n.4550G>T) c.3981C>A (p.His1327Gln) c.1423C>A c.1178-19C>A n.237-19C>A c.4059C>A (p.His1353Gln) c.4005C>A (p.His1335Gln) c.3984-19C>A (n.3984-19C>A) c.3651C>A (p.His1217Gln) c.2340C>A (p.His780Gln) | |
1 | g.11788224C= | CA1153787042 | C1orf167,MTHFR | c.3423C= (p.His1141=) c.3924C= (p.His1308=) c.*2456G= (n.*2456G=) c.2059C= c.4550G= (n.4550G=) c.3981C= (p.His1327=) c.1423C= c.1178-19C= n.237-19C= c.4059C= (p.His1353=) c.4005C= (p.His1335=) c.3984-19C= (n.3984-19C=) c.3651C= (p.His1217=) c.2340C= (p.His780=) | |
1 | g.11788224C>G | CA338470187 | C1orf167,MTHFR | c.3423C>G (p.His1141Gln) c.3924C>G (p.His1308Gln) c.*2456G>C (n.*2456G>C) c.2059C>G c.4550G>C (n.4550G>C) c.3981C>G (p.His1327Gln) c.1423C>G c.1178-19C>G n.237-19C>G c.4059C>G (p.His1353Gln) c.4005C>G (p.His1335Gln) c.3984-19C>G (n.3984-19C>G) c.3651C>G (p.His1217Gln) c.2340C>G (p.His780Gln) | |
1 | g.11788224C>T | CA595079 | C1orf167,MTHFR | c.3423C>T (p.His1141=) c.3924C>T (p.His1308=) c.*2456G>A (n.*2456G>A) c.2059C>T c.4550G>A (n.4550G>A) c.3981C>T (p.His1327=) c.1423C>T c.1178-19C>T n.237-19C>T c.4059C>T (p.His1353=) c.4005C>T (p.His1335=) c.3984-19C>T (n.3984-19C>T) c.3651C>T (p.His1217=) c.2340C>T (p.His780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788224_11788227dup | CA886036683 | C1orf167,MTHFR | c.3423_3426dup (p.Ala1143ArgfsTer?) c.3924_3927dup (p.Ala1310ArgfsTer?) c.*2453_*2456dup (n.*2453_*2456dup) c.2059_2062dup c.4547_4550dup (n.4547_4550dup) c.3981_3984dup (p.Ala1329ArgfsTer?) c.1423_1426dup c.1178-19_1178-16dup n.237-19_237-16dup c.4059_4062dup (p.Ala1355ArgfsTer?) c.4005_4008dup (p.Ala1337ArgfsTer?) c.3984-19_3984-16dup (n.3984-19_3984-16dup) c.3651_3654dup (p.Ala1219ArgfsTer?) c.2340_2343dup (p.Ala782ArgfsTer?) | dbSNP |
1 | g.11788225G>A | CA595080 | C1orf167,MTHFR | c.3424G>A (p.Asp1142Asn) c.3925G>A (p.Asp1309Asn) c.*2455C>T (n.*2455C>T) c.2060G>A c.4549C>T (n.4549C>T) c.3982G>A (p.Asp1328Asn) c.1424G>A c.1178-18G>A n.237-18G>A c.4060G>A (p.Asp1354Asn) c.4006G>A (p.Asp1336Asn) c.3984-18G>A (n.3984-18G>A) c.3652G>A (p.Asp1218Asn) c.2341G>A (p.Asp781Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.11788225G>C | CA338470189 | C1orf167,MTHFR | c.3424G>C (p.Asp1142His) c.3925G>C (p.Asp1309His) c.*2455C>G (n.*2455C>G) c.2060G>C c.4549C>G (n.4549C>G) c.3982G>C (p.Asp1328His) c.1424G>C c.1178-18G>C n.237-18G>C c.4060G>C (p.Asp1354His) c.4006G>C (p.Asp1336His) c.3984-18G>C (n.3984-18G>C) c.3652G>C (p.Asp1218His) c.2341G>C (p.Asp781His) | dbSNP |
