| 4 | g.119185879del | CA2578177041 | MYOZ2 | c.561-87del (n.561-87del)
| gnomAD v4 |
| 4 | g.119185879A= | CA1488821416 | MYOZ2 | c.561-87A= (n.561-87A=)
| |
| 4 | g.119185879A>G | CA104974200 | MYOZ2 | c.561-87A>G (n.561-87A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185881C>A | CA2671884560 | MYOZ2 | c.561-85C>A (n.561-85C>A)
| gnomAD v4 |
| 4 | g.119185882A= | CA1488821417 | MYOZ2 | c.561-84A= (n.561-84A=)
| |
| 4 | g.119185882A>C | CA786093985 | MYOZ2 | c.561-84A>C (n.561-84A>C)
| dbSNP |
| 4 | g.119185882A>T | CA104974201 | MYOZ2 | c.561-84A>T (n.561-84A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185883T>C | CA1488821419 | MYOZ2 | c.561-83T>C (n.561-83T>C)
| dbSNP |
| 4 | g.119185883T= | CA1488821418 | MYOZ2 | c.561-83T= (n.561-83T=)
| |
| 4 | g.119185884G>A | CA1488821421 | MYOZ2 | c.561-82G>A (n.561-82G>A)
| dbSNP gnomAD v4 |
| 4 | g.119185884G= | CA1488821420 | MYOZ2 | c.561-82G= (n.561-82G=)
| |
| 4 | g.119185885C>A | CA2578177042 | MYOZ2 | c.561-81C>A (n.561-81C>A)
| gnomAD v4 |
| 4 | g.119185886C>A | CA2671884561 | MYOZ2 | c.561-80C>A (n.561-80C>A)
| gnomAD v4 |
| 4 | g.119185888_119185889delinsAT | CA1488821422 | MYOZ2 | c.561-78_561-77delinsAT (n.561-78_561-77delinsAT)
| |
| 4 | g.119185889del | CA1067274777 | MYOZ2 | c.561-77del (n.561-77del)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185889T>C | CA2578177043 | MYOZ2 | c.561-77T>C (n.561-77T>C)
| gnomAD v4 |
| 4 | g.119185892A= | CA1488821423 | MYOZ2 | c.561-74A= (n.561-74A=)
| |
| 4 | g.119185896_119185913dup | CA554379444 | MYOZ2 | c.561-70_561-53dup (n.561-70_561-53dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185897T>A | CA2671884562 | MYOZ2 | c.561-69T>A (n.561-69T>A)
| gnomAD v4 |
| 4 | g.119185897T>C | CA1067274783 | MYOZ2 | c.561-69T>C (n.561-69T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185897T= | CA1488821424 | MYOZ2 | c.561-69T= (n.561-69T=)
| |
| 4 | g.119185898G>A | CA2513447561 | MYOZ2 | c.561-68G>A (n.561-68G>A)
| |
| 4 | g.119185900A= | CA1488821425 | MYOZ2 | c.561-66A= (n.561-66A=)
| |
| 4 | g.119185900A>C | CA1488821426 | MYOZ2 | c.561-66A>C (n.561-66A>C)
| dbSNP |
| 4 | g.119185901A>T | CA2671884563 | MYOZ2 | c.561-65A>T (n.561-65A>T)
| gnomAD v4 |
| 4 | g.119185902T>A | CA1488821428 | MYOZ2 | c.561-64T>A (n.561-64T>A)
| dbSNP gnomAD v4 |
| 4 | g.119185902T>G | CA2671884564 | MYOZ2 | c.561-64T>G (n.561-64T>G)
| gnomAD v4 |
| 4 | g.119185902T= | CA1488821427 | MYOZ2 | c.561-64T= (n.561-64T=)
| |
| 4 | g.119185903T>A | CA2671884565 | MYOZ2 | c.561-63T>A (n.561-63T>A)
| gnomAD v4 |
| 4 | g.119185904G>T | CA1067274786 | MYOZ2 | c.561-62G>T (n.561-62G>T)
| gnomAD v3 gnomAD v4 |
| 4 | g.119185906T>C | CA1488821430 | MYOZ2 | c.561-60T>C (n.561-60T>C)
| dbSNP |
