Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5224303_5227790del | CA2499220996 | ClinVar | ||
11 | g.5225158_5227199delinsCTTAT | CA916083168 | ClinVar | ||
11 | g.5225895_5227411delinsT | CA916083175 | ClinVar | ||
11 | g.5226164_5227556del | CA916083178 | ClinVar | ||
11 | g.5226452_5228055del | CA916083180 | ClinVar | ||
11 | g.5226570_5233984del | CA124670 | ClinVar | ||
11 | g.5226638_5234052del | CA124669 | ClinVar | ||
11 | g.5226641_5227549del | CA916083189 | HBB | c.-56_251del | ClinVar |
11 | g.5226755_5227283del | CA2499221076 | HBB | c.-19+234_142del | ClinVar |
11 | g.5226800_5226991del | CA2695213056 | HBB | c.33_94del n.84_145del c.33_78del | |
11 | g.5226904_5227197delinsACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCG | CA1949570069 | HBB | c.-176_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT c.-18-158_92+26delinsCGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGTTGGTATCAAGGTTACAAGACAGGT | |
11 | g.5226905_5227197del | CA891862904 | HBB | c.-176_92+25del c.-18-158_92+25del | ClinVar dbSNP |
11 | g.5226914_5234326del | CA124673 | ClinVar | ||
11 | g.5226929_5227071delinsCCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGT | CA1949570216 | HBB | c.-50_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-18-32_92+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG n.2_143+1delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG c.-50_76+17delinsACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGG | |
11 | g.5226930_5227071del | CA1139661798 | HBB | c.-50_92del c.-18-32_92del n.2_143del c.-50_76+16del | ClinVar dbSNP |
11 | g.5226947_5227485delinsACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGGTGTGGCTCCACAGGGTGAGGTCTAAGTGATGACAGCCGTACCTGTCCTTGGCTCTTCTGGCACTGGCTTAGGAGTTGGACTTCAAACCCTCAGCCCTCCCTCTAAGATATATCTCTTGGCCCCATACCATCAGTACAAATTGCTACTAAAAACATCCTCCTTTGCAAGTGTATTTACGTAATATTTGGAATCACAGCTTGGTAAGCATATTGAAGATCGTTTTCCCAATTTTCTTATTACACAAATAAGAAGTTGATGCACTAAAAGTGGAAGAGTTTTGTCTACCATAATTCAGCTTTGGGATATGTAGATGGATCTCTTCCTGC | CA1949570429 | HBB | c.-19+27_75delinsGCAGGAAGAGATCCATCTACATATCCCAAAGCTGAATTATGGTAGACAAAACTCTTCCACTTTTAGTGCATCAACTTCTTATTTGTGTAATAAGAAAATTGGGAAAACGATCTTCAATATGCTTACCAAGCTGTGATTCCAAATATTACGTAAATACACTTGCAAAGGAGGATGTTTTTAGTAGCAATTTGTACTGATGGTATGGGGCCAAGAGATATATCTTAGAGGGAGGGCTGAGGGTTTGAAGTCCAACTCCTAAGCCAGTGCCAGAAGAGCCAAGGACAGGTACGGCTGTCATCACTTAGACCTCACCCTGTGGAGCCACACCCTAGGGTTGGCCAATCTACTCCCAGGAGCAGGGAGGGCAGGAGCCAGGGCTGGGCATAAAAGTCAGGGCAGAGCCATCTATTGCTTACATTTGCTTCTGACACAACTGTGTTCACTAGCAACCTCAAACAGACACCATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGT | |
11 | g.5226948_5227485del | CA916083211 | HBB | c.-19+27_74del | ClinVar dbSNP |
