| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31444442dup | CA2579578870 | DMD | c.3930+42dup (n.3930+42dup) c.1704+42dup (n.1704+42dup) n.2591dup n.2576+42dup c.939+42dup (n.939+42dup) c.9084+42dup (n.9084+42dup) c.5052+42dup (n.5052+42dup) n.2745+42dup c.897+42dup (n.897+42dup) c.2172+42dup (n.2172+42dup) c.9072+42dup (n.9072+42dup) c.9069+42dup (n.9069+42dup) c.9081+42dup (n.9081+42dup) c.9060+42dup (n.9060+42dup) c.8715+42dup (n.8715+42dup) c.5061+42dup (n.5061+42dup) c.8955+42dup (n.8955+42dup) c.8946+42dup (n.8946+42dup) c.8961+42dup (n.8961+42dup) c.3258+42dup (n.3258+42dup) | |
| X | g.31444442T>A | CA2693362089 | DMD | c.3930+39A>T (n.3930+39A>T) c.1704+39A>T (n.1704+39A>T) n.2588A>T n.2576+39A>T c.939+39A>T (n.939+39A>T) c.9084+39A>T (n.9084+39A>T) c.5052+39A>T (n.5052+39A>T) n.2745+39A>T c.897+39A>T (n.897+39A>T) c.2172+39A>T (n.2172+39A>T) c.9072+39A>T (n.9072+39A>T) c.9069+39A>T (n.9069+39A>T) c.9081+39A>T (n.9081+39A>T) c.9060+39A>T (n.9060+39A>T) c.8715+39A>T (n.8715+39A>T) c.5061+39A>T (n.5061+39A>T) c.8955+39A>T (n.8955+39A>T) c.8946+39A>T (n.8946+39A>T) c.8961+39A>T (n.8961+39A>T) c.3258+39A>T (n.3258+39A>T) | gnomAD v4 |
| X | g.31444442T>C | CA10377920 | DMD | c.3930+39A>G (n.3930+39A>G) c.1704+39A>G (n.1704+39A>G) n.2588A>G n.2576+39A>G c.939+39A>G (n.939+39A>G) c.9084+39A>G (n.9084+39A>G) c.5052+39A>G (n.5052+39A>G) n.2745+39A>G c.897+39A>G (n.897+39A>G) c.2172+39A>G (n.2172+39A>G) c.9072+39A>G (n.9072+39A>G) c.9069+39A>G (n.9069+39A>G) c.9081+39A>G (n.9081+39A>G) c.9060+39A>G (n.9060+39A>G) c.8715+39A>G (n.8715+39A>G) c.5061+39A>G (n.5061+39A>G) c.8955+39A>G (n.8955+39A>G) c.8946+39A>G (n.8946+39A>G) c.8961+39A>G (n.8961+39A>G) c.3258+39A>G (n.3258+39A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444442T= | CA2422434006 | DMD | c.3930+39A= (n.3930+39A=) c.1704+39A= (n.1704+39A=) n.2588A= n.2576+39A= c.939+39A= (n.939+39A=) c.9084+39A= (n.9084+39A=) c.5052+39A= (n.5052+39A=) n.2745+39A= c.897+39A= (n.897+39A=) c.2172+39A= (n.2172+39A=) c.9072+39A= (n.9072+39A=) c.9069+39A= (n.9069+39A=) c.9081+39A= (n.9081+39A=) c.9060+39A= (n.9060+39A=) c.8715+39A= (n.8715+39A=) c.5061+39A= (n.5061+39A=) c.8955+39A= (n.8955+39A=) c.8946+39A= (n.8946+39A=) c.8961+39A= (n.8961+39A=) c.3258+39A= (n.3258+39A=) | |
| X | g.31444444C= | CA2422434007 | DMD | c.3930+37G= (n.3930+37G=) c.1704+37G= (n.1704+37G=) n.2586G= n.2576+37G= c.939+37G= (n.939+37G=) c.9084+37G= (n.9084+37G=) c.5052+37G= (n.5052+37G=) n.2745+37G= c.897+37G= (n.897+37G=) c.2172+37G= (n.2172+37G=) c.9072+37G= (n.9072+37G=) c.9069+37G= (n.9069+37G=) c.9081+37G= (n.9081+37G=) c.9060+37G= (n.9060+37G=) c.8715+37G= (n.8715+37G=) c.5061+37G= (n.5061+37G=) c.8955+37G= (n.8955+37G=) c.8946+37G= (n.8946+37G=) c.8961+37G= (n.8961+37G=) c.3258+37G= (n.3258+37G=) | |
| X | g.31444444C>T | CA641199322 | DMD | c.3930+37G>A (n.3930+37G>A) c.1704+37G>A (n.1704+37G>A) n.2586G>A n.2576+37G>A c.939+37G>A (n.939+37G>A) c.9084+37G>A (n.9084+37G>A) c.5052+37G>A (n.5052+37G>A) n.2745+37G>A c.897+37G>A (n.897+37G>A) c.2172+37G>A (n.2172+37G>A) c.9072+37G>A (n.9072+37G>A) c.9069+37G>A (n.9069+37G>A) c.9081+37G>A (n.9081+37G>A) c.9060+37G>A (n.9060+37G>A) c.8715+37G>A (n.8715+37G>A) c.5061+37G>A (n.5061+37G>A) c.8955+37G>A (n.8955+37G>A) c.8946+37G>A (n.8946+37G>A) c.8961+37G>A (n.8961+37G>A) c.3258+37G>A (n.3258+37G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31444445T>G | CA2693362090 | DMD | c.3930+36A>C (n.3930+36A>C) c.1704+36A>C (n.1704+36A>C) n.2585A>C n.2576+36A>C c.939+36A>C (n.939+36A>C) c.9084+36A>C (n.9084+36A>C) c.5052+36A>C (n.5052+36A>C) n.2745+36A>C c.897+36A>C (n.897+36A>C) c.2172+36A>C (n.2172+36A>C) c.9072+36A>C (n.9072+36A>C) c.9069+36A>C (n.9069+36A>C) c.9081+36A>C (n.9081+36A>C) c.9060+36A>C (n.9060+36A>C) c.8715+36A>C (n.8715+36A>C) c.5061+36A>C (n.5061+36A>C) c.8955+36A>C (n.8955+36A>C) c.8946+36A>C (n.8946+36A>C) c.8961+36A>C (n.8961+36A>C) c.3258+36A>C (n.3258+36A>C) | gnomAD v4 |
| X | g.31444446G>T | CA2693362091 | DMD | c.3930+35C>A (n.3930+35C>A) c.1704+35C>A (n.1704+35C>A) n.2584C>A n.2576+35C>A c.939+35C>A (n.939+35C>A) c.9084+35C>A (n.9084+35C>A) c.5052+35C>A (n.5052+35C>A) n.2745+35C>A c.897+35C>A (n.897+35C>A) c.2172+35C>A (n.2172+35C>A) c.9072+35C>A (n.9072+35C>A) c.9069+35C>A (n.9069+35C>A) c.9081+35C>A (n.9081+35C>A) c.9060+35C>A (n.9060+35C>A) c.8715+35C>A (n.8715+35C>A) c.5061+35C>A (n.5061+35C>A) c.8955+35C>A (n.8955+35C>A) c.8946+35C>A (n.8946+35C>A) c.8961+35C>A (n.8961+35C>A) c.3258+35C>A (n.3258+35C>A) | gnomAD v4 |
| X | g.31444447T>C | CA2693362092 | DMD | c.3930+34A>G (n.3930+34A>G) c.1704+34A>G (n.1704+34A>G) n.2583A>G n.2576+34A>G c.939+34A>G (n.939+34A>G) c.9084+34A>G (n.9084+34A>G) c.5052+34A>G (n.5052+34A>G) n.2745+34A>G c.897+34A>G (n.897+34A>G) c.2172+34A>G (n.2172+34A>G) c.9072+34A>G (n.9072+34A>G) c.9069+34A>G (n.9069+34A>G) c.9081+34A>G (n.9081+34A>G) c.9060+34A>G (n.9060+34A>G) c.8715+34A>G (n.8715+34A>G) c.5061+34A>G (n.5061+34A>G) c.8955+34A>G (n.8955+34A>G) c.8946+34A>G (n.8946+34A>G) c.8961+34A>G (n.8961+34A>G) c.3258+34A>G (n.3258+34A>G) | gnomAD v4 |
| X | g.31444451A= | CA2422434008 | DMD | c.3930+30T= (n.3930+30T=) c.1704+30T= (n.1704+30T=) n.2579T= n.2576+30T= c.939+30T= (n.939+30T=) c.9084+30T= (n.9084+30T=) c.5052+30T= (n.5052+30T=) n.2745+30T= c.897+30T= (n.897+30T=) c.2172+30T= (n.2172+30T=) c.9072+30T= (n.9072+30T=) c.9069+30T= (n.9069+30T=) c.9081+30T= (n.9081+30T=) c.9060+30T= (n.9060+30T=) c.8715+30T= (n.8715+30T=) c.5061+30T= (n.5061+30T=) c.8955+30T= (n.8955+30T=) c.8946+30T= (n.8946+30T=) c.8961+30T= (n.8961+30T=) c.3258+30T= (n.3258+30T=) | |
| X | g.31444451A>G | CA10377921 | DMD | c.3930+30T>C (n.3930+30T>C) c.1704+30T>C (n.1704+30T>C) n.2579T>C n.2576+30T>C c.939+30T>C (n.939+30T>C) c.9084+30T>C (n.9084+30T>C) c.5052+30T>C (n.5052+30T>C) n.2745+30T>C c.897+30T>C (n.897+30T>C) c.2172+30T>C (n.2172+30T>C) c.9072+30T>C (n.9072+30T>C) c.9069+30T>C (n.9069+30T>C) c.9081+30T>C (n.9081+30T>C) c.9060+30T>C (n.9060+30T>C) c.8715+30T>C (n.8715+30T>C) c.5061+30T>C (n.5061+30T>C) c.8955+30T>C (n.8955+30T>C) c.8946+30T>C (n.8946+30T>C) c.8961+30T>C (n.8961+30T>C) c.3258+30T>C (n.3258+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31444455_31444458delinsGACA | CA2422434009 | DMD | c.3930+23_3930+26delinsTGTC (n.3930+23_3930+26delinsTGTC) c.1704+23_1704+26delinsTGTC (n.1704+23_1704+26delinsTGTC) n.2572_2575delinsTGTC n.2576+23_2576+26delinsTGTC c.939+23_939+26delinsTGTC (n.939+23_939+26delinsTGTC) c.9084+23_9084+26delinsTGTC (n.9084+23_9084+26delinsTGTC) c.5052+23_5052+26delinsTGTC (n.5052+23_5052+26delinsTGTC) n.2745+23_2745+26delinsTGTC c.897+23_897+26delinsTGTC (n.897+23_897+26delinsTGTC) c.2172+23_2172+26delinsTGTC (n.2172+23_2172+26delinsTGTC) c.9072+23_9072+26delinsTGTC (n.9072+23_9072+26delinsTGTC) c.9069+23_9069+26delinsTGTC (n.9069+23_9069+26delinsTGTC) c.9081+23_9081+26delinsTGTC (n.9081+23_9081+26delinsTGTC) c.9060+23_9060+26delinsTGTC (n.9060+23_9060+26delinsTGTC) c.8715+23_8715+26delinsTGTC (n.8715+23_8715+26delinsTGTC) c.5061+23_5061+26delinsTGTC (n.5061+23_5061+26delinsTGTC) c.8955+23_8955+26delinsTGTC (n.8955+23_8955+26delinsTGTC) c.8946+23_8946+26delinsTGTC (n.8946+23_8946+26delinsTGTC) c.8961+23_8961+26delinsTGTC (n.8961+23_8961+26delinsTGTC) c.3258+23_3258+26delinsTGTC (n.3258+23_3258+26delinsTGTC) | |
| X | g.31444456A= | CA2422434011 | DMD | c.3930+25T= (n.3930+25T=) c.1704+25T= (n.1704+25T=) n.2574T= n.2576+25T= c.939+25T= (n.939+25T=) c.9084+25T= (n.9084+25T=) c.5052+25T= (n.5052+25T=) n.2745+25T= c.897+25T= (n.897+25T=) c.2172+25T= (n.2172+25T=) c.9072+25T= (n.9072+25T=) c.9069+25T= (n.9069+25T=) c.9081+25T= (n.9081+25T=) c.9060+25T= (n.9060+25T=) c.8715+25T= (n.8715+25T=) c.5061+25T= (n.5061+25T=) c.8955+25T= (n.8955+25T=) c.8946+25T= (n.8946+25T=) c.8961+25T= (n.8961+25T=) c.3258+25T= (n.3258+25T=) | |
| X | g.31444456A>T | CA10377922 | DMD | c.3930+25T>A (n.3930+25T>A) c.1704+25T>A (n.1704+25T>A) n.2574T>A n.2576+25T>A c.939+25T>A (n.939+25T>A) c.9084+25T>A (n.9084+25T>A) c.5052+25T>A (n.5052+25T>A) n.2745+25T>A c.897+25T>A (n.897+25T>A) c.2172+25T>A (n.2172+25T>A) c.9072+25T>A (n.9072+25T>A) c.9069+25T>A (n.9069+25T>A) c.9081+25T>A (n.9081+25T>A) c.9060+25T>A (n.9060+25T>A) c.8715+25T>A (n.8715+25T>A) c.5061+25T>A (n.5061+25T>A) c.8955+25T>A (n.8955+25T>A) c.8946+25T>A (n.8946+25T>A) c.8961+25T>A (n.8961+25T>A) c.3258+25T>A (n.3258+25T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444460_31444462del | CA2422434010 | DMD | c.3930+23_3930+25del (n.3930+23_3930+25del) c.1704+23_1704+25del (n.1704+23_1704+25del) n.2572_2574del n.2576+23_2576+25del c.939+23_939+25del (n.939+23_939+25del) c.9084+23_9084+25del (n.9084+23_9084+25del) c.5052+23_5052+25del (n.5052+23_5052+25del) n.2745+23_2745+25del c.897+23_897+25del (n.897+23_897+25del) c.2172+23_2172+25del (n.2172+23_2172+25del) c.9072+23_9072+25del (n.9072+23_9072+25del) c.9069+23_9069+25del (n.9069+23_9069+25del) c.9081+23_9081+25del (n.9081+23_9081+25del) c.9060+23_9060+25del (n.9060+23_9060+25del) c.8715+23_8715+25del (n.8715+23_8715+25del) c.5061+23_5061+25del (n.5061+23_5061+25del) c.8955+23_8955+25del (n.8955+23_8955+25del) c.8946+23_8946+25del (n.8946+23_8946+25del) c.8961+23_8961+25del (n.8961+23_8961+25del) c.3258+23_3258+25del (n.3258+23_3258+25del) | dbSNP |
| X | g.31444457C= | CA2422434012 | DMD | c.3930+24G= (n.3930+24G=) c.1704+24G= (n.1704+24G=) n.2573G= n.2576+24G= c.939+24G= (n.939+24G=) c.9084+24G= (n.9084+24G=) c.5052+24G= (n.5052+24G=) n.2745+24G= c.897+24G= (n.897+24G=) c.2172+24G= (n.2172+24G=) c.9072+24G= (n.9072+24G=) c.9069+24G= (n.9069+24G=) c.9081+24G= (n.9081+24G=) c.9060+24G= (n.9060+24G=) c.8715+24G= (n.8715+24G=) c.5061+24G= (n.5061+24G=) c.8955+24G= (n.8955+24G=) c.8946+24G= (n.8946+24G=) c.8961+24G= (n.8961+24G=) c.3258+24G= (n.3258+24G=) | |
| X | g.31444457C>T | CA641199325 | DMD | c.3930+24G>A (n.3930+24G>A) c.1704+24G>A (n.1704+24G>A) n.2573G>A n.2576+24G>A c.939+24G>A (n.939+24G>A) c.9084+24G>A (n.9084+24G>A) c.5052+24G>A (n.5052+24G>A) n.2745+24G>A c.897+24G>A (n.897+24G>A) c.2172+24G>A (n.2172+24G>A) c.9072+24G>A (n.9072+24G>A) c.9069+24G>A (n.9069+24G>A) c.9081+24G>A (n.9081+24G>A) c.9060+24G>A (n.9060+24G>A) c.8715+24G>A (n.8715+24G>A) c.5061+24G>A (n.5061+24G>A) c.8955+24G>A (n.8955+24G>A) c.8946+24G>A (n.8946+24G>A) c.8961+24G>A (n.8961+24G>A) c.3258+24G>A (n.3258+24G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31444459A= | CA2422434013 | DMD | c.3930+22T= (n.3930+22T=) c.1704+22T= (n.1704+22T=) n.2571T= n.2576+22T= c.939+22T= (n.939+22T=) c.9084+22T= (n.9084+22T=) c.5052+22T= (n.5052+22T=) n.2745+22T= c.897+22T= (n.897+22T=) c.2172+22T= (n.2172+22T=) c.9072+22T= (n.9072+22T=) c.9069+22T= (n.9069+22T=) c.9081+22T= (n.9081+22T=) c.9060+22T= (n.9060+22T=) c.8715+22T= (n.8715+22T=) c.5061+22T= (n.5061+22T=) c.8955+22T= (n.8955+22T=) c.8946+22T= (n.8946+22T=) c.8961+22T= (n.8961+22T=) c.3258+22T= (n.3258+22T=) | |
| X | g.31444459A>T | CA641199326 | DMD | c.3930+22T>A (n.3930+22T>A) c.1704+22T>A (n.1704+22T>A) n.2571T>A n.2576+22T>A c.939+22T>A (n.939+22T>A) c.9084+22T>A (n.9084+22T>A) c.5052+22T>A (n.5052+22T>A) n.2745+22T>A c.897+22T>A (n.897+22T>A) c.2172+22T>A (n.2172+22T>A) c.9072+22T>A (n.9072+22T>A) c.9069+22T>A (n.9069+22T>A) c.9081+22T>A (n.9081+22T>A) c.9060+22T>A (n.9060+22T>A) c.8715+22T>A (n.8715+22T>A) c.5061+22T>A (n.5061+22T>A) c.8955+22T>A (n.8955+22T>A) c.8946+22T>A (n.8946+22T>A) c.8961+22T>A (n.8961+22T>A) c.3258+22T>A (n.3258+22T>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31444460_31444463delinsCAAT | CA2422434014 | DMD | c.3930+18_3930+21delinsATTG (n.3930+18_3930+21delinsATTG) c.1704+18_1704+21delinsATTG (n.1704+18_1704+21delinsATTG) n.2567_2570delinsATTG n.2576+18_2576+21delinsATTG c.939+18_939+21delinsATTG (n.939+18_939+21delinsATTG) c.9084+18_9084+21delinsATTG (n.9084+18_9084+21delinsATTG) c.5052+18_5052+21delinsATTG (n.5052+18_5052+21delinsATTG) n.2745+18_2745+21delinsATTG c.897+18_897+21delinsATTG (n.897+18_897+21delinsATTG) c.2172+18_2172+21delinsATTG (n.2172+18_2172+21delinsATTG) c.9072+18_9072+21delinsATTG (n.9072+18_9072+21delinsATTG) c.9069+18_9069+21delinsATTG (n.9069+18_9069+21delinsATTG) c.9081+18_9081+21delinsATTG (n.9081+18_9081+21delinsATTG) c.9060+18_9060+21delinsATTG (n.9060+18_9060+21delinsATTG) c.8715+18_8715+21delinsATTG (n.8715+18_8715+21delinsATTG) c.5061+18_5061+21delinsATTG (n.5061+18_5061+21delinsATTG) c.8955+18_8955+21delinsATTG (n.8955+18_8955+21delinsATTG) c.8946+18_8946+21delinsATTG (n.8946+18_8946+21delinsATTG) c.8961+18_8961+21delinsATTG (n.8961+18_8961+21delinsATTG) c.3258+18_3258+21delinsATTG (n.3258+18_3258+21delinsATTG) | |
| X | g.31444461A>G | CA2693362093 | DMD | c.3930+20T>C (n.3930+20T>C) c.1704+20T>C (n.1704+20T>C) n.2569T>C n.2576+20T>C c.939+20T>C (n.939+20T>C) c.9084+20T>C (n.9084+20T>C) c.5052+20T>C (n.5052+20T>C) n.2745+20T>C c.897+20T>C (n.897+20T>C) c.2172+20T>C (n.2172+20T>C) c.9072+20T>C (n.9072+20T>C) c.9069+20T>C (n.9069+20T>C) c.9081+20T>C (n.9081+20T>C) c.9060+20T>C (n.9060+20T>C) c.8715+20T>C (n.8715+20T>C) c.5061+20T>C (n.5061+20T>C) c.8955+20T>C (n.8955+20T>C) c.8946+20T>C (n.8946+20T>C) c.8961+20T>C (n.8961+20T>C) c.3258+20T>C (n.3258+20T>C) | dbSNP gnomAD v4 |
| X | g.31444461_31444463del | CA10377923 | DMD | c.3930+18_3930+20del (n.3930+18_3930+20del) c.1704+18_1704+20del (n.1704+18_1704+20del) n.2567_2569del n.2576+18_2576+20del c.939+18_939+20del (n.939+18_939+20del) c.9084+18_9084+20del (n.9084+18_9084+20del) c.5052+18_5052+20del (n.5052+18_5052+20del) n.2745+18_2745+20del c.897+18_897+20del (n.897+18_897+20del) c.2172+18_2172+20del (n.2172+18_2172+20del) c.9072+18_9072+20del (n.9072+18_9072+20del) c.9069+18_9069+20del (n.9069+18_9069+20del) c.9081+18_9081+20del (n.9081+18_9081+20del) c.9060+18_9060+20del (n.9060+18_9060+20del) c.8715+18_8715+20del (n.8715+18_8715+20del) c.5061+18_5061+20del (n.5061+18_5061+20del) c.8955+18_8955+20del (n.8955+18_8955+20del) c.8946+18_8946+20del (n.8946+18_8946+20del) c.8961+18_8961+20del (n.8961+18_8961+20del) c.3258+18_3258+20del (n.3258+18_3258+20del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444462A= | CA2422434015 | DMD | c.3930+19T= (n.3930+19T=) c.1704+19T= (n.1704+19T=) n.2568T= n.2576+19T= c.939+19T= (n.939+19T=) c.9084+19T= (n.9084+19T=) c.5052+19T= (n.5052+19T=) n.2745+19T= c.897+19T= (n.897+19T=) c.2172+19T= (n.2172+19T=) c.9072+19T= (n.9072+19T=) c.9069+19T= (n.9069+19T=) c.9081+19T= (n.9081+19T=) c.9060+19T= (n.9060+19T=) c.8715+19T= (n.8715+19T=) c.5061+19T= (n.5061+19T=) c.8955+19T= (n.8955+19T=) c.8946+19T= (n.8946+19T=) c.8961+19T= (n.8961+19T=) c.3258+19T= (n.3258+19T=) | |
| X | g.31444462A>C | CA641199328 | DMD | c.3930+19T>G (n.3930+19T>G) c.1704+19T>G (n.1704+19T>G) n.2568T>G n.2576+19T>G c.939+19T>G (n.939+19T>G) c.9084+19T>G (n.9084+19T>G) c.5052+19T>G (n.5052+19T>G) n.2745+19T>G c.897+19T>G (n.897+19T>G) c.2172+19T>G (n.2172+19T>G) c.9072+19T>G (n.9072+19T>G) c.9069+19T>G (n.9069+19T>G) c.9081+19T>G (n.9081+19T>G) c.9060+19T>G (n.9060+19T>G) c.8715+19T>G (n.8715+19T>G) c.5061+19T>G (n.5061+19T>G) c.8955+19T>G (n.8955+19T>G) c.8946+19T>G (n.8946+19T>G) c.8961+19T>G (n.8961+19T>G) c.3258+19T>G (n.3258+19T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.31444462A>T | CA2579578871 | DMD | c.3930+19T>A (n.3930+19T>A) c.1704+19T>A (n.1704+19T>A) n.2568T>A n.2576+19T>A c.939+19T>A (n.939+19T>A) c.9084+19T>A (n.9084+19T>A) c.5052+19T>A (n.5052+19T>A) n.2745+19T>A c.897+19T>A (n.897+19T>A) c.2172+19T>A (n.2172+19T>A) c.9072+19T>A (n.9072+19T>A) c.9069+19T>A (n.9069+19T>A) c.9081+19T>A (n.9081+19T>A) c.9060+19T>A (n.9060+19T>A) c.8715+19T>A (n.8715+19T>A) c.5061+19T>A (n.5061+19T>A) c.8955+19T>A (n.8955+19T>A) c.8946+19T>A (n.8946+19T>A) c.8961+19T>A (n.8961+19T>A) c.3258+19T>A (n.3258+19T>A) | |
| X | g.31444463T>A | CA2693362094 | DMD | c.3930+18A>T (n.3930+18A>T) c.1704+18A>T (n.1704+18A>T) n.2567A>T n.2576+18A>T c.939+18A>T (n.939+18A>T) c.9084+18A>T (n.9084+18A>T) c.5052+18A>T (n.5052+18A>T) n.2745+18A>T c.897+18A>T (n.897+18A>T) c.2172+18A>T (n.2172+18A>T) c.9072+18A>T (n.9072+18A>T) c.9069+18A>T (n.9069+18A>T) c.9081+18A>T (n.9081+18A>T) c.9060+18A>T (n.9060+18A>T) c.8715+18A>T (n.8715+18A>T) c.5061+18A>T (n.5061+18A>T) c.8955+18A>T (n.8955+18A>T) c.8946+18A>T (n.8946+18A>T) c.8961+18A>T (n.8961+18A>T) c.3258+18A>T (n.3258+18A>T) | gnomAD v4 |
| X | g.31444463T>C | CA2739268125 | DMD | c.3930+18A>G (n.3930+18A>G) c.1704+18A>G (n.1704+18A>G) n.2567A>G n.2576+18A>G c.939+18A>G (n.939+18A>G) c.9084+18A>G (n.9084+18A>G) c.5052+18A>G (n.5052+18A>G) n.2745+18A>G c.897+18A>G (n.897+18A>G) c.2172+18A>G (n.2172+18A>G) c.9072+18A>G (n.9072+18A>G) c.9069+18A>G (n.9069+18A>G) c.9081+18A>G (n.9081+18A>G) c.9060+18A>G (n.9060+18A>G) c.8715+18A>G (n.8715+18A>G) c.5061+18A>G (n.5061+18A>G) c.8955+18A>G (n.8955+18A>G) c.8946+18A>G (n.8946+18A>G) c.8961+18A>G (n.8961+18A>G) c.3258+18A>G (n.3258+18A>G) | ClinVar |
| X | g.31444464G>A | CA1132088411 | DMD | c.3930+17C>T (n.3930+17C>T) c.1704+17C>T (n.1704+17C>T) n.2566C>T n.2576+17C>T c.939+17C>T (n.939+17C>T) c.9084+17C>T (n.9084+17C>T) c.5052+17C>T (n.5052+17C>T) n.2745+17C>T c.897+17C>T (n.897+17C>T) c.2172+17C>T (n.2172+17C>T) c.9072+17C>T (n.9072+17C>T) c.9069+17C>T (n.9069+17C>T) c.9081+17C>T (n.9081+17C>T) c.9060+17C>T (n.9060+17C>T) c.8715+17C>T (n.8715+17C>T) c.5061+17C>T (n.5061+17C>T) c.8955+17C>T (n.8955+17C>T) c.8946+17C>T (n.8946+17C>T) c.8961+17C>T (n.8961+17C>T) c.3258+17C>T (n.3258+17C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.31444464G>C | CA2820298334 | DMD | c.3930+17C>G (n.3930+17C>G) c.1704+17C>G (n.1704+17C>G) n.2566C>G n.2576+17C>G c.939+17C>G (n.939+17C>G) c.9084+17C>G (n.9084+17C>G) c.5052+17C>G (n.5052+17C>G) n.2745+17C>G c.897+17C>G (n.897+17C>G) c.2172+17C>G (n.2172+17C>G) c.9072+17C>G (n.9072+17C>G) c.9069+17C>G (n.9069+17C>G) c.9081+17C>G (n.9081+17C>G) c.9060+17C>G (n.9060+17C>G) c.8715+17C>G (n.8715+17C>G) c.5061+17C>G (n.5061+17C>G) c.8955+17C>G (n.8955+17C>G) c.8946+17C>G (n.8946+17C>G) c.8961+17C>G (n.8961+17C>G) c.3258+17C>G (n.3258+17C>G) | |