| 4 | g.119185906T= | CA1488821429 | MYOZ2 | c.561-60T= (n.561-60T=)
| |
| 4 | g.119185907T>C | CA786093987 | MYOZ2 | c.561-59T>C (n.561-59T>C)
| dbSNP |
| 4 | g.119185907T>G | CA2763274156 | MYOZ2 | c.561-59T>G (n.561-59T>G)
| |
| 4 | g.119185907T= | CA1488821431 | MYOZ2 | c.561-59T= (n.561-59T=)
| |
| 4 | g.119185909C>A | CA2671884566 | MYOZ2 | c.561-57C>A (n.561-57C>A)
| gnomAD v4 |
| 4 | g.119185909C= | CA1488821432 | MYOZ2 | c.561-57C= (n.561-57C=)
| |
| 4 | g.119185909C>G | CA2763274157 | MYOZ2 | c.561-57C>G (n.561-57C>G)
| |
| 4 | g.119185909C>T | CA104974202 | MYOZ2 | c.561-57C>T (n.561-57C>T)
| dbSNP gnomAD v4 |
| 4 | g.119185911A= | CA1488821433 | MYOZ2 | c.561-55A= (n.561-55A=)
| |
| 4 | g.119185911A>T | CA2578177044 | MYOZ2 | c.561-55A>T (n.561-55A>T)
| gnomAD v4 |
| 4 | g.119185912T>C | CA2671884567 | MYOZ2 | c.561-54T>C (n.561-54T>C)
| gnomAD v4 |
| 4 | g.119185915dup | CA1488821434 | MYOZ2 | c.561-51dup (n.561-51dup)
| dbSNP |
| 4 | g.119185916G>A | CA554379446 | MYOZ2 | c.561-50G>A (n.561-50G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.119185916G= | CA1488821435 | MYOZ2 | c.561-50G= (n.561-50G=)
| |
| 4 | g.119185916G>T | CA2671884568 | MYOZ2 | c.561-50G>T (n.561-50G>T)
| gnomAD v4 |
| 4 | g.119185917A>C | CA2671884569 | MYOZ2 | c.561-49A>C (n.561-49A>C)
| gnomAD v4 |
| 4 | g.119185918C>A | CA1067274788 | MYOZ2 | c.561-48C>A (n.561-48C>A)
| gnomAD v3 gnomAD v4 |
| 4 | g.119185918C>T | CA2671884570 | MYOZ2 | c.561-48C>T (n.561-48C>T)
| gnomAD v4 |
| 4 | g.119185921A= | CA1488821436 | MYOZ2 | c.561-45A= (n.561-45A=)
| |
| 4 | g.119185921A>G | CA3058670 | MYOZ2 | c.561-45A>G (n.561-45A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119185923T>G | CA2671884571 | MYOZ2 | c.561-43T>G (n.561-43T>G)
| gnomAD v4 |
| 4 | g.119185924T>G | CA2578177045 | MYOZ2 | c.561-42T>G (n.561-42T>G)
| |
| 4 | g.119185925G>T | CA2671884572 | MYOZ2 | c.561-41G>T (n.561-41G>T)
| gnomAD v4 |
| 4 | g.119185929A>G | CA2671884573 | MYOZ2 | c.561-37A>G (n.561-37A>G)
| gnomAD v4 |
| 4 | g.119185932A>T | CA2671884574 | MYOZ2 | c.561-34A>T (n.561-34A>T)
| gnomAD v4 |
| 4 | g.119185934T>A | CA3058671 | MYOZ2 | c.561-32T>A (n.561-32T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185934T= | CA1488821437 | MYOZ2 | c.561-32T= (n.561-32T=)
| |
| 4 | g.119185935T>G | CA2671884575 | MYOZ2 | c.561-31T>G (n.561-31T>G)
| gnomAD v4 |
| 4 | g.119185936G>A | CA2671884576 | MYOZ2 | c.561-30G>A (n.561-30G>A)
| gnomAD v4 |
| 4 | g.119185939_119185941delinsATC | CA1488821438 | MYOZ2 | c.561-27_561-25delinsATC (n.561-27_561-25delinsATC)
| |
| 4 | g.119185941_119185942del | CA3058672 | MYOZ2 | c.561-25_561-24del (n.561-25_561-24del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185941C>A | CA2578177046 | MYOZ2 | c.561-25C>A (n.561-25C>A)
| |