1 | g.11788225G= | CA1153787051 | C1orf167,MTHFR | c.3424G= (p.Asp1142=) c.3925G= (p.Asp1309=) c.*2455C= (n.*2455C=) c.2060G= c.4549C= (n.4549C=) c.3982G= (p.Asp1328=) c.1424G= c.1178-18G= n.237-18G= c.4060G= (p.Asp1354=) c.4006G= (p.Asp1336=) c.3984-18G= (n.3984-18G=) c.3652G= (p.Asp1218=) c.2341G= (p.Asp781=) | |
1 | g.11788225G>T | CA338470190 | C1orf167,MTHFR | c.3424G>T (p.Asp1142Tyr) c.3925G>T (p.Asp1309Tyr) c.*2455C>A (n.*2455C>A) c.2060G>T c.4549C>A (n.4549C>A) c.3982G>T (p.Asp1328Tyr) c.1424G>T c.1178-18G>T n.237-18G>T c.4060G>T (p.Asp1354Tyr) c.4006G>T (p.Asp1336Tyr) c.3984-18G>T (n.3984-18G>T) c.3652G>T (p.Asp1218Tyr) c.2341G>T (p.Asp781Tyr) | |
1 | g.11788226A>C | CA338470191 | C1orf167,MTHFR | c.3425A>C (p.Asp1142Ala) c.3926A>C (p.Asp1309Ala) c.*2454T>G (n.*2454T>G) c.2061A>C c.4548T>G (n.4548T>G) c.3983A>C (p.Asp1328Ala) c.1425A>C c.1178-17A>C n.237-17A>C c.4061A>C (p.Asp1354Ala) c.4007A>C (p.Asp1336Ala) c.3984-17A>C (n.3984-17A>C) c.3653A>C (p.Asp1218Ala) c.2342A>C (p.Asp781Ala) | |
1 | g.11788226A>G | CA338470192 | C1orf167,MTHFR | c.3425A>G (p.Asp1142Gly) c.3926A>G (p.Asp1309Gly) c.*2454T>C (n.*2454T>C) c.2061A>G c.4548T>C (n.4548T>C) c.3983A>G (p.Asp1328Gly) c.1425A>G c.1178-17A>G n.237-17A>G c.4061A>G (p.Asp1354Gly) c.4007A>G (p.Asp1336Gly) c.3984-17A>G (n.3984-17A>G) c.3653A>G (p.Asp1218Gly) c.2342A>G (p.Asp781Gly) | |
1 | g.11788226A>T | CA338470193 | C1orf167,MTHFR | c.3425A>T (p.Asp1142Val) c.3926A>T (p.Asp1309Val) c.*2454T>A (n.*2454T>A) c.2061A>T c.4548T>A (n.4548T>A) c.3983A>T (p.Asp1328Val) c.1425A>T c.1178-17A>T n.237-17A>T c.4061A>T (p.Asp1354Val) c.4007A>T (p.Asp1336Val) c.3984-17A>T (n.3984-17A>T) c.3653A>T (p.Asp1218Val) c.2342A>T (p.Asp781Val) | |
1 | g.11788227T>A | CA338470195 | C1orf167,MTHFR | c.3426T>A (p.Asp1142Glu) c.3927T>A (p.Asp1309Glu) c.*2453A>T (n.*2453A>T) c.2062T>A c.4547A>T (n.4547A>T) c.3984T>A (p.Asp1328Glu) c.1426T>A c.1178-16T>A n.237-16T>A c.4062T>A (p.Asp1354Glu) c.4008T>A (p.Asp1336Glu) c.3984-16T>A (n.3984-16T>A) c.3654T>A (p.Asp1218Glu) c.2343T>A (p.Asp781Glu) | |
1 | g.11788227T>C | CA416361753 | C1orf167,MTHFR | c.3426T>C (p.Asp1142=) c.3927T>C (p.Asp1309=) c.*2453A>G (n.*2453A>G) c.2062T>C c.4547A>G (n.4547A>G) c.3984T>C (p.Asp1328=) c.1426T>C c.1178-16T>C n.237-16T>C c.4062T>C (p.Asp1354=) c.4008T>C (p.Asp1336=) c.3984-16T>C (n.3984-16T>C) c.3654T>C (p.Asp1218=) c.2343T>C (p.Asp781=) | |