| X | g.31444464G= | CA2422434016 | DMD | c.3930+17C= (n.3930+17C=) c.1704+17C= (n.1704+17C=) n.2566C= n.2576+17C= c.939+17C= (n.939+17C=) c.9084+17C= (n.9084+17C=) c.5052+17C= (n.5052+17C=) n.2745+17C= c.897+17C= (n.897+17C=) c.2172+17C= (n.2172+17C=) c.9072+17C= (n.9072+17C=) c.9069+17C= (n.9069+17C=) c.9081+17C= (n.9081+17C=) c.9060+17C= (n.9060+17C=) c.8715+17C= (n.8715+17C=) c.5061+17C= (n.5061+17C=) c.8955+17C= (n.8955+17C=) c.8946+17C= (n.8946+17C=) c.8961+17C= (n.8961+17C=) c.3258+17C= (n.3258+17C=) | |
| X | g.31444465T>C | CA658799665 | DMD | c.3930+16A>G (n.3930+16A>G) c.1704+16A>G (n.1704+16A>G) n.2565A>G n.2576+16A>G c.939+16A>G (n.939+16A>G) c.9084+16A>G (n.9084+16A>G) c.5052+16A>G (n.5052+16A>G) n.2745+16A>G c.897+16A>G (n.897+16A>G) c.2172+16A>G (n.2172+16A>G) c.9072+16A>G (n.9072+16A>G) c.9069+16A>G (n.9069+16A>G) c.9081+16A>G (n.9081+16A>G) c.9060+16A>G (n.9060+16A>G) c.8715+16A>G (n.8715+16A>G) c.5061+16A>G (n.5061+16A>G) c.8955+16A>G (n.8955+16A>G) c.8946+16A>G (n.8946+16A>G) c.8961+16A>G (n.8961+16A>G) c.3258+16A>G (n.3258+16A>G) | ClinVar dbSNP |
| X | g.31444465T= | CA2422434017 | DMD | c.3930+16A= (n.3930+16A=) c.1704+16A= (n.1704+16A=) n.2565A= n.2576+16A= c.939+16A= (n.939+16A=) c.9084+16A= (n.9084+16A=) c.5052+16A= (n.5052+16A=) n.2745+16A= c.897+16A= (n.897+16A=) c.2172+16A= (n.2172+16A=) c.9072+16A= (n.9072+16A=) c.9069+16A= (n.9069+16A=) c.9081+16A= (n.9081+16A=) c.9060+16A= (n.9060+16A=) c.8715+16A= (n.8715+16A=) c.5061+16A= (n.5061+16A=) c.8955+16A= (n.8955+16A=) c.8946+16A= (n.8946+16A=) c.8961+16A= (n.8961+16A=) c.3258+16A= (n.3258+16A=) | |
| X | g.31444466T>A | CA10377924 | DMD | c.3930+15A>T (n.3930+15A>T) c.1704+15A>T (n.1704+15A>T) n.2564A>T n.2576+15A>T c.939+15A>T (n.939+15A>T) c.9084+15A>T (n.9084+15A>T) c.5052+15A>T (n.5052+15A>T) n.2745+15A>T c.897+15A>T (n.897+15A>T) c.2172+15A>T (n.2172+15A>T) c.9072+15A>T (n.9072+15A>T) c.9069+15A>T (n.9069+15A>T) c.9081+15A>T (n.9081+15A>T) c.9060+15A>T (n.9060+15A>T) c.8715+15A>T (n.8715+15A>T) c.5061+15A>T (n.5061+15A>T) c.8955+15A>T (n.8955+15A>T) c.8946+15A>T (n.8946+15A>T) c.8961+15A>T (n.8961+15A>T) c.3258+15A>T (n.3258+15A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444466T>C | CA2693362095 | DMD | c.3930+15A>G (n.3930+15A>G) c.1704+15A>G (n.1704+15A>G) n.2564A>G n.2576+15A>G c.939+15A>G (n.939+15A>G) c.9084+15A>G (n.9084+15A>G) c.5052+15A>G (n.5052+15A>G) n.2745+15A>G c.897+15A>G (n.897+15A>G) c.2172+15A>G (n.2172+15A>G) c.9072+15A>G (n.9072+15A>G) c.9069+15A>G (n.9069+15A>G) c.9081+15A>G (n.9081+15A>G) c.9060+15A>G (n.9060+15A>G) c.8715+15A>G (n.8715+15A>G) c.5061+15A>G (n.5061+15A>G) c.8955+15A>G (n.8955+15A>G) c.8946+15A>G (n.8946+15A>G) c.8961+15A>G (n.8961+15A>G) c.3258+15A>G (n.3258+15A>G) | gnomAD v4 |
| X | g.31444466T= | CA2422434018 | DMD | c.3930+15A= (n.3930+15A=) c.1704+15A= (n.1704+15A=) n.2564A= n.2576+15A= c.939+15A= (n.939+15A=) c.9084+15A= (n.9084+15A=) c.5052+15A= (n.5052+15A=) n.2745+15A= c.897+15A= (n.897+15A=) c.2172+15A= (n.2172+15A=) c.9072+15A= (n.9072+15A=) c.9069+15A= (n.9069+15A=) c.9081+15A= (n.9081+15A=) c.9060+15A= (n.9060+15A=) c.8715+15A= (n.8715+15A=) c.5061+15A= (n.5061+15A=) c.8955+15A= (n.8955+15A=) c.8946+15A= (n.8946+15A=) c.8961+15A= (n.8961+15A=) c.3258+15A= (n.3258+15A=) | |
| X | g.31444468A= | CA2422434019 | DMD | c.3930+13T= (n.3930+13T=) c.1704+13T= (n.1704+13T=) n.2562T= n.2576+13T= c.939+13T= (n.939+13T=) c.9084+13T= (n.9084+13T=) c.5052+13T= (n.5052+13T=) n.2745+13T= c.897+13T= (n.897+13T=) c.2172+13T= (n.2172+13T=) c.9072+13T= (n.9072+13T=) c.9069+13T= (n.9069+13T=) c.9081+13T= (n.9081+13T=) c.9060+13T= (n.9060+13T=) c.8715+13T= (n.8715+13T=) c.5061+13T= (n.5061+13T=) c.8955+13T= (n.8955+13T=) c.8946+13T= (n.8946+13T=) c.8961+13T= (n.8961+13T=) c.3258+13T= (n.3258+13T=) | |
| X | g.31444468A>G | CA2422434020 | DMD | c.3930+13T>C (n.3930+13T>C) c.1704+13T>C (n.1704+13T>C) n.2562T>C n.2576+13T>C c.939+13T>C (n.939+13T>C) c.9084+13T>C (n.9084+13T>C) c.5052+13T>C (n.5052+13T>C) n.2745+13T>C c.897+13T>C (n.897+13T>C) c.2172+13T>C (n.2172+13T>C) c.9072+13T>C (n.9072+13T>C) c.9069+13T>C (n.9069+13T>C) c.9081+13T>C (n.9081+13T>C) c.9060+13T>C (n.9060+13T>C) c.8715+13T>C (n.8715+13T>C) c.5061+13T>C (n.5061+13T>C) c.8955+13T>C (n.8955+13T>C) c.8946+13T>C (n.8946+13T>C) c.8961+13T>C (n.8961+13T>C) c.3258+13T>C (n.3258+13T>C) | ClinVar dbSNP |
| X | g.31444469C>T | CA2580100568 | DMD | c.3930+12G>A (n.3930+12G>A) c.1704+12G>A (n.1704+12G>A) n.2561G>A n.2576+12G>A c.939+12G>A (n.939+12G>A) c.9084+12G>A (n.9084+12G>A) c.5052+12G>A (n.5052+12G>A) n.2745+12G>A c.897+12G>A (n.897+12G>A) c.2172+12G>A (n.2172+12G>A) c.9072+12G>A (n.9072+12G>A) c.9069+12G>A (n.9069+12G>A) c.9081+12G>A (n.9081+12G>A) c.9060+12G>A (n.9060+12G>A) c.8715+12G>A (n.8715+12G>A) c.5061+12G>A (n.5061+12G>A) c.8955+12G>A (n.8955+12G>A) c.8946+12G>A (n.8946+12G>A) c.8961+12G>A (n.8961+12G>A) c.3258+12G>A (n.3258+12G>A) | ClinVar |
| X | g.31444471A= | CA2422434021 | DMD | c.3930+10T= (n.3930+10T=) c.1704+10T= (n.1704+10T=) n.2559T= n.2576+10T= c.939+10T= (n.939+10T=) c.9084+10T= (n.9084+10T=) c.5052+10T= (n.5052+10T=) n.2745+10T= c.897+10T= (n.897+10T=) c.2172+10T= (n.2172+10T=) c.9072+10T= (n.9072+10T=) c.9069+10T= (n.9069+10T=) c.9081+10T= (n.9081+10T=) c.9060+10T= (n.9060+10T=) c.8715+10T= (n.8715+10T=) c.5061+10T= (n.5061+10T=) c.8955+10T= (n.8955+10T=) c.8946+10T= (n.8946+10T=) c.8961+10T= (n.8961+10T=) c.3258+10T= (n.3258+10T=) | |
| X | g.31444471A>G | CA874667175 | DMD | c.3930+10T>C (n.3930+10T>C) c.1704+10T>C (n.1704+10T>C) n.2559T>C n.2576+10T>C c.939+10T>C (n.939+10T>C) c.9084+10T>C (n.9084+10T>C) c.5052+10T>C (n.5052+10T>C) n.2745+10T>C c.897+10T>C (n.897+10T>C) c.2172+10T>C (n.2172+10T>C) c.9072+10T>C (n.9072+10T>C) c.9069+10T>C (n.9069+10T>C) c.9081+10T>C (n.9081+10T>C) c.9060+10T>C (n.9060+10T>C) c.8715+10T>C (n.8715+10T>C) c.5061+10T>C (n.5061+10T>C) c.8955+10T>C (n.8955+10T>C) c.8946+10T>C (n.8946+10T>C) c.8961+10T>C (n.8961+10T>C) c.3258+10T>C (n.3258+10T>C) | ClinVar dbSNP |
| X | g.31444472T>C | CA2573158753 | DMD | c.3930+9A>G (n.3930+9A>G) c.1704+9A>G (n.1704+9A>G) n.2558A>G n.2576+9A>G c.939+9A>G (n.939+9A>G) c.9084+9A>G (n.9084+9A>G) c.5052+9A>G (n.5052+9A>G) n.2745+9A>G c.897+9A>G (n.897+9A>G) c.2172+9A>G (n.2172+9A>G) c.9072+9A>G (n.9072+9A>G) c.9069+9A>G (n.9069+9A>G) c.9081+9A>G (n.9081+9A>G) c.9060+9A>G (n.9060+9A>G) c.8715+9A>G (n.8715+9A>G) c.5061+9A>G (n.5061+9A>G) c.8955+9A>G (n.8955+9A>G) c.8946+9A>G (n.8946+9A>G) c.8961+9A>G (n.8961+9A>G) c.3258+9A>G (n.3258+9A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.31444473G>A | CA10377925 | DMD | c.3930+8C>T (n.3930+8C>T) c.1704+8C>T (n.1704+8C>T) n.2557C>T n.2576+8C>T c.939+8C>T (n.939+8C>T) c.9084+8C>T (n.9084+8C>T) c.5052+8C>T (n.5052+8C>T) n.2745+8C>T c.897+8C>T (n.897+8C>T) c.2172+8C>T (n.2172+8C>T) c.9072+8C>T (n.9072+8C>T) c.9069+8C>T (n.9069+8C>T) c.9081+8C>T (n.9081+8C>T) c.9060+8C>T (n.9060+8C>T) c.8715+8C>T (n.8715+8C>T) c.5061+8C>T (n.5061+8C>T) c.8955+8C>T (n.8955+8C>T) c.8946+8C>T (n.8946+8C>T) c.8961+8C>T (n.8961+8C>T) c.3258+8C>T (n.3258+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444473G= | CA2422434022 | DMD | c.3930+8C= (n.3930+8C=) c.1704+8C= (n.1704+8C=) n.2557C= n.2576+8C= c.939+8C= (n.939+8C=) c.9084+8C= (n.9084+8C=) c.5052+8C= (n.5052+8C=) n.2745+8C= c.897+8C= (n.897+8C=) c.2172+8C= (n.2172+8C=) c.9072+8C= (n.9072+8C=) c.9069+8C= (n.9069+8C=) c.9081+8C= (n.9081+8C=) c.9060+8C= (n.9060+8C=) c.8715+8C= (n.8715+8C=) c.5061+8C= (n.5061+8C=) c.8955+8C= (n.8955+8C=) c.8946+8C= (n.8946+8C=) c.8961+8C= (n.8961+8C=) c.3258+8C= (n.3258+8C=) | |
| X | g.31444473G>T | CA2537389233 | DMD | c.3930+8C>A (n.3930+8C>A) c.1704+8C>A (n.1704+8C>A) n.2557C>A n.2576+8C>A c.939+8C>A (n.939+8C>A) c.9084+8C>A (n.9084+8C>A) c.5052+8C>A (n.5052+8C>A) n.2745+8C>A c.897+8C>A (n.897+8C>A) c.2172+8C>A (n.2172+8C>A) c.9072+8C>A (n.9072+8C>A) c.9069+8C>A (n.9069+8C>A) c.9081+8C>A (n.9081+8C>A) c.9060+8C>A (n.9060+8C>A) c.8715+8C>A (n.8715+8C>A) c.5061+8C>A (n.5061+8C>A) c.8955+8C>A (n.8955+8C>A) c.8946+8C>A (n.8946+8C>A) c.8961+8C>A (n.8961+8C>A) c.3258+8C>A (n.3258+8C>A) | |
| X | g.31444474T>C | CA2422434024 | DMD | c.3930+7A>G (n.3930+7A>G) c.1704+7A>G (n.1704+7A>G) n.2556A>G n.2576+7A>G c.939+7A>G (n.939+7A>G) c.9084+7A>G (n.9084+7A>G) c.5052+7A>G (n.5052+7A>G) n.2745+7A>G c.897+7A>G (n.897+7A>G) c.2172+7A>G (n.2172+7A>G) c.9072+7A>G (n.9072+7A>G) c.9069+7A>G (n.9069+7A>G) c.9081+7A>G (n.9081+7A>G) c.9060+7A>G (n.9060+7A>G) c.8715+7A>G (n.8715+7A>G) c.5061+7A>G (n.5061+7A>G) c.8955+7A>G (n.8955+7A>G) c.8946+7A>G (n.8946+7A>G) c.8961+7A>G (n.8961+7A>G) c.3258+7A>G (n.3258+7A>G) | dbSNP |
| X | g.31444474T= | CA2422434023 | DMD | c.3930+7A= (n.3930+7A=) c.1704+7A= (n.1704+7A=) n.2556A= n.2576+7A= c.939+7A= (n.939+7A=) c.9084+7A= (n.9084+7A=) c.5052+7A= (n.5052+7A=) n.2745+7A= c.897+7A= (n.897+7A=) c.2172+7A= (n.2172+7A=) c.9072+7A= (n.9072+7A=) c.9069+7A= (n.9069+7A=) c.9081+7A= (n.9081+7A=) c.9060+7A= (n.9060+7A=) c.8715+7A= (n.8715+7A=) c.5061+7A= (n.5061+7A=) c.8955+7A= (n.8955+7A=) c.8946+7A= (n.8946+7A=) c.8961+7A= (n.8961+7A=) c.3258+7A= (n.3258+7A=) | |
| X | g.31444475G>A | CA2693362096 | DMD | c.3930+6C>T (n.3930+6C>T) c.1704+6C>T (n.1704+6C>T) n.2555C>T n.2576+6C>T c.939+6C>T (n.939+6C>T) c.9084+6C>T (n.9084+6C>T) c.5052+6C>T (n.5052+6C>T) n.2745+6C>T c.897+6C>T (n.897+6C>T) c.2172+6C>T (n.2172+6C>T) c.9072+6C>T (n.9072+6C>T) c.9069+6C>T (n.9069+6C>T) c.9081+6C>T (n.9081+6C>T) c.9060+6C>T (n.9060+6C>T) c.8715+6C>T (n.8715+6C>T) c.5061+6C>T (n.5061+6C>T) c.8955+6C>T (n.8955+6C>T) c.8946+6C>T (n.8946+6C>T) c.8961+6C>T (n.8961+6C>T) c.3258+6C>T (n.3258+6C>T) | gnomAD v4 |
| X | g.31444475G= | CA2422434025 | DMD | c.3930+6C= (n.3930+6C=) c.1704+6C= (n.1704+6C=) n.2555C= n.2576+6C= c.939+6C= (n.939+6C=) c.9084+6C= (n.9084+6C=) c.5052+6C= (n.5052+6C=) n.2745+6C= c.897+6C= (n.897+6C=) c.2172+6C= (n.2172+6C=) c.9072+6C= (n.9072+6C=) c.9069+6C= (n.9069+6C=) c.9081+6C= (n.9081+6C=) c.9060+6C= (n.9060+6C=) c.8715+6C= (n.8715+6C=) c.5061+6C= (n.5061+6C=) c.8955+6C= (n.8955+6C=) c.8946+6C= (n.8946+6C=) c.8961+6C= (n.8961+6C=) c.3258+6C= (n.3258+6C=) | |
| X | g.31444475G>T | CA2422434026 | DMD | c.3930+6C>A (n.3930+6C>A) c.1704+6C>A (n.1704+6C>A) n.2555C>A n.2576+6C>A c.939+6C>A (n.939+6C>A) c.9084+6C>A (n.9084+6C>A) c.5052+6C>A (n.5052+6C>A) n.2745+6C>A c.897+6C>A (n.897+6C>A) c.2172+6C>A (n.2172+6C>A) c.9072+6C>A (n.9072+6C>A) c.9069+6C>A (n.9069+6C>A) c.9081+6C>A (n.9081+6C>A) c.9060+6C>A (n.9060+6C>A) c.8715+6C>A (n.8715+6C>A) c.5061+6C>A (n.5061+6C>A) c.8955+6C>A (n.8955+6C>A) c.8946+6C>A (n.8946+6C>A) c.8961+6C>A (n.8961+6C>A) c.3258+6C>A (n.3258+6C>A) | ClinVar dbSNP |
| X | g.31444476C>T | CA2693362097 | DMD | c.3930+5G>A (n.3930+5G>A) c.1704+5G>A (n.1704+5G>A) n.2554G>A n.2576+5G>A c.939+5G>A (n.939+5G>A) c.9084+5G>A (n.9084+5G>A) c.5052+5G>A (n.5052+5G>A) n.2745+5G>A c.897+5G>A (n.897+5G>A) c.2172+5G>A (n.2172+5G>A) c.9072+5G>A (n.9072+5G>A) c.9069+5G>A (n.9069+5G>A) c.9081+5G>A (n.9081+5G>A) c.9060+5G>A (n.9060+5G>A) c.8715+5G>A (n.8715+5G>A) c.5061+5G>A (n.5061+5G>A) c.8955+5G>A (n.8955+5G>A) c.8946+5G>A (n.8946+5G>A) c.8961+5G>A (n.8961+5G>A) c.3258+5G>A (n.3258+5G>A) | gnomAD v4 |
| X | g.31444477T>C | CA2422434028 | DMD | c.3930+4A>G (n.3930+4A>G) c.1704+4A>G (n.1704+4A>G) n.2553A>G n.2576+4A>G c.939+4A>G (n.939+4A>G) c.9084+4A>G (n.9084+4A>G) c.5052+4A>G (n.5052+4A>G) n.2745+4A>G c.897+4A>G (n.897+4A>G) c.2172+4A>G (n.2172+4A>G) c.9072+4A>G (n.9072+4A>G) c.9069+4A>G (n.9069+4A>G) c.9081+4A>G (n.9081+4A>G) c.9060+4A>G (n.9060+4A>G) c.8715+4A>G (n.8715+4A>G) c.5061+4A>G (n.5061+4A>G) c.8955+4A>G (n.8955+4A>G) c.8946+4A>G (n.8946+4A>G) c.8961+4A>G (n.8961+4A>G) c.3258+4A>G (n.3258+4A>G) | dbSNP |
| X | g.31444477T= | CA2422434027 | DMD | c.3930+4A= (n.3930+4A=) c.1704+4A= (n.1704+4A=) n.2553A= n.2576+4A= c.939+4A= (n.939+4A=) c.9084+4A= (n.9084+4A=) c.5052+4A= (n.5052+4A=) n.2745+4A= c.897+4A= (n.897+4A=) c.2172+4A= (n.2172+4A=) c.9072+4A= (n.9072+4A=) c.9069+4A= (n.9069+4A=) c.9081+4A= (n.9081+4A=) c.9060+4A= (n.9060+4A=) c.8715+4A= (n.8715+4A=) c.5061+4A= (n.5061+4A=) c.8955+4A= (n.8955+4A=) c.8946+4A= (n.8946+4A=) c.8961+4A= (n.8961+4A=) c.3258+4A= (n.3258+4A=) | |
| X | g.31444479A>C | CA412655022 | DMD | c.3930+2T>G (n.3930+2T>G) c.1704+2T>G (n.1704+2T>G) n.2551T>G n.2576+2T>G c.939+2T>G (n.939+2T>G) c.9084+2T>G (n.9084+2T>G) c.5052+2T>G (n.5052+2T>G) n.2745+2T>G c.897+2T>G (n.897+2T>G) c.2172+2T>G (n.2172+2T>G) c.9072+2T>G (n.9072+2T>G) c.9069+2T>G (n.9069+2T>G) c.9081+2T>G (n.9081+2T>G) c.9060+2T>G (n.9060+2T>G) c.8715+2T>G (n.8715+2T>G) c.5061+2T>G (n.5061+2T>G) c.8955+2T>G (n.8955+2T>G) c.8946+2T>G (n.8946+2T>G) c.8961+2T>G (n.8961+2T>G) c.3258+2T>G (n.3258+2T>G) | |
| X | g.31444479A>G | CA412655023 | DMD | c.3930+2T>C (n.3930+2T>C) c.1704+2T>C (n.1704+2T>C) n.2551T>C n.2576+2T>C c.939+2T>C (n.939+2T>C) c.9084+2T>C (n.9084+2T>C) c.5052+2T>C (n.5052+2T>C) n.2745+2T>C c.897+2T>C (n.897+2T>C) c.2172+2T>C (n.2172+2T>C) c.9072+2T>C (n.9072+2T>C) c.9069+2T>C (n.9069+2T>C) c.9081+2T>C (n.9081+2T>C) c.9060+2T>C (n.9060+2T>C) c.8715+2T>C (n.8715+2T>C) c.5061+2T>C (n.5061+2T>C) c.8955+2T>C (n.8955+2T>C) c.8946+2T>C (n.8946+2T>C) c.8961+2T>C (n.8961+2T>C) c.3258+2T>C (n.3258+2T>C) | ClinVar |
| X | g.31444479A>T | CA412655024 | DMD | c.3930+2T>A (n.3930+2T>A) c.1704+2T>A (n.1704+2T>A) n.2551T>A n.2576+2T>A c.939+2T>A (n.939+2T>A) c.9084+2T>A (n.9084+2T>A) c.5052+2T>A (n.5052+2T>A) n.2745+2T>A c.897+2T>A (n.897+2T>A) c.2172+2T>A (n.2172+2T>A) c.9072+2T>A (n.9072+2T>A) c.9069+2T>A (n.9069+2T>A) c.9081+2T>A (n.9081+2T>A) c.9060+2T>A (n.9060+2T>A) c.8715+2T>A (n.8715+2T>A) c.5061+2T>A (n.5061+2T>A) c.8955+2T>A (n.8955+2T>A) c.8946+2T>A (n.8946+2T>A) c.8961+2T>A (n.8961+2T>A) c.3258+2T>A (n.3258+2T>A) | |
| X | g.31444480C>A | CA412655026 | DMD | c.3930+1G>T (n.3930+1G>T) c.1704+1G>T (n.1704+1G>T) n.2550G>T n.2576+1G>T c.939+1G>T (n.939+1G>T) c.9084+1G>T (n.9084+1G>T) c.5052+1G>T (n.5052+1G>T) n.2745+1G>T c.897+1G>T (n.897+1G>T) c.2172+1G>T (n.2172+1G>T) c.9072+1G>T (n.9072+1G>T) c.9069+1G>T (n.9069+1G>T) c.9081+1G>T (n.9081+1G>T) c.9060+1G>T (n.9060+1G>T) c.8715+1G>T (n.8715+1G>T) c.5061+1G>T (n.5061+1G>T) c.8955+1G>T (n.8955+1G>T) c.8946+1G>T (n.8946+1G>T) c.8961+1G>T (n.8961+1G>T) c.3258+1G>T (n.3258+1G>T) | |
| X | g.31444480C>G | CA412655027 | DMD | c.3930+1G>C (n.3930+1G>C) c.1704+1G>C (n.1704+1G>C) n.2550G>C n.2576+1G>C c.939+1G>C (n.939+1G>C) c.9084+1G>C (n.9084+1G>C) c.5052+1G>C (n.5052+1G>C) n.2745+1G>C c.897+1G>C (n.897+1G>C) c.2172+1G>C (n.2172+1G>C) c.9072+1G>C (n.9072+1G>C) c.9069+1G>C (n.9069+1G>C) c.9081+1G>C (n.9081+1G>C) c.9060+1G>C (n.9060+1G>C) c.8715+1G>C (n.8715+1G>C) c.5061+1G>C (n.5061+1G>C) c.8955+1G>C (n.8955+1G>C) c.8946+1G>C (n.8946+1G>C) c.8961+1G>C (n.8961+1G>C) c.3258+1G>C (n.3258+1G>C) | |
| X | g.31444480C>T | CA412655025 | DMD | c.3930+1G>A (n.3930+1G>A) c.1704+1G>A (n.1704+1G>A) n.2550G>A n.2576+1G>A c.939+1G>A (n.939+1G>A) c.9084+1G>A (n.9084+1G>A) c.5052+1G>A (n.5052+1G>A) n.2745+1G>A c.897+1G>A (n.897+1G>A) c.2172+1G>A (n.2172+1G>A) c.9072+1G>A (n.9072+1G>A) c.9069+1G>A (n.9069+1G>A) c.9081+1G>A (n.9081+1G>A) c.9060+1G>A (n.9060+1G>A) c.8715+1G>A (n.8715+1G>A) c.5061+1G>A (n.5061+1G>A) c.8955+1G>A (n.8955+1G>A) c.8946+1G>A (n.8946+1G>A) c.8961+1G>A (n.8961+1G>A) c.3258+1G>A (n.3258+1G>A) | |
| X | g.31444481C>A | CA412655029 | DMD | c.3930G>T (p.Gln1310His) c.1704G>T (p.Gln568His) n.2549G>T n.2576G>T c.939G>T (p.Gln313His) c.9084G>T (p.Gln3028His) c.5052G>T (p.Gln1684His) n.2745G>T c.897G>T (p.Gln299His) c.2172G>T (p.Gln724His) c.9072G>T (p.Gln3024His) c.9069G>T (p.Gln3023His) c.9081G>T (p.Gln3027His) c.9060G>T (p.Gln3020His) c.8715G>T (p.Gln2905His) c.5061G>T (p.Gln1687His) c.8955G>T (p.Gln2985His) c.8946G>T (p.Gln2982His) c.8961G>T (p.Gln2987His) c.3258G>T (p.Gln1086His) | gnomAD v4 |
| X | g.31444481C>G | CA412655028 | DMD | c.3930G>C (p.Gln1310His) c.1704G>C (p.Gln568His) n.2549G>C n.2576G>C c.939G>C (p.Gln313His) c.9084G>C (p.Gln3028His) c.5052G>C (p.Gln1684His) n.2745G>C c.897G>C (p.Gln299His) c.2172G>C (p.Gln724His) c.9072G>C (p.Gln3024His) c.9069G>C (p.Gln3023His) c.9081G>C (p.Gln3027His) c.9060G>C (p.Gln3020His) c.8715G>C (p.Gln2905His) c.5061G>C (p.Gln1687His) c.8955G>C (p.Gln2985His) c.8946G>C (p.Gln2982His) c.8961G>C (p.Gln2987His) c.3258G>C (p.Gln1086His) | |
| X | g.31444481C>T | CA515858172 | DMD | c.3930G>A (p.Gln1310=) c.1704G>A (p.Gln568=) n.2549G>A n.2576G>A c.939G>A (p.Gln313=) c.9084G>A (p.Gln3028=) c.5052G>A (p.Gln1684=) n.2745G>A c.897G>A (p.Gln299=) c.2172G>A (p.Gln724=) c.9072G>A (p.Gln3024=) c.9069G>A (p.Gln3023=) c.9081G>A (p.Gln3027=) c.9060G>A (p.Gln3020=) c.8715G>A (p.Gln2905=) c.5061G>A (p.Gln1687=) c.8955G>A (p.Gln2985=) c.8946G>A (p.Gln2982=) c.8961G>A (p.Gln2987=) c.3258G>A (p.Gln1086=) | |