| 4 | g.119185941C= | CA1488821439 | MYOZ2 | c.561-25C= (n.561-25C=)
| |
| 4 | g.119185941C>G | CA3058673 | MYOZ2 | c.561-25C>G (n.561-25C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185942T= | CA1488821441 | MYOZ2 | c.561-24T= (n.561-24T=)
| |
| 4 | g.119185942_119185943delinsTG | CA1488821440 | MYOZ2 | c.561-24_561-23delinsTG (n.561-24_561-23delinsTG)
| |
| 4 | g.119185943del | CA3058674 | MYOZ2 | c.561-23del (n.561-23del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185943G>A | CA2707158689 | MYOZ2 | c.561-23G>A (n.561-23G>A)
| dbSNP |
| 4 | g.119185943G= | CA1488821443 | MYOZ2 | c.561-23G= (n.561-23G=)
| |
| 4 | g.119185943G>T | CA2671884577 | MYOZ2 | c.561-23G>T (n.561-23G>T)
| gnomAD v4 |
| 4 | g.119185943dup | CA3058675 | MYOZ2 | c.561-23dup (n.561-23dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185943_119185947delinsGTTTT | CA1488821442 | MYOZ2 | c.561-23_561-19delinsGTTTT (n.561-23_561-19delinsGTTTT)
| |
| 4 | g.119185943_119185944insC | CA554379459 | MYOZ2 | c.561-23_561-22insC (n.561-23_561-22insC)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185944T>C | CA786094014 | MYOZ2 | c.561-22T>C (n.561-22T>C)
| dbSNP |
| 4 | g.119185944T>G | CA2578177047 | MYOZ2 | c.561-22T>G (n.561-22T>G)
| gnomAD v4 |
| 4 | g.119185944T= | CA1488821444 | MYOZ2 | c.561-22T= (n.561-22T=)
| |
| 4 | g.119185953dup | CA282617 | MYOZ2 | c.561-13dup (n.561-13dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185952_119185953dup | CA182747 | MYOZ2 | c.561-14_561-13dup (n.561-14_561-13dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185951_119185953dup | CA3058677 | MYOZ2 | c.561-15_561-13dup (n.561-15_561-13dup)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185950_119185953dup | CA2671884578 | MYOZ2 | c.561-16_561-13dup (n.561-16_561-13dup)
| gnomAD v4 |
| 4 | g.119185945_119185953dup | CA2763274158 | MYOZ2 | c.561-21_561-13dup (n.561-21_561-13dup)
| |
| 4 | g.119185944_119185953dup | CA2763274159 | MYOZ2 | c.561-22_561-13dup (n.561-22_561-13dup)
| |
| 4 | g.119185953del | CA3058676 | MYOZ2 | c.561-13del (n.561-13del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185952_119185953del | CA2671884579 | MYOZ2 | c.561-14_561-13del (n.561-14_561-13del)
| gnomAD v4 |
| 4 | g.119185951_119185953del | CA2763274160 | MYOZ2 | c.561-15_561-13del (n.561-15_561-13del)
| |
| 4 | g.119185950_119185953del | CA1488821445 | MYOZ2 | c.561-16_561-13del (n.561-16_561-13del)
| dbSNP |
| 4 | g.119185944_119185945insC | CA554379469 | MYOZ2 | c.561-22_561-21insC (n.561-22_561-21insC)
| dbSNP gnomAD v2 |
| 4 | g.119185945T>G | CA2671884580 | MYOZ2 | c.561-21T>G (n.561-21T>G)
| gnomAD v4 |
| 4 | g.119185946T>C | CA3058678 | MYOZ2 | c.561-20T>C (n.561-20T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185946T= | CA1488821446 | MYOZ2 | c.561-20T= (n.561-20T=)