11 | g.5226976_5227002delinsACAGGGCAGTAACGGCAGACTTCTCCT | CA1949570725 | HBB | c.20_46delinsAGGAGAAGTCTGCCGTTACTGCCCTGT (p.Glu7=) n.71_97delinsAGGAGAAGTCTGCCGTTACTGCCCTGT | |
11 | g.5226981_5227006del | CA916083214 | HBB | c.20_45del (p.Glu7ValfsTer8) n.71_96del | ClinVar dbSNP |
11 | g.5226981del | CA2695213068 | HBB | c.43del (p.Leu15CysfsTer5) n.94del | |
11 | g.5226985_5226993del | CA2695213069 | HBB | c.34_42del (p.Val12_Ala14del) n.85_93del | |
11 | g.5226981G>A | CA379274902 | HBB | c.41C>T (p.Ala14Val) n.92C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5226981G>C | CA379274904 | HBB | c.41C>G (p.Ala14Gly) n.92C>G | dbSNP |
11 | g.5226981G= | CA1949570780 | HBB | c.41C= (p.Ala14=) n.92C= | |
11 | g.5226981G>T | CA124955 | HBB | c.41C>A (p.Ala14Asp) n.92C>A | ClinVar dbSNP COSMIC |
11 | g.5226982C>A | CA5839817 | HBB | c.40G>T (p.Ala14Ser) n.91G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.5226982C= | CA1949570791 | HBB | c.40G= (p.Ala14=) n.91G= | |
11 | g.5226982C>G | CA379274907 | HBB | c.40G>C (p.Ala14Pro) n.91G>C | |
11 | g.5226982C>T | CA379274909 | HBB | c.40G>A (p.Ala14Thr) n.91G>A | ClinVar dbSNP |
11 | g.5226983A= | CA1949570801 | HBB | c.39T= (p.Thr13=) n.90T= | |
11 | g.5226983A>C | CA472885866 | HBB | c.39T>G (p.Thr13=) n.90T>G | |
11 | g.5226983A>G | CA472885867 | HBB | c.39T>C (p.Thr13=) n.90T>C | ClinVar dbSNP |
11 | g.5226983A>T | CA472885868 | HBB | c.39T>A (p.Thr13=) n.90T>A | |
11 | g.5226983_5226984insAG | CA2612162294 | HBB | c.38_39insCT (p.Ala14LeufsTer7) n.89_90insCT | gnomAD v4 |
11 | g.5226984G>A | CA379274915 | HBB | c.38C>T (p.Thr13Ile) n.89C>T | gnomAD v4 |
11 | g.5226984G>C | CA379274912 | HBB | c.38C>G (p.Thr13Ser) n.89C>G | |
11 | g.5226984G= | CA1949570813 | HBB | c.38C= (p.Thr13=) n.89C= | |
11 | g.5226984G>T | CA379274911 | HBB | c.38C>A (p.Thr13Asn) n.89C>A | dbSNP |
11 | g.5226985T>A | CA379274917 | HBB | c.37A>T (p.Thr13Ser) n.88A>T | dbSNP |
11 | g.5226985T>C | CA379274919 | HBB | c.37A>G (p.Thr13Ala) n.88A>G | |
11 | g.5226985T>G | CA379274921 | HBB | c.37A>C (p.Thr13Pro) n.88A>C | |
11 | g.5226985T= | CA1949570820 | HBB | c.37A= (p.Thr13=) n.88A= | |
11 | g.5226985_5226986delinsTA | CA1949570822 | HBB | c.36_37delinsTA (p.Val12=) n.87_88delinsTA | |
11 | g.5226986A>C | CA472885708 | HBB | c.36T>G (p.Val12=) n.87T>G | |
11 | g.5226986A>G | CA472885709 | HBB | c.36T>C (p.Val12=) n.87T>C | gnomAD v3 gnomAD v4 |
11 | g.5226986A>T | CA472885710 | HBB | c.36T>A (p.Val12=) n.87T>A | |
11 | g.5226987del | CA125289 | HBB | c.36del (p.Thr13LeufsTer7) n.87del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5226987A= | CA1949570832 | HBB | c.35T= (p.Val12=) n.86T= | |
11 | g.5226987A>C | CA379274924 | HBB | c.35T>G (p.Val12Gly) n.86T>G | |
11 | g.5226987A>G | CA379274926 | HBB | c.35T>C (p.Val12Ala) n.86T>C |