| X | g.31444482T>A | CA412655031 | DMD | c.3929A>T (p.Gln1310Leu) c.1703A>T (p.Gln568Leu) n.2548A>T n.2575A>T c.938A>T (p.Gln313Leu) c.9083A>T (p.Gln3028Leu) c.5051A>T (p.Gln1684Leu) n.2744A>T c.896A>T (p.Gln299Leu) c.2171A>T (p.Gln724Leu) c.9071A>T (p.Gln3024Leu) c.9068A>T (p.Gln3023Leu) c.9080A>T (p.Gln3027Leu) c.9059A>T (p.Gln3020Leu) c.8714A>T (p.Gln2905Leu) c.5060A>T (p.Gln1687Leu) c.8954A>T (p.Gln2985Leu) c.8945A>T (p.Gln2982Leu) c.8960A>T (p.Gln2987Leu) c.3257A>T (p.Gln1086Leu) | |
| X | g.31444482T>C | CA10377926 | DMD | c.3929A>G (p.Gln1310Arg) c.1703A>G (p.Gln568Arg) n.2548A>G n.2575A>G c.938A>G (p.Gln313Arg) c.9083A>G (p.Gln3028Arg) c.5051A>G (p.Gln1684Arg) n.2744A>G c.896A>G (p.Gln299Arg) c.2171A>G (p.Gln724Arg) c.9071A>G (p.Gln3024Arg) c.9068A>G (p.Gln3023Arg) c.9080A>G (p.Gln3027Arg) c.9059A>G (p.Gln3020Arg) c.8714A>G (p.Gln2905Arg) c.5060A>G (p.Gln1687Arg) c.8954A>G (p.Gln2985Arg) c.8945A>G (p.Gln2982Arg) c.8960A>G (p.Gln2987Arg) c.3257A>G (p.Gln1086Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444482T>G | CA412655030 | DMD | c.3929A>C (p.Gln1310Pro) c.1703A>C (p.Gln568Pro) n.2548A>C n.2575A>C c.938A>C (p.Gln313Pro) c.9083A>C (p.Gln3028Pro) c.5051A>C (p.Gln1684Pro) n.2744A>C c.896A>C (p.Gln299Pro) c.2171A>C (p.Gln724Pro) c.9071A>C (p.Gln3024Pro) c.9068A>C (p.Gln3023Pro) c.9080A>C (p.Gln3027Pro) c.9059A>C (p.Gln3020Pro) c.8714A>C (p.Gln2905Pro) c.5060A>C (p.Gln1687Pro) c.8954A>C (p.Gln2985Pro) c.8945A>C (p.Gln2982Pro) c.8960A>C (p.Gln2987Pro) c.3257A>C (p.Gln1086Pro) | |
| X | g.31444482T= | CA2422434029 | DMD | c.3929A= (p.Gln1310=) c.1703A= (p.Gln568=) n.2548A= n.2575A= c.938A= (p.Gln313=) c.9083A= (p.Gln3028=) c.5051A= (p.Gln1684=) n.2744A= c.896A= (p.Gln299=) c.2171A= (p.Gln724=) c.9071A= (p.Gln3024=) c.9068A= (p.Gln3023=) c.9080A= (p.Gln3027=) c.9059A= (p.Gln3020=) c.8714A= (p.Gln2905=) c.5060A= (p.Gln1687=) c.8954A= (p.Gln2985=) c.8945A= (p.Gln2982=) c.8960A= (p.Gln2987=) c.3257A= (p.Gln1086=) | |
| X | g.31444483G>A | CA412655032 | DMD | c.3928C>T (p.Gln1310Ter) c.1702C>T (p.Gln568Ter) n.2547C>T n.2574C>T c.937C>T (p.Gln313Ter) c.9082C>T (p.Gln3028Ter) c.5050C>T (p.Gln1684Ter) n.2743C>T c.895C>T (p.Gln299Ter) c.2170C>T (p.Gln724Ter) c.9070C>T (p.Gln3024Ter) c.9067C>T (p.Gln3023Ter) c.9079C>T (p.Gln3027Ter) c.9058C>T (p.Gln3020Ter) c.8713C>T (p.Gln2905Ter) c.5059C>T (p.Gln1687Ter) c.8953C>T (p.Gln2985Ter) c.8944C>T (p.Gln2982Ter) c.8959C>T (p.Gln2987Ter) c.3256C>T (p.Gln1086Ter) | dbSNP |
| X | g.31444483G>C | CA412655033 | DMD | c.3928C>G (p.Gln1310Glu) c.1702C>G (p.Gln568Glu) n.2547C>G n.2574C>G c.937C>G (p.Gln313Glu) c.9082C>G (p.Gln3028Glu) c.5050C>G (p.Gln1684Glu) n.2743C>G c.895C>G (p.Gln299Glu) c.2170C>G (p.Gln724Glu) c.9070C>G (p.Gln3024Glu) c.9067C>G (p.Gln3023Glu) c.9079C>G (p.Gln3027Glu) c.9058C>G (p.Gln3020Glu) c.8713C>G (p.Gln2905Glu) c.5059C>G (p.Gln1687Glu) c.8953C>G (p.Gln2985Glu) c.8944C>G (p.Gln2982Glu) c.8959C>G (p.Gln2987Glu) c.3256C>G (p.Gln1086Glu) | |
| X | g.31444483G>T | CA412655034 | DMD | c.3928C>A (p.Gln1310Lys) c.1702C>A (p.Gln568Lys) n.2547C>A n.2574C>A c.937C>A (p.Gln313Lys) c.9082C>A (p.Gln3028Lys) c.5050C>A (p.Gln1684Lys) n.2743C>A c.895C>A (p.Gln299Lys) c.2170C>A (p.Gln724Lys) c.9070C>A (p.Gln3024Lys) c.9067C>A (p.Gln3023Lys) c.9079C>A (p.Gln3027Lys) c.9058C>A (p.Gln3020Lys) c.8713C>A (p.Gln2905Lys) c.5059C>A (p.Gln1687Lys) c.8953C>A (p.Gln2985Lys) c.8944C>A (p.Gln2982Lys) c.8959C>A (p.Gln2987Lys) c.3256C>A (p.Gln1086Lys) | |
| X | g.31444484C>A | CA10377927 | DMD | c.3927G>T (p.Leu1309=) c.1701G>T (p.Leu567=) n.2546G>T n.2573G>T c.936G>T (p.Leu312=) c.9081G>T (p.Leu3027=) c.5049G>T (p.Leu1683=) n.2742G>T c.894G>T (p.Leu298=) c.2169G>T (p.Leu723=) c.9069G>T (p.Leu3023=) c.9066G>T (p.Leu3022=) c.9078G>T (p.Leu3026=) c.9057G>T (p.Leu3019=) c.8712G>T (p.Leu2904=) c.5058G>T (p.Leu1686=) c.8952G>T (p.Leu2984=) c.8943G>T (p.Leu2981=) c.8958G>T (p.Leu2986=) c.3255G>T (p.Leu1085=) | dbSNP ExAC gnomAD v2 |
| X | g.31444484C= | CA2422434030 | DMD | c.3927G= (p.Leu1309=) c.1701G= (p.Leu567=) n.2546G= n.2573G= c.936G= (p.Leu312=) c.9081G= (p.Leu3027=) c.5049G= (p.Leu1683=) n.2742G= c.894G= (p.Leu298=) c.2169G= (p.Leu723=) c.9069G= (p.Leu3023=) c.9066G= (p.Leu3022=) c.9078G= (p.Leu3026=) c.9057G= (p.Leu3019=) c.8712G= (p.Leu2904=) c.5058G= (p.Leu1686=) c.8952G= (p.Leu2984=) c.8943G= (p.Leu2981=) c.8958G= (p.Leu2986=) c.3255G= (p.Leu1085=) | |
| X | g.31444484C>G | CA515858175 | DMD | c.3927G>C (p.Leu1309=) c.1701G>C (p.Leu567=) n.2546G>C n.2573G>C c.936G>C (p.Leu312=) c.9081G>C (p.Leu3027=) c.5049G>C (p.Leu1683=) n.2742G>C c.894G>C (p.Leu298=) c.2169G>C (p.Leu723=) c.9069G>C (p.Leu3023=) c.9066G>C (p.Leu3022=) c.9078G>C (p.Leu3026=) c.9057G>C (p.Leu3019=) c.8712G>C (p.Leu2904=) c.5058G>C (p.Leu1686=) c.8952G>C (p.Leu2984=) c.8943G>C (p.Leu2981=) c.8958G>C (p.Leu2986=) c.3255G>C (p.Leu1085=) | |
| X | g.31444484C>T | CA515858174 | DMD | c.3927G>A (p.Leu1309=) c.1701G>A (p.Leu567=) n.2546G>A n.2573G>A c.936G>A (p.Leu312=) c.9081G>A (p.Leu3027=) c.5049G>A (p.Leu1683=) n.2742G>A c.894G>A (p.Leu298=) c.2169G>A (p.Leu723=) c.9069G>A (p.Leu3023=) c.9066G>A (p.Leu3022=) c.9078G>A (p.Leu3026=) c.9057G>A (p.Leu3019=) c.8712G>A (p.Leu2904=) c.5058G>A (p.Leu1686=) c.8952G>A (p.Leu2984=) c.8943G>A (p.Leu2981=) c.8958G>A (p.Leu2986=) c.3255G>A (p.Leu1085=) | gnomAD v4 |
| X | g.31444485A>C | CA412655037 | DMD | c.3926T>G (p.Leu1309Arg) c.1700T>G (p.Leu567Arg) n.2545T>G n.2572T>G c.935T>G (p.Leu312Arg) c.9080T>G (p.Leu3027Arg) c.5048T>G (p.Leu1683Arg) n.2741T>G c.893T>G (p.Leu298Arg) c.2168T>G (p.Leu723Arg) c.9068T>G (p.Leu3023Arg) c.9065T>G (p.Leu3022Arg) c.9077T>G (p.Leu3026Arg) c.9056T>G (p.Leu3019Arg) c.8711T>G (p.Leu2904Arg) c.5057T>G (p.Leu1686Arg) c.8951T>G (p.Leu2984Arg) c.8942T>G (p.Leu2981Arg) c.8957T>G (p.Leu2986Arg) c.3254T>G (p.Leu1085Arg) | |
| X | g.31444485A>G | CA412655035 | DMD | c.3926T>C (p.Leu1309Pro) c.1700T>C (p.Leu567Pro) n.2545T>C n.2572T>C c.935T>C (p.Leu312Pro) c.9080T>C (p.Leu3027Pro) c.5048T>C (p.Leu1683Pro) n.2741T>C c.893T>C (p.Leu298Pro) c.2168T>C (p.Leu723Pro) c.9068T>C (p.Leu3023Pro) c.9065T>C (p.Leu3022Pro) c.9077T>C (p.Leu3026Pro) c.9056T>C (p.Leu3019Pro) c.8711T>C (p.Leu2904Pro) c.5057T>C (p.Leu1686Pro) c.8951T>C (p.Leu2984Pro) c.8942T>C (p.Leu2981Pro) c.8957T>C (p.Leu2986Pro) c.3254T>C (p.Leu1085Pro) | |
| X | g.31444485A>T | CA412655036 | DMD | c.3926T>A (p.Leu1309Gln) c.1700T>A (p.Leu567Gln) n.2545T>A n.2572T>A c.935T>A (p.Leu312Gln) c.9080T>A (p.Leu3027Gln) c.5048T>A (p.Leu1683Gln) n.2741T>A c.893T>A (p.Leu298Gln) c.2168T>A (p.Leu723Gln) c.9068T>A (p.Leu3023Gln) c.9065T>A (p.Leu3022Gln) c.9077T>A (p.Leu3026Gln) c.9056T>A (p.Leu3019Gln) c.8711T>A (p.Leu2904Gln) c.5057T>A (p.Leu1686Gln) c.8951T>A (p.Leu2984Gln) c.8942T>A (p.Leu2981Gln) c.8957T>A (p.Leu2986Gln) c.3254T>A (p.Leu1085Gln) | |
| X | g.31444486G>A | CA515858178 | DMD | c.3925C>T (p.Leu1309=) c.1699C>T (p.Leu567=) n.2544C>T n.2571C>T c.934C>T (p.Leu312=) c.9079C>T (p.Leu3027=) c.5047C>T (p.Leu1683=) n.2740C>T c.892C>T (p.Leu298=) c.2167C>T (p.Leu723=) c.9067C>T (p.Leu3023=) c.9064C>T (p.Leu3022=) c.9076C>T (p.Leu3026=) c.9055C>T (p.Leu3019=) c.8710C>T (p.Leu2904=) c.5056C>T (p.Leu1686=) c.8950C>T (p.Leu2984=) c.8941C>T (p.Leu2981=) c.8956C>T (p.Leu2986=) c.3253C>T (p.Leu1085=) | |
| X | g.31444486G>C | CA412655038 | DMD | c.3925C>G (p.Leu1309Val) c.1699C>G (p.Leu567Val) n.2544C>G n.2571C>G c.934C>G (p.Leu312Val) c.9079C>G (p.Leu3027Val) c.5047C>G (p.Leu1683Val) n.2740C>G c.892C>G (p.Leu298Val) c.2167C>G (p.Leu723Val) c.9067C>G (p.Leu3023Val) c.9064C>G (p.Leu3022Val) c.9076C>G (p.Leu3026Val) c.9055C>G (p.Leu3019Val) c.8710C>G (p.Leu2904Val) c.5056C>G (p.Leu1686Val) c.8950C>G (p.Leu2984Val) c.8941C>G (p.Leu2981Val) c.8956C>G (p.Leu2986Val) c.3253C>G (p.Leu1085Val) | |
| X | g.31444486G>T | CA412655039 | DMD | c.3925C>A (p.Leu1309Met) c.1699C>A (p.Leu567Met) n.2544C>A n.2571C>A c.934C>A (p.Leu312Met) c.9079C>A (p.Leu3027Met) c.5047C>A (p.Leu1683Met) n.2740C>A c.892C>A (p.Leu298Met) c.2167C>A (p.Leu723Met) c.9067C>A (p.Leu3023Met) c.9064C>A (p.Leu3022Met) c.9076C>A (p.Leu3026Met) c.9055C>A (p.Leu3019Met) c.8710C>A (p.Leu2904Met) c.5056C>A (p.Leu1686Met) c.8950C>A (p.Leu2984Met) c.8941C>A (p.Leu2981Met) c.8956C>A (p.Leu2986Met) c.3253C>A (p.Leu1085Met) | |
| X | g.31444487A>C | CA515858179 | DMD | c.3924T>G (p.Leu1308=) c.1698T>G (p.Leu566=) n.2543T>G n.2570T>G c.933T>G (p.Leu311=) c.9078T>G (p.Leu3026=) c.5046T>G (p.Leu1682=) n.2739T>G c.891T>G (p.Leu297=) c.2166T>G (p.Leu722=) c.9066T>G (p.Leu3022=) c.9063T>G (p.Leu3021=) c.9075T>G (p.Leu3025=) c.9054T>G (p.Leu3018=) c.8709T>G (p.Leu2903=) c.5055T>G (p.Leu1685=) c.8949T>G (p.Leu2983=) c.8940T>G (p.Leu2980=) c.8955T>G (p.Leu2985=) c.3252T>G (p.Leu1084=) | |
| X | g.31444487A>G | CA515858180 | DMD | c.3924T>C (p.Leu1308=) c.1698T>C (p.Leu566=) n.2543T>C n.2570T>C c.933T>C (p.Leu311=) c.9078T>C (p.Leu3026=) c.5046T>C (p.Leu1682=) n.2739T>C c.891T>C (p.Leu297=) c.2166T>C (p.Leu722=) c.9066T>C (p.Leu3022=) c.9063T>C (p.Leu3021=) c.9075T>C (p.Leu3025=) c.9054T>C (p.Leu3018=) c.8709T>C (p.Leu2903=) c.5055T>C (p.Leu1685=) c.8949T>C (p.Leu2983=) c.8940T>C (p.Leu2980=) c.8955T>C (p.Leu2985=) c.3252T>C (p.Leu1084=) | |
| X | g.31444487A>T | CA515858181 | DMD | c.3924T>A (p.Leu1308=) c.1698T>A (p.Leu566=) n.2543T>A n.2570T>A c.933T>A (p.Leu311=) c.9078T>A (p.Leu3026=) c.5046T>A (p.Leu1682=) n.2739T>A c.891T>A (p.Leu297=) c.2166T>A (p.Leu722=) c.9066T>A (p.Leu3022=) c.9063T>A (p.Leu3021=) c.9075T>A (p.Leu3025=) c.9054T>A (p.Leu3018=) c.8709T>A (p.Leu2903=) c.5055T>A (p.Leu1685=) c.8949T>A (p.Leu2983=) c.8940T>A (p.Leu2980=) c.8955T>A (p.Leu2985=) c.3252T>A (p.Leu1084=) | gnomAD v4 |
| X | g.31444488A>C | CA412655040 | DMD | c.3923T>G (p.Leu1308Arg) c.1697T>G (p.Leu566Arg) n.2542T>G n.2569T>G c.932T>G (p.Leu311Arg) c.9077T>G (p.Leu3026Arg) c.5045T>G (p.Leu1682Arg) n.2738T>G c.890T>G (p.Leu297Arg) c.2165T>G (p.Leu722Arg) c.9065T>G (p.Leu3022Arg) c.9062T>G (p.Leu3021Arg) c.9074T>G (p.Leu3025Arg) c.9053T>G (p.Leu3018Arg) c.8708T>G (p.Leu2903Arg) c.5054T>G (p.Leu1685Arg) c.8948T>G (p.Leu2983Arg) c.8939T>G (p.Leu2980Arg) c.8954T>G (p.Leu2985Arg) c.3251T>G (p.Leu1084Arg) | |
| X | g.31444488A>G | CA412655041 | DMD | c.3923T>C (p.Leu1308Pro) c.1697T>C (p.Leu566Pro) n.2542T>C n.2569T>C c.932T>C (p.Leu311Pro) c.9077T>C (p.Leu3026Pro) c.5045T>C (p.Leu1682Pro) n.2738T>C c.890T>C (p.Leu297Pro) c.2165T>C (p.Leu722Pro) c.9065T>C (p.Leu3022Pro) c.9062T>C (p.Leu3021Pro) c.9074T>C (p.Leu3025Pro) c.9053T>C (p.Leu3018Pro) c.8708T>C (p.Leu2903Pro) c.5054T>C (p.Leu1685Pro) c.8948T>C (p.Leu2983Pro) c.8939T>C (p.Leu2980Pro) c.8954T>C (p.Leu2985Pro) c.3251T>C (p.Leu1084Pro) | |
| X | g.31444488A>T | CA412655042 | DMD | c.3923T>A (p.Leu1308His) c.1697T>A (p.Leu566His) n.2542T>A n.2569T>A c.932T>A (p.Leu311His) c.9077T>A (p.Leu3026His) c.5045T>A (p.Leu1682His) n.2738T>A c.890T>A (p.Leu297His) c.2165T>A (p.Leu722His) c.9065T>A (p.Leu3022His) c.9062T>A (p.Leu3021His) c.9074T>A (p.Leu3025His) c.9053T>A (p.Leu3018His) c.8708T>A (p.Leu2903His) c.5054T>A (p.Leu1685His) c.8948T>A (p.Leu2983His) c.8939T>A (p.Leu2980His) c.8954T>A (p.Leu2985His) c.3251T>A (p.Leu1084His) | gnomAD v4 |
| X | g.31444489G>A | CA10377928 | DMD | c.3922C>T (p.Leu1308Phe) c.1696C>T (p.Leu566Phe) n.2541C>T n.2568C>T c.931C>T (p.Leu311Phe) c.9076C>T (p.Leu3026Phe) c.5044C>T (p.Leu1682Phe) n.2737C>T c.889C>T (p.Leu297Phe) c.2164C>T (p.Leu722Phe) c.9064C>T (p.Leu3022Phe) c.9061C>T (p.Leu3021Phe) c.9073C>T (p.Leu3025Phe) c.9052C>T (p.Leu3018Phe) c.8707C>T (p.Leu2903Phe) c.5053C>T (p.Leu1685Phe) c.8947C>T (p.Leu2983Phe) c.8938C>T (p.Leu2980Phe) c.8953C>T (p.Leu2985Phe) c.3250C>T (p.Leu1084Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31444489G>C | CA412655044 | DMD | c.3922C>G (p.Leu1308Val) c.1696C>G (p.Leu566Val) n.2541C>G n.2568C>G c.931C>G (p.Leu311Val) c.9076C>G (p.Leu3026Val) c.5044C>G (p.Leu1682Val) n.2737C>G c.889C>G (p.Leu297Val) c.2164C>G (p.Leu722Val) c.9064C>G (p.Leu3022Val) c.9061C>G (p.Leu3021Val) c.9073C>G (p.Leu3025Val) c.9052C>G (p.Leu3018Val) c.8707C>G (p.Leu2903Val) c.5053C>G (p.Leu1685Val) c.8947C>G (p.Leu2983Val) c.8938C>G (p.Leu2980Val) c.8953C>G (p.Leu2985Val) c.3250C>G (p.Leu1084Val) | gnomAD v4 |
| X | g.31444489G= | CA2422434031 | DMD | c.3922C= (p.Leu1308=) c.1696C= (p.Leu566=) n.2541C= n.2568C= c.931C= (p.Leu311=) c.9076C= (p.Leu3026=) c.5044C= (p.Leu1682=) n.2737C= c.889C= (p.Leu297=) c.2164C= (p.Leu722=) c.9064C= (p.Leu3022=) c.9061C= (p.Leu3021=) c.9073C= (p.Leu3025=) c.9052C= (p.Leu3018=) c.8707C= (p.Leu2903=) c.5053C= (p.Leu1685=) c.8947C= (p.Leu2983=) c.8938C= (p.Leu2980=) c.8953C= (p.Leu2985=) c.3250C= (p.Leu1084=) | |
| X | g.31444489G>T | CA412655043 | DMD | c.3922C>A (p.Leu1308Ile) c.1696C>A (p.Leu566Ile) n.2541C>A n.2568C>A c.931C>A (p.Leu311Ile) c.9076C>A (p.Leu3026Ile) c.5044C>A (p.Leu1682Ile) n.2737C>A c.889C>A (p.Leu297Ile) c.2164C>A (p.Leu722Ile) c.9064C>A (p.Leu3022Ile) c.9061C>A (p.Leu3021Ile) c.9073C>A (p.Leu3025Ile) c.9052C>A (p.Leu3018Ile) c.8707C>A (p.Leu2903Ile) c.5053C>A (p.Leu1685Ile) c.8947C>A (p.Leu2983Ile) c.8938C>A (p.Leu2980Ile) c.8953C>A (p.Leu2985Ile) c.3250C>A (p.Leu1084Ile) | |
| X | g.31444490C>A | CA412655045 | DMD | c.3921G>T (p.Lys1307Asn) c.1695G>T (p.Lys565Asn) n.2540G>T n.2567G>T c.930G>T (p.Lys310Asn) c.9075G>T (p.Lys3025Asn) c.5043G>T (p.Lys1681Asn) n.2736G>T c.888G>T (p.Lys296Asn) c.2163G>T (p.Lys721Asn) c.9063G>T (p.Lys3021Asn) c.9060G>T (p.Lys3020Asn) c.9072G>T (p.Lys3024Asn) c.9051G>T (p.Lys3017Asn) c.8706G>T (p.Lys2902Asn) c.5052G>T (p.Lys1684Asn) c.8946G>T (p.Lys2982Asn) c.8937G>T (p.Lys2979Asn) c.8952G>T (p.Lys2984Asn) c.3249G>T (p.Lys1083Asn) | |
| X | g.31444490C= | CA2422434032 | DMD | c.3921G= (p.Lys1307=) c.1695G= (p.Lys565=) n.2540G= n.2567G= c.930G= (p.Lys310=) c.9075G= (p.Lys3025=) c.5043G= (p.Lys1681=) n.2736G= c.888G= (p.Lys296=) c.2163G= (p.Lys721=) c.9063G= (p.Lys3021=) c.9060G= (p.Lys3020=) c.9072G= (p.Lys3024=) c.9051G= (p.Lys3017=) c.8706G= (p.Lys2902=) c.5052G= (p.Lys1684=) c.8946G= (p.Lys2982=) c.8937G= (p.Lys2979=) c.8952G= (p.Lys2984=) c.3249G= (p.Lys1083=) | |
| X | g.31444490C>G | CA10377929 | DMD | c.3921G>C (p.Lys1307Asn) c.1695G>C (p.Lys565Asn) n.2540G>C n.2567G>C c.930G>C (p.Lys310Asn) c.9075G>C (p.Lys3025Asn) c.5043G>C (p.Lys1681Asn) n.2736G>C c.888G>C (p.Lys296Asn) c.2163G>C (p.Lys721Asn) c.9063G>C (p.Lys3021Asn) c.9060G>C (p.Lys3020Asn) c.9072G>C (p.Lys3024Asn) c.9051G>C (p.Lys3017Asn) c.8706G>C (p.Lys2902Asn) c.5052G>C (p.Lys1684Asn) c.8946G>C (p.Lys2982Asn) c.8937G>C (p.Lys2979Asn) c.8952G>C (p.Lys2984Asn) c.3249G>C (p.Lys1083Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444490C>T | CA515858183 | DMD | c.3921G>A (p.Lys1307=) c.1695G>A (p.Lys565=) n.2540G>A n.2567G>A c.930G>A (p.Lys310=) c.9075G>A (p.Lys3025=) c.5043G>A (p.Lys1681=) n.2736G>A c.888G>A (p.Lys296=) c.2163G>A (p.Lys721=) c.9063G>A (p.Lys3021=) c.9060G>A (p.Lys3020=) c.9072G>A (p.Lys3024=) c.9051G>A (p.Lys3017=) c.8706G>A (p.Lys2902=) c.5052G>A (p.Lys1684=) c.8946G>A (p.Lys2982=) c.8937G>A (p.Lys2979=) c.8952G>A (p.Lys2984=) c.3249G>A (p.Lys1083=) | ClinVar dbSNP |
| X | g.31444491T>A | CA412655046 | DMD | c.3920A>T (p.Lys1307Met) c.1694A>T (p.Lys565Met) n.2539A>T n.2566A>T c.929A>T (p.Lys310Met) c.9074A>T (p.Lys3025Met) c.5042A>T (p.Lys1681Met) n.2735A>T c.887A>T (p.Lys296Met) c.2162A>T (p.Lys721Met) c.9062A>T (p.Lys3021Met) c.9059A>T (p.Lys3020Met) c.9071A>T (p.Lys3024Met) c.9050A>T (p.Lys3017Met) c.8705A>T (p.Lys2902Met) c.5051A>T (p.Lys1684Met) c.8945A>T (p.Lys2982Met) c.8936A>T (p.Lys2979Met) c.8951A>T (p.Lys2984Met) c.3248A>T (p.Lys1083Met) | |
| X | g.31444491T>C | CA10377930 | DMD | c.3920A>G (p.Lys1307Arg) c.1694A>G (p.Lys565Arg) n.2539A>G n.2566A>G c.929A>G (p.Lys310Arg) c.9074A>G (p.Lys3025Arg) c.5042A>G (p.Lys1681Arg) n.2735A>G c.887A>G (p.Lys296Arg) c.2162A>G (p.Lys721Arg) c.9062A>G (p.Lys3021Arg) c.9059A>G (p.Lys3020Arg) c.9071A>G (p.Lys3024Arg) c.9050A>G (p.Lys3017Arg) c.8705A>G (p.Lys2902Arg) c.5051A>G (p.Lys1684Arg) c.8945A>G (p.Lys2982Arg) c.8936A>G (p.Lys2979Arg) c.8951A>G (p.Lys2984Arg) c.3248A>G (p.Lys1083Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31444491T>G | CA412655047 | DMD | c.3920A>C (p.Lys1307Thr) c.1694A>C (p.Lys565Thr) n.2539A>C n.2566A>C c.929A>C (p.Lys310Thr) c.9074A>C (p.Lys3025Thr) c.5042A>C (p.Lys1681Thr) n.2735A>C c.887A>C (p.Lys296Thr) c.2162A>C (p.Lys721Thr) c.9062A>C (p.Lys3021Thr) c.9059A>C (p.Lys3020Thr) c.9071A>C (p.Lys3024Thr) c.9050A>C (p.Lys3017Thr) c.8705A>C (p.Lys2902Thr) c.5051A>C (p.Lys1684Thr) c.8945A>C (p.Lys2982Thr) c.8936A>C (p.Lys2979Thr) c.8951A>C (p.Lys2984Thr) c.3248A>C (p.Lys1083Thr) | |
| X | g.31444491T= | CA2422434033 | DMD | c.3920A= (p.Lys1307=) c.1694A= (p.Lys565=) n.2539A= n.2566A= c.929A= (p.Lys310=) c.9074A= (p.Lys3025=) c.5042A= (p.Lys1681=) n.2735A= c.887A= (p.Lys296=) c.2162A= (p.Lys721=) c.9062A= (p.Lys3021=) c.9059A= (p.Lys3020=) c.9071A= (p.Lys3024=) c.9050A= (p.Lys3017=) c.8705A= (p.Lys2902=) c.5051A= (p.Lys1684=) c.8945A= (p.Lys2982=) c.8936A= (p.Lys2979=) c.8951A= (p.Lys2984=) c.3248A= (p.Lys1083=) | |
| X | g.31444492T>A | CA412655048 | DMD | c.3919A>T (p.Lys1307Ter) c.1693A>T (p.Lys565Ter) n.2538A>T n.2565A>T c.928A>T (p.Lys310Ter) c.9073A>T (p.Lys3025Ter) c.5041A>T (p.Lys1681Ter) n.2734A>T c.886A>T (p.Lys296Ter) c.2161A>T (p.Lys721Ter) c.9061A>T (p.Lys3021Ter) c.9058A>T (p.Lys3020Ter) c.9070A>T (p.Lys3024Ter) c.9049A>T (p.Lys3017Ter) c.8704A>T (p.Lys2902Ter) c.5050A>T (p.Lys1684Ter) c.8944A>T (p.Lys2982Ter) c.8935A>T (p.Lys2979Ter) c.8950A>T (p.Lys2984Ter) c.3247A>T (p.Lys1083Ter) | |
| X | g.31444492T>C | CA412655049 | DMD | c.3919A>G (p.Lys1307Glu) c.1693A>G (p.Lys565Glu) n.2538A>G n.2565A>G c.928A>G (p.Lys310Glu) c.9073A>G (p.Lys3025Glu) c.5041A>G (p.Lys1681Glu) n.2734A>G c.886A>G (p.Lys296Glu) c.2161A>G (p.Lys721Glu) c.9061A>G (p.Lys3021Glu) c.9058A>G (p.Lys3020Glu) c.9070A>G (p.Lys3024Glu) c.9049A>G (p.Lys3017Glu) c.8704A>G (p.Lys2902Glu) c.5050A>G (p.Lys1684Glu) c.8944A>G (p.Lys2982Glu) c.8935A>G (p.Lys2979Glu) c.8950A>G (p.Lys2984Glu) c.3247A>G (p.Lys1083Glu) | |