1 | g.11788227T>G | CA338470194 | C1orf167,MTHFR | c.3426T>G (p.Asp1142Glu) c.3927T>G (p.Asp1309Glu) c.*2453A>C (n.*2453A>C) c.2062T>G c.4547A>C (n.4547A>C) c.3984T>G (p.Asp1328Glu) c.1426T>G c.1178-16T>G n.237-16T>G c.4062T>G (p.Asp1354Glu) c.4008T>G (p.Asp1336Glu) c.3984-16T>G (n.3984-16T>G) c.3654T>G (p.Asp1218Glu) c.2343T>G (p.Asp781Glu) | |
1 | g.11788228G>A | CA338470196 | C1orf167,MTHFR | c.3427G>A (p.Ala1143Thr) c.3928G>A (p.Ala1310Thr) c.*2452C>T (n.*2452C>T) c.2063G>A c.4546C>T (n.4546C>T) c.3985G>A (p.Ala1329Thr) c.1427G>A c.1178-15G>A n.237-15G>A c.4063G>A (p.Ala1355Thr) c.4009G>A (p.Ala1337Thr) c.3984-15G>A (n.3984-15G>A) c.3655G>A (p.Ala1219Thr) c.2344G>A (p.Ala782Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788228G>C | CA338470197 | C1orf167,MTHFR | c.3427G>C (p.Ala1143Pro) c.3928G>C (p.Ala1310Pro) c.*2452C>G (n.*2452C>G) c.2063G>C c.4546C>G (n.4546C>G) c.3985G>C (p.Ala1329Pro) c.1427G>C c.1178-15G>C n.237-15G>C c.4063G>C (p.Ala1355Pro) c.4009G>C (p.Ala1337Pro) c.3984-15G>C (n.3984-15G>C) c.3655G>C (p.Ala1219Pro) c.2344G>C (p.Ala782Pro) | |
1 | g.11788228G= | CA1153787058 | C1orf167,MTHFR | c.3427G= (p.Ala1143=) c.3928G= (p.Ala1310=) c.*2452C= (n.*2452C=) c.2063G= c.4546C= (n.4546C=) c.3985G= (p.Ala1329=) c.1427G= c.1178-15G= n.237-15G= c.4063G= (p.Ala1355=) c.4009G= (p.Ala1337=) c.3984-15G= (n.3984-15G=) c.3655G= (p.Ala1219=) c.2344G= (p.Ala782=) | |
1 | g.11788228G>T | CA338470198 | C1orf167,MTHFR | c.3427G>T (p.Ala1143Ser) c.3928G>T (p.Ala1310Ser) c.*2452C>A (n.*2452C>A) c.2063G>T c.4546C>A (n.4546C>A) c.3985G>T (p.Ala1329Ser) c.1427G>T c.1178-15G>T n.237-15G>T c.4063G>T (p.Ala1355Ser) c.4009G>T (p.Ala1337Ser) c.3984-15G>T (n.3984-15G>T) c.3655G>T (p.Ala1219Ser) c.2344G>T (p.Ala782Ser) | |
1 | g.11788229C>A | CA338470199 | C1orf167,MTHFR | c.3428C>A (p.Ala1143Asp) c.3929C>A (p.Ala1310Asp) c.*2451G>T (n.*2451G>T) c.2064C>A c.4545G>T (n.4545G>T) c.3986C>A (p.Ala1329Asp) c.1428C>A c.1178-14C>A n.237-14C>A c.4064C>A (p.Ala1355Asp) c.4010C>A (p.Ala1337Asp) c.3984-14C>A (n.3984-14C>A) c.3656C>A (p.Ala1219Asp) c.2345C>A (p.Ala782Asp) | gnomAD v4 |
1 | g.11788229C= | CA1153787062 | C1orf167,MTHFR | c.3428C= (p.Ala1143=) c.3929C= (p.Ala1310=) c.*2451G= (n.*2451G=) c.2064C= c.4545G= (n.4545G=) c.3986C= (p.Ala1329=) c.1428C= c.1178-14C= n.237-14C= c.4064C= (p.Ala1355=) c.4010C= (p.Ala1337=) c.3984-14C= (n.3984-14C=) c.3656C= (p.Ala1219=) c.2345C= (p.Ala782=) | |
1 | g.11788229C>G | CA338470200 | C1orf167,MTHFR | c.3428C>G (p.Ala1143Gly) c.3929C>G (p.Ala1310Gly) c.*2451G>C (n.*2451G>C) c.2064C>G c.4545G>C (n.4545G>C) c.3986C>G (p.Ala1329Gly) c.1428C>G c.1178-14C>G n.237-14C>G c.4064C>G (p.Ala1355Gly) c.4010C>G (p.Ala1337Gly) c.3984-14C>G (n.3984-14C>G) c.3656C>G (p.Ala1219Gly) c.2345C>G (p.Ala782Gly) | |
