Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC | CA2077140484 | GJB2 | c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC (p.Gly11=) | |
13 | g.20189514_20189551del | CA261644 | GJB2 | c.31_68del (p.Gly11LeufsTer24) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189520_20189530del | CA2499221956 | GJB2 | c.53_63del (p.Thr18LysfsTer26) | ClinVar dbSNP |
13 | g.20189519_20189531delinsTCCAATGCTGGTG | CA2077140504 | GJB2 | c.51_63delinsCACCAGCATTGGA (p.Ser17=) | |
13 | g.20189520_20189523del | CA2622252307 | GJB2 | c.59_62del (p.Ile20LysfsTer14) | gnomAD v4 |
13 | g.20189520_20189531delinsT | CA10575530 | GJB2 | c.51_62delinsA (p.Thr18LysfsTer26) | ClinVar dbSNP |
13 | g.20189523A= | CA2077140519 | GJB2 | c.59T= (p.Ile20=) | |
13 | g.20189523A>C | CA387462131 | GJB2 | c.59T>G (p.Ile20Ser) | |
13 | g.20189523A>G | CA16041595 | GJB2 | c.59T>C (p.Ile20Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.20189523A>T | CA387462132 | GJB2 | c.59T>A (p.Ile20Asn) | |
13 | g.20189524T>A | CA387462133 | GJB2 | c.58A>T (p.Ile20Phe) | |
13 | g.20189524T>C | CA387462135 | GJB2 | c.58A>G (p.Ile20Val) | |
13 | g.20189524T>G | CA387462136 | GJB2 | c.58A>C (p.Ile20Leu) | |
13 | g.20189525G>A | CA483154029 | GJB2 | c.57C>T (p.Ser19=) | dbSNP |
13 | g.20189525G>C | CA387462138 | GJB2 | c.57C>G (p.Ser19Arg) | |
13 | g.20189525G= | CA2077140521 | GJB2 | c.57C= (p.Ser19=) | |
13 | g.20189525G>T | CA387462140 | GJB2 | c.57C>A (p.Ser19Arg) | |
13 | g.20189526_20189532del | CA2622252308 | GJB2 | c.51_57del (p.Thr18LeufsTer15) | gnomAD v4 |
13 | g.20189526C>A | CA6904327 | GJB2 | c.56G>T (p.Ser19Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189526C= | CA2077140524 | GJB2 | c.56G= (p.Ser19=) | |
13 | g.20189526C>G | CA342005 | GJB2 | c.56G>C (p.Ser19Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20189526C>T | CA387462144 | GJB2 | c.56G>A (p.Ser19Asn) | |
13 | g.20189527T>A | CA387462145 | GJB2 | c.55A>T (p.Ser19Cys) | |
13 | g.20189527T>C | CA387462146 | GJB2 | c.55A>G (p.Ser19Gly) | |
13 | g.20189527T>G | CA387462147 | GJB2 | c.55A>C (p.Ser19Arg) | |
13 | g.20189528G>A | CA483154032 | GJB2 | c.54C>T (p.Thr18=) | |
13 | g.20189528G>C | CA483154031 | GJB2 | c.54C>G (p.Thr18=) | gnomAD v4 |
13 | g.20189528G>T | CA483154030 | GJB2 | c.54C>A (p.Thr18=) | |
13 | g.20189529G>A | CA387462151 | GJB2 | c.53C>T (p.Thr18Ile) | |
13 | g.20189529G>C | CA387462150 | GJB2 | c.53C>G (p.Thr18Ser) | ClinVar dbSNP |
13 | g.20189529G= | CA2077140530 | GJB2 | c.53C= (p.Thr18=) | |
13 | g.20189529G>T | CA387462149 | GJB2 | c.53C>A (p.Thr18Asn) | |
13 | g.20189530T>A | CA387462153 | GJB2 | c.52A>T (p.Thr18Ser) | |
13 | g.20189530T>C | CA387462155 | GJB2 | c.52A>G (p.Thr18Ala) | |
13 | g.20189530T>G | CA387462157 | GJB2 | c.52A>C (p.Thr18Pro) | |
13 | g.20189531G>A | CA483154033 | GJB2 | c.51C>T (p.Ser17=) | ClinVar dbSNP |
13 | g.20189531G>C | CA483154034 | GJB2 | c.51C>G (p.Ser17=) | |
13 | g.20189531G= | CA2077140533 | GJB2 | c.51C= (p.Ser17=) | |
13 | g.20189531G>T | CA483154035 | GJB2 | c.51C>A (p.Ser17=) | ClinVar dbSNP |
13 | g.20189531_20189533delinsGGA | CA2077140535 | GJB2 | c.49_51delinsTCC (p.Ser17=) | |
13 | g.20189532_20189534del | CA912980100 | GJB2 | c.49_51del (p.Ser17del) | |
13 | g.20189532G>A | CA127029 | GJB2 | c.50C>T (p.Ser17Phe) | ClinVar dbSNP |
13 | g.20189532G>C | CA185218 | GJB2 | c.50C>G (p.Ser17Cys) | ClinVar dbSNP |
13 | g.20189532G= | CA2077140543 | GJB2 | c.50C= (p.Ser17=) | |
13 | g.20189532G>T | CA387462161 | GJB2 | c.50C>A (p.Ser17Tyr) | |
13 | g.20189533_20189534del | CA658823500 | GJB2 | c.49_50del (p.Ser17HisfsTer30) | ClinVar dbSNP |
13 | g.20189533_20189536del | CA2622252310 | GJB2 | c.47_50del (p.His16ProfsTer18) | gnomAD v4 |
13 | g.20189533A>C | CA387462167 | GJB2 | c.49T>G (p.Ser17Ala) | |
13 | g.20189533A>G | CA387462163 | GJB2 | c.49T>C (p.Ser17Pro) | |
13 | g.20189533A>T | CA387462165 | GJB2 | c.49T>A (p.Ser17Thr) |