| X | g.31444492T>G | CA10377931 | DMD | c.3919A>C (p.Lys1307Gln) c.1693A>C (p.Lys565Gln) n.2538A>C n.2565A>C c.928A>C (p.Lys310Gln) c.9073A>C (p.Lys3025Gln) c.5041A>C (p.Lys1681Gln) n.2734A>C c.886A>C (p.Lys296Gln) c.2161A>C (p.Lys721Gln) c.9061A>C (p.Lys3021Gln) c.9058A>C (p.Lys3020Gln) c.9070A>C (p.Lys3024Gln) c.9049A>C (p.Lys3017Gln) c.8704A>C (p.Lys2902Gln) c.5050A>C (p.Lys1684Gln) c.8944A>C (p.Lys2982Gln) c.8935A>C (p.Lys2979Gln) c.8950A>C (p.Lys2984Gln) c.3247A>C (p.Lys1083Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31444492T= | CA2422434034 | DMD | c.3919A= (p.Lys1307=) c.1693A= (p.Lys565=) n.2538A= n.2565A= c.928A= (p.Lys310=) c.9073A= (p.Lys3025=) c.5041A= (p.Lys1681=) n.2734A= c.886A= (p.Lys296=) c.2161A= (p.Lys721=) c.9061A= (p.Lys3021=) c.9058A= (p.Lys3020=) c.9070A= (p.Lys3024=) c.9049A= (p.Lys3017=) c.8704A= (p.Lys2902=) c.5050A= (p.Lys1684=) c.8944A= (p.Lys2982=) c.8935A= (p.Lys2979=) c.8950A= (p.Lys2984=) c.3247A= (p.Lys1083=) | |
| X | g.31444493C>A | CA412655050 | DMD | c.3918G>T (p.Trp1306Cys) c.1692G>T (p.Trp564Cys) n.2537G>T n.2564G>T c.927G>T (p.Trp309Cys) c.9072G>T (p.Trp3024Cys) c.5040G>T (p.Trp1680Cys) n.2733G>T c.885G>T (p.Trp295Cys) c.2160G>T (p.Trp720Cys) c.9060G>T (p.Trp3020Cys) c.9057G>T (p.Trp3019Cys) c.9069G>T (p.Trp3023Cys) c.9048G>T (p.Trp3016Cys) c.8703G>T (p.Trp2901Cys) c.5049G>T (p.Trp1683Cys) c.8943G>T (p.Trp2981Cys) c.8934G>T (p.Trp2978Cys) c.8949G>T (p.Trp2983Cys) c.3246G>T (p.Trp1082Cys) | |
| X | g.31444493C>G | CA412655051 | DMD | c.3918G>C (p.Trp1306Cys) c.1692G>C (p.Trp564Cys) n.2537G>C n.2564G>C c.927G>C (p.Trp309Cys) c.9072G>C (p.Trp3024Cys) c.5040G>C (p.Trp1680Cys) n.2733G>C c.885G>C (p.Trp295Cys) c.2160G>C (p.Trp720Cys) c.9060G>C (p.Trp3020Cys) c.9057G>C (p.Trp3019Cys) c.9069G>C (p.Trp3023Cys) c.9048G>C (p.Trp3016Cys) c.8703G>C (p.Trp2901Cys) c.5049G>C (p.Trp1683Cys) c.8943G>C (p.Trp2981Cys) c.8934G>C (p.Trp2978Cys) c.8949G>C (p.Trp2983Cys) c.3246G>C (p.Trp1082Cys) | |
| X | g.31444493C>T | CA412655052 | DMD | c.3918G>A (p.Trp1306Ter) c.1692G>A (p.Trp564Ter) n.2537G>A n.2564G>A c.927G>A (p.Trp309Ter) c.9072G>A (p.Trp3024Ter) c.5040G>A (p.Trp1680Ter) n.2733G>A c.885G>A (p.Trp295Ter) c.2160G>A (p.Trp720Ter) c.9060G>A (p.Trp3020Ter) c.9057G>A (p.Trp3019Ter) c.9069G>A (p.Trp3023Ter) c.9048G>A (p.Trp3016Ter) c.8703G>A (p.Trp2901Ter) c.5049G>A (p.Trp1683Ter) c.8943G>A (p.Trp2981Ter) c.8934G>A (p.Trp2978Ter) c.8949G>A (p.Trp2983Ter) c.3246G>A (p.Trp1082Ter) | dbSNP |
| X | g.31444494C>A | CA412655055 | DMD | c.3917G>T (p.Trp1306Leu) c.1691G>T (p.Trp564Leu) n.2536G>T n.2563G>T c.926G>T (p.Trp309Leu) c.9071G>T (p.Trp3024Leu) c.5039G>T (p.Trp1680Leu) n.2732G>T c.884G>T (p.Trp295Leu) c.2159G>T (p.Trp720Leu) c.9059G>T (p.Trp3020Leu) c.9056G>T (p.Trp3019Leu) c.9068G>T (p.Trp3023Leu) c.9047G>T (p.Trp3016Leu) c.8702G>T (p.Trp2901Leu) c.5048G>T (p.Trp1683Leu) c.8942G>T (p.Trp2981Leu) c.8933G>T (p.Trp2978Leu) c.8948G>T (p.Trp2983Leu) c.3245G>T (p.Trp1082Leu) | |
| X | g.31444494C>G | CA412655054 | DMD | c.3917G>C (p.Trp1306Ser) c.1691G>C (p.Trp564Ser) n.2536G>C n.2563G>C c.926G>C (p.Trp309Ser) c.9071G>C (p.Trp3024Ser) c.5039G>C (p.Trp1680Ser) n.2732G>C c.884G>C (p.Trp295Ser) c.2159G>C (p.Trp720Ser) c.9059G>C (p.Trp3020Ser) c.9056G>C (p.Trp3019Ser) c.9068G>C (p.Trp3023Ser) c.9047G>C (p.Trp3016Ser) c.8702G>C (p.Trp2901Ser) c.5048G>C (p.Trp1683Ser) c.8942G>C (p.Trp2981Ser) c.8933G>C (p.Trp2978Ser) c.8948G>C (p.Trp2983Ser) c.3245G>C (p.Trp1082Ser) | |
| X | g.31444494C>T | CA412655053 | DMD | c.3917G>A (p.Trp1306Ter) c.1691G>A (p.Trp564Ter) n.2536G>A n.2563G>A c.926G>A (p.Trp309Ter) c.9071G>A (p.Trp3024Ter) c.5039G>A (p.Trp1680Ter) n.2732G>A c.884G>A (p.Trp295Ter) c.2159G>A (p.Trp720Ter) c.9059G>A (p.Trp3020Ter) c.9056G>A (p.Trp3019Ter) c.9068G>A (p.Trp3023Ter) c.9047G>A (p.Trp3016Ter) c.8702G>A (p.Trp2901Ter) c.5048G>A (p.Trp1683Ter) c.8942G>A (p.Trp2981Ter) c.8933G>A (p.Trp2978Ter) c.8948G>A (p.Trp2983Ter) c.3245G>A (p.Trp1082Ter) | |
| X | g.31444495A= | CA2422434035 | DMD | c.3916T= (p.Trp1306=) c.1690T= (p.Trp564=) n.2535T= n.2562T= c.925T= (p.Trp309=) c.9070T= (p.Trp3024=) c.5038T= (p.Trp1680=) n.2731T= c.883T= (p.Trp295=) c.2158T= (p.Trp720=) c.9058T= (p.Trp3020=) c.9055T= (p.Trp3019=) c.9067T= (p.Trp3023=) c.9046T= (p.Trp3016=) c.8701T= (p.Trp2901=) c.5047T= (p.Trp1683=) c.8941T= (p.Trp2981=) c.8932T= (p.Trp2978=) c.8947T= (p.Trp2983=) c.3244T= (p.Trp1082=) | |
| X | g.31444495A>C | CA412655056 | DMD | c.3916T>G (p.Trp1306Gly) c.1690T>G (p.Trp564Gly) n.2535T>G n.2562T>G c.925T>G (p.Trp309Gly) c.9070T>G (p.Trp3024Gly) c.5038T>G (p.Trp1680Gly) n.2731T>G c.883T>G (p.Trp295Gly) c.2158T>G (p.Trp720Gly) c.9058T>G (p.Trp3020Gly) c.9055T>G (p.Trp3019Gly) c.9067T>G (p.Trp3023Gly) c.9046T>G (p.Trp3016Gly) c.8701T>G (p.Trp2901Gly) c.5047T>G (p.Trp1683Gly) c.8941T>G (p.Trp2981Gly) c.8932T>G (p.Trp2978Gly) c.8947T>G (p.Trp2983Gly) c.3244T>G (p.Trp1082Gly) | |
| X | g.31444495A>G | CA412655057 | DMD | c.3916T>C (p.Trp1306Arg) c.1690T>C (p.Trp564Arg) n.2535T>C n.2562T>C c.925T>C (p.Trp309Arg) c.9070T>C (p.Trp3024Arg) c.5038T>C (p.Trp1680Arg) n.2731T>C c.883T>C (p.Trp295Arg) c.2158T>C (p.Trp720Arg) c.9058T>C (p.Trp3020Arg) c.9055T>C (p.Trp3019Arg) c.9067T>C (p.Trp3023Arg) c.9046T>C (p.Trp3016Arg) c.8701T>C (p.Trp2901Arg) c.5047T>C (p.Trp1683Arg) c.8941T>C (p.Trp2981Arg) c.8932T>C (p.Trp2978Arg) c.8947T>C (p.Trp2983Arg) c.3244T>C (p.Trp1082Arg) | dbSNP gnomAD v4 |
| X | g.31444495A>T | CA412655058 | DMD | c.3916T>A (p.Trp1306Arg) c.1690T>A (p.Trp564Arg) n.2535T>A n.2562T>A c.925T>A (p.Trp309Arg) c.9070T>A (p.Trp3024Arg) c.5038T>A (p.Trp1680Arg) n.2731T>A c.883T>A (p.Trp295Arg) c.2158T>A (p.Trp720Arg) c.9058T>A (p.Trp3020Arg) c.9055T>A (p.Trp3019Arg) c.9067T>A (p.Trp3023Arg) c.9046T>A (p.Trp3016Arg) c.8701T>A (p.Trp2901Arg) c.5047T>A (p.Trp1683Arg) c.8941T>A (p.Trp2981Arg) c.8932T>A (p.Trp2978Arg) c.8947T>A (p.Trp2983Arg) c.3244T>A (p.Trp1082Arg) | |
| X | g.31444496T>A | CA412655059 | DMD | c.3915A>T (p.Arg1305Ser) c.1689A>T (p.Arg563Ser) n.2534A>T n.2561A>T c.924A>T (p.Arg308Ser) c.9069A>T (p.Arg3023Ser) c.5037A>T (p.Arg1679Ser) n.2730A>T c.882A>T (p.Arg294Ser) c.2157A>T (p.Arg719Ser) c.9057A>T (p.Arg3019Ser) c.9054A>T (p.Arg3018Ser) c.9066A>T (p.Arg3022Ser) c.9045A>T (p.Arg3015Ser) c.8700A>T (p.Arg2900Ser) c.5046A>T (p.Arg1682Ser) c.8940A>T (p.Arg2980Ser) c.8931A>T (p.Arg2977Ser) c.8946A>T (p.Arg2982Ser) c.3243A>T (p.Arg1081Ser) | gnomAD v4 |
| X | g.31444496T>C | CA515858185 | DMD | c.3915A>G (p.Arg1305=) c.1689A>G (p.Arg563=) n.2534A>G n.2561A>G c.924A>G (p.Arg308=) c.9069A>G (p.Arg3023=) c.5037A>G (p.Arg1679=) n.2730A>G c.882A>G (p.Arg294=) c.2157A>G (p.Arg719=) c.9057A>G (p.Arg3019=) c.9054A>G (p.Arg3018=) c.9066A>G (p.Arg3022=) c.9045A>G (p.Arg3015=) c.8700A>G (p.Arg2900=) c.5046A>G (p.Arg1682=) c.8940A>G (p.Arg2980=) c.8931A>G (p.Arg2977=) c.8946A>G (p.Arg2982=) c.3243A>G (p.Arg1081=) | ClinVar dbSNP gnomAD v4 |
| X | g.31444496T>G | CA412655060 | DMD | c.3915A>C (p.Arg1305Ser) c.1689A>C (p.Arg563Ser) n.2534A>C n.2561A>C c.924A>C (p.Arg308Ser) c.9069A>C (p.Arg3023Ser) c.5037A>C (p.Arg1679Ser) n.2730A>C c.882A>C (p.Arg294Ser) c.2157A>C (p.Arg719Ser) c.9057A>C (p.Arg3019Ser) c.9054A>C (p.Arg3018Ser) c.9066A>C (p.Arg3022Ser) c.9045A>C (p.Arg3015Ser) c.8700A>C (p.Arg2900Ser) c.5046A>C (p.Arg1682Ser) c.8940A>C (p.Arg2980Ser) c.8931A>C (p.Arg2977Ser) c.8946A>C (p.Arg2982Ser) c.3243A>C (p.Arg1081Ser) | |
| X | g.31444496T= | CA2422434036 | DMD | c.3915A= (p.Arg1305=) c.1689A= (p.Arg563=) n.2534A= n.2561A= c.924A= (p.Arg308=) c.9069A= (p.Arg3023=) c.5037A= (p.Arg1679=) n.2730A= c.882A= (p.Arg294=) c.2157A= (p.Arg719=) c.9057A= (p.Arg3019=) c.9054A= (p.Arg3018=) c.9066A= (p.Arg3022=) c.9045A= (p.Arg3015=) c.8700A= (p.Arg2900=) c.5046A= (p.Arg1682=) c.8940A= (p.Arg2980=) c.8931A= (p.Arg2977=) c.8946A= (p.Arg2982=) c.3243A= (p.Arg1081=) | |
| X | g.31444497C>A | CA412655061 | DMD | c.3914G>T (p.Arg1305Ile) c.1688G>T (p.Arg563Ile) n.2533G>T n.2560G>T c.923G>T (p.Arg308Ile) c.9068G>T (p.Arg3023Ile) c.5036G>T (p.Arg1679Ile) n.2729G>T c.881G>T (p.Arg294Ile) c.2156G>T (p.Arg719Ile) c.9056G>T (p.Arg3019Ile) c.9053G>T (p.Arg3018Ile) c.9065G>T (p.Arg3022Ile) c.9044G>T (p.Arg3015Ile) c.8699G>T (p.Arg2900Ile) c.5045G>T (p.Arg1682Ile) c.8939G>T (p.Arg2980Ile) c.8930G>T (p.Arg2977Ile) c.8945G>T (p.Arg2982Ile) c.3242G>T (p.Arg1081Ile) | |
| X | g.31444497C>G | CA412655062 | DMD | c.3914G>C (p.Arg1305Thr) c.1688G>C (p.Arg563Thr) n.2533G>C n.2560G>C c.923G>C (p.Arg308Thr) c.9068G>C (p.Arg3023Thr) c.5036G>C (p.Arg1679Thr) n.2729G>C c.881G>C (p.Arg294Thr) c.2156G>C (p.Arg719Thr) c.9056G>C (p.Arg3019Thr) c.9053G>C (p.Arg3018Thr) c.9065G>C (p.Arg3022Thr) c.9044G>C (p.Arg3015Thr) c.8699G>C (p.Arg2900Thr) c.5045G>C (p.Arg1682Thr) c.8939G>C (p.Arg2980Thr) c.8930G>C (p.Arg2977Thr) c.8945G>C (p.Arg2982Thr) c.3242G>C (p.Arg1081Thr) | |
| X | g.31444497C>T | CA412655063 | DMD | c.3914G>A (p.Arg1305Lys) c.1688G>A (p.Arg563Lys) n.2533G>A n.2560G>A c.923G>A (p.Arg308Lys) c.9068G>A (p.Arg3023Lys) c.5036G>A (p.Arg1679Lys) n.2729G>A c.881G>A (p.Arg294Lys) c.2156G>A (p.Arg719Lys) c.9056G>A (p.Arg3019Lys) c.9053G>A (p.Arg3018Lys) c.9065G>A (p.Arg3022Lys) c.9044G>A (p.Arg3015Lys) c.8699G>A (p.Arg2900Lys) c.5045G>A (p.Arg1682Lys) c.8939G>A (p.Arg2980Lys) c.8930G>A (p.Arg2977Lys) c.8945G>A (p.Arg2982Lys) c.3242G>A (p.Arg1081Lys) | |
| X | g.31444498T>A | CA412655064 | DMD | c.3913A>T (p.Arg1305Ter) c.1687A>T (p.Arg563Ter) n.2532A>T n.2559A>T c.922A>T (p.Arg308Ter) c.9067A>T (p.Arg3023Ter) c.5035A>T (p.Arg1679Ter) n.2728A>T c.880A>T (p.Arg294Ter) c.2155A>T (p.Arg719Ter) c.9055A>T (p.Arg3019Ter) c.9052A>T (p.Arg3018Ter) c.9064A>T (p.Arg3022Ter) c.9043A>T (p.Arg3015Ter) c.8698A>T (p.Arg2900Ter) c.5044A>T (p.Arg1682Ter) c.8938A>T (p.Arg2980Ter) c.8929A>T (p.Arg2977Ter) c.8944A>T (p.Arg2982Ter) c.3241A>T (p.Arg1081Ter) | |
| X | g.31444498T>C | CA412655065 | DMD | c.3913A>G (p.Arg1305Gly) c.1687A>G (p.Arg563Gly) n.2532A>G n.2559A>G c.922A>G (p.Arg308Gly) c.9067A>G (p.Arg3023Gly) c.5035A>G (p.Arg1679Gly) n.2728A>G c.880A>G (p.Arg294Gly) c.2155A>G (p.Arg719Gly) c.9055A>G (p.Arg3019Gly) c.9052A>G (p.Arg3018Gly) c.9064A>G (p.Arg3022Gly) c.9043A>G (p.Arg3015Gly) c.8698A>G (p.Arg2900Gly) c.5044A>G (p.Arg1682Gly) c.8938A>G (p.Arg2980Gly) c.8929A>G (p.Arg2977Gly) c.8944A>G (p.Arg2982Gly) c.3241A>G (p.Arg1081Gly) | |
| X | g.31444498T>G | CA515858188 | DMD | c.3913A>C (p.Arg1305=) c.1687A>C (p.Arg563=) n.2532A>C n.2559A>C c.922A>C (p.Arg308=) c.9067A>C (p.Arg3023=) c.5035A>C (p.Arg1679=) n.2728A>C c.880A>C (p.Arg294=) c.2155A>C (p.Arg719=) c.9055A>C (p.Arg3019=) c.9052A>C (p.Arg3018=) c.9064A>C (p.Arg3022=) c.9043A>C (p.Arg3015=) c.8698A>C (p.Arg2900=) c.5044A>C (p.Arg1682=) c.8938A>C (p.Arg2980=) c.8929A>C (p.Arg2977=) c.8944A>C (p.Arg2982=) c.3241A>C (p.Arg1081=) | |
| X | g.31444499G>A | CA515858191 | DMD | c.3912C>T (p.Thr1304=) c.1686C>T (p.Thr562=) n.2531C>T n.2558C>T c.921C>T (p.Thr307=) c.9066C>T (p.Thr3022=) c.5034C>T (p.Thr1678=) n.2727C>T c.879C>T (p.Thr293=) c.2154C>T (p.Thr718=) c.9054C>T (p.Thr3018=) c.9051C>T (p.Thr3017=) c.9063C>T (p.Thr3021=) c.9042C>T (p.Thr3014=) c.8697C>T (p.Thr2899=) c.5043C>T (p.Thr1681=) c.8937C>T (p.Thr2979=) c.8928C>T (p.Thr2976=) c.8943C>T (p.Thr2981=) c.3240C>T (p.Thr1080=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31444499G>C | CA515858190 | DMD | c.3912C>G (p.Thr1304=) c.1686C>G (p.Thr562=) n.2531C>G n.2558C>G c.921C>G (p.Thr307=) c.9066C>G (p.Thr3022=) c.5034C>G (p.Thr1678=) n.2727C>G c.879C>G (p.Thr293=) c.2154C>G (p.Thr718=) c.9054C>G (p.Thr3018=) c.9051C>G (p.Thr3017=) c.9063C>G (p.Thr3021=) c.9042C>G (p.Thr3014=) c.8697C>G (p.Thr2899=) c.5043C>G (p.Thr1681=) c.8937C>G (p.Thr2979=) c.8928C>G (p.Thr2976=) c.8943C>G (p.Thr2981=) c.3240C>G (p.Thr1080=) | |
| X | g.31444499G= | CA2422434037 | DMD | c.3912C= (p.Thr1304=) c.1686C= (p.Thr562=) n.2531C= n.2558C= c.921C= (p.Thr307=) c.9066C= (p.Thr3022=) c.5034C= (p.Thr1678=) n.2727C= c.879C= (p.Thr293=) c.2154C= (p.Thr718=) c.9054C= (p.Thr3018=) c.9051C= (p.Thr3017=) c.9063C= (p.Thr3021=) c.9042C= (p.Thr3014=) c.8697C= (p.Thr2899=) c.5043C= (p.Thr1681=) c.8937C= (p.Thr2979=) c.8928C= (p.Thr2976=) c.8943C= (p.Thr2981=) c.3240C= (p.Thr1080=) | |
| X | g.31444499G>T | CA515858189 | DMD | c.3912C>A (p.Thr1304=) c.1686C>A (p.Thr562=) n.2531C>A n.2558C>A c.921C>A (p.Thr307=) c.9066C>A (p.Thr3022=) c.5034C>A (p.Thr1678=) n.2727C>A c.879C>A (p.Thr293=) c.2154C>A (p.Thr718=) c.9054C>A (p.Thr3018=) c.9051C>A (p.Thr3017=) c.9063C>A (p.Thr3021=) c.9042C>A (p.Thr3014=) c.8697C>A (p.Thr2899=) c.5043C>A (p.Thr1681=) c.8937C>A (p.Thr2979=) c.8928C>A (p.Thr2976=) c.8943C>A (p.Thr2981=) c.3240C>A (p.Thr1080=) | |
| X | g.31444500G>A | CA412655066 | DMD | c.3911C>T (p.Thr1304Ile) c.1685C>T (p.Thr562Ile) n.2530C>T n.2557C>T c.920C>T (p.Thr307Ile) c.9065C>T (p.Thr3022Ile) c.5033C>T (p.Thr1678Ile) n.2726C>T c.878C>T (p.Thr293Ile) c.2153C>T (p.Thr718Ile) c.9053C>T (p.Thr3018Ile) c.9050C>T (p.Thr3017Ile) c.9062C>T (p.Thr3021Ile) c.9041C>T (p.Thr3014Ile) c.8696C>T (p.Thr2899Ile) c.5042C>T (p.Thr1681Ile) c.8936C>T (p.Thr2979Ile) c.8927C>T (p.Thr2976Ile) c.8942C>T (p.Thr2981Ile) c.3239C>T (p.Thr1080Ile) | |
| X | g.31444500G>C | CA412655067 | DMD | c.3911C>G (p.Thr1304Ser) c.1685C>G (p.Thr562Ser) n.2530C>G n.2557C>G c.920C>G (p.Thr307Ser) c.9065C>G (p.Thr3022Ser) c.5033C>G (p.Thr1678Ser) n.2726C>G c.878C>G (p.Thr293Ser) c.2153C>G (p.Thr718Ser) c.9053C>G (p.Thr3018Ser) c.9050C>G (p.Thr3017Ser) c.9062C>G (p.Thr3021Ser) c.9041C>G (p.Thr3014Ser) c.8696C>G (p.Thr2899Ser) c.5042C>G (p.Thr1681Ser) c.8936C>G (p.Thr2979Ser) c.8927C>G (p.Thr2976Ser) c.8942C>G (p.Thr2981Ser) c.3239C>G (p.Thr1080Ser) | gnomAD v4 |
| X | g.31444500G>T | CA412655068 | DMD | c.3911C>A (p.Thr1304Asn) c.1685C>A (p.Thr562Asn) n.2530C>A n.2557C>A c.920C>A (p.Thr307Asn) c.9065C>A (p.Thr3022Asn) c.5033C>A (p.Thr1678Asn) n.2726C>A c.878C>A (p.Thr293Asn) c.2153C>A (p.Thr718Asn) c.9053C>A (p.Thr3018Asn) c.9050C>A (p.Thr3017Asn) c.9062C>A (p.Thr3021Asn) c.9041C>A (p.Thr3014Asn) c.8696C>A (p.Thr2899Asn) c.5042C>A (p.Thr1681Asn) c.8936C>A (p.Thr2979Asn) c.8927C>A (p.Thr2976Asn) c.8942C>A (p.Thr2981Asn) c.3239C>A (p.Thr1080Asn) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444501T>A | CA412655071 | DMD | c.3910A>T (p.Thr1304Ser) c.1684A>T (p.Thr562Ser) n.2529A>T n.2556A>T c.919A>T (p.Thr307Ser) c.9064A>T (p.Thr3022Ser) c.5032A>T (p.Thr1678Ser) n.2725A>T c.877A>T (p.Thr293Ser) c.2152A>T (p.Thr718Ser) c.9052A>T (p.Thr3018Ser) c.9049A>T (p.Thr3017Ser) c.9061A>T (p.Thr3021Ser) c.9040A>T (p.Thr3014Ser) c.8695A>T (p.Thr2899Ser) c.5041A>T (p.Thr1681Ser) c.8935A>T (p.Thr2979Ser) c.8926A>T (p.Thr2976Ser) c.8941A>T (p.Thr2981Ser) c.3238A>T (p.Thr1080Ser) | |
| X | g.31444501T>C | CA412655069 | DMD | c.3910A>G (p.Thr1304Ala) c.1684A>G (p.Thr562Ala) n.2529A>G n.2556A>G c.919A>G (p.Thr307Ala) c.9064A>G (p.Thr3022Ala) c.5032A>G (p.Thr1678Ala) n.2725A>G c.877A>G (p.Thr293Ala) c.2152A>G (p.Thr718Ala) c.9052A>G (p.Thr3018Ala) c.9049A>G (p.Thr3017Ala) c.9061A>G (p.Thr3021Ala) c.9040A>G (p.Thr3014Ala) c.8695A>G (p.Thr2899Ala) c.5041A>G (p.Thr1681Ala) c.8935A>G (p.Thr2979Ala) c.8926A>G (p.Thr2976Ala) c.8941A>G (p.Thr2981Ala) c.3238A>G (p.Thr1080Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31444501T>G | CA412655070 | DMD | c.3910A>C (p.Thr1304Pro) c.1684A>C (p.Thr562Pro) n.2529A>C n.2556A>C c.919A>C (p.Thr307Pro) c.9064A>C (p.Thr3022Pro) c.5032A>C (p.Thr1678Pro) n.2725A>C c.877A>C (p.Thr293Pro) c.2152A>C (p.Thr718Pro) c.9052A>C (p.Thr3018Pro) c.9049A>C (p.Thr3017Pro) c.9061A>C (p.Thr3021Pro) c.9040A>C (p.Thr3014Pro) c.8695A>C (p.Thr2899Pro) c.5041A>C (p.Thr1681Pro) c.8935A>C (p.Thr2979Pro) c.8926A>C (p.Thr2976Pro) c.8941A>C (p.Thr2981Pro) c.3238A>C (p.Thr1080Pro) | |
| X | g.31444501T= | CA2422434038 | DMD | c.3910A= (p.Thr1304=) c.1684A= (p.Thr562=) n.2529A= n.2556A= c.919A= (p.Thr307=) c.9064A= (p.Thr3022=) c.5032A= (p.Thr1678=) n.2725A= c.877A= (p.Thr293=) c.2152A= (p.Thr718=) c.9052A= (p.Thr3018=) c.9049A= (p.Thr3017=) c.9061A= (p.Thr3021=) c.9040A= (p.Thr3014=) c.8695A= (p.Thr2899=) c.5041A= (p.Thr1681=) c.8935A= (p.Thr2979=) c.8926A= (p.Thr2976=) c.8941A= (p.Thr2981=) c.3238A= (p.Thr1080=) | |
| X | g.31444502G>A | CA515858192 | DMD | c.3909C>T (p.Asn1303=) c.1683C>T (p.Asn561=) n.2528C>T n.2555C>T c.918C>T (p.Asn306=) c.9063C>T (p.Asn3021=) c.5031C>T (p.Asn1677=) n.2724C>T c.876C>T (p.Asn292=) c.2151C>T (p.Asn717=) c.9051C>T (p.Asn3017=) c.9048C>T (p.Asn3016=) c.9060C>T (p.Asn3020=) c.9039C>T (p.Asn3013=) c.8694C>T (p.Asn2898=) c.5040C>T (p.Asn1680=) c.8934C>T (p.Asn2978=) c.8925C>T (p.Asn2975=) c.8940C>T (p.Asn2980=) c.3237C>T (p.Asn1079=) | |
| X | g.31444502G>C | CA412655072 | DMD | c.3909C>G (p.Asn1303Lys) c.1683C>G (p.Asn561Lys) n.2528C>G n.2555C>G c.918C>G (p.Asn306Lys) c.9063C>G (p.Asn3021Lys) c.5031C>G (p.Asn1677Lys) n.2724C>G c.876C>G (p.Asn292Lys) c.2151C>G (p.Asn717Lys) c.9051C>G (p.Asn3017Lys) c.9048C>G (p.Asn3016Lys) c.9060C>G (p.Asn3020Lys) c.9039C>G (p.Asn3013Lys) c.8694C>G (p.Asn2898Lys) c.5040C>G (p.Asn1680Lys) c.8934C>G (p.Asn2978Lys) c.8925C>G (p.Asn2975Lys) c.8940C>G (p.Asn2980Lys) c.3237C>G (p.Asn1079Lys) | |