| |
| 4 | g.119185948T>C | CA1067274818 | MYOZ2 | c.561-18T>C (n.561-18T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185948T= | CA1488821447 | MYOZ2 | c.561-18T= (n.561-18T=)
| |
| 4 | g.119185948_119185949insC | CA2671884581 | MYOZ2 | c.561-18_561-17insC (n.561-18_561-17insC)
| gnomAD v4 |
| 4 | g.119185949T>A | CA1067274819 | MYOZ2 | c.561-17T>A (n.561-17T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185949T= | CA1488821448 | MYOZ2 | c.561-17T= (n.561-17T=)
| |
| 4 | g.119185953T>A | CA3058680 | MYOZ2 | c.561-13T>A (n.561-13T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185953T= | CA1488821449 | MYOZ2 | c.561-13T= (n.561-13T=)
| |
| 4 | g.119185953_119185955delinsTAA | CA1488821450 | MYOZ2 | c.561-13_561-11delinsTAA (n.561-13_561-11delinsTAA)
| |
| 4 | g.119185953_119185954insTA | CA1067274827 | MYOZ2 | c.561-13_561-12insTA (n.561-13_561-12insTA)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185954A= | CA1488821451 | MYOZ2 | c.561-12A= (n.561-12A=)
| |
| 4 | g.119185954A>T | CA554379473 | MYOZ2 | c.561-12A>T (n.561-12A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185954_119185955del | CA554379476 | MYOZ2 | c.561-12_561-11del (n.561-12_561-11del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185955dup | CA3058679 | MYOZ2 | c.561-11dup (n.561-11dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119185955del | CA2578177048 | MYOZ2 | c.561-11del (n.561-11del)
| |
| 4 | g.119185955A= | CA1488821452 | MYOZ2 | c.561-11A= (n.561-11A=)
| |
| 4 | g.119185955A>G | CA2671884582 | MYOZ2 | c.561-11A>G (n.561-11A>G)
| gnomAD v4 |
| 4 | g.119185955A>T | CA554379477 | MYOZ2 | c.561-11A>T (n.561-11A>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185958_119185959insTTTT | CA554379482 | MYOZ2 | c.561-8_561-7insTTTT (n.561-8_561-7insTTTT)
| gnomAD v2 |
| 4 | g.119185958_119185959insTTTTT | CA554379484 | MYOZ2 | c.561-8_561-7insTTTTT (n.561-8_561-7insTTTTT)
| gnomAD v2 |
| 4 | g.119185958_119185959insTTTTTT | CA554379487 | MYOZ2 | c.561-8_561-7insTTTTTT (n.561-8_561-7insTTTTTT)
| gnomAD v2 |
| 4 | g.119185958_119185959insTTTTTTT | CA1067274837 | MYOZ2 | c.561-8_561-7insTTTTTTT (n.561-8_561-7insTTTTTTT)
| gnomAD v3 gnomAD v4 |
| 4 | g.119185958_119185959insTTTTTTTTTTTTTT | CA554379490 | MYOZ2 | c.561-8_561-7insTTTTTTTTTTTTTT (n.561-8_561-7insTTTTTTTTTTTTTT)
| dbSNP gnomAD v2 |
| 4 | g.119185956_119185958dup | CA554379480 | MYOZ2 | c.561-10_561-8dup (n.561-10_561-8dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185957T>G | CA2603877382 | MYOZ2 | c.561-9T>G (n.561-9T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.119185958_119185959insTTTTTTTTTTGTTG | CA2763274161 | MYOZ2 | c.561-8_561-7insTTTTTTTTTTGTTG (n.561-8_561-7insTTTTTTTTTTGTTG)
