UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.23422197_23422212del | CA2624234253 | MYH7 | c.3213_3228del (p.Asn1071LysfsTer5) n.3319_3334del | gnomAD v4 |
| 14 | g.23422209G>A | CA036170 | MYH7 | c.3216C>T (p.Asp1072=) n.3322C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422209G>C | CA389045159 | MYH7 | c.3216C>G (p.Asp1072Glu) n.3322C>G | |
| 14 | g.23422209G= | CA2123450537 | MYH7 | c.3216C= (p.Asp1072=) n.3322C= | |
| 14 | g.23422209G>T | CA389045161 | MYH7 | c.3216C>A (p.Asp1072Glu) n.3322C>A | |
| 14 | g.23422210T>A | CA389045167 | MYH7 | c.3215A>T (p.Asp1072Val) n.3321A>T | |
| 14 | g.23422210T>C | CA389045164 | MYH7 | c.3215A>G (p.Asp1072Gly) n.3321A>G | |
| 14 | g.23422210T>G | CA389045166 | MYH7 | c.3215A>C (p.Asp1072Ala) n.3321A>C | |
| 14 | g.23422211C>A | CA389045169 | MYH7 | c.3214G>T (p.Asp1072Tyr) n.3320G>T | |
| 14 | g.23422211C>G | CA389045170 | MYH7 | c.3214G>C (p.Asp1072His) n.3320G>C | |
| 14 | g.23422211C>T | CA389045171 | MYH7 | c.3214G>A (p.Asp1072Asn) n.3320G>A | |
| 14 | g.23422212A= | CA2123450551 | MYH7 | c.3213T= (p.Asn1071=) n.3319T= | |
| 14 | g.23422212A>C | CA389045173 | MYH7 | c.3213T>G (p.Asn1071Lys) n.3319T>G | |
| 14 | g.23422212A>G | CA485621777 | MYH7 | c.3213T>C (p.Asn1071=) n.3319T>C | ClinVar dbSNP |
| 14 | g.23422212A>T | CA389045175 | MYH7 | c.3213T>A (p.Asn1071Lys) n.3319T>A | gnomAD v4 |
| 14 | g.23422213T>A | CA389045177 | MYH7 | c.3212A>T (p.Asn1071Ile) n.3318A>T | |
| 14 | g.23422213T>C | CA389045178 | MYH7 | c.3212A>G (p.Asn1071Ser) n.3318A>G | |
| 14 | g.23422213T>G | CA389045179 | MYH7 | c.3212A>C (p.Asn1071Thr) n.3318A>C | |
| 14 | g.23422214T>A | CA389045181 | MYH7 | c.3211A>T (p.Asn1071Tyr) n.3317A>T | |
| 14 | g.23422214T>C | CA389045182 | MYH7 | c.3211A>G (p.Asn1071Asp) n.3317A>G | |
| 14 | g.23422214T>G | CA389045184 | MYH7 | c.3211A>C (p.Asn1071His) n.3317A>C | |
| 14 | g.23422215C>A | CA389045186 | MYH7 | c.3210G>T (p.Glu1070Asp) n.3316G>T | |
| 14 | g.23422215C= | CA2123450561 | MYH7 | c.3210G= (p.Glu1070=) n.3316G= | |
| 14 | g.23422215C>G | CA389045187 | MYH7 | c.3210G>C (p.Glu1070Asp) n.3316G>C | |
| 14 | g.23422215C>T | CA485621782 | MYH7 | c.3210G>A (p.Glu1070=) n.3316G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422216T>A | CA389045189 | MYH7 | c.3209A>T (p.Glu1070Val) n.3315A>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422216T>C | CA389045192 | MYH7 | c.3209A>G (p.Glu1070Gly) n.3315A>G | |
| 14 | g.23422216T>G | CA389045190 | MYH7 | c.3209A>C (p.Glu1070Ala) n.3315A>C | |
| 14 | g.23422216T= | CA2123450570 | MYH7 | c.3209A= (p.Glu1070=) n.3315A= | |
| 14 | g.23422217C>A | CA389045193 | MYH7 | c.3208G>T (p.Glu1070Ter) n.3314G>T | |
| 14 | g.23422217C= | CA2123450572 | MYH7 | c.3208G= (p.Glu1070=) n.3314G= | |
| 14 | g.23422217C>G | CA389045194 | MYH7 | c.3208G>C (p.Glu1070Gln) n.3314G>C | |
| 14 | g.23422217C>T | CA036158 | MYH7 | c.3208G>A (p.Glu1070Lys) n.3314G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23422218C>A | CA485621786 | MYH7 | c.3207G>T (p.Leu1069=) n.3313G>T | |
| 14 | g.23422218C= | CA2123450575 | MYH7 | c.3207G= (p.Leu1069=) n.3313G= | |
| 14 | g.23422218C>G | CA485621787 | MYH7 | c.3207G>C (p.Leu1069=) n.3313G>C | ClinVar dbSNP |
| 14 | g.23422218C>T | CA485621788 | MYH7 | c.3207G>A (p.Leu1069=) n.3313G>A | gnomAD v4 |
| 14 | g.23422219A>C | CA389045195 | MYH7 | c.3206T>G (p.Leu1069Arg) n.3312T>G | |
| 14 | g.23422219A>G | CA389045196 | MYH7 | c.3206T>C (p.Leu1069Pro) n.3312T>C | |
| 14 | g.23422219A>T | CA389045198 | MYH7 | c.3206T>A (p.Leu1069Gln) n.3312T>A | |
| 14 | g.23422220G>A | CA485621792 | MYH7 | c.3205C>T (p.Leu1069=) n.3311C>T | dbSNP |
| 14 | g.23422220G>C | CA389045200 | MYH7 | c.3205C>G (p.Leu1069Val) n.3311C>G | |
| 14 | g.23422220G>T | CA389045202 | MYH7 | c.3205C>A (p.Leu1069Met) n.3311C>A | |
| 14 | g.23422221G>A | CA485621793 | MYH7 | c.3204C>T (p.Asp1068=) n.3310C>T | ClinVar |
| 14 | g.23422221G>C | CA389045203 | MYH7 | c.3204C>G (p.Asp1068Glu) n.3310C>G | gnomAD v4 |
| 14 | g.23422221G>T | CA389045204 | MYH7 | c.3204C>A (p.Asp1068Glu) n