1 | g.11788229C>T | CA338470201 | C1orf167,MTHFR | c.3428C>T (p.Ala1143Val) c.3929C>T (p.Ala1310Val) c.*2451G>A (n.*2451G>A) c.2064C>T c.4545G>A (n.4545G>A) c.3986C>T (p.Ala1329Val) c.1428C>T c.1178-14C>T n.237-14C>T c.4064C>T (p.Ala1355Val) c.4010C>T (p.Ala1337Val) c.3984-14C>T (n.3984-14C>T) c.3656C>T (p.Ala1219Val) c.2345C>T (p.Ala782Val) | dbSNP gnomAD v2 |
1 | g.11788230T>A | CA416361754 | C1orf167,MTHFR | c.3429T>A (p.Ala1143=) c.3930T>A (p.Ala1310=) c.*2450A>T (n.*2450A>T) c.2065T>A c.4544A>T (n.4544A>T) c.3987T>A (p.Ala1329=) c.1429T>A c.1178-13T>A n.237-13T>A c.4065T>A (p.Ala1355=) c.4011T>A (p.Ala1337=) c.3984-13T>A (n.3984-13T>A) c.3657T>A (p.Ala1219=) c.2346T>A (p.Ala782=) | |
1 | g.11788230T>C | CA416361755 | C1orf167,MTHFR | c.3429T>C (p.Ala1143=) c.3930T>C (p.Ala1310=) c.*2450A>G (n.*2450A>G) c.2065T>C c.4544A>G (n.4544A>G) c.3987T>C (p.Ala1329=) c.1429T>C c.1178-13T>C n.237-13T>C c.4065T>C (p.Ala1355=) c.4011T>C (p.Ala1337=) c.3984-13T>C (n.3984-13T>C) c.3657T>C (p.Ala1219=) c.2346T>C (p.Ala782=) | |
1 | g.11788230T>G | CA416361756 | C1orf167,MTHFR | c.3429T>G (p.Ala1143=) c.3930T>G (p.Ala1310=) c.*2450A>C (n.*2450A>C) c.2065T>G c.4544A>C (n.4544A>C) c.3987T>G (p.Ala1329=) c.1429T>G c.1178-13T>G n.237-13T>G c.4065T>G (p.Ala1355=) c.4011T>G (p.Ala1337=) c.3984-13T>G (n.3984-13T>G) c.3657T>G (p.Ala1219=) c.2346T>G (p.Ala782=) | |
1 | g.11788231C>A | CA338470202 | C1orf167,MTHFR | c.3430C>A (p.Leu1144Ile) c.3931C>A (p.Leu1311Ile) c.*2449G>T (n.*2449G>T) c.2066C>A c.4543G>T (n.4543G>T) c.3988C>A (p.Leu1330Ile) c.1430C>A c.1178-12C>A n.237-12C>A c.4066C>A (p.Leu1356Ile) c.4012C>A (p.Leu1338Ile) c.3984-12C>A (n.3984-12C>A) c.3658C>A (p.Leu1220Ile) c.2347C>A (p.Leu783Ile) | |
1 | g.11788231C>G | CA338470204 | C1orf167,MTHFR | c.3430C>G (p.Leu1144Val) c.3931C>G (p.Leu1311Val) c.*2449G>C (n.*2449G>C) c.2066C>G c.4543G>C (n.4543G>C) c.3988C>G (p.Leu1330Val) c.1430C>G c.1178-12C>G n.237-12C>G c.4066C>G (p.Leu1356Val) c.4012C>G (p.Leu1338Val) c.3984-12C>G (n.3984-12C>G) c.3658C>G (p.Leu1220Val) c.2347C>G (p.Leu783Val) | |
1 | g.11788231C>T | CA338470203 | C1orf167,MTHFR | c.3430C>T (p.Leu1144Phe) c.3931C>T (p.Leu1311Phe) c.*2449G>A (n.*2449G>A) c.2066C>T c.4543G>A (n.4543G>A) c.3988C>T (p.Leu1330Phe) c.1430C>T c.1178-12C>T n.237-12C>T c.4066C>T (p.Leu1356Phe) c.4012C>T (p.Leu1338Phe) c.3984-12C>T (n.3984-12C>T) c.3658C>T (p.Leu1220Phe) c.2347C>T (p.Leu783Phe) | |