| |
| 4 | g.119185959C>A | CA2671884583 | MYOZ2 | c.561-7C>A (n.561-7C>A)
| gnomAD v4 |
| 4 | g.119185959C= | CA1488821453 | MYOZ2 | c.561-7C= (n.561-7C=)
| |
| 4 | g.119185959C>T | CA336860 | MYOZ2 | c.561-7C>T (n.561-7C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.119185959_119185961del | CA2671884585 | MYOZ2 | c.561-7_561-5del (n.561-7_561-5del)
| gnomAD v4 |
| 4 | g.119185960_119185961del | CA2671884584 | MYOZ2 | c.561-6_561-5del (n.561-6_561-5del)
| gnomAD v4 |
| 4 | g.119185960_119185963del | CA2763274162 | MYOZ2 | c.561-6_561-3del (n.561-6_561-3del)
| |
| 4 | g.119185960C>A | CA2671884587 | MYOZ2 | c.561-6C>A (n.561-6C>A)
| gnomAD v4 |
| 4 | g.119185960C= | CA1488821454 | MYOZ2 | c.561-6C= (n.561-6C=)
| |
| 4 | g.119185960C>G | CA2671884586 | MYOZ2 | c.561-6C>G (n.561-6C>G)
| gnomAD v4 |
| 4 | g.119185960C>T | CA3058681 | MYOZ2 | c.561-6C>T (n.561-6C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185960_119185961insTTTTT | CA2740568843 | MYOZ2 | c.561-6_561-5insTTTTT (n.561-6_561-5insTTTTT)
| |
| 4 | g.119185961C>A | CA2671884588 | MYOZ2 | c.561-5C>A (n.561-5C>A)
| gnomAD v4 |
| 4 | g.119185961C>T | CA2582342660 | MYOZ2 | c.561-5C>T (n.561-5C>T)
| ClinVar gnomAD v4 |
| 4 | g.119185962A= | CA1488821455 | MYOZ2 | c.561-4A= (n.561-4A=)
| |
| 4 | g.119185962A>C | CA3058682 | MYOZ2 | c.561-4A>C (n.561-4A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.119185962A>G | CA1488821456 | MYOZ2 | c.561-4A>G (n.561-4A>G)
| dbSNP |
| 4 | g.119185962A>T | CA2763274163 | MYOZ2 | c.561-4A>T (n.561-4A>T)
| |
| 4 | g.119185963C>A | CA2671884589 | MYOZ2 | c.561-3C>A (n.561-3C>A)
| gnomAD v4 |
| 4 | g.119185964A>C | CA358201311 | MYOZ2 | c.561-2A>C (n.561-2A>C)
| |
| 4 | g.119185964A>G | CA358201314 | MYOZ2 | c.561-2A>G (n.561-2A>G)
| |
| 4 | g.119185964A>T | CA358201316 | MYOZ2 | c.561-2A>T (n.561-2A>T)
| COSMIC |
| 4 | g.119185965G>A | CA358201320 | MYOZ2 | c.561-1G>A (n.561-1G>A)
| |
| 4 | g.119185965G>C | CA358201322 | MYOZ2 | c.561-1G>C (n.561-1G>C)
| |
| 4 | g.119185965G>T | CA358201318 | MYOZ2 | c.561-1G>T (n.561-1G>T)
| |
| 4 | g.119185966G>A | CA441001711 | MYOZ2 | c.561G>A (p.Arg187=)
| gnomAD v4 |
| 4 | g.119185966G>C | CA358201323 | MYOZ2 | c.561G>C (p.Arg187Ser)
| |
| 4 | g.119185966G>T | CA358201325 | MYOZ2 | c.561G>T (p.Arg187Ser)
| |
| 4 | g.119185967G>A | CA358201328 | MYOZ2 | c.562G>A (p.Val188Ile)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.119185967G>C | CA358201329 | MYOZ2 | c.562G>C (p.Val188Leu)
| |
| 4 | g.119185967G>T | CA358201331 | MYOZ2 | c.562G>T (p.Val188Phe)
| gnomAD v4 |
| 4 | g.119185968T>A | CA358201336 | MYOZ2 | c.563T>A (p.Val188Asp)
| |
| 4 | g.119185968T>C | CA358201334 | MYOZ2 | c.563T>C (p.Val188Ala)
| |
| 4 | g.119185968T>G | CA358201333 | MYOZ2 | c.563T>G (p.Val188Gly)