| X | g.31444502G>T | CA412655073 | DMD | c.3909C>A (p.Asn1303Lys) c.1683C>A (p.Asn561Lys) n.2528C>A n.2555C>A c.918C>A (p.Asn306Lys) c.9063C>A (p.Asn3021Lys) c.5031C>A (p.Asn1677Lys) n.2724C>A c.876C>A (p.Asn292Lys) c.2151C>A (p.Asn717Lys) c.9051C>A (p.Asn3017Lys) c.9048C>A (p.Asn3016Lys) c.9060C>A (p.Asn3020Lys) c.9039C>A (p.Asn3013Lys) c.8694C>A (p.Asn2898Lys) c.5040C>A (p.Asn1680Lys) c.8934C>A (p.Asn2978Lys) c.8925C>A (p.Asn2975Lys) c.8940C>A (p.Asn2980Lys) c.3237C>A (p.Asn1079Lys) | |
| X | g.31444503T>A | CA412655074 | DMD | c.3908A>T (p.Asn1303Ile) c.1682A>T (p.Asn561Ile) n.2527A>T n.2554A>T c.917A>T (p.Asn306Ile) c.9062A>T (p.Asn3021Ile) c.5030A>T (p.Asn1677Ile) n.2723A>T c.875A>T (p.Asn292Ile) c.2150A>T (p.Asn717Ile) c.9050A>T (p.Asn3017Ile) c.9047A>T (p.Asn3016Ile) c.9059A>T (p.Asn3020Ile) c.9038A>T (p.Asn3013Ile) c.8693A>T (p.Asn2898Ile) c.5039A>T (p.Asn1680Ile) c.8933A>T (p.Asn2978Ile) c.8924A>T (p.Asn2975Ile) c.8939A>T (p.Asn2980Ile) c.3236A>T (p.Asn1079Ile) | |
| X | g.31444503T>C | CA412655075 | DMD | c.3908A>G (p.Asn1303Ser) c.1682A>G (p.Asn561Ser) n.2527A>G n.2554A>G c.917A>G (p.Asn306Ser) c.9062A>G (p.Asn3021Ser) c.5030A>G (p.Asn1677Ser) n.2723A>G c.875A>G (p.Asn292Ser) c.2150A>G (p.Asn717Ser) c.9050A>G (p.Asn3017Ser) c.9047A>G (p.Asn3016Ser) c.9059A>G (p.Asn3020Ser) c.9038A>G (p.Asn3013Ser) c.8693A>G (p.Asn2898Ser) c.5039A>G (p.Asn1680Ser) c.8933A>G (p.Asn2978Ser) c.8924A>G (p.Asn2975Ser) c.8939A>G (p.Asn2980Ser) c.3236A>G (p.Asn1079Ser) | gnomAD v4 |
| X | g.31444503T>G | CA412655076 | DMD | c.3908A>C (p.Asn1303Thr) c.1682A>C (p.Asn561Thr) n.2527A>C n.2554A>C c.917A>C (p.Asn306Thr) c.9062A>C (p.Asn3021Thr) c.5030A>C (p.Asn1677Thr) n.2723A>C c.875A>C (p.Asn292Thr) c.2150A>C (p.Asn717Thr) c.9050A>C (p.Asn3017Thr) c.9047A>C (p.Asn3016Thr) c.9059A>C (p.Asn3020Thr) c.9038A>C (p.Asn3013Thr) c.8693A>C (p.Asn2898Thr) c.5039A>C (p.Asn1680Thr) c.8933A>C (p.Asn2978Thr) c.8924A>C (p.Asn2975Thr) c.8939A>C (p.Asn2980Thr) c.3236A>C (p.Asn1079Thr) | |
| X | g.31444504T>A | CA412655077 | DMD | c.3907A>T (p.Asn1303Tyr) c.1681A>T (p.Asn561Tyr) n.2526A>T n.2553A>T c.916A>T (p.Asn306Tyr) c.9061A>T (p.Asn3021Tyr) c.5029A>T (p.Asn1677Tyr) n.2722A>T c.874A>T (p.Asn292Tyr) c.2149A>T (p.Asn717Tyr) c.9049A>T (p.Asn3017Tyr) c.9046A>T (p.Asn3016Tyr) c.9058A>T (p.Asn3020Tyr) c.9037A>T (p.Asn3013Tyr) c.8692A>T (p.Asn2898Tyr) c.5038A>T (p.Asn1680Tyr) c.8932A>T (p.Asn2978Tyr) c.8923A>T (p.Asn2975Tyr) c.8938A>T (p.Asn2980Tyr) c.3235A>T (p.Asn1079Tyr) | |
| X | g.31444504T>C | CA412655078 | DMD | c.3907A>G (p.Asn1303Asp) c.1681A>G (p.Asn561Asp) n.2526A>G n.2553A>G c.916A>G (p.Asn306Asp) c.9061A>G (p.Asn3021Asp) c.5029A>G (p.Asn1677Asp) n.2722A>G c.874A>G (p.Asn292Asp) c.2149A>G (p.Asn717Asp) c.9049A>G (p.Asn3017Asp) c.9046A>G (p.Asn3016Asp) c.9058A>G (p.Asn3020Asp) c.9037A>G (p.Asn3013Asp) c.8692A>G (p.Asn2898Asp) c.5038A>G (p.Asn1680Asp) c.8932A>G (p.Asn2978Asp) c.8923A>G (p.Asn2975Asp) c.8938A>G (p.Asn2980Asp) c.3235A>G (p.Asn1079Asp) | |
| X | g.31444504T>G | CA412655079 | DMD | c.3907A>C (p.Asn1303His) c.1681A>C (p.Asn561His) n.2526A>C n.2553A>C c.916A>C (p.Asn306His) c.9061A>C (p.Asn3021His) c.5029A>C (p.Asn1677His) n.2722A>C c.874A>C (p.Asn292His) c.2149A>C (p.Asn717His) c.9049A>C (p.Asn3017His) c.9046A>C (p.Asn3016His) c.9058A>C (p.Asn3020His) c.9037A>C (p.Asn3013His) c.8692A>C (p.Asn2898His) c.5038A>C (p.Asn1680His) c.8932A>C (p.Asn2978His) c.8923A>C (p.Asn2975His) c.8938A>C (p.Asn2980His) c.3235A>C (p.Asn1079His) | |
| X | g.31444505del | CA2580100570 | DMD | c.3906del (p.Asn1303ThrfsTer?) c.1680del (p.Asn561ThrfsTer?) n.2525del n.2552del c.915del (p.Asn306ThrfsTer?) c.9060del (p.Asn3021ThrfsTer?) c.5028del (p.Asn1677ThrfsTer?) n.2721del c.873del (p.Asn292ThrfsTer?) c.2148del (p.Asn717ThrfsTer?) c.9048del (p.Asn3017ThrfsTer?) c.9045del (p.Asn3016ThrfsTer?) c.9057del (p.Asn3020ThrfsTer?) c.9036del (p.Asn3013ThrfsTer?) c.8691del (p.Asn2898ThrfsTer?) c.5037del (p.Asn1680ThrfsTer?) c.8931del (p.Asn2978ThrfsTer?) c.8922del (p.Asn2975ThrfsTer?) c.8937del (p.Asn2980ThrfsTer?) c.3234del (p.Asn1079ThrfsTer?) | ClinVar |
| X | g.31444505C>A | CA515858196 | DMD | c.3906G>T (p.Leu1302=) c.1680G>T (p.Leu560=) n.2525G>T n.2552G>T c.915G>T (p.Leu305=) c.9060G>T (p.Leu3020=) c.5028G>T (p.Leu1676=) n.2721G>T c.873G>T (p.Leu291=) c.2148G>T (p.Leu716=) c.9048G>T (p.Leu3016=) c.9045G>T (p.Leu3015=) c.9057G>T (p.Leu3019=) c.9036G>T (p.Leu3012=) c.8691G>T (p.Leu2897=) c.5037G>T (p.Leu1679=) c.8931G>T (p.Leu2977=) c.8922G>T (p.Leu2974=) c.8937G>T (p.Leu2979=) c.3234G>T (p.Leu1078=) | dbSNP |
| X | g.31444505C>G | CA515858198 | DMD | c.3906G>C (p.Leu1302=) c.1680G>C (p.Leu560=) n.2525G>C n.2552G>C c.915G>C (p.Leu305=) c.9060G>C (p.Leu3020=) c.5028G>C (p.Leu1676=) n.2721G>C c.873G>C (p.Leu291=) c.2148G>C (p.Leu716=) c.9048G>C (p.Leu3016=) c.9045G>C (p.Leu3015=) c.9057G>C (p.Leu3019=) c.9036G>C (p.Leu3012=) c.8691G>C (p.Leu2897=) c.5037G>C (p.Leu1679=) c.8931G>C (p.Leu2977=) c.8922G>C (p.Leu2974=) c.8937G>C (p.Leu2979=) c.3234G>C (p.Leu1078=) | |
| X | g.31444505C>T | CA515858197 | DMD | c.3906G>A (p.Leu1302=) c.1680G>A (p.Leu560=) n.2525G>A n.2552G>A c.915G>A (p.Leu305=) c.9060G>A (p.Leu3020=) c.5028G>A (p.Leu1676=) n.2721G>A c.873G>A (p.Leu291=) c.2148G>A (p.Leu716=) c.9048G>A (p.Leu3016=) c.9045G>A (p.Leu3015=) c.9057G>A (p.Leu3019=) c.9036G>A (p.Leu3012=) c.8691G>A (p.Leu2897=) c.5037G>A (p.Leu1679=) c.8931G>A (p.Leu2977=) c.8922G>A (p.Leu2974=) c.8937G>A (p.Leu2979=) c.3234G>A (p.Leu1078=) | ClinVar dbSNP |
| X | g.31444506A>C | CA412655080 | DMD | c.3905T>G (p.Leu1302Arg) c.1679T>G (p.Leu560Arg) n.2524T>G n.2551T>G c.914T>G (p.Leu305Arg) c.9059T>G (p.Leu3020Arg) c.5027T>G (p.Leu1676Arg) n.2720T>G c.872T>G (p.Leu291Arg) c.2147T>G (p.Leu716Arg) c.9047T>G (p.Leu3016Arg) c.9044T>G (p.Leu3015Arg) c.9056T>G (p.Leu3019Arg) c.9035T>G (p.Leu3012Arg) c.8690T>G (p.Leu2897Arg) c.5036T>G (p.Leu1679Arg) c.8930T>G (p.Leu2977Arg) c.8921T>G (p.Leu2974Arg) c.8936T>G (p.Leu2979Arg) c.3233T>G (p.Leu1078Arg) | |
| X | g.31444506A>G | CA412655081 | DMD | c.3905T>C (p.Leu1302Pro) c.1679T>C (p.Leu560Pro) n.2524T>C n.2551T>C c.914T>C (p.Leu305Pro) c.9059T>C (p.Leu3020Pro) c.5027T>C (p.Leu1676Pro) n.2720T>C c.872T>C (p.Leu291Pro) c.2147T>C (p.Leu716Pro) c.9047T>C (p.Leu3016Pro) c.9044T>C (p.Leu3015Pro) c.9056T>C (p.Leu3019Pro) c.9035T>C (p.Leu3012Pro) c.8690T>C (p.Leu2897Pro) c.5036T>C (p.Leu1679Pro) c.8930T>C (p.Leu2977Pro) c.8921T>C (p.Leu2974Pro) c.8936T>C (p.Leu2979Pro) c.3233T>C (p.Leu1078Pro) | |
| X | g.31444506A>T | CA412655082 | DMD | c.3905T>A (p.Leu1302Gln) c.1679T>A (p.Leu560Gln) n.2524T>A n.2551T>A c.914T>A (p.Leu305Gln) c.9059T>A (p.Leu3020Gln) c.5027T>A (p.Leu1676Gln) n.2720T>A c.872T>A (p.Leu291Gln) c.2147T>A (p.Leu716Gln) c.9047T>A (p.Leu3016Gln) c.9044T>A (p.Leu3015Gln) c.9056T>A (p.Leu3019Gln) c.9035T>A (p.Leu3012Gln) c.8690T>A (p.Leu2897Gln) c.5036T>A (p.Leu1679Gln) c.8930T>A (p.Leu2977Gln) c.8921T>A (p.Leu2974Gln) c.8936T>A (p.Leu2979Gln) c.3233T>A (p.Leu1078Gln) | |
| X | g.31444507G>A | CA515858199 | DMD | c.3904C>T (p.Leu1302=) c.1678C>T (p.Leu560=) n.2523C>T n.2550C>T c.913C>T (p.Leu305=) c.9058C>T (p.Leu3020=) c.5026C>T (p.Leu1676=) n.2719C>T c.871C>T (p.Leu291=) c.2146C>T (p.Leu716=) c.9046C>T (p.Leu3016=) c.9043C>T (p.Leu3015=) c.9055C>T (p.Leu3019=) c.9034C>T (p.Leu3012=) c.8689C>T (p.Leu2897=) c.5035C>T (p.Leu1679=) c.8929C>T (p.Leu2977=) c.8920C>T (p.Leu2974=) c.8935C>T (p.Leu2979=) c.3232C>T (p.Leu1078=) | |
| X | g.31444507G>C | CA412655083 | DMD | c.3904C>G (p.Leu1302Val) c.1678C>G (p.Leu560Val) n.2523C>G n.2550C>G c.913C>G (p.Leu305Val) c.9058C>G (p.Leu3020Val) c.5026C>G (p.Leu1676Val) n.2719C>G c.871C>G (p.Leu291Val) c.2146C>G (p.Leu716Val) c.9046C>G (p.Leu3016Val) c.9043C>G (p.Leu3015Val) c.9055C>G (p.Leu3019Val) c.9034C>G (p.Leu3012Val) c.8689C>G (p.Leu2897Val) c.5035C>G (p.Leu1679Val) c.8929C>G (p.Leu2977Val) c.8920C>G (p.Leu2974Val) c.8935C>G (p.Leu2979Val) c.3232C>G (p.Leu1078Val) | |
| X | g.31444507G>T | CA412655084 | DMD | c.3904C>A (p.Leu1302Met) c.1678C>A (p.Leu560Met) n.2523C>A n.2550C>A c.913C>A (p.Leu305Met) c.9058C>A (p.Leu3020Met) c.5026C>A (p.Leu1676Met) n.2719C>A c.871C>A (p.Leu291Met) c.2146C>A (p.Leu716Met) c.9046C>A (p.Leu3016Met) c.9043C>A (p.Leu3015Met) c.9055C>A (p.Leu3019Met) c.9034C>A (p.Leu3012Met) c.8689C>A (p.Leu2897Met) c.5035C>A (p.Leu1679Met) c.8929C>A (p.Leu2977Met) c.8920C>A (p.Leu2974Met) c.8935C>A (p.Leu2979Met) c.3232C>A (p.Leu1078Met) | |
| X | g.31444508G>A | CA515858201 | DMD | c.3903C>T (p.Asp1301=) c.1677C>T (p.Asp559=) n.2522C>T n.2549C>T c.912C>T (p.Asp304=) c.9057C>T (p.Asp3019=) c.5025C>T (p.Asp1675=) n.2718C>T c.870C>T (p.Asp290=) c.2145C>T (p.Asp715=) c.9045C>T (p.Asp3015=) c.9042C>T (p.Asp3014=) c.9054C>T (p.Asp3018=) c.9033C>T (p.Asp3011=) c.8688C>T (p.Asp2896=) c.5034C>T (p.Asp1678=) c.8928C>T (p.Asp2976=) c.8919C>T (p.Asp2973=) c.8934C>T (p.Asp2978=) c.3231C>T (p.Asp1077=) | gnomAD v4 |
| X | g.31444508G>C | CA412655085 | DMD | c.3903C>G (p.Asp1301Glu) c.1677C>G (p.Asp559Glu) n.2522C>G n.2549C>G c.912C>G (p.Asp304Glu) c.9057C>G (p.Asp3019Glu) c.5025C>G (p.Asp1675Glu) n.2718C>G c.870C>G (p.Asp290Glu) c.2145C>G (p.Asp715Glu) c.9045C>G (p.Asp3015Glu) c.9042C>G (p.Asp3014Glu) c.9054C>G (p.Asp3018Glu) c.9033C>G (p.Asp3011Glu) c.8688C>G (p.Asp2896Glu) c.5034C>G (p.Asp1678Glu) c.8928C>G (p.Asp2976Glu) c.8919C>G (p.Asp2973Glu) c.8934C>G (p.Asp2978Glu) c.3231C>G (p.Asp1077Glu) | |
| X | g.31444508G>T | CA412655086 | DMD | c.3903C>A (p.Asp1301Glu) c.1677C>A (p.Asp559Glu) n.2522C>A n.2549C>A c.912C>A (p.Asp304Glu) c.9057C>A (p.Asp3019Glu) c.5025C>A (p.Asp1675Glu) n.2718C>A c.870C>A (p.Asp290Glu) c.2145C>A (p.Asp715Glu) c.9045C>A (p.Asp3015Glu) c.9042C>A (p.Asp3014Glu) c.9054C>A (p.Asp3018Glu) c.9033C>A (p.Asp3011Glu) c.8688C>A (p.Asp2896Glu) c.5034C>A (p.Asp1678Glu) c.8928C>A (p.Asp2976Glu) c.8919C>A (p.Asp2973Glu) c.8934C>A (p.Asp2978Glu) c.3231C>A (p.Asp1077Glu) | gnomAD v4 |
| X | g.31444509T>A | CA412655087 | DMD | c.3902A>T (p.Asp1301Val) c.1676A>T (p.Asp559Val) n.2521A>T n.2548A>T c.911A>T (p.Asp304Val) c.9056A>T (p.Asp3019Val) c.5024A>T (p.Asp1675Val) n.2717A>T c.869A>T (p.Asp290Val) c.2144A>T (p.Asp715Val) c.9044A>T (p.Asp3015Val) c.9041A>T (p.Asp3014Val) c.9053A>T (p.Asp3018Val) c.9032A>T (p.Asp3011Val) c.8687A>T (p.Asp2896Val) c.5033A>T (p.Asp1678Val) c.8927A>T (p.Asp2976Val) c.8918A>T (p.Asp2973Val) c.8933A>T (p.Asp2978Val) c.3230A>T (p.Asp1077Val) | |
| X | g.31444509T>C | CA412655088 | DMD | c.3902A>G (p.Asp1301Gly) c.1676A>G (p.Asp559Gly) n.2521A>G n.2548A>G c.911A>G (p.Asp304Gly) c.9056A>G (p.Asp3019Gly) c.5024A>G (p.Asp1675Gly) n.2717A>G c.869A>G (p.Asp290Gly) c.2144A>G (p.Asp715Gly) c.9044A>G (p.Asp3015Gly) c.9041A>G (p.Asp3014Gly) c.9053A>G (p.Asp3018Gly) c.9032A>G (p.Asp3011Gly) c.8687A>G (p.Asp2896Gly) c.5033A>G (p.Asp1678Gly) c.8927A>G (p.Asp2976Gly) c.8918A>G (p.Asp2973Gly) c.8933A>G (p.Asp2978Gly) c.3230A>G (p.Asp1077Gly) | |
| X | g.31444509T>G | CA412655089 | DMD | c.3902A>C (p.Asp1301Ala) c.1676A>C (p.Asp559Ala) n.2521A>C n.2548A>C c.911A>C (p.Asp304Ala) c.9056A>C (p.Asp3019Ala) c.5024A>C (p.Asp1675Ala) n.2717A>C c.869A>C (p.Asp290Ala) c.2144A>C (p.Asp715Ala) c.9044A>C (p.Asp3015Ala) c.9041A>C (p.Asp3014Ala) c.9053A>C (p.Asp3018Ala) c.9032A>C (p.Asp3011Ala) c.8687A>C (p.Asp2896Ala) c.5033A>C (p.Asp1678Ala) c.8927A>C (p.Asp2976Ala) c.8918A>C (p.Asp2973Ala) c.8933A>C (p.Asp2978Ala) c.3230A>C (p.Asp1077Ala) | |
| X | g.31444510del | CA2695231833 | DMD | c.3901del (p.Asp1301ThrfsTer2) c.1675del (p.Asp559ThrfsTer2) n.2520del n.2547del c.910del (p.Asp304ThrfsTer2) c.9055del (p.Asp3019ThrfsTer2) c.5023del (p.Asp1675ThrfsTer2) n.2716del c.868del (p.Asp290ThrfsTer2) c.2143del (p.Asp715ThrfsTer2) c.9043del (p.Asp3015ThrfsTer2) c.9040del (p.Asp3014ThrfsTer2) c.9052del (p.Asp3018ThrfsTer2) c.9031del (p.Asp3011ThrfsTer2) c.8686del (p.Asp2896ThrfsTer2) c.5032del (p.Asp1678ThrfsTer2) c.8926del (p.Asp2976ThrfsTer2) c.8917del (p.Asp2973ThrfsTer2) c.8932del (p.Asp2978ThrfsTer2) c.3229del (p.Asp1077ThrfsTer2) | |
| X | g.31444510C>A | CA412655090 | DMD | c.3901G>T (p.Asp1301Tyr) c.1675G>T (p.Asp559Tyr) n.2520G>T n.2547G>T c.910G>T (p.Asp304Tyr) c.9055G>T (p.Asp3019Tyr) c.5023G>T (p.Asp1675Tyr) n.2716G>T c.868G>T (p.Asp290Tyr) c.2143G>T (p.Asp715Tyr) c.9043G>T (p.Asp3015Tyr) c.9040G>T (p.Asp3014Tyr) c.9052G>T (p.Asp3018Tyr) c.9031G>T (p.Asp3011Tyr) c.8686G>T (p.Asp2896Tyr) c.5032G>T (p.Asp1678Tyr) c.8926G>T (p.Asp2976Tyr) c.8917G>T (p.Asp2973Tyr) c.8932G>T (p.Asp2978Tyr) c.3229G>T (p.Asp1077Tyr) | |
| X | g.31444510C>G | CA412655091 | DMD | c.3901G>C (p.Asp1301His) c.1675G>C (p.Asp559His) n.2520G>C n.2547G>C c.910G>C (p.Asp304His) c.9055G>C (p.Asp3019His) c.5023G>C (p.Asp1675His) n.2716G>C c.868G>C (p.Asp290His) c.2143G>C (p.Asp715His) c.9043G>C (p.Asp3015His) c.9040G>C (p.Asp3014His) c.9052G>C (p.Asp3018His) c.9031G>C (p.Asp3011His) c.8686G>C (p.Asp2896His) c.5032G>C (p.Asp1678His) c.8926G>C (p.Asp2976His) c.8917G>C (p.Asp2973His) c.8932G>C (p.Asp2978His) c.3229G>C (p.Asp1077His) | |
| X | g.31444510C>T | CA412655092 | DMD | c.3901G>A (p.Asp1301Asn) c.1675G>A (p.Asp559Asn) n.2520G>A n.2547G>A c.910G>A (p.Asp304Asn) c.9055G>A (p.Asp3019Asn) c.5023G>A (p.Asp1675Asn) n.2716G>A c.868G>A (p.Asp290Asn) c.2143G>A (p.Asp715Asn) c.9043G>A (p.Asp3015Asn) c.9040G>A (p.Asp3014Asn) c.9052G>A (p.Asp3018Asn) c.9031G>A (p.Asp3011Asn) c.8686G>A (p.Asp2896Asn) c.5032G>A (p.Asp1678Asn) c.8926G>A (p.Asp2976Asn) c.8917G>A (p.Asp2973Asn) c.8932G>A (p.Asp2978Asn) c.3229G>A (p.Asp1077Asn) | |
| X | g.31444511T>A | CA412655093 | DMD | c.3900A>T (p.Glu1300Asp) c.1674A>T (p.Glu558Asp) n.2519A>T n.2546A>T c.909A>T (p.Glu303Asp) c.9054A>T (p.Glu3018Asp) c.5022A>T (p.Glu1674Asp) n.2715A>T c.867A>T (p.Glu289Asp) c.2142A>T (p.Glu714Asp) c.9042A>T (p.Glu3014Asp) c.9039A>T (p.Glu3013Asp) c.9051A>T (p.Glu3017Asp) c.9030A>T (p.Glu3010Asp) c.8685A>T (p.Glu2895Asp) c.5031A>T (p.Glu1677Asp) c.8925A>T (p.Glu2975Asp) c.8916A>T (p.Glu2972Asp) c.8931A>T (p.Glu2977Asp) c.3228A>T (p.Glu1076Asp) | |
| X | g.31444511T>C | CA515858203 | DMD | c.3900A>G (p.Glu1300=) c.1674A>G (p.Glu558=) n.2519A>G n.2546A>G c.909A>G (p.Glu303=) c.9054A>G (p.Glu3018=) c.5022A>G (p.Glu1674=) n.2715A>G c.867A>G (p.Glu289=) c.2142A>G (p.Glu714=) c.9042A>G (p.Glu3014=) c.9039A>G (p.Glu3013=) c.9051A>G (p.Glu3017=) c.9030A>G (p.Glu3010=) c.8685A>G (p.Glu2895=) c.5031A>G (p.Glu1677=) c.8925A>G (p.Glu2975=) c.8916A>G (p.Glu2972=) c.8931A>G (p.Glu2977=) c.3228A>G (p.Glu1076=) | |
| X | g.31444511T>G | CA412655094 | DMD | c.3900A>C (p.Glu1300Asp) c.1674A>C (p.Glu558Asp) n.2519A>C n.2546A>C c.909A>C (p.Glu303Asp) c.9054A>C (p.Glu3018Asp) c.5022A>C (p.Glu1674Asp) n.2715A>C c.867A>C (p.Glu289Asp) c.2142A>C (p.Glu714Asp) c.9042A>C (p.Glu3014Asp) c.9039A>C (p.Glu3013Asp) c.9051A>C (p.Glu3017Asp) c.9030A>C (p.Glu3010Asp) c.8685A>C (p.Glu2895Asp) c.5031A>C (p.Glu1677Asp) c.8925A>C (p.Glu2975Asp) c.8916A>C (p.Glu2972Asp) c.8931A>C (p.Glu2977Asp) c.3228A>C (p.Glu1076Asp) | |
| X | g.31444512T>A | CA412655095 | DMD | c.3899A>T (p.Glu1300Val) c.1673A>T (p.Glu558Val) n.2518A>T n.2545A>T c.908A>T (p.Glu303Val) c.9053A>T (p.Glu3018Val) c.5021A>T (p.Glu1674Val) n.2714A>T c.866A>T (p.Glu289Val) c.2141A>T (p.Glu714Val) c.9041A>T (p.Glu3014Val) c.9038A>T (p.Glu3013Val) c.9050A>T (p.Glu3017Val) c.9029A>T (p.Glu3010Val) c.8684A>T (p.Glu2895Val) c.5030A>T (p.Glu1677Val) c.8924A>T (p.Glu2975Val) c.8915A>T (p.Glu2972Val) c.8930A>T (p.Glu2977Val) c.3227A>T (p.Glu1076Val) | |
| X | g.31444512T>C | CA412655097 | DMD | c.3899A>G (p.Glu1300Gly) c.1673A>G (p.Glu558Gly) n.2518A>G n.2545A>G c.908A>G (p.Glu303Gly) c.9053A>G (p.Glu3018Gly) c.5021A>G (p.Glu1674Gly) n.2714A>G c.866A>G (p.Glu289Gly) c.2141A>G (p.Glu714Gly) c.9041A>G (p.Glu3014Gly) c.9038A>G (p.Glu3013Gly) c.9050A>G (p.Glu3017Gly) c.9029A>G (p.Glu3010Gly) c.8684A>G (p.Glu2895Gly) c.5030A>G (p.Glu1677Gly) c.8924A>G (p.Glu2975Gly) c.8915A>G (p.Glu2972Gly) c.8930A>G (p.Glu2977Gly) c.3227A>G (p.Glu1076Gly) | |
| X | g.31444512T>G | CA412655096 | DMD | c.3899A>C (p.Glu1300Ala) c.1673A>C (p.Glu558Ala) n.2518A>C n.2545A>C c.908A>C (p.Glu303Ala) c.9053A>C (p.Glu3018Ala) c.5021A>C (p.Glu1674Ala) n.2714A>C c.866A>C (p.Glu289Ala) c.2141A>C (p.Glu714Ala) c.9041A>C (p.Glu3014Ala) c.9038A>C (p.Glu3013Ala) c.9050A>C (p.Glu3017Ala) c.9029A>C (p.Glu3010Ala) c.8684A>C (p.Glu2895Ala) c.5030A>C (p.Glu1677Ala) c.8924A>C (p.Glu2975Ala) c.8915A>C (p.Glu2972Ala) c.8930A>C (p.Glu2977Ala) c.3227A>C (p.Glu1076Ala) | |
| X | g.31444513C>A | CA412655098 | DMD | c.3898G>T (p.Glu1300Ter) c.1672G>T (p.Glu558Ter) n.2517G>T n.2544G>T c.907G>T (p.Glu303Ter) c.9052G>T (p.Glu3018Ter) c.5020G>T (p.Glu1674Ter) n.2713G>T c.865G>T (p.Glu289Ter) c.2140G>T (p.Glu714Ter) c.9040G>T (p.Glu3014Ter) c.9037G>T (p.Glu3013Ter) c.9049G>T (p.Glu3017Ter) c.9028G>T (p.Glu3010Ter) c.8683G>T (p.Glu2895Ter) c.5029G>T (p.Glu1677Ter) c.8923G>T (p.Glu2975Ter) c.8914G>T (p.Glu2972Ter) c.8929G>T (p.Glu2977Ter) c.3226G>T (p.Glu1076Ter) | |
| X | g.31444513C>G | CA412655099 | DMD | c.3898G>C (p.Glu1300Gln) c.1672G>C (p.Glu558Gln) n.2517G>C n.2544G>C c.907G>C (p.Glu303Gln) c.9052G>C (p.Glu3018Gln) c.5020G>C (p.Glu1674Gln) n.2713G>C c.865G>C (p.Glu289Gln) c.2140G>C (p.Glu714Gln) c.9040G>C (p.Glu3014Gln) c.9037G>C (p.Glu3013Gln) c.9049G>C (p.Glu3017Gln) c.9028G>C (p.Glu3010Gln) c.8683G>C (p.Glu2895Gln) c.5029G>C (p.Glu1677Gln) c.8923G>C (p.Glu2975Gln) c.8914G>C (p.Glu2972Gln) c.8929G>C (p.Glu2977Gln) c.3226G>C (p.Glu1076Gln) | |