1 | g.11788232T>A | CA338470205 | C1orf167,MTHFR | c.3431T>A (p.Leu1144His) c.3932T>A (p.Leu1311His) c.*2448A>T (n.*2448A>T) c.2067T>A c.4542A>T (n.4542A>T) c.3989T>A (p.Leu1330His) c.1431T>A c.1178-11T>A n.237-11T>A c.4067T>A (p.Leu1356His) c.4013T>A (p.Leu1338His) c.3984-11T>A (n.3984-11T>A) c.3659T>A (p.Leu1220His) c.2348T>A (p.Leu783His) | |
1 | g.11788232T>C | CA338470206 | C1orf167,MTHFR | c.3431T>C (p.Leu1144Pro) c.3932T>C (p.Leu1311Pro) c.*2448A>G (n.*2448A>G) c.2067T>C c.4542A>G (n.4542A>G) c.3989T>C (p.Leu1330Pro) c.1431T>C c.1178-11T>C n.237-11T>C c.4067T>C (p.Leu1356Pro) c.4013T>C (p.Leu1338Pro) c.3984-11T>C (n.3984-11T>C) c.3659T>C (p.Leu1220Pro) c.2348T>C (p.Leu783Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.11788232T>G | CA338470207 | C1orf167,MTHFR | c.3431T>G (p.Leu1144Arg) c.3932T>G (p.Leu1311Arg) c.*2448A>C (n.*2448A>C) c.2067T>G c.4542A>C (n.4542A>C) c.3989T>G (p.Leu1330Arg) c.1431T>G c.1178-11T>G n.237-11T>G c.4067T>G (p.Leu1356Arg) c.4013T>G (p.Leu1338Arg) c.3984-11T>G (n.3984-11T>G) c.3659T>G (p.Leu1220Arg) c.2348T>G (p.Leu783Arg) | |
1 | g.11788232T= | CA1153787068 | C1orf167,MTHFR | c.3431T= (p.Leu1144=) c.3932T= (p.Leu1311=) c.*2448A= (n.*2448A=) c.2067T= c.4542A= (n.4542A=) c.3989T= (p.Leu1330=) c.1431T= c.1178-11T= n.237-11T= c.4067T= (p.Leu1356=) c.4013T= (p.Leu1338=) c.3984-11T= (n.3984-11T=) c.3659T= (p.Leu1220=) c.2348T= (p.Leu783=) | |
1 | g.11788233T>A | CA416361757 | C1orf167,MTHFR | c.3432T>A (p.Leu1144=) c.3933T>A (p.Leu1311=) c.*2447A>T (n.*2447A>T) c.2068T>A c.4541A>T (n.4541A>T) c.3990T>A (p.Leu1330=) c.1432T>A c.1178-10T>A n.237-10T>A c.4068T>A (p.Leu1356=) c.4014T>A (p.Leu1338=) c.3984-10T>A (n.3984-10T>A) c.3660T>A (p.Leu1220=) c.2349T>A (p.Leu783=) | |
1 | g.11788233T>C | CA416361758 | C1orf167,MTHFR | c.3432T>C (p.Leu1144=) c.3933T>C (p.Leu1311=) c.*2447A>G (n.*2447A>G) c.2068T>C c.4541A>G (n.4541A>G) c.3990T>C (p.Leu1330=) c.1432T>C c.1178-10T>C n.237-10T>C c.4068T>C (p.Leu1356=) c.4014T>C (p.Leu1338=) c.3984-10T>C (n.3984-10T>C) c.3660T>C (p.Leu1220=) c.2349T>C (p.Leu783=) | gnomAD v4 |
1 | g.11788233T>G | CA416361759 | C1orf167,MTHFR | c.3432T>G (p.Leu1144=) c.3933T>G (p.Leu1311=) c.*2447A>C (n.*2447A>C) c.2068T>G c.4541A>C (n.4541A>C) c.3990T>G (p.Leu1330=) c.1432T>G c.1178-10T>G n.237-10T>G c.4068T>G (p.Leu1356=) c.4014T>G (p.Leu1338=) c.3984-10T>G (n.3984-10T>G) c.3660T>G (p.Leu1220=) c.2349T>G (p.Leu783=) | |