| |
| 4 | g.119185969T>A | CA441001726 | MYOZ2 | c.564T>A (p.Val188=)
| |
| 4 | g.119185969T>C | CA441001727 | MYOZ2 | c.564T>C (p.Val188=)
| |
| 4 | g.119185969T>G | CA441001728 | MYOZ2 | c.564T>G (p.Val188=)
| |
| 4 | g.119185970G>A | CA358201338 | MYOZ2 | c.565G>A (p.Ala189Thr)
| |
| 4 | g.119185970G>C | CA358201340 | MYOZ2 | c.565G>C (p.Ala189Pro)
| |
| 4 | g.119185970G>T | CA358201341 | MYOZ2 | c.565G>T (p.Ala189Ser)
| gnomAD v3 gnomAD v4 |
| 4 | g.119185971C>A | CA358201344 | MYOZ2 | c.566C>A (p.Ala189Asp)
| |
| 4 | g.119185971C= | CA1488821457 | MYOZ2 | c.566C= (p.Ala189=)
| |
| 4 | g.119185971C>G | CA358201346 | MYOZ2 | c.566C>G (p.Ala189Gly)
| |
| 4 | g.119185971C>T | CA3058683 | MYOZ2 | c.566C>T (p.Ala189Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.119185972C>A | CA441001742 | MYOZ2 | c.567C>A (p.Ala189=)
| |
| 4 | g.119185972C>G | CA441001746 | MYOZ2 | c.567C>G (p.Ala189=)
| gnomAD v4 |
| 4 | g.119185972C>T | CA441001750 | MYOZ2 | c.567C>T (p.Ala189=)
| |
| 4 | g.119185973A>C | CA358201349 | MYOZ2 | c.568A>C (p.Thr190Pro)
| |
| 4 | g.119185973A>G | CA358201355 | MYOZ2 | c.568A>G (p.Thr190Ala)
| |
| 4 | g.119185973A>T | CA358201351 | MYOZ2 | c.568A>T (p.Thr190Ser)
| |
| 4 | g.119185974C>A | CA358201357 | MYOZ2 | c.569C>A (p.Thr190Lys)
| |
| 4 | g.119185974C= | CA1488821458 | MYOZ2 | c.569C= (p.Thr190=)
| |
| 4 | g.119185974C>G | CA358201359 | MYOZ2 | c.569C>G (p.Thr190Arg)
| |
| 4 | g.119185974C>T | CA358201360 | MYOZ2 | c.569C>T (p.Thr190Ile)
| dbSNP |
| 4 | g.119185975A= | CA1488821459 | MYOZ2 | c.570A= (p.Thr190=)
| |
| 4 | g.119185975A>C | CA441001760 | MYOZ2 | c.570A>C (p.Thr190=)
| |
| 4 | g.119185975A>G | CA441001761 | MYOZ2 | c.570A>G (p.Thr190=)
| gnomAD v4 |
| 4 | g.119185975A>T | CA441001762 | MYOZ2 | c.570A>T (p.Thr190=)
| dbSNP |
| 4 | g.119185976C>A | CA358201362 | MYOZ2 | c.571C>A (p.Pro191Thr)
| |
| 4 | g.119185976C>G | CA358201363 | MYOZ2 | c.571C>G (p.Pro191Ala)
| |
| 4 | g.119185976C>T | CA358201365 | MYOZ2 | c.571C>T (p.Pro191Ser)
| gnomAD v4 |
| 4 | g.119185977C>A | CA358201367 | MYOZ2 | c.572C>A (p.Pro191Gln)
| |
| 4 | g.119185977C>G | CA358201369 | MYOZ2 | c.572C>G (p.Pro191Arg)
| gnomAD v4 |
| 4 | g.119185977C>T | CA358201370 | MYOZ2 | c.572C>T (p.Pro191Leu)
| |
| 4 | g.119185978A= | CA1488821460 | MYOZ2 | c.573A= (p.Pro191=)
| |
| 4 | g.119185978A>C | CA441001769 | MYOZ2 | c.573A>C (p.Pro191=)
| |
| 4 | g.119185978A>G | CA441001774 | MYOZ2 | c.573A>G (p.Pro191=)
| dbSNP |
| 4 | g.119185978A>T | CA441001767 | MYOZ2 | c.573A>T (p.Pro191=)
| |
| 4 | g.119185979T>A | CA358201371 | MYOZ2 | c.574T>A (p.Phe192Ile)
| |
| 4 | g.119185979T>C | CA358201373 | MYOZ2 | c.574T>C (p.Phe192Leu)
| |
| 4 | g.119185979T>G | CA358201375 | MYOZ2 | c.574T>G (p.Phe192Val)
| |