| X | g.31444513C>T | CA412655100 | DMD | c.3898G>A (p.Glu1300Lys) c.1672G>A (p.Glu558Lys) n.2517G>A n.2544G>A c.907G>A (p.Glu303Lys) c.9052G>A (p.Glu3018Lys) c.5020G>A (p.Glu1674Lys) n.2713G>A c.865G>A (p.Glu289Lys) c.2140G>A (p.Glu714Lys) c.9040G>A (p.Glu3014Lys) c.9037G>A (p.Glu3013Lys) c.9049G>A (p.Glu3017Lys) c.9028G>A (p.Glu3010Lys) c.8683G>A (p.Glu2895Lys) c.5029G>A (p.Glu1677Lys) c.8923G>A (p.Glu2975Lys) c.8914G>A (p.Glu2972Lys) c.8929G>A (p.Glu2977Lys) c.3226G>A (p.Glu1076Lys) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444514del | CA2573055257 | DMD | c.3898del (p.Glu1300LysfsTer3) c.1672del (p.Glu558LysfsTer3) n.2517del n.2544del c.907del (p.Glu303LysfsTer3) c.9052del (p.Glu3018LysfsTer3) c.5020del (p.Glu1674LysfsTer3) n.2713del c.865del (p.Glu289LysfsTer3) c.2140del (p.Glu714LysfsTer3) c.9040del (p.Glu3014LysfsTer3) c.9037del (p.Glu3013LysfsTer3) c.9049del (p.Glu3017LysfsTer3) c.9028del (p.Glu3010LysfsTer3) c.8683del (p.Glu2895LysfsTer3) c.5029del (p.Glu1677LysfsTer3) c.8923del (p.Glu2975LysfsTer3) c.8914del (p.Glu2972LysfsTer3) c.8929del (p.Glu2977LysfsTer3) c.3226del (p.Glu1076LysfsTer3) | dbSNP |
| X | g.31444514C>A | CA515858206 | DMD | c.3897G>T (p.Leu1299=) c.1671G>T (p.Leu557=) n.2516G>T n.2543G>T c.906G>T (p.Leu302=) c.9051G>T (p.Leu3017=) c.5019G>T (p.Leu1673=) n.2712G>T c.864G>T (p.Leu288=) c.2139G>T (p.Leu713=) c.9039G>T (p.Leu3013=) c.9036G>T (p.Leu3012=) c.9048G>T (p.Leu3016=) c.9027G>T (p.Leu3009=) c.8682G>T (p.Leu2894=) c.5028G>T (p.Leu1676=) c.8922G>T (p.Leu2974=) c.8913G>T (p.Leu2971=) c.8928G>T (p.Leu2976=) c.3225G>T (p.Leu1075=) | |
| X | g.31444514C= | CA2422434039 | DMD | c.3897G= (p.Leu1299=) c.1671G= (p.Leu557=) n.2516G= n.2543G= c.906G= (p.Leu302=) c.9051G= (p.Leu3017=) c.5019G= (p.Leu1673=) n.2712G= c.864G= (p.Leu288=) c.2139G= (p.Leu713=) c.9039G= (p.Leu3013=) c.9036G= (p.Leu3012=) c.9048G= (p.Leu3016=) c.9027G= (p.Leu3009=) c.8682G= (p.Leu2894=) c.5028G= (p.Leu1676=) c.8922G= (p.Leu2974=) c.8913G= (p.Leu2971=) c.8928G= (p.Leu2976=) c.3225G= (p.Leu1075=) | |
| X | g.31444514C>G | CA515858207 | DMD | c.3897G>C (p.Leu1299=) c.1671G>C (p.Leu557=) n.2516G>C n.2543G>C c.906G>C (p.Leu302=) c.9051G>C (p.Leu3017=) c.5019G>C (p.Leu1673=) n.2712G>C c.864G>C (p.Leu288=) c.2139G>C (p.Leu713=) c.9039G>C (p.Leu3013=) c.9036G>C (p.Leu3012=) c.9048G>C (p.Leu3016=) c.9027G>C (p.Leu3009=) c.8682G>C (p.Leu2894=) c.5028G>C (p.Leu1676=) c.8922G>C (p.Leu2974=) c.8913G>C (p.Leu2971=) c.8928G>C (p.Leu2976=) c.3225G>C (p.Leu1075=) | |
| X | g.31444514C>T | CA10377932 | DMD | c.3897G>A (p.Leu1299=) c.1671G>A (p.Leu557=) n.2516G>A n.2543G>A c.906G>A (p.Leu302=) c.9051G>A (p.Leu3017=) c.5019G>A (p.Leu1673=) n.2712G>A c.864G>A (p.Leu288=) c.2139G>A (p.Leu713=) c.9039G>A (p.Leu3013=) c.9036G>A (p.Leu3012=) c.9048G>A (p.Leu3016=) c.9027G>A (p.Leu3009=) c.8682G>A (p.Leu2894=) c.5028G>A (p.Leu1676=) c.8922G>A (p.Leu2974=) c.8913G>A (p.Leu2971=) c.8928G>A (p.Leu2976=) c.3225G>A (p.Leu1075=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31444515A>C | CA412655103 | DMD | c.3896T>G (p.Leu1299Arg) c.1670T>G (p.Leu557Arg) n.2515T>G n.2542T>G c.905T>G (p.Leu302Arg) c.9050T>G (p.Leu3017Arg) c.5018T>G (p.Leu1673Arg) n.2711T>G c.863T>G (p.Leu288Arg) c.2138T>G (p.Leu713Arg) c.9038T>G (p.Leu3013Arg) c.9035T>G (p.Leu3012Arg) c.9047T>G (p.Leu3016Arg) c.9026T>G (p.Leu3009Arg) c.8681T>G (p.Leu2894Arg) c.5027T>G (p.Leu1676Arg) c.8921T>G (p.Leu2974Arg) c.8912T>G (p.Leu2971Arg) c.8927T>G (p.Leu2976Arg) c.3224T>G (p.Leu1075Arg) | |
| X | g.31444515A>G | CA412655101 | DMD | c.3896T>C (p.Leu1299Pro) c.1670T>C (p.Leu557Pro) n.2515T>C n.2542T>C c.905T>C (p.Leu302Pro) c.9050T>C (p.Leu3017Pro) c.5018T>C (p.Leu1673Pro) n.2711T>C c.863T>C (p.Leu288Pro) c.2138T>C (p.Leu713Pro) c.9038T>C (p.Leu3013Pro) c.9035T>C (p.Leu3012Pro) c.9047T>C (p.Leu3016Pro) c.9026T>C (p.Leu3009Pro) c.8681T>C (p.Leu2894Pro) c.5027T>C (p.Leu1676Pro) c.8921T>C (p.Leu2974Pro) c.8912T>C (p.Leu2971Pro) c.8927T>C (p.Leu2976Pro) c.3224T>C (p.Leu1075Pro) | |
| X | g.31444515A>T | CA412655102 | DMD | c.3896T>A (p.Leu1299Gln) c.1670T>A (p.Leu557Gln) n.2515T>A n.2542T>A c.905T>A (p.Leu302Gln) c.9050T>A (p.Leu3017Gln) c.5018T>A (p.Leu1673Gln) n.2711T>A c.863T>A (p.Leu288Gln) c.2138T>A (p.Leu713Gln) c.9038T>A (p.Leu3013Gln) c.9035T>A (p.Leu3012Gln) c.9047T>A (p.Leu3016Gln) c.9026T>A (p.Leu3009Gln) c.8681T>A (p.Leu2894Gln) c.5027T>A (p.Leu1676Gln) c.8921T>A (p.Leu2974Gln) c.8912T>A (p.Leu2971Gln) c.8927T>A (p.Leu2976Gln) c.3224T>A (p.Leu1075Gln) | |
| X | g.31444516G>A | CA515858208 | DMD | c.3895C>T (p.Leu1299=) c.1669C>T (p.Leu557=) n.2514C>T n.2541C>T c.904C>T (p.Leu302=) c.9049C>T (p.Leu3017=) c.5017C>T (p.Leu1673=) n.2710C>T c.862C>T (p.Leu288=) c.2137C>T (p.Leu713=) c.9037C>T (p.Leu3013=) c.9034C>T (p.Leu3012=) c.9046C>T (p.Leu3016=) c.9025C>T (p.Leu3009=) c.8680C>T (p.Leu2894=) c.5026C>T (p.Leu1676=) c.8920C>T (p.Leu2974=) c.8911C>T (p.Leu2971=) c.8926C>T (p.Leu2976=) c.3223C>T (p.Leu1075=) | |
| X | g.31444516G>C | CA412655104 | DMD | c.3895C>G (p.Leu1299Val) c.1669C>G (p.Leu557Val) n.2514C>G n.2541C>G c.904C>G (p.Leu302Val) c.9049C>G (p.Leu3017Val) c.5017C>G (p.Leu1673Val) n.2710C>G c.862C>G (p.Leu288Val) c.2137C>G (p.Leu713Val) c.9037C>G (p.Leu3013Val) c.9034C>G (p.Leu3012Val) c.9046C>G (p.Leu3016Val) c.9025C>G (p.Leu3009Val) c.8680C>G (p.Leu2894Val) c.5026C>G (p.Leu1676Val) c.8920C>G (p.Leu2974Val) c.8911C>G (p.Leu2971Val) c.8926C>G (p.Leu2976Val) c.3223C>G (p.Leu1075Val) | gnomAD v4 |
| X | g.31444516G>T | CA412655105 | DMD | c.3895C>A (p.Leu1299Met) c.1669C>A (p.Leu557Met) n.2514C>A n.2541C>A c.904C>A (p.Leu302Met) c.9049C>A (p.Leu3017Met) c.5017C>A (p.Leu1673Met) n.2710C>A c.862C>A (p.Leu288Met) c.2137C>A (p.Leu713Met) c.9037C>A (p.Leu3013Met) c.9034C>A (p.Leu3012Met) c.9046C>A (p.Leu3016Met) c.9025C>A (p.Leu3009Met) c.8680C>A (p.Leu2894Met) c.5026C>A (p.Leu1676Met) c.8920C>A (p.Leu2974Met) c.8911C>A (p.Leu2971Met) c.8926C>A (p.Leu2976Met) c.3223C>A (p.Leu1075Met) | |
| X | g.31444517A>C | CA515858210 | DMD | c.3894T>G (p.Thr1298=) c.1668T>G (p.Thr556=) n.2513T>G n.2540T>G c.903T>G (p.Thr301=) c.9048T>G (p.Thr3016=) c.5016T>G (p.Thr1672=) n.2709T>G c.861T>G (p.Thr287=) c.2136T>G (p.Thr712=) c.9036T>G (p.Thr3012=) c.9033T>G (p.Thr3011=) c.9045T>G (p.Thr3015=) c.9024T>G (p.Thr3008=) c.8679T>G (p.Thr2893=) c.5025T>G (p.Thr1675=) c.8919T>G (p.Thr2973=) c.8910T>G (p.Thr2970=) c.8925T>G (p.Thr2975=) c.3222T>G (p.Thr1074=) | |
| X | g.31444517A>G | CA515858212 | DMD | c.3894T>C (p.Thr1298=) c.1668T>C (p.Thr556=) n.2513T>C n.2540T>C c.903T>C (p.Thr301=) c.9048T>C (p.Thr3016=) c.5016T>C (p.Thr1672=) n.2709T>C c.861T>C (p.Thr287=) c.2136T>C (p.Thr712=) c.9036T>C (p.Thr3012=) c.9033T>C (p.Thr3011=) c.9045T>C (p.Thr3015=) c.9024T>C (p.Thr3008=) c.8679T>C (p.Thr2893=) c.5025T>C (p.Thr1675=) c.8919T>C (p.Thr2973=) c.8910T>C (p.Thr2970=) c.8925T>C (p.Thr2975=) c.3222T>C (p.Thr1074=) | ClinVar |
| X | g.31444517A>T | CA515858213 | DMD | c.3894T>A (p.Thr1298=) c.1668T>A (p.Thr556=) n.2513T>A n.2540T>A c.903T>A (p.Thr301=) c.9048T>A (p.Thr3016=) c.5016T>A (p.Thr1672=) n.2709T>A c.861T>A (p.Thr287=) c.2136T>A (p.Thr712=) c.9036T>A (p.Thr3012=) c.9033T>A (p.Thr3011=) c.9045T>A (p.Thr3015=) c.9024T>A (p.Thr3008=) c.8679T>A (p.Thr2893=) c.5025T>A (p.Thr1675=) c.8919T>A (p.Thr2973=) c.8910T>A (p.Thr2970=) c.8925T>A (p.Thr2975=) c.3222T>A (p.Thr1074=) | |
| X | g.31444518G>A | CA412655106 | DMD | c.3893C>T (p.Thr1298Ile) c.1667C>T (p.Thr556Ile) n.2512C>T n.2539C>T c.902C>T (p.Thr301Ile) c.9047C>T (p.Thr3016Ile) c.5015C>T (p.Thr1672Ile) n.2708C>T c.860C>T (p.Thr287Ile) c.2135C>T (p.Thr712Ile) c.9035C>T (p.Thr3012Ile) c.9032C>T (p.Thr3011Ile) c.9044C>T (p.Thr3015Ile) c.9023C>T (p.Thr3008Ile) c.8678C>T (p.Thr2893Ile) c.5024C>T (p.Thr1675Ile) c.8918C>T (p.Thr2973Ile) c.8909C>T (p.Thr2970Ile) c.8924C>T (p.Thr2975Ile) c.3221C>T (p.Thr1074Ile) | ClinVar gnomAD v4 |
| X | g.31444518G>C | CA328429787 | DMD | c.3893C>G (p.Thr1298Ser) c.1667C>G (p.Thr556Ser) n.2512C>G n.2539C>G c.902C>G (p.Thr301Ser) c.9047C>G (p.Thr3016Ser) c.5015C>G (p.Thr1672Ser) n.2708C>G c.860C>G (p.Thr287Ser) c.2135C>G (p.Thr712Ser) c.9035C>G (p.Thr3012Ser) c.9032C>G (p.Thr3011Ser) c.9044C>G (p.Thr3015Ser) c.9023C>G (p.Thr3008Ser) c.8678C>G (p.Thr2893Ser) c.5024C>G (p.Thr1675Ser) c.8918C>G (p.Thr2973Ser) c.8909C>G (p.Thr2970Ser) c.8924C>G (p.Thr2975Ser) c.3221C>G (p.Thr1074Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.31444518G= | CA2422434040 | DMD | c.3893C= (p.Thr1298=) c.1667C= (p.Thr556=) n.2512C= n.2539C= c.902C= (p.Thr301=) c.9047C= (p.Thr3016=) c.5015C= (p.Thr1672=) n.2708C= c.860C= (p.Thr287=) c.2135C= (p.Thr712=) c.9035C= (p.Thr3012=) c.9032C= (p.Thr3011=) c.9044C= (p.Thr3015=) c.9023C= (p.Thr3008=) c.8678C= (p.Thr2893=) c.5024C= (p.Thr1675=) c.8918C= (p.Thr2973=) c.8909C= (p.Thr2970=) c.8924C= (p.Thr2975=) c.3221C= (p.Thr1074=) | |
| X | g.31444518G>T | CA412655107 | DMD | c.3893C>A (p.Thr1298Asn) c.1667C>A (p.Thr556Asn) n.2512C>A n.2539C>A c.902C>A (p.Thr301Asn) c.9047C>A (p.Thr3016Asn) c.5015C>A (p.Thr1672Asn) n.2708C>A c.860C>A (p.Thr287Asn) c.2135C>A (p.Thr712Asn) c.9035C>A (p.Thr3012Asn) c.9032C>A (p.Thr3011Asn) c.9044C>A (p.Thr3015Asn) c.9023C>A (p.Thr3008Asn) c.8678C>A (p.Thr2893Asn) c.5024C>A (p.Thr1675Asn) c.8918C>A (p.Thr2973Asn) c.8909C>A (p.Thr2970Asn) c.8924C>A (p.Thr2975Asn) c.3221C>A (p.Thr1074Asn) | |
| X | g.31444519T>A | CA412655108 | DMD | c.3892A>T (p.Thr1298Ser) c.1666A>T (p.Thr556Ser) n.2511A>T n.2538A>T c.901A>T (p.Thr301Ser) c.9046A>T (p.Thr3016Ser) c.5014A>T (p.Thr1672Ser) n.2707A>T c.859A>T (p.Thr287Ser) c.2134A>T (p.Thr712Ser) c.9034A>T (p.Thr3012Ser) c.9031A>T (p.Thr3011Ser) c.9043A>T (p.Thr3015Ser) c.9022A>T (p.Thr3008Ser) c.8677A>T (p.Thr2893Ser) c.5023A>T (p.Thr1675Ser) c.8917A>T (p.Thr2973Ser) c.8908A>T (p.Thr2970Ser) c.8923A>T (p.Thr2975Ser) c.3220A>T (p.Thr1074Ser) | |
| X | g.31444519T>C | CA412655109 | DMD | c.3892A>G (p.Thr1298Ala) c.1666A>G (p.Thr556Ala) n.2511A>G n.2538A>G c.901A>G (p.Thr301Ala) c.9046A>G (p.Thr3016Ala) c.5014A>G (p.Thr1672Ala) n.2707A>G c.859A>G (p.Thr287Ala) c.2134A>G (p.Thr712Ala) c.9034A>G (p.Thr3012Ala) c.9031A>G (p.Thr3011Ala) c.9043A>G (p.Thr3015Ala) c.9022A>G (p.Thr3008Ala) c.8677A>G (p.Thr2893Ala) c.5023A>G (p.Thr1675Ala) c.8917A>G (p.Thr2973Ala) c.8908A>G (p.Thr2970Ala) c.8923A>G (p.Thr2975Ala) c.3220A>G (p.Thr1074Ala) | |
| X | g.31444519T>G | CA412655110 | DMD | c.3892A>C (p.Thr1298Pro) c.1666A>C (p.Thr556Pro) n.2511A>C n.2538A>C c.901A>C (p.Thr301Pro) c.9046A>C (p.Thr3016Pro) c.5014A>C (p.Thr1672Pro) n.2707A>C c.859A>C (p.Thr287Pro) c.2134A>C (p.Thr712Pro) c.9034A>C (p.Thr3012Pro) c.9031A>C (p.Thr3011Pro) c.9043A>C (p.Thr3015Pro) c.9022A>C (p.Thr3008Pro) c.8677A>C (p.Thr2893Pro) c.5023A>C (p.Thr1675Pro) c.8917A>C (p.Thr2973Pro) c.8908A>C (p.Thr2970Pro) c.8923A>C (p.Thr2975Pro) c.3220A>C (p.Thr1074Pro) | |
| X | g.31444520G>A | CA515858215 | DMD | c.3891C>T (p.Ser1297=) c.1665C>T (p.Ser555=) n.2510C>T n.2537C>T c.900C>T (p.Ser300=) c.9045C>T (p.Ser3015=) c.5013C>T (p.Ser1671=) n.2706C>T c.858C>T (p.Ser286=) c.2133C>T (p.Ser711=) c.9033C>T (p.Ser3011=) c.9030C>T (p.Ser3010=) c.9042C>T (p.Ser3014=) c.9021C>T (p.Ser3007=) c.8676C>T (p.Ser2892=) c.5022C>T (p.Ser1674=) c.8916C>T (p.Ser2972=) c.8907C>T (p.Ser2969=) c.8922C>T (p.Ser2974=) c.3219C>T (p.Ser1073=) | gnomAD v4 |
| X | g.31444520G>C | CA412655111 | DMD | c.3891C>G (p.Ser1297Arg) c.1665C>G (p.Ser555Arg) n.2510C>G n.2537C>G c.900C>G (p.Ser300Arg) c.9045C>G (p.Ser3015Arg) c.5013C>G (p.Ser1671Arg) n.2706C>G c.858C>G (p.Ser286Arg) c.2133C>G (p.Ser711Arg) c.9033C>G (p.Ser3011Arg) c.9030C>G (p.Ser3010Arg) c.9042C>G (p.Ser3014Arg) c.9021C>G (p.Ser3007Arg) c.8676C>G (p.Ser2892Arg) c.5022C>G (p.Ser1674Arg) c.8916C>G (p.Ser2972Arg) c.8907C>G (p.Ser2969Arg) c.8922C>G (p.Ser2974Arg) c.3219C>G (p.Ser1073Arg) | |
| X | g.31444520G>T | CA412655112 | DMD | c.3891C>A (p.Ser1297Arg) c.1665C>A (p.Ser555Arg) n.2510C>A n.2537C>A c.900C>A (p.Ser300Arg) c.9045C>A (p.Ser3015Arg) c.5013C>A (p.Ser1671Arg) n.2706C>A c.858C>A (p.Ser286Arg) c.2133C>A (p.Ser711Arg) c.9033C>A (p.Ser3011Arg) c.9030C>A (p.Ser3010Arg) c.9042C>A (p.Ser3014Arg) c.9021C>A (p.Ser3007Arg) c.8676C>A (p.Ser2892Arg) c.5022C>A (p.Ser1674Arg) c.8916C>A (p.Ser2972Arg) c.8907C>A (p.Ser2969Arg) c.8922C>A (p.Ser2974Arg) c.3219C>A (p.Ser1073Arg) | |
| X | g.31444521C>A | CA412655113 | DMD | c.3890G>T (p.Ser1297Ile) c.1664G>T (p.Ser555Ile) n.2509G>T n.2536G>T c.899G>T (p.Ser300Ile) c.9044G>T (p.Ser3015Ile) c.5012G>T (p.Ser1671Ile) n.2705G>T c.857G>T (p.Ser286Ile) c.2132G>T (p.Ser711Ile) c.9032G>T (p.Ser3011Ile) c.9029G>T (p.Ser3010Ile) c.9041G>T (p.Ser3014Ile) c.9020G>T (p.Ser3007Ile) c.8675G>T (p.Ser2892Ile) c.5021G>T (p.Ser1674Ile) c.8915G>T (p.Ser2972Ile) c.8906G>T (p.Ser2969Ile) c.8921G>T (p.Ser2974Ile) c.3218G>T (p.Ser1073Ile) | |
| X | g.31444521C>G | CA412655114 | DMD | c.3890G>C (p.Ser1297Thr) c.1664G>C (p.Ser555Thr) n.2509G>C n.2536G>C c.899G>C (p.Ser300Thr) c.9044G>C (p.Ser3015Thr) c.5012G>C (p.Ser1671Thr) n.2705G>C c.857G>C (p.Ser286Thr) c.2132G>C (p.Ser711Thr) c.9032G>C (p.Ser3011Thr) c.9029G>C (p.Ser3010Thr) c.9041G>C (p.Ser3014Thr) c.9020G>C (p.Ser3007Thr) c.8675G>C (p.Ser2892Thr) c.5021G>C (p.Ser1674Thr) c.8915G>C (p.Ser2972Thr) c.8906G>C (p.Ser2969Thr) c.8921G>C (p.Ser2974Thr) c.3218G>C (p.Ser1073Thr) | |
| X | g.31444521C>T | CA412655115 | DMD | c.3890G>A (p.Ser1297Asn) c.1664G>A (p.Ser555Asn) n.2509G>A n.2536G>A c.899G>A (p.Ser300Asn) c.9044G>A (p.Ser3015Asn) c.5012G>A (p.Ser1671Asn) n.2705G>A c.857G>A (p.Ser286Asn) c.2132G>A (p.Ser711Asn) c.9032G>A (p.Ser3011Asn) c.9029G>A (p.Ser3010Asn) c.9041G>A (p.Ser3014Asn) c.9020G>A (p.Ser3007Asn) c.8675G>A (p.Ser2892Asn) c.5021G>A (p.Ser1674Asn) c.8915G>A (p.Ser2972Asn) c.8906G>A (p.Ser2969Asn) c.8921G>A (p.Ser2974Asn) c.3218G>A (p.Ser1073Asn) | |
| X | g.31444522T>A | CA412655116 | DMD | c.3889A>T (p.Ser1297Cys) c.1663A>T (p.Ser555Cys) n.2508A>T n.2535A>T c.898A>T (p.Ser300Cys) c.9043A>T (p.Ser3015Cys) c.5011A>T (p.Ser1671Cys) n.2704A>T c.856A>T (p.Ser286Cys) c.2131A>T (p.Ser711Cys) c.9031A>T (p.Ser3011Cys) c.9028A>T (p.Ser3010Cys) c.9040A>T (p.Ser3014Cys) c.9019A>T (p.Ser3007Cys) c.8674A>T (p.Ser2892Cys) c.5020A>T (p.Ser1674Cys) c.8914A>T (p.Ser2972Cys) c.8905A>T (p.Ser2969Cys) c.8920A>T (p.Ser2974Cys) c.3217A>T (p.Ser1073Cys) | |
| X | g.31444522T>C | CA412655118 | DMD | c.3889A>G (p.Ser1297Gly) c.1663A>G (p.Ser555Gly) n.2508A>G n.2535A>G c.898A>G (p.Ser300Gly) c.9043A>G (p.Ser3015Gly) c.5011A>G (p.Ser1671Gly) n.2704A>G c.856A>G (p.Ser286Gly) c.2131A>G (p.Ser711Gly) c.9031A>G (p.Ser3011Gly) c.9028A>G (p.Ser3010Gly) c.9040A>G (p.Ser3014Gly) c.9019A>G (p.Ser3007Gly) c.8674A>G (p.Ser2892Gly) c.5020A>G (p.Ser1674Gly) c.8914A>G (p.Ser2972Gly) c.8905A>G (p.Ser2969Gly) c.8920A>G (p.Ser2974Gly) c.3217A>G (p.Ser1073Gly) | |
| X | g.31444522T>G | CA412655117 | DMD | c.3889A>C (p.Ser1297Arg) c.1663A>C (p.Ser555Arg) n.2508A>C n.2535A>C c.898A>C (p.Ser300Arg) c.9043A>C (p.Ser3015Arg) c.5011A>C (p.Ser1671Arg) n.2704A>C c.856A>C (p.Ser286Arg) c.2131A>C (p.Ser711Arg) c.9031A>C (p.Ser3011Arg) c.9028A>C (p.Ser3010Arg) c.9040A>C (p.Ser3014Arg) c.9019A>C (p.Ser3007Arg) c.8674A>C (p.Ser2892Arg) c.5020A>C (p.Ser1674Arg) c.8914A>C (p.Ser2972Arg) c.8905A>C (p.Ser2969Arg) c.8920A>C (p.Ser2974Arg) c.3217A>C (p.Ser1073Arg) | |
| X | g.31444523G>A | CA515858217 | DMD | c.3888C>T (p.Leu1296=) c.1662C>T (p.Leu554=) n.2507C>T n.2534C>T c.897C>T (p.Leu299=) c.9042C>T (p.Leu3014=) c.5010C>T (p.Leu1670=) n.2703C>T c.855C>T (p.Leu285=) c.2130C>T (p.Leu710=) c.9030C>T (p.Leu3010=) c.9027C>T (p.Leu3009=) c.9039C>T (p.Leu3013=) c.9018C>T (p.Leu3006=) c.8673C>T (p.Leu2891=) c.5019C>T (p.Leu1673=) c.8913C>T (p.Leu2971=) c.8904C>T (p.Leu2968=) c.8919C>T (p.Leu2973=) c.3216C>T (p.Leu1072=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31444523G>C | CA515858218 | DMD | c.3888C>G (p.Leu1296=) c.1662C>G (p.Leu554=) n.2507C>G n.2534C>G c.897C>G (p.Leu299=) c.9042C>G (p.Leu3014=) c.5010C>G (p.Leu1670=) n.2703C>G c.855C>G (p.Leu285=) c.2130C>G (p.Leu710=) c.9030C>G (p.Leu3010=) c.9027C>G (p.Leu3009=) c.9039C>G (p.Leu3013=) c.9018C>G (p.Leu3006=) c.8673C>G (p.Leu2891=) c.5019C>G (p.Leu1673=) c.8913C>G (p.Leu2971=) c.8904C>G (p.Leu2968=) c.8919C>G (p.Leu2973=) c.3216C>G (p.Leu1072=) | |
| X | g.31444523G= | CA2422434041 | DMD | c.3888C= (p.Leu1296=) c.1662C= (p.Leu554=) n.2507C= n.2534C= c.897C= (p.Leu299=) c.9042C= (p.Leu3014=) c.5010C= (p.Leu1670=) n.2703C= c.855C= (p.Leu285=) c.2130C= (p.Leu710=) c.9030C= (p.Leu3010=) c.9027C= (p.Leu3009=) c.9039C= (p.Leu3013=) c.9018C= (p.Leu3006=) c.8673C= (p.Leu2891=) c.5019C= (p.Leu1673=) c.8913C= (p.Leu2971=) c.8904C= (p.Leu2968=) c.8919C= (p.Leu2973=) c.3216C= (p.Leu1072=) | |
| X | g.31444523G>T | CA515858219 | DMD | c.3888C>A (p.Leu1296=) c.1662C>A (p.Leu554=) n.2507C>A n.2534C>A c.897C>A (p.Leu299=) c.9042C>A (p.Leu3014=) c.5010C>A (p.Leu1670=) n.2703C>A c.855C>A (p.Leu285=) c.2130C>A (p.Leu710=) c.9030C>A (p.Leu3010=) c.9027C>A (p.Leu3009=) c.9039C>A (p.Leu3013=) c.9018C>A (p.Leu3006=) c.8673C>A (p.Leu2891=) c.5019C>A (p.Leu1673=) c.8913C>A (p.Leu2971=) c.8904C>A (p.Leu2968=) c.8919C>A (p.Leu2973=) c.3216C>A (p.Leu1072=) | |
| X | g.31444524A= | CA2422434042 | DMD | c.3887T= (p.Leu1296=) c.1661T= (p.Leu554=) n.2506T= n.2533T= c.896T= (p.Leu299=) c.9041T= (p.Leu3014=) c.5009T= (p.Leu1670=) n.2702T= c.854T= (p.Leu285=) c.2129T= (p.Leu710=) c.9029T= (p.Leu3010=) c.9026T= (p.Leu3009=) c.9038T= (p.Leu3013=) c.9017T= (p.Leu3006=) c.8672T= (p.Leu2891=) c.5018T= (p.Leu1673=) c.8912T= (p.Leu2971=) c.8903T= (p.Leu2968=) c.8918T= (p.Leu2973=) c.3215T= (p.Leu1072=) | |
| X | g.31444524A>C | CA412655119 | DMD | c.3887T>G (p.Leu1296Arg) c.1661T>G (p.Leu554Arg) n.2506T>G n.2533T>G c.896T>G (p.Leu299Arg) c.9041T>G (p.Leu3014Arg) c.5009T>G (p.Leu1670Arg) n.2702T>G c.854T>G (p.Leu285Arg) c.2129T>G (p.Leu710Arg) c.9029T>G (p.Leu3010Arg) c.9026T>G (p.Leu3009Arg) c.9038T>G (p.Leu3013Arg) c.9017T>G (p.Leu3006Arg) c.8672T>G (p.Leu2891Arg) c.5018T>G (p.Leu1673Arg) c.8912T>G (p.Leu2971Arg) c.8903T>G (p.Leu2968Arg) c.8918T>G (p.Leu2973Arg) c.3215T>G (p.Leu1072Arg) | |