1 | g.11788234G>A | CA338470208 | C1orf167,MTHFR | c.3433G>A (p.Gly1145Ser) c.3934G>A (p.Gly1312Ser) c.*2446C>T (n.*2446C>T) c.2069G>A c.4540C>T (n.4540C>T) c.3991G>A (p.Gly1331Ser) c.1433G>A c.1178-9G>A n.237-9G>A c.4069G>A (p.Gly1357Ser) c.4015G>A (p.Gly1339Ser) c.3984-9G>A (n.3984-9G>A) c.3661G>A (p.Gly1221Ser) c.2350G>A (p.Gly784Ser) | |
1 | g.11788234G>C | CA338470209 | C1orf167,MTHFR | c.3433G>C (p.Gly1145Arg) c.3934G>C (p.Gly1312Arg) c.*2446C>G (n.*2446C>G) c.2069G>C c.4540C>G (n.4540C>G) c.3991G>C (p.Gly1331Arg) c.1433G>C c.1178-9G>C n.237-9G>C c.4069G>C (p.Gly1357Arg) c.4015G>C (p.Gly1339Arg) c.3984-9G>C (n.3984-9G>C) c.3661G>C (p.Gly1221Arg) c.2350G>C (p.Gly784Arg) | |
1 | g.11788234G>T | CA338470210 | C1orf167,MTHFR | c.3433G>T (p.Gly1145Cys) c.3934G>T (p.Gly1312Cys) c.*2446C>A (n.*2446C>A) c.2069G>T c.4540C>A (n.4540C>A) c.3991G>T (p.Gly1331Cys) c.1433G>T c.1178-9G>T n.237-9G>T c.4069G>T (p.Gly1357Cys) c.4015G>T (p.Gly1339Cys) c.3984-9G>T (n.3984-9G>T) c.3661G>T (p.Gly1221Cys) c.2350G>T (p.Gly784Cys) | |
1 | g.11788235G>A | CA17996242 | C1orf167,MTHFR | c.3434G>A (p.Gly1145Asp) c.3935G>A (p.Gly1312Asp) c.*2445C>T (n.*2445C>T) c.2070G>A c.4539C>T (n.4539C>T) c.3992G>A (p.Gly1331Asp) c.1434G>A c.1178-8G>A n.237-8G>A c.4070G>A (p.Gly1357Asp) c.4016G>A (p.Gly1339Asp) c.3984-8G>A (n.3984-8G>A) c.3662G>A (p.Gly1221Asp) c.2351G>A (p.Gly784Asp) | dbSNP |
1 | g.11788235G>C | CA338470211 | C1orf167,MTHFR | c.3434G>C (p.Gly1145Ala) c.3935G>C (p.Gly1312Ala) c.*2445C>G (n.*2445C>G) c.2070G>C c.4539C>G (n.4539C>G) c.3992G>C (p.Gly1331Ala) c.1434G>C c.1178-8G>C n.237-8G>C c.4070G>C (p.Gly1357Ala) c.4016G>C (p.Gly1339Ala) c.3984-8G>C (n.3984-8G>C) c.3662G>C (p.Gly1221Ala) c.2351G>C (p.Gly784Ala) | |
1 | g.11788235G= | CA1153787119 | C1orf167,MTHFR | c.3434G= (p.Gly1145=) c.3935G= (p.Gly1312=) c.*2445C= (n.*2445C=) c.2070G= c.4539C= (n.4539C=) c.3992G= (p.Gly1331=) c.1434G= c.1178-8G= n.237-8G= c.4070G= (p.Gly1357=) c.4016G= (p.Gly1339=) c.3984-8G= (n.3984-8G=) c.3662G= (p.Gly1221=) c.2351G= (p.Gly784=) | |
1 | g.11788235G>T | CA338470212 | C1orf167,MTHFR | c.3434G>T (p.Gly1145Val) c.3935G>T (p.Gly1312Val) c.*2445C>A (n.*2445C>A) c.2070G>T c.4539C>A (n.4539C>A) c.3992G>T (p.Gly1331Val) c.1434G>T c.1178-8G>T n.237-8G>T c.4070G>T (p.Gly1357Val) c.4016G>T (p.Gly1339Val) c.3984-8G>T (n.3984-8G>T) c.3662G>T (p.Gly1221Val) c.2351G>T (p.Gly784Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.11788236C>A | CA416361762 | C1orf167,MTHFR | c.3435C>A (p.Gly1145=) c.3936C>A (p.Gly1312=) c.*2444G>T (n.*2444G>T) c.2071C>A c.4538G>T (n.4538G>T) c.3993C>A (p.Gly1331=) c.1435C>A c.1178-7C>A n.237-7C>A c.4071C>A (p.Gly1357=) c.4017C>A (p.Gly1339=) c.3984-7C>A (n.3984-7C>A) c.3663C>A (p.Gly1221=) c.2352C>A (p.Gly784=) | |