| X | g.31444524A>G | CA412655120 | DMD | c.3887T>C (p.Leu1296Pro) c.1661T>C (p.Leu554Pro) n.2506T>C n.2533T>C c.896T>C (p.Leu299Pro) c.9041T>C (p.Leu3014Pro) c.5009T>C (p.Leu1670Pro) n.2702T>C c.854T>C (p.Leu285Pro) c.2129T>C (p.Leu710Pro) c.9029T>C (p.Leu3010Pro) c.9026T>C (p.Leu3009Pro) c.9038T>C (p.Leu3013Pro) c.9017T>C (p.Leu3006Pro) c.8672T>C (p.Leu2891Pro) c.5018T>C (p.Leu1673Pro) c.8912T>C (p.Leu2971Pro) c.8903T>C (p.Leu2968Pro) c.8918T>C (p.Leu2973Pro) c.3215T>C (p.Leu1072Pro) | |
| X | g.31444524A>T | CA412655121 | DMD | c.3887T>A (p.Leu1296His) c.1661T>A (p.Leu554His) n.2506T>A n.2533T>A c.896T>A (p.Leu299His) c.9041T>A (p.Leu3014His) c.5009T>A (p.Leu1670His) n.2702T>A c.854T>A (p.Leu285His) c.2129T>A (p.Leu710His) c.9029T>A (p.Leu3010His) c.9026T>A (p.Leu3009His) c.9038T>A (p.Leu3013His) c.9017T>A (p.Leu3006His) c.8672T>A (p.Leu2891His) c.5018T>A (p.Leu1673His) c.8912T>A (p.Leu2971His) c.8903T>A (p.Leu2968His) c.8918T>A (p.Leu2973His) c.3215T>A (p.Leu1072His) | |
| X | g.31444525_31444531del | CA2573055258 | DMD | c.3881_3887del (p.Tyr1294SerfsTer7) c.1655_1661del (p.Tyr552SerfsTer7) n.2500_2506del n.2527_2533del c.890_896del (p.Tyr297SerfsTer7) c.9035_9041del (p.Tyr3012SerfsTer7) c.5003_5009del (p.Tyr1668SerfsTer7) n.2696_2702del c.848_854del (p.Tyr283SerfsTer7) c.2123_2129del (p.Tyr708SerfsTer7) c.9023_9029del (p.Tyr3008SerfsTer7) c.9020_9026del (p.Tyr3007SerfsTer7) c.9032_9038del (p.Tyr3011SerfsTer7) c.9011_9017del (p.Tyr3004SerfsTer7) c.8666_8672del (p.Tyr2889SerfsTer7) c.5012_5018del (p.Tyr1671SerfsTer7) c.8906_8912del (p.Tyr2969SerfsTer7) c.8897_8903del (p.Tyr2966SerfsTer7) c.8912_8918del (p.Tyr2971SerfsTer7) c.3209_3215del (p.Tyr1070SerfsTer7) | dbSNP |
| X | g.31444524_31444532delinsAGGTTATAC | CA2422434043 | DMD | c.3879_3887delinsGTATAACCT (p.Pro1293=) c.1653_1661delinsGTATAACCT (p.Pro551=) n.2498_2506delinsGTATAACCT n.2525_2533delinsGTATAACCT c.888_896delinsGTATAACCT (p.Pro296=) c.9033_9041delinsGTATAACCT (p.Pro3011=) c.5001_5009delinsGTATAACCT (p.Pro1667=) n.2694_2702delinsGTATAACCT c.846_854delinsGTATAACCT (p.Pro282=) c.2121_2129delinsGTATAACCT (p.Pro707=) c.9021_9029delinsGTATAACCT (p.Pro3007=) c.9018_9026delinsGTATAACCT (p.Pro3006=) c.9030_9038delinsGTATAACCT (p.Pro3010=) c.9009_9017delinsGTATAACCT (p.Pro3003=) c.8664_8672delinsGTATAACCT (p.Pro2888=) c.5010_5018delinsGTATAACCT (p.Pro1670=) c.8904_8912delinsGTATAACCT (p.Pro2968=) c.8895_8903delinsGTATAACCT (p.Pro2965=) c.8910_8918delinsGTATAACCT (p.Pro2970=) c.3207_3215delinsGTATAACCT (p.Pro1069=) | |
| X | g.31444525G>A | CA10377933 | DMD | c.3886C>T (p.Leu1296Phe) c.1660C>T (p.Leu554Phe) n.2505C>T n.2532C>T c.895C>T (p.Leu299Phe) c.9040C>T (p.Leu3014Phe) c.5008C>T (p.Leu1670Phe) n.2701C>T c.853C>T (p.Leu285Phe) c.2128C>T (p.Leu710Phe) c.9028C>T (p.Leu3010Phe) c.9025C>T (p.Leu3009Phe) c.9037C>T (p.Leu3013Phe) c.9016C>T (p.Leu3006Phe) c.8671C>T (p.Leu2891Phe) c.5017C>T (p.Leu1673Phe) c.8911C>T (p.Leu2971Phe) c.8902C>T (p.Leu2968Phe) c.8917C>T (p.Leu2973Phe) c.3214C>T (p.Leu1072Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444525G>C | CA412655122 | DMD | c.3886C>G (p.Leu1296Val) c.1660C>G (p.Leu554Val) n.2505C>G n.2532C>G c.895C>G (p.Leu299Val) c.9040C>G (p.Leu3014Val) c.5008C>G (p.Leu1670Val) n.2701C>G c.853C>G (p.Leu285Val) c.2128C>G (p.Leu710Val) c.9028C>G (p.Leu3010Val) c.9025C>G (p.Leu3009Val) c.9037C>G (p.Leu3013Val) c.9016C>G (p.Leu3006Val) c.8671C>G (p.Leu2891Val) c.5017C>G (p.Leu1673Val) c.8911C>G (p.Leu2971Val) c.8902C>G (p.Leu2968Val) c.8917C>G (p.Leu2973Val) c.3214C>G (p.Leu1072Val) | |
| X | g.31444525G= | CA2422434044 | DMD | c.3886C= (p.Leu1296=) c.1660C= (p.Leu554=) n.2505C= n.2532C= c.895C= (p.Leu299=) c.9040C= (p.Leu3014=) c.5008C= (p.Leu1670=) n.2701C= c.853C= (p.Leu285=) c.2128C= (p.Leu710=) c.9028C= (p.Leu3010=) c.9025C= (p.Leu3009=) c.9037C= (p.Leu3013=) c.9016C= (p.Leu3006=) c.8671C= (p.Leu2891=) c.5017C= (p.Leu1673=) c.8911C= (p.Leu2971=) c.8902C= (p.Leu2968=) c.8917C= (p.Leu2973=) c.3214C= (p.Leu1072=) | |
| X | g.31444525G>T | CA412655123 | DMD | c.3886C>A (p.Leu1296Ile) c.1660C>A (p.Leu554Ile) n.2505C>A n.2532C>A c.895C>A (p.Leu299Ile) c.9040C>A (p.Leu3014Ile) c.5008C>A (p.Leu1670Ile) n.2701C>A c.853C>A (p.Leu285Ile) c.2128C>A (p.Leu710Ile) c.9028C>A (p.Leu3010Ile) c.9025C>A (p.Leu3009Ile) c.9037C>A (p.Leu3013Ile) c.9016C>A (p.Leu3006Ile) c.8671C>A (p.Leu2891Ile) c.5017C>A (p.Leu1673Ile) c.8911C>A (p.Leu2971Ile) c.8902C>A (p.Leu2968Ile) c.8917C>A (p.Leu2973Ile) c.3214C>A (p.Leu1072Ile) | |
| X | g.31444526dup | CA16616474 | DMD | c.3886dup (p.Leu1296ProfsTer27) c.1660dup (p.Leu554ProfsTer27) n.2505dup n.2532dup c.895dup (p.Leu299ProfsTer27) c.9040dup (p.Leu3014ProfsTer27) c.5008dup (p.Leu1670ProfsTer27) n.2701dup c.853dup (p.Leu285ProfsTer27) c.2128dup (p.Leu710ProfsTer27) c.9028dup (p.Leu3010ProfsTer27) c.9025dup (p.Leu3009ProfsTer27) c.9037dup (p.Leu3013ProfsTer27) c.9016dup (p.Leu3006ProfsTer27) c.8671dup (p.Leu2891ProfsTer27) c.5017dup (p.Leu1673ProfsTer27) c.8911dup (p.Leu2971ProfsTer27) c.8902dup (p.Leu2968ProfsTer27) c.8917dup (p.Leu2973ProfsTer27) c.3214dup (p.Leu1072ProfsTer27) | ClinVar dbSNP |
| X | g.31444528_31444535del | CA915950938 | DMD | c.3879_3886del (p.Tyr1294GlnfsTer26) c.1653_1660del (p.Tyr552GlnfsTer26) n.2498_2505del n.2525_2532del c.888_895del (p.Tyr297GlnfsTer26) c.9033_9040del (p.Tyr3012GlnfsTer26) c.5001_5008del (p.Tyr1668GlnfsTer26) n.2694_2701del c.846_853del (p.Tyr283GlnfsTer26) c.2121_2128del (p.Tyr708GlnfsTer26) c.9021_9028del (p.Tyr3008GlnfsTer26) c.9018_9025del (p.Tyr3007GlnfsTer26) c.9030_9037del (p.Tyr3011GlnfsTer26) c.9009_9016del (p.Tyr3004GlnfsTer26) c.8664_8671del (p.Tyr2889GlnfsTer26) c.5010_5017del (p.Tyr1671GlnfsTer26) c.8904_8911del (p.Tyr2969GlnfsTer26) c.8895_8902del (p.Tyr2966GlnfsTer26) c.8910_8917del (p.Tyr2971GlnfsTer26) c.3207_3214del (p.Tyr1070GlnfsTer26) | ClinVar dbSNP |
| X | g.31444526G>A | CA515858220 | DMD | c.3885C>T (p.Asn1295=) c.1659C>T (p.Asn553=) n.2504C>T n.2531C>T c.894C>T (p.Asn298=) c.9039C>T (p.Asn3013=) c.5007C>T (p.Asn1669=) n.2700C>T c.852C>T (p.Asn284=) c.2127C>T (p.Asn709=) c.9027C>T (p.Asn3009=) c.9024C>T (p.Asn3008=) c.9036C>T (p.Asn3012=) c.9015C>T (p.Asn3005=) c.8670C>T (p.Asn2890=) c.5016C>T (p.Asn1672=) c.8910C>T (p.Asn2970=) c.8901C>T (p.Asn2967=) c.8916C>T (p.Asn2972=) c.3213C>T (p.Asn1071=) | ClinVar dbSNP |
| X | g.31444526G>C | CA412655124 | DMD | c.3885C>G (p.Asn1295Lys) c.1659C>G (p.Asn553Lys) n.2504C>G n.2531C>G c.894C>G (p.Asn298Lys) c.9039C>G (p.Asn3013Lys) c.5007C>G (p.Asn1669Lys) n.2700C>G c.852C>G (p.Asn284Lys) c.2127C>G (p.Asn709Lys) c.9027C>G (p.Asn3009Lys) c.9024C>G (p.Asn3008Lys) c.9036C>G (p.Asn3012Lys) c.9015C>G (p.Asn3005Lys) c.8670C>G (p.Asn2890Lys) c.5016C>G (p.Asn1672Lys) c.8910C>G (p.Asn2970Lys) c.8901C>G (p.Asn2967Lys) c.8916C>G (p.Asn2972Lys) c.3213C>G (p.Asn1071Lys) | |
| X | g.31444526G= | CA2422434045 | DMD | c.3885C= (p.Asn1295=) c.1659C= (p.Asn553=) n.2504C= n.2531C= c.894C= (p.Asn298=) c.9039C= (p.Asn3013=) c.5007C= (p.Asn1669=) n.2700C= c.852C= (p.Asn284=) c.2127C= (p.Asn709=) c.9027C= (p.Asn3009=) c.9024C= (p.Asn3008=) c.9036C= (p.Asn3012=) c.9015C= (p.Asn3005=) c.8670C= (p.Asn2890=) c.5016C= (p.Asn1672=) c.8910C= (p.Asn2970=) c.8901C= (p.Asn2967=) c.8916C= (p.Asn2972=) c.3213C= (p.Asn1071=) | |
| X | g.31444526G>T | CA412655125 | DMD | c.3885C>A (p.Asn1295Lys) c.1659C>A (p.Asn553Lys) n.2504C>A n.2531C>A c.894C>A (p.Asn298Lys) c.9039C>A (p.Asn3013Lys) c.5007C>A (p.Asn1669Lys) n.2700C>A c.852C>A (p.Asn284Lys) c.2127C>A (p.Asn709Lys) c.9027C>A (p.Asn3009Lys) c.9024C>A (p.Asn3008Lys) c.9036C>A (p.Asn3012Lys) c.9015C>A (p.Asn3005Lys) c.8670C>A (p.Asn2890Lys) c.5016C>A (p.Asn1672Lys) c.8910C>A (p.Asn2970Lys) c.8901C>A (p.Asn2967Lys) c.8916C>A (p.Asn2972Lys) c.3213C>A (p.Asn1071Lys) | |
| X | g.31444526_31444527insATAGGATATTTTATATTAGT | CA2422434046 | DMD | c.3884_3885insACTAATATAAAATATCCTAT (p.Asn1295LysfsTer4) c.1658_1659insACTAATATAAAATATCCTAT (p.Asn553LysfsTer4) n.2503_2504insACTAATATAAAATATCCTAT n.2530_2531insACTAATATAAAATATCCTAT c.893_894insACTAATATAAAATATCCTAT (p.Asn298LysfsTer4) c.9038_9039insACTAATATAAAATATCCTAT (p.Asn3013LysfsTer4) c.5006_5007insACTAATATAAAATATCCTAT (p.Asn1669LysfsTer4) n.2699_2700insACTAATATAAAATATCCTAT c.851_852insACTAATATAAAATATCCTAT (p.Asn284LysfsTer4) c.2126_2127insACTAATATAAAATATCCTAT (p.Asn709LysfsTer4) c.9026_9027insACTAATATAAAATATCCTAT (p.Asn3009LysfsTer4) c.9023_9024insACTAATATAAAATATCCTAT (p.Asn3008LysfsTer4) c.9035_9036insACTAATATAAAATATCCTAT (p.Asn3012LysfsTer4) c.9014_9015insACTAATATAAAATATCCTAT (p.Asn3005LysfsTer4) c.8669_8670insACTAATATAAAATATCCTAT (p.Asn2890LysfsTer4) c.5015_5016insACTAATATAAAATATCCTAT (p.Asn1672LysfsTer4) c.8909_8910insACTAATATAAAATATCCTAT (p.Asn2970LysfsTer4) c.8900_8901insACTAATATAAAATATCCTAT (p.Asn2967LysfsTer4) c.8915_8916insACTAATATAAAATATCCTAT (p.Asn2972LysfsTer4) c.3212_3213insACTAATATAAAATATCCTAT (p.Asn1071LysfsTer4) | dbSNP |
| X | g.31444527T>A | CA412655126 | DMD | c.3884A>T (p.Asn1295Ile) c.1658A>T (p.Asn553Ile) n.2503A>T n.2530A>T c.893A>T (p.Asn298Ile) c.9038A>T (p.Asn3013Ile) c.5006A>T (p.Asn1669Ile) n.2699A>T c.851A>T (p.Asn284Ile) c.2126A>T (p.Asn709Ile) c.9026A>T (p.Asn3009Ile) c.9023A>T (p.Asn3008Ile) c.9035A>T (p.Asn3012Ile) c.9014A>T (p.Asn3005Ile) c.8669A>T (p.Asn2890Ile) c.5015A>T (p.Asn1672Ile) c.8909A>T (p.Asn2970Ile) c.8900A>T (p.Asn2967Ile) c.8915A>T (p.Asn2972Ile) c.3212A>T (p.Asn1071Ile) | |
| X | g.31444527T>C | CA412655127 | DMD | c.3884A>G (p.Asn1295Ser) c.1658A>G (p.Asn553Ser) n.2503A>G n.2530A>G c.893A>G (p.Asn298Ser) c.9038A>G (p.Asn3013Ser) c.5006A>G (p.Asn1669Ser) n.2699A>G c.851A>G (p.Asn284Ser) c.2126A>G (p.Asn709Ser) c.9026A>G (p.Asn3009Ser) c.9023A>G (p.Asn3008Ser) c.9035A>G (p.Asn3012Ser) c.9014A>G (p.Asn3005Ser) c.8669A>G (p.Asn2890Ser) c.5015A>G (p.Asn1672Ser) c.8909A>G (p.Asn2970Ser) c.8900A>G (p.Asn2967Ser) c.8915A>G (p.Asn2972Ser) c.3212A>G (p.Asn1071Ser) | |
| X | g.31444527T>G | CA412655128 | DMD | c.3884A>C (p.Asn1295Thr) c.1658A>C (p.Asn553Thr) n.2503A>C n.2530A>C c.893A>C (p.Asn298Thr) c.9038A>C (p.Asn3013Thr) c.5006A>C (p.Asn1669Thr) n.2699A>C c.851A>C (p.Asn284Thr) c.2126A>C (p.Asn709Thr) c.9026A>C (p.Asn3009Thr) c.9023A>C (p.Asn3008Thr) c.9035A>C (p.Asn3012Thr) c.9014A>C (p.Asn3005Thr) c.8669A>C (p.Asn2890Thr) c.5015A>C (p.Asn1672Thr) c.8909A>C (p.Asn2970Thr) c.8900A>C (p.Asn2967Thr) c.8915A>C (p.Asn2972Thr) c.3212A>C (p.Asn1071Thr) | |
| X | g.31444528_31444542dup | CA10377934 | DMD | c.3870_3884dup (p.Tyr1294_Asn1295insLysLeuSerProTyr) c.1644_1658dup (p.Tyr552_Asn553insLysLeuSerProTyr) n.2489_2503dup n.2516_2530dup c.879_893dup (p.Tyr297_Asn298insLysLeuSerProTyr) c.9024_9038dup (p.Tyr3012_Asn3013insLysLeuSerProTyr) c.4992_5006dup (p.Tyr1668_Asn1669insLysLeuSerProTyr) n.2685_2699dup c.837_851dup (p.Tyr283_Asn284insLysLeuSerProTyr) c.2112_2126dup (p.Tyr708_Asn709insLysLeuSerProTyr) c.9012_9026dup (p.Tyr3008_Asn3009insLysLeuSerProTyr) c.9009_9023dup (p.Tyr3007_Asn3008insLysLeuSerProTyr) c.9021_9035dup (p.Tyr3011_Asn3012insLysLeuSerProTyr) c.9000_9014dup (p.Tyr3004_Asn3005insLysLeuSerProTyr) c.8655_8669dup (p.Tyr2889_Asn2890insLysLeuSerProTyr) c.5001_5015dup (p.Tyr1671_Asn1672insLysLeuSerProTyr) c.8895_8909dup (p.Tyr2969_Asn2970insLysLeuSerProTyr) c.8886_8900dup (p.Tyr2966_Asn2967insLysLeuSerProTyr) c.8901_8915dup (p.Tyr2971_Asn2972insLysLeuSerProTyr) c.3198_3212dup (p.Tyr1070_Asn1071insLysLeuSerProTyr) | dbSNP ExAC |
| X | g.31444528T>A | CA412655131 | DMD | c.3883A>T (p.Asn1295Tyr) c.1657A>T (p.Asn553Tyr) n.2502A>T n.2529A>T c.892A>T (p.Asn298Tyr) c.9037A>T (p.Asn3013Tyr) c.5005A>T (p.Asn1669Tyr) n.2698A>T c.850A>T (p.Asn284Tyr) c.2125A>T (p.Asn709Tyr) c.9025A>T (p.Asn3009Tyr) c.9022A>T (p.Asn3008Tyr) c.9034A>T (p.Asn3012Tyr) c.9013A>T (p.Asn3005Tyr) c.8668A>T (p.Asn2890Tyr) c.5014A>T (p.Asn1672Tyr) c.8908A>T (p.Asn2970Tyr) c.8899A>T (p.Asn2967Tyr) c.8914A>T (p.Asn2972Tyr) c.3211A>T (p.Asn1071Tyr) | |
| X | g.31444528T>C | CA412655130 | DMD | c.3883A>G (p.Asn1295Asp) c.1657A>G (p.Asn553Asp) n.2502A>G n.2529A>G c.892A>G (p.Asn298Asp) c.9037A>G (p.Asn3013Asp) c.5005A>G (p.Asn1669Asp) n.2698A>G c.850A>G (p.Asn284Asp) c.2125A>G (p.Asn709Asp) c.9025A>G (p.Asn3009Asp) c.9022A>G (p.Asn3008Asp) c.9034A>G (p.Asn3012Asp) c.9013A>G (p.Asn3005Asp) c.8668A>G (p.Asn2890Asp) c.5014A>G (p.Asn1672Asp) c.8908A>G (p.Asn2970Asp) c.8899A>G (p.Asn2967Asp) c.8914A>G (p.Asn2972Asp) c.3211A>G (p.Asn1071Asp) | |
| X | g.31444528T>G | CA412655129 | DMD | c.3883A>C (p.Asn1295His) c.1657A>C (p.Asn553His) n.2502A>C n.2529A>C c.892A>C (p.Asn298His) c.9037A>C (p.Asn3013His) c.5005A>C (p.Asn1669His) n.2698A>C c.850A>C (p.Asn284His) c.2125A>C (p.Asn709His) c.9025A>C (p.Asn3009His) c.9022A>C (p.Asn3008His) c.9034A>C (p.Asn3012His) c.9013A>C (p.Asn3005His) c.8668A>C (p.Asn2890His) c.5014A>C (p.Asn1672His) c.8908A>C (p.Asn2970His) c.8899A>C (p.Asn2967His) c.8914A>C (p.Asn2972His) c.3211A>C (p.Asn1071His) | |
| X | g.31444529A>C | CA412655132 | DMD | c.3882T>G (p.Tyr1294Ter) c.1656T>G (p.Tyr552Ter) n.2501T>G n.2528T>G c.891T>G (p.Tyr297Ter) c.9036T>G (p.Tyr3012Ter) c.5004T>G (p.Tyr1668Ter) n.2697T>G c.849T>G (p.Tyr283Ter) c.2124T>G (p.Tyr708Ter) c.9024T>G (p.Tyr3008Ter) c.9021T>G (p.Tyr3007Ter) c.9033T>G (p.Tyr3011Ter) c.9012T>G (p.Tyr3004Ter) c.8667T>G (p.Tyr2889Ter) c.5013T>G (p.Tyr1671Ter) c.8907T>G (p.Tyr2969Ter) c.8898T>G (p.Tyr2966Ter) c.8913T>G (p.Tyr2971Ter) c.3210T>G (p.Tyr1070Ter) | |
| X | g.31444529A>G | CA515858222 | DMD | c.3882T>C (p.Tyr1294=) c.1656T>C (p.Tyr552=) n.2501T>C n.2528T>C c.891T>C (p.Tyr297=) c.9036T>C (p.Tyr3012=) c.5004T>C (p.Tyr1668=) n.2697T>C c.849T>C (p.Tyr283=) c.2124T>C (p.Tyr708=) c.9024T>C (p.Tyr3008=) c.9021T>C (p.Tyr3007=) c.9033T>C (p.Tyr3011=) c.9012T>C (p.Tyr3004=) c.8667T>C (p.Tyr2889=) c.5013T>C (p.Tyr1671=) c.8907T>C (p.Tyr2969=) c.8898T>C (p.Tyr2966=) c.8913T>C (p.Tyr2971=) c.3210T>C (p.Tyr1070=) | |
| X | g.31444529A>T | CA412655133 | DMD | c.3882T>A (p.Tyr1294Ter) c.1656T>A (p.Tyr552Ter) n.2501T>A n.2528T>A c.891T>A (p.Tyr297Ter) c.9036T>A (p.Tyr3012Ter) c.5004T>A (p.Tyr1668Ter) n.2697T>A c.849T>A (p.Tyr283Ter) c.2124T>A (p.Tyr708Ter) c.9024T>A (p.Tyr3008Ter) c.9021T>A (p.Tyr3007Ter) c.9033T>A (p.Tyr3011Ter) c.9012T>A (p.Tyr3004Ter) c.8667T>A (p.Tyr2889Ter) c.5013T>A (p.Tyr1671Ter) c.8907T>A (p.Tyr2969Ter) c.8898T>A (p.Tyr2966Ter) c.8913T>A (p.Tyr2971Ter) c.3210T>A (p.Tyr1070Ter) | dbSNP |
| X | g.31444530T>A | CA412655134 | DMD | c.3881A>T (p.Tyr1294Phe) c.1655A>T (p.Tyr552Phe) n.2500A>T n.2527A>T c.890A>T (p.Tyr297Phe) c.9035A>T (p.Tyr3012Phe) c.5003A>T (p.Tyr1668Phe) n.2696A>T c.848A>T (p.Tyr283Phe) c.2123A>T (p.Tyr708Phe) c.9023A>T (p.Tyr3008Phe) c.9020A>T (p.Tyr3007Phe) c.9032A>T (p.Tyr3011Phe) c.9011A>T (p.Tyr3004Phe) c.8666A>T (p.Tyr2889Phe) c.5012A>T (p.Tyr1671Phe) c.8906A>T (p.Tyr2969Phe) c.8897A>T (p.Tyr2966Phe) c.8912A>T (p.Tyr2971Phe) c.3209A>T (p.Tyr1070Phe) | |
| X | g.31444530T>C | CA412655135 | DMD | c.3881A>G (p.Tyr1294Cys) c.1655A>G (p.Tyr552Cys) n.2500A>G n.2527A>G c.890A>G (p.Tyr297Cys) c.9035A>G (p.Tyr3012Cys) c.5003A>G (p.Tyr1668Cys) n.2696A>G c.848A>G (p.Tyr283Cys) c.2123A>G (p.Tyr708Cys) c.9023A>G (p.Tyr3008Cys) c.9020A>G (p.Tyr3007Cys) c.9032A>G (p.Tyr3011Cys) c.9011A>G (p.Tyr3004Cys) c.8666A>G (p.Tyr2889Cys) c.5012A>G (p.Tyr1671Cys) c.8906A>G (p.Tyr2969Cys) c.8897A>G (p.Tyr2966Cys) c.8912A>G (p.Tyr2971Cys) c.3209A>G (p.Tyr1070Cys) | |
| X | g.31444530T>G | CA412655136 | DMD | c.3881A>C (p.Tyr1294Ser) c.1655A>C (p.Tyr552Ser) n.2500A>C n.2527A>C c.890A>C (p.Tyr297Ser) c.9035A>C (p.Tyr3012Ser) c.5003A>C (p.Tyr1668Ser) n.2696A>C c.848A>C (p.Tyr283Ser) c.2123A>C (p.Tyr708Ser) c.9023A>C (p.Tyr3008Ser) c.9020A>C (p.Tyr3007Ser) c.9032A>C (p.Tyr3011Ser) c.9011A>C (p.Tyr3004Ser) c.8666A>C (p.Tyr2889Ser) c.5012A>C (p.Tyr1671Ser) c.8906A>C (p.Tyr2969Ser) c.8897A>C (p.Tyr2966Ser) c.8912A>C (p.Tyr2971Ser) c.3209A>C (p.Tyr1070Ser) | |
| X | g.31444531A>C | CA412655137 | DMD | c.3880T>G (p.Tyr1294Asp) c.1654T>G (p.Tyr552Asp) n.2499T>G n.2526T>G c.889T>G (p.Tyr297Asp) c.9034T>G (p.Tyr3012Asp) c.5002T>G (p.Tyr1668Asp) n.2695T>G c.847T>G (p.Tyr283Asp) c.2122T>G (p.Tyr708Asp) c.9022T>G (p.Tyr3008Asp) c.9019T>G (p.Tyr3007Asp) c.9031T>G (p.Tyr3011Asp) c.9010T>G (p.Tyr3004Asp) c.8665T>G (p.Tyr2889Asp) c.5011T>G (p.Tyr1671Asp) c.8905T>G (p.Tyr2969Asp) c.8896T>G (p.Tyr2966Asp) c.8911T>G (p.Tyr2971Asp) c.3208T>G (p.Tyr1070Asp) | |
| X | g.31444531A>G | CA412655138 | DMD | c.3880T>C (p.Tyr1294His) c.1654T>C (p.Tyr552His) n.2499T>C n.2526T>C c.889T>C (p.Tyr297His) c.9034T>C (p.Tyr3012His) c.5002T>C (p.Tyr1668His) n.2695T>C c.847T>C (p.Tyr283His) c.2122T>C (p.Tyr708His) c.9022T>C (p.Tyr3008His) c.9019T>C (p.Tyr3007His) c.9031T>C (p.Tyr3011His) c.9010T>C (p.Tyr3004His) c.8665T>C (p.Tyr2889His) c.5011T>C (p.Tyr1671His) c.8905T>C (p.Tyr2969His) c.8896T>C (p.Tyr2966His) c.8911T>C (p.Tyr2971His) c.3208T>C (p.Tyr1070His) | |
| X | g.31444531A>T | CA412655139 | DMD | c.3880T>A (p.Tyr1294Asn) c.1654T>A (p.Tyr552Asn) n.2499T>A n.2526T>A c.889T>A (p.Tyr297Asn) c.9034T>A (p.Tyr3012Asn) c.5002T>A (p.Tyr1668Asn) n.2695T>A c.847T>A (p.Tyr283Asn) c.2122T>A (p.Tyr708Asn) c.9022T>A (p.Tyr3008Asn) c.9019T>A (p.Tyr3007Asn) c.9031T>A (p.Tyr3011Asn) c.9010T>A (p.Tyr3004Asn) c.8665T>A (p.Tyr2889Asn) c.5011T>A (p.Tyr1671Asn) c.8905T>A (p.Tyr2969Asn) c.8896T>A (p.Tyr2966Asn) c.8911T>A (p.Tyr2971Asn) c.3208T>A (p.Tyr1070Asn) | |