1 | g.11788236C= | CA1146363382 | C1orf167,MTHFR | c.3435C= (p.Gly1145=) c.3936C= (p.Gly1312=) c.*2444G= (n.*2444G=) c.2071C= c.4538G= (n.4538G=) c.3993C= (p.Gly1331=) c.1435C= c.1178-7C= n.237-7C= c.4071C= (p.Gly1357=) c.4017C= (p.Gly1339=) c.3984-7C= (n.3984-7C=) c.3663C= (p.Gly1221=) c.2352C= (p.Gly784=) | |
1 | g.11788236C>G | CA595081 | C1orf167,MTHFR | c.3435C>G (p.Gly1145=) c.3936C>G (p.Gly1312=) c.*2444G>C (n.*2444G>C) c.2071C>G c.4538G>C (n.4538G>C) c.3993C>G (p.Gly1331=) c.1435C>G c.1178-7C>G n.237-7C>G c.4071C>G (p.Gly1357=) c.4017C>G (p.Gly1339=) c.3984-7C>G (n.3984-7C>G) c.3663C>G (p.Gly1221=) c.2352C>G (p.Gly784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788236C>T | CA416361763 | C1orf167,MTHFR | c.3435C>T (p.Gly1145=) c.3936C>T (p.Gly1312=) c.*2444G>A (n.*2444G>A) c.2071C>T c.4538G>A (n.4538G>A) c.3993C>T (p.Gly1331=) c.1435C>T c.1178-7C>T n.237-7C>T c.4071C>T (p.Gly1357=) c.4017C>T (p.Gly1339=) c.3984-7C>T (n.3984-7C>T) c.3663C>T (p.Gly1221=) c.2352C>T (p.Gly784=) | gnomAD v4 |
1 | g.11788237C>A | CA338470215 | C1orf167,MTHFR | c.3436C>A (p.His1146Asn) c.3937C>A (p.His1313Asn) c.*2443G>T (n.*2443G>T) c.2072C>A c.4537G>T (n.4537G>T) c.3994C>A (p.His1332Asn) c.1436C>A c.1178-6C>A n.237-6C>A c.4072C>A (p.His1358Asn) c.4018C>A (p.His1340Asn) c.3984-6C>A (n.3984-6C>A) c.3664C>A (p.His1222Asn) c.2353C>A (p.His785Asn) | gnomAD v4 |
1 | g.11788237C>G | CA338470214 | C1orf167,MTHFR | c.3436C>G (p.His1146Asp) c.3937C>G (p.His1313Asp) c.*2443G>C (n.*2443G>C) c.2072C>G c.4537G>C (n.4537G>C) c.3994C>G (p.His1332Asp) c.1436C>G c.1178-6C>G n.237-6C>G c.4072C>G (p.His1358Asp) c.4018C>G (p.His1340Asp) c.3984-6C>G (n.3984-6C>G) c.3664C>G (p.His1222Asp) c.2353C>G (p.His785Asp) | |
1 | g.11788237C>T | CA338470213 | C1orf167,MTHFR | c.3436C>T (p.His1146Tyr) c.3937C>T (p.His1313Tyr) c.*2443G>A (n.*2443G>A) c.2072C>T c.4537G>A (n.4537G>A) c.3994C>T (p.His1332Tyr) c.1436C>T c.1178-6C>T n.237-6C>T c.4072C>T (p.His1358Tyr) c.4018C>T (p.His1340Tyr) c.3984-6C>T (n.3984-6C>T) c.3664C>T (p.His1222Tyr) c.2353C>T (p.His785Tyr) | |
1 | g.11788238A= | CA1153787128 | C1orf167,MTHFR | c.3437A= (p.His1146=) c.3938A= (p.His1313=) c.*2442T= (n.*2442T=) c.2073A= c.4536T= (n.4536T=) c.3995A= (p.His1332=) c.1437A= c.1178-5A= n.237-5A= c.4073A= (p.His1358=) c.4019A= (p.His1340=) c.3984-5A= (n.3984-5A=) c.3665A= (p.His1222=) c.2354A= (p.His785=) | |