| X | g.31444532C>A | CA515858224 | DMD | c.3879G>T (p.Pro1293=) c.1653G>T (p.Pro551=) n.2498G>T n.2525G>T c.888G>T (p.Pro296=) c.9033G>T (p.Pro3011=) c.5001G>T (p.Pro1667=) n.2694G>T c.846G>T (p.Pro282=) c.2121G>T (p.Pro707=) c.9021G>T (p.Pro3007=) c.9018G>T (p.Pro3006=) c.9030G>T (p.Pro3010=) c.9009G>T (p.Pro3003=) c.8664G>T (p.Pro2888=) c.5010G>T (p.Pro1670=) c.8904G>T (p.Pro2968=) c.8895G>T (p.Pro2965=) c.8910G>T (p.Pro2970=) c.3207G>T (p.Pro1069=) | gnomAD v4 |
| X | g.31444532C= | CA2422434047 | DMD | c.3879G= (p.Pro1293=) c.1653G= (p.Pro551=) n.2498G= n.2525G= c.888G= (p.Pro296=) c.9033G= (p.Pro3011=) c.5001G= (p.Pro1667=) n.2694G= c.846G= (p.Pro282=) c.2121G= (p.Pro707=) c.9021G= (p.Pro3007=) c.9018G= (p.Pro3006=) c.9030G= (p.Pro3010=) c.9009G= (p.Pro3003=) c.8664G= (p.Pro2888=) c.5010G= (p.Pro1670=) c.8904G= (p.Pro2968=) c.8895G= (p.Pro2965=) c.8910G= (p.Pro2970=) c.3207G= (p.Pro1069=) | |
| X | g.31444532C>G | CA515858225 | DMD | c.3879G>C (p.Pro1293=) c.1653G>C (p.Pro551=) n.2498G>C n.2525G>C c.888G>C (p.Pro296=) c.9033G>C (p.Pro3011=) c.5001G>C (p.Pro1667=) n.2694G>C c.846G>C (p.Pro282=) c.2121G>C (p.Pro707=) c.9021G>C (p.Pro3007=) c.9018G>C (p.Pro3006=) c.9030G>C (p.Pro3010=) c.9009G>C (p.Pro3003=) c.8664G>C (p.Pro2888=) c.5010G>C (p.Pro1670=) c.8904G>C (p.Pro2968=) c.8895G>C (p.Pro2965=) c.8910G>C (p.Pro2970=) c.3207G>C (p.Pro1069=) | |
| X | g.31444532C>T | CA10377935 | DMD | c.3879G>A (p.Pro1293=) c.1653G>A (p.Pro551=) n.2498G>A n.2525G>A c.888G>A (p.Pro296=) c.9033G>A (p.Pro3011=) c.5001G>A (p.Pro1667=) n.2694G>A c.846G>A (p.Pro282=) c.2121G>A (p.Pro707=) c.9021G>A (p.Pro3007=) c.9018G>A (p.Pro3006=) c.9030G>A (p.Pro3010=) c.9009G>A (p.Pro3003=) c.8664G>A (p.Pro2888=) c.5010G>A (p.Pro1670=) c.8904G>A (p.Pro2968=) c.8895G>A (p.Pro2965=) c.8910G>A (p.Pro2970=) c.3207G>A (p.Pro1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444533G>A | CA246864 | DMD | c.3878C>T (p.Pro1293Leu) c.1652C>T (p.Pro551Leu) n.2497C>T n.2524C>T c.887C>T (p.Pro296Leu) c.9032C>T (p.Pro3011Leu) c.5000C>T (p.Pro1667Leu) n.2693C>T c.845C>T (p.Pro282Leu) c.2120C>T (p.Pro707Leu) c.9020C>T (p.Pro3007Leu) c.9017C>T (p.Pro3006Leu) c.9029C>T (p.Pro3010Leu) c.9008C>T (p.Pro3003Leu) c.8663C>T (p.Pro2888Leu) c.5009C>T (p.Pro1670Leu) c.8903C>T (p.Pro2968Leu) c.8894C>T (p.Pro2965Leu) c.8909C>T (p.Pro2970Leu) c.3206C>T (p.Pro1069Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444533G>C | CA412655140 | DMD | c.3878C>G (p.Pro1293Arg) c.1652C>G (p.Pro551Arg) n.2497C>G n.2524C>G c.887C>G (p.Pro296Arg) c.9032C>G (p.Pro3011Arg) c.5000C>G (p.Pro1667Arg) n.2693C>G c.845C>G (p.Pro282Arg) c.2120C>G (p.Pro707Arg) c.9020C>G (p.Pro3007Arg) c.9017C>G (p.Pro3006Arg) c.9029C>G (p.Pro3010Arg) c.9008C>G (p.Pro3003Arg) c.8663C>G (p.Pro2888Arg) c.5009C>G (p.Pro1670Arg) c.8903C>G (p.Pro2968Arg) c.8894C>G (p.Pro2965Arg) c.8909C>G (p.Pro2970Arg) c.3206C>G (p.Pro1069Arg) | gnomAD v4 |
| X | g.31444533G= | CA2422434048 | DMD | c.3878C= (p.Pro1293=) c.1652C= (p.Pro551=) n.2497C= n.2524C= c.887C= (p.Pro296=) c.9032C= (p.Pro3011=) c.5000C= (p.Pro1667=) n.2693C= c.845C= (p.Pro282=) c.2120C= (p.Pro707=) c.9020C= (p.Pro3007=) c.9017C= (p.Pro3006=) c.9029C= (p.Pro3010=) c.9008C= (p.Pro3003=) c.8663C= (p.Pro2888=) c.5009C= (p.Pro1670=) c.8903C= (p.Pro2968=) c.8894C= (p.Pro2965=) c.8909C= (p.Pro2970=) c.3206C= (p.Pro1069=) | |
| X | g.31444533G>T | CA412655141 | DMD | c.3878C>A (p.Pro1293Gln) c.1652C>A (p.Pro551Gln) n.2497C>A n.2524C>A c.887C>A (p.Pro296Gln) c.9032C>A (p.Pro3011Gln) c.5000C>A (p.Pro1667Gln) n.2693C>A c.845C>A (p.Pro282Gln) c.2120C>A (p.Pro707Gln) c.9020C>A (p.Pro3007Gln) c.9017C>A (p.Pro3006Gln) c.9029C>A (p.Pro3010Gln) c.9008C>A (p.Pro3003Gln) c.8663C>A (p.Pro2888Gln) c.5009C>A (p.Pro1670Gln) c.8903C>A (p.Pro2968Gln) c.8894C>A (p.Pro2965Gln) c.8909C>A (p.Pro2970Gln) c.3206C>A (p.Pro1069Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444534G>A | CA328429788 | DMD | c.3877C>T (p.Pro1293Ser) c.1651C>T (p.Pro551Ser) n.2496C>T n.2523C>T c.886C>T (p.Pro296Ser) c.9031C>T (p.Pro3011Ser) c.4999C>T (p.Pro1667Ser) n.2692C>T c.844C>T (p.Pro282Ser) c.2119C>T (p.Pro707Ser) c.9019C>T (p.Pro3007Ser) c.9016C>T (p.Pro3006Ser) c.9028C>T (p.Pro3010Ser) c.9007C>T (p.Pro3003Ser) c.8662C>T (p.Pro2888Ser) c.5008C>T (p.Pro1670Ser) c.8902C>T (p.Pro2968Ser) c.8893C>T (p.Pro2965Ser) c.8908C>T (p.Pro2970Ser) c.3205C>T (p.Pro1069Ser) | dbSNP |
| X | g.31444534G>C | CA412655142 | DMD | c.3877C>G (p.Pro1293Ala) c.1651C>G (p.Pro551Ala) n.2496C>G n.2523C>G c.886C>G (p.Pro296Ala) c.9031C>G (p.Pro3011Ala) c.4999C>G (p.Pro1667Ala) n.2692C>G c.844C>G (p.Pro282Ala) c.2119C>G (p.Pro707Ala) c.9019C>G (p.Pro3007Ala) c.9016C>G (p.Pro3006Ala) c.9028C>G (p.Pro3010Ala) c.9007C>G (p.Pro3003Ala) c.8662C>G (p.Pro2888Ala) c.5008C>G (p.Pro1670Ala) c.8902C>G (p.Pro2968Ala) c.8893C>G (p.Pro2965Ala) c.8908C>G (p.Pro2970Ala) c.3205C>G (p.Pro1069Ala) | |
| X | g.31444534G= | CA2422434049 | DMD | c.3877C= (p.Pro1293=) c.1651C= (p.Pro551=) n.2496C= n.2523C= c.886C= (p.Pro296=) c.9031C= (p.Pro3011=) c.4999C= (p.Pro1667=) n.2692C= c.844C= (p.Pro282=) c.2119C= (p.Pro707=) c.9019C= (p.Pro3007=) c.9016C= (p.Pro3006=) c.9028C= (p.Pro3010=) c.9007C= (p.Pro3003=) c.8662C= (p.Pro2888=) c.5008C= (p.Pro1670=) c.8902C= (p.Pro2968=) c.8893C= (p.Pro2965=) c.8908C= (p.Pro2970=) c.3205C= (p.Pro1069=) | |
| X | g.31444534G>T | CA328429789 | DMD | c.3877C>A (p.Pro1293Thr) c.1651C>A (p.Pro551Thr) n.2496C>A n.2523C>A c.886C>A (p.Pro296Thr) c.9031C>A (p.Pro3011Thr) c.4999C>A (p.Pro1667Thr) n.2692C>A c.844C>A (p.Pro282Thr) c.2119C>A (p.Pro707Thr) c.9019C>A (p.Pro3007Thr) c.9016C>A (p.Pro3006Thr) c.9028C>A (p.Pro3010Thr) c.9007C>A (p.Pro3003Thr) c.8662C>A (p.Pro2888Thr) c.5008C>A (p.Pro1670Thr) c.8902C>A (p.Pro2968Thr) c.8893C>A (p.Pro2965Thr) c.8908C>A (p.Pro2970Thr) c.3205C>A (p.Pro1069Thr) | dbSNP |
| X | g.31444535T>A | CA515858227 | DMD | c.3876A>T (p.Ser1292=) c.1650A>T (p.Ser550=) n.2495A>T n.2522A>T c.885A>T (p.Ser295=) c.9030A>T (p.Ser3010=) c.4998A>T (p.Ser1666=) n.2691A>T c.843A>T (p.Ser281=) c.2118A>T (p.Ser706=) c.9018A>T (p.Ser3006=) c.9015A>T (p.Ser3005=) c.9027A>T (p.Ser3009=) c.9006A>T (p.Ser3002=) c.8661A>T (p.Ser2887=) c.5007A>T (p.Ser1669=) c.8901A>T (p.Ser2967=) c.8892A>T (p.Ser2964=) c.8907A>T (p.Ser2969=) c.3204A>T (p.Ser1068=) | ClinVar |
| X | g.31444535T>C | CA515858228 | DMD | c.3876A>G (p.Ser1292=) c.1650A>G (p.Ser550=) n.2495A>G n.2522A>G c.885A>G (p.Ser295=) c.9030A>G (p.Ser3010=) c.4998A>G (p.Ser1666=) n.2691A>G c.843A>G (p.Ser281=) c.2118A>G (p.Ser706=) c.9018A>G (p.Ser3006=) c.9015A>G (p.Ser3005=) c.9027A>G (p.Ser3009=) c.9006A>G (p.Ser3002=) c.8661A>G (p.Ser2887=) c.5007A>G (p.Ser1669=) c.8901A>G (p.Ser2967=) c.8892A>G (p.Ser2964=) c.8907A>G (p.Ser2969=) c.3204A>G (p.Ser1068=) | ClinVar |
| X | g.31444535T>G | CA515858229 | DMD | c.3876A>C (p.Ser1292=) c.1650A>C (p.Ser550=) n.2495A>C n.2522A>C c.885A>C (p.Ser295=) c.9030A>C (p.Ser3010=) c.4998A>C (p.Ser1666=) n.2691A>C c.843A>C (p.Ser281=) c.2118A>C (p.Ser706=) c.9018A>C (p.Ser3006=) c.9015A>C (p.Ser3005=) c.9027A>C (p.Ser3009=) c.9006A>C (p.Ser3002=) c.8661A>C (p.Ser2887=) c.5007A>C (p.Ser1669=) c.8901A>C (p.Ser2967=) c.8892A>C (p.Ser2964=) c.8907A>C (p.Ser2969=) c.3204A>C (p.Ser1068=) | |
| X | g.31444536G>A | CA412655143 | DMD | c.3875C>T (p.Ser1292Leu) c.1649C>T (p.Ser550Leu) n.2494C>T n.2521C>T c.884C>T (p.Ser295Leu) c.9029C>T (p.Ser3010Leu) c.4997C>T (p.Ser1666Leu) n.2690C>T c.842C>T (p.Ser281Leu) c.2117C>T (p.Ser706Leu) c.9017C>T (p.Ser3006Leu) c.9014C>T (p.Ser3005Leu) c.9026C>T (p.Ser3009Leu) c.9005C>T (p.Ser3002Leu) c.8660C>T (p.Ser2887Leu) c.5006C>T (p.Ser1669Leu) c.8900C>T (p.Ser2967Leu) c.8891C>T (p.Ser2964Leu) c.8906C>T (p.Ser2969Leu) c.3203C>T (p.Ser1068Leu) | gnomAD v4 |
| X | g.31444536G>C | CA412655145 | DMD | c.3875C>G (p.Ser1292Ter) c.1649C>G (p.Ser550Ter) n.2494C>G n.2521C>G c.884C>G (p.Ser295Ter) c.9029C>G (p.Ser3010Ter) c.4997C>G (p.Ser1666Ter) n.2690C>G c.842C>G (p.Ser281Ter) c.2117C>G (p.Ser706Ter) c.9017C>G (p.Ser3006Ter) c.9014C>G (p.Ser3005Ter) c.9026C>G (p.Ser3009Ter) c.9005C>G (p.Ser3002Ter) c.8660C>G (p.Ser2887Ter) c.5006C>G (p.Ser1669Ter) c.8900C>G (p.Ser2967Ter) c.8891C>G (p.Ser2964Ter) c.8906C>G (p.Ser2969Ter) c.3203C>G (p.Ser1068Ter) | dbSNP |
| X | g.31444536G>T | CA412655144 | DMD | c.3875C>A (p.Ser1292Ter) c.1649C>A (p.Ser550Ter) n.2494C>A n.2521C>A c.884C>A (p.Ser295Ter) c.9029C>A (p.Ser3010Ter) c.4997C>A (p.Ser1666Ter) n.2690C>A c.842C>A (p.Ser281Ter) c.2117C>A (p.Ser706Ter) c.9017C>A (p.Ser3006Ter) c.9014C>A (p.Ser3005Ter) c.9026C>A (p.Ser3009Ter) c.9005C>A (p.Ser3002Ter) c.8660C>A (p.Ser2887Ter) c.5006C>A (p.Ser1669Ter) c.8900C>A (p.Ser2967Ter) c.8891C>A (p.Ser2964Ter) c.8906C>A (p.Ser2969Ter) c.3203C>A (p.Ser1068Ter) | |
| X | g.31444537A>C | CA412655146 | DMD | c.3874T>G (p.Ser1292Ala) c.1648T>G (p.Ser550Ala) n.2493T>G n.2520T>G c.883T>G (p.Ser295Ala) c.9028T>G (p.Ser3010Ala) c.4996T>G (p.Ser1666Ala) n.2689T>G c.841T>G (p.Ser281Ala) c.2116T>G (p.Ser706Ala) c.9016T>G (p.Ser3006Ala) c.9013T>G (p.Ser3005Ala) c.9025T>G (p.Ser3009Ala) c.9004T>G (p.Ser3002Ala) c.8659T>G (p.Ser2887Ala) c.5005T>G (p.Ser1669Ala) c.8899T>G (p.Ser2967Ala) c.8890T>G (p.Ser2964Ala) c.8905T>G (p.Ser2969Ala) c.3202T>G (p.Ser1068Ala) | |
| X | g.31444537A>G | CA412655148 | DMD | c.3874T>C (p.Ser1292Pro) c.1648T>C (p.Ser550Pro) n.2493T>C n.2520T>C c.883T>C (p.Ser295Pro) c.9028T>C (p.Ser3010Pro) c.4996T>C (p.Ser1666Pro) n.2689T>C c.841T>C (p.Ser281Pro) c.2116T>C (p.Ser706Pro) c.9016T>C (p.Ser3006Pro) c.9013T>C (p.Ser3005Pro) c.9025T>C (p.Ser3009Pro) c.9004T>C (p.Ser3002Pro) c.8659T>C (p.Ser2887Pro) c.5005T>C (p.Ser1669Pro) c.8899T>C (p.Ser2967Pro) c.8890T>C (p.Ser2964Pro) c.8905T>C (p.Ser2969Pro) c.3202T>C (p.Ser1068Pro) | |
| X | g.31444537A>T | CA412655147 | DMD | c.3874T>A (p.Ser1292Thr) c.1648T>A (p.Ser550Thr) n.2493T>A n.2520T>A c.883T>A (p.Ser295Thr) c.9028T>A (p.Ser3010Thr) c.4996T>A (p.Ser1666Thr) n.2689T>A c.841T>A (p.Ser281Thr) c.2116T>A (p.Ser706Thr) c.9016T>A (p.Ser3006Thr) c.9013T>A (p.Ser3005Thr) c.9025T>A (p.Ser3009Thr) c.9004T>A (p.Ser3002Thr) c.8659T>A (p.Ser2887Thr) c.5005T>A (p.Ser1669Thr) c.8899T>A (p.Ser2967Thr) c.8890T>A (p.Ser2964Thr) c.8905T>A (p.Ser2969Thr) c.3202T>A (p.Ser1068Thr) | |
| X | g.31444538G>A | CA515858230 | DMD | c.3873C>T (p.Leu1291=) c.1647C>T (p.Leu549=) n.2492C>T n.2519C>T c.882C>T (p.Leu294=) c.9027C>T (p.Leu3009=) c.4995C>T (p.Leu1665=) n.2688C>T c.840C>T (p.Leu280=) c.2115C>T (p.Leu705=) c.9015C>T (p.Leu3005=) c.9012C>T (p.Leu3004=) c.9024C>T (p.Leu3008=) c.9003C>T (p.Leu3001=) c.8658C>T (p.Leu2886=) c.5004C>T (p.Leu1668=) c.8898C>T (p.Leu2966=) c.8889C>T (p.Leu2963=) c.8904C>T (p.Leu2968=) c.3201C>T (p.Leu1067=) | |
| X | g.31444538G>C | CA515858231 | DMD | c.3873C>G (p.Leu1291=) c.1647C>G (p.Leu549=) n.2492C>G n.2519C>G c.882C>G (p.Leu294=) c.9027C>G (p.Leu3009=) c.4995C>G (p.Leu1665=) n.2688C>G c.840C>G (p.Leu280=) c.2115C>G (p.Leu705=) c.9015C>G (p.Leu3005=) c.9012C>G (p.Leu3004=) c.9024C>G (p.Leu3008=) c.9003C>G (p.Leu3001=) c.8658C>G (p.Leu2886=) c.5004C>G (p.Leu1668=) c.8898C>G (p.Leu2966=) c.8889C>G (p.Leu2963=) c.8904C>G (p.Leu2968=) c.3201C>G (p.Leu1067=) | |
| X | g.31444538G>T | CA515858232 | DMD | c.3873C>A (p.Leu1291=) c.1647C>A (p.Leu549=) n.2492C>A n.2519C>A c.882C>A (p.Leu294=) c.9027C>A (p.Leu3009=) c.4995C>A (p.Leu1665=) n.2688C>A c.840C>A (p.Leu280=) c.2115C>A (p.Leu705=) c.9015C>A (p.Leu3005=) c.9012C>A (p.Leu3004=) c.9024C>A (p.Leu3008=) c.9003C>A (p.Leu3001=) c.8658C>A (p.Leu2886=) c.5004C>A (p.Leu1668=) c.8898C>A (p.Leu2966=) c.8889C>A (p.Leu2963=) c.8904C>A (p.Leu2968=) c.3201C>A (p.Leu1067=) | |
| X | g.31444539A>C | CA412655149 | DMD | c.3872T>G (p.Leu1291Arg) c.1646T>G (p.Leu549Arg) n.2491T>G n.2518T>G c.881T>G (p.Leu294Arg) c.9026T>G (p.Leu3009Arg) c.4994T>G (p.Leu1665Arg) n.2687T>G c.839T>G (p.Leu280Arg) c.2114T>G (p.Leu705Arg) c.9014T>G (p.Leu3005Arg) c.9011T>G (p.Leu3004Arg) c.9023T>G (p.Leu3008Arg) c.9002T>G (p.Leu3001Arg) c.8657T>G (p.Leu2886Arg) c.5003T>G (p.Leu1668Arg) c.8897T>G (p.Leu2966Arg) c.8888T>G (p.Leu2963Arg) c.8903T>G (p.Leu2968Arg) c.3200T>G (p.Leu1067Arg) | |
| X | g.31444539A>G | CA412655150 | DMD | c.3872T>C (p.Leu1291Pro) c.1646T>C (p.Leu549Pro) n.2491T>C n.2518T>C c.881T>C (p.Leu294Pro) c.9026T>C (p.Leu3009Pro) c.4994T>C (p.Leu1665Pro) n.2687T>C c.839T>C (p.Leu280Pro) c.2114T>C (p.Leu705Pro) c.9014T>C (p.Leu3005Pro) c.9011T>C (p.Leu3004Pro) c.9023T>C (p.Leu3008Pro) c.9002T>C (p.Leu3001Pro) c.8657T>C (p.Leu2886Pro) c.5003T>C (p.Leu1668Pro) c.8897T>C (p.Leu2966Pro) c.8888T>C (p.Leu2963Pro) c.8903T>C (p.Leu2968Pro) c.3200T>C (p.Leu1067Pro) | |
| X | g.31444539A>T | CA412655151 | DMD | c.3872T>A (p.Leu1291His) c.1646T>A (p.Leu549His) n.2491T>A n.2518T>A c.881T>A (p.Leu294His) c.9026T>A (p.Leu3009His) c.4994T>A (p.Leu1665His) n.2687T>A c.839T>A (p.Leu280His) c.2114T>A (p.Leu705His) c.9014T>A (p.Leu3005His) c.9011T>A (p.Leu3004His) c.9023T>A (p.Leu3008His) c.9002T>A (p.Leu3001His) c.8657T>A (p.Leu2886His) c.5003T>A (p.Leu1668His) c.8897T>A (p.Leu2966His) c.8888T>A (p.Leu2963His) c.8903T>A (p.Leu2968His) c.3200T>A (p.Leu1067His) | gnomAD v4 |
| X | g.31444540G>A | CA412655152 | DMD | c.3871C>T (p.Leu1291Phe) c.1645C>T (p.Leu549Phe) n.2490C>T n.2517C>T c.880C>T (p.Leu294Phe) c.9025C>T (p.Leu3009Phe) c.4993C>T (p.Leu1665Phe) n.2686C>T c.838C>T (p.Leu280Phe) c.2113C>T (p.Leu705Phe) c.9013C>T (p.Leu3005Phe) c.9010C>T (p.Leu3004Phe) c.9022C>T (p.Leu3008Phe) c.9001C>T (p.Leu3001Phe) c.8656C>T (p.Leu2886Phe) c.5002C>T (p.Leu1668Phe) c.8896C>T (p.Leu2966Phe) c.8887C>T (p.Leu2963Phe) c.8902C>T (p.Leu2968Phe) c.3199C>T (p.Leu1067Phe) | |
| X | g.31444540G>C | CA412655153 | DMD | c.3871C>G (p.Leu1291Val) c.1645C>G (p.Leu549Val) n.2490C>G n.2517C>G c.880C>G (p.Leu294Val) c.9025C>G (p.Leu3009Val) c.4993C>G (p.Leu1665Val) n.2686C>G c.838C>G (p.Leu280Val) c.2113C>G (p.Leu705Val) c.9013C>G (p.Leu3005Val) c.9010C>G (p.Leu3004Val) c.9022C>G (p.Leu3008Val) c.9001C>G (p.Leu3001Val) c.8656C>G (p.Leu2886Val) c.5002C>G (p.Leu1668Val) c.8896C>G (p.Leu2966Val) c.8887C>G (p.Leu2963Val) c.8902C>G (p.Leu2968Val) c.3199C>G (p.Leu1067Val) | |
| X | g.31444540G>T | CA412655154 | DMD | c.3871C>A (p.Leu1291Ile) c.1645C>A (p.Leu549Ile) n.2490C>A n.2517C>A c.880C>A (p.Leu294Ile) c.9025C>A (p.Leu3009Ile) c.4993C>A (p.Leu1665Ile) n.2686C>A c.838C>A (p.Leu280Ile) c.2113C>A (p.Leu705Ile) c.9013C>A (p.Leu3005Ile) c.9010C>A (p.Leu3004Ile) c.9022C>A (p.Leu3008Ile) c.9001C>A (p.Leu3001Ile) c.8656C>A (p.Leu2886Ile) c.5002C>A (p.Leu1668Ile) c.8896C>A (p.Leu2966Ile) c.8887C>A (p.Leu2963Ile) c.8902C>A (p.Leu2968Ile) c.3199C>A (p.Leu1067Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.31444541C>A | CA412655155 | DMD | c.3870G>T (p.Gln1290His) c.1644G>T (p.Gln548His) n.2489G>T n.2516G>T c.879G>T (p.Gln293His) c.9024G>T (p.Gln3008His) c.4992G>T (p.Gln1664His) n.2685G>T c.837G>T (p.Gln279His) c.2112G>T (p.Gln704His) c.9012G>T (p.Gln3004His) c.9009G>T (p.Gln3003His) c.9021G>T (p.Gln3007His) c.9000G>T (p.Gln3000His) c.8655G>T (p.Gln2885His) c.5001G>T (p.Gln1667His) c.8895G>T (p.Gln2965His) c.8886G>T (p.Gln2962His) c.8901G>T (p.Gln2967His) c.3198G>T (p.Gln1066His) | |
| X | g.31444541C>G | CA412655156 | DMD | c.3870G>C (p.Gln1290His) c.1644G>C (p.Gln548His) n.2489G>C n.2516G>C c.879G>C (p.Gln293His) c.9024G>C (p.Gln3008His) c.4992G>C (p.Gln1664His) n.2685G>C c.837G>C (p.Gln279His) c.2112G>C (p.Gln704His) c.9012G>C (p.Gln3004His) c.9009G>C (p.Gln3003His) c.9021G>C (p.Gln3007His) c.9000G>C (p.Gln3000His) c.8655G>C (p.Gln2885His) c.5001G>C (p.Gln1667His) c.8895G>C (p.Gln2965His) c.8886G>C (p.Gln2962His) c.8901G>C (p.Gln2967His) c.3198G>C (p.Gln1066His) | |
| X | g.31444541C>T | CA515858235 | DMD | c.3870G>A (p.Gln1290=) c.1644G>A (p.Gln548=) n.2489G>A n.2516G>A c.879G>A (p.Gln293=) c.9024G>A (p.Gln3008=) c.4992G>A (p.Gln1664=) n.2685G>A c.837G>A (p.Gln279=) c.2112G>A (p.Gln704=) c.9012G>A (p.Gln3004=) c.9009G>A (p.Gln3003=) c.9021G>A (p.Gln3007=) c.9000G>A (p.Gln3000=) c.8655G>A (p.Gln2885=) c.5001G>A (p.Gln1667=) c.8895G>A (p.Gln2965=) c.8886G>A (p.Gln2962=) c.8901G>A (p.Gln2967=) c.3198G>A (p.Gln1066=) | gnomAD v4 |
| X | g.31444542T>A | CA412655157 | DMD | c.3869A>T (p.Gln1290Leu) c.1643A>T (p.Gln548Leu) n.2488A>T n.2515A>T c.878A>T (p.Gln293Leu) c.9023A>T (p.Gln3008Leu) c.4991A>T (p.Gln1664Leu) n.2684A>T c.836A>T (p.Gln279Leu) c.2111A>T (p.Gln704Leu) c.9011A>T (p.Gln3004Leu) c.9008A>T (p.Gln3003Leu) c.9020A>T (p.Gln3007Leu) c.8999A>T (p.Gln3000Leu) c.8654A>T (p.Gln2885Leu) c.5000A>T (p.Gln1667Leu) c.8894A>T (p.Gln2965Leu) c.8885A>T (p.Gln2962Leu) c.8900A>T (p.Gln2967Leu) c.3197A>T (p.Gln1066Leu) | |
| X | g.31444542T>C | CA412655158 | DMD | c.3869A>G (p.Gln1290Arg) c.1643A>G (p.Gln548Arg) n.2488A>G n.2515A>G c.878A>G (p.Gln293Arg) c.9023A>G (p.Gln3008Arg) c.4991A>G (p.Gln1664Arg) n.2684A>G c.836A>G (p.Gln279Arg) c.2111A>G (p.Gln704Arg) c.9011A>G (p.Gln3004Arg) c.9008A>G (p.Gln3003Arg) c.9020A>G (p.Gln3007Arg) c.8999A>G (p.Gln3000Arg) c.8654A>G (p.Gln2885Arg) c.5000A>G (p.Gln1667Arg) c.8894A>G (p.Gln2965Arg) c.8885A>G (p.Gln2962Arg) c.8900A>G (p.Gln2967Arg) c.3197A>G (p.Gln1066Arg) | gnomAD v4 |
| X | g.31444542T>G | CA412655159 | DMD | c.3869A>C (p.Gln1290Pro) c.1643A>C (p.Gln548Pro) n.2488A>C n.2515A>C c.878A>C (p.Gln293Pro) c.9023A>C (p.Gln3008Pro) c.4991A>C (p.Gln1664Pro) n.2684A>C c.836A>C (p.Gln279Pro) c.2111A>C (p.Gln704Pro) c.9011A>C (p.Gln3004Pro) c.9008A>C (p.Gln3003Pro) c.9020A>C (p.Gln3007Pro) c.8999A>C (p.Gln3000Pro) c.8654A>C (p.Gln2885Pro) c.5000A>C (p.Gln1667Pro) c.8894A>C (p.Gln2965Pro) c.8885A>C (p.Gln2962Pro) c.8900A>C (p.Gln2967Pro) c.3197A>C (p.Gln1066Pro) |