1 | g.11788238A>C | CA338470216 | C1orf167,MTHFR | c.3437A>C (p.His1146Pro) c.3938A>C (p.His1313Pro) c.*2442T>G (n.*2442T>G) c.2073A>C c.4536T>G (n.4536T>G) c.3995A>C (p.His1332Pro) c.1437A>C c.1178-5A>C n.237-5A>C c.4073A>C (p.His1358Pro) c.4019A>C (p.His1340Pro) c.3984-5A>C (n.3984-5A>C) c.3665A>C (p.His1222Pro) c.2354A>C (p.His785Pro) | |
1 | g.11788238A>G | CA338470218 | C1orf167,MTHFR | c.3437A>G (p.His1146Arg) c.3938A>G (p.His1313Arg) c.*2442T>C (n.*2442T>C) c.2073A>G c.4536T>C (n.4536T>C) c.3995A>G (p.His1332Arg) c.1437A>G c.1178-5A>G n.237-5A>G c.4073A>G (p.His1358Arg) c.4019A>G (p.His1340Arg) c.3984-5A>G (n.3984-5A>G) c.3665A>G (p.His1222Arg) c.2354A>G (p.His785Arg) | |
1 | g.11788238A>T | CA338470217 | C1orf167,MTHFR | c.3437A>T (p.His1146Leu) c.3938A>T (p.His1313Leu) c.*2442T>A (n.*2442T>A) c.2073A>T c.4536T>A (n.4536T>A) c.3995A>T (p.His1332Leu) c.1437A>T c.1178-5A>T n.237-5A>T c.4073A>T (p.His1358Leu) c.4019A>T (p.His1340Leu) c.3984-5A>T (n.3984-5A>T) c.3665A>T (p.His1222Leu) c.2354A>T (p.His785Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.11788239T>A | CA338470219 | C1orf167,MTHFR | c.3438T>A (p.His1146Gln) c.3939T>A (p.His1313Gln) c.*2441A>T (n.*2441A>T) c.2074T>A c.4535A>T (n.4535A>T) c.3996T>A (p.His1332Gln) c.1438T>A c.1178-4T>A n.237-4T>A c.4074T>A (p.His1358Gln) c.4020T>A (p.His1340Gln) c.3984-4T>A (n.3984-4T>A) c.3666T>A (p.His1222Gln) c.2355T>A (p.His785Gln) | |
1 | g.11788239T>C | CA416361767 | C1orf167,MTHFR | c.3438T>C (p.His1146=) c.3939T>C (p.His1313=) c.*2441A>G (n.*2441A>G) c.2074T>C c.4535A>G (n.4535A>G) c.3996T>C (p.His1332=) c.1438T>C c.1178-4T>C n.237-4T>C c.4074T>C (p.His1358=) c.4020T>C (p.His1340=) c.3984-4T>C (n.3984-4T>C) c.3666T>C (p.His1222=) c.2355T>C (p.His785=) | |
1 | g.11788239T>G | CA338470220 | C1orf167,MTHFR | c.3438T>G (p.His1146Gln) c.3939T>G (p.His1313Gln) c.*2441A>C (n.*2441A>C) c.2074T>G c.4535A>C (n.4535A>C) c.3996T>G (p.His1332Gln) c.1438T>G c.1178-4T>G n.237-4T>G c.4074T>G (p.His1358Gln) c.4020T>G (p.His1340Gln) c.3984-4T>G (n.3984-4T>G) c.3666T>G (p.His1222Gln) c.2355T>G (p.His785Gln) | dbSNP |
1 | g.11788239T= | CA1153787134 | C1orf167,MTHFR | c.3438T= (p.His1146=) c.3939T= (p.His1313=) c.*2441A= (n.*2441A=) c.2074T= c.4535A= (n.4535A=) c.3996T= (p.His1332=) c.1438T= c.1178-4T= n.237-4T= c.4074T= (p.His1358=) c.4020T= (p.His1340=) c.3984-4T= (n.3984-4T=) c.3666T= (p.His1222=) c.2355T= (p.His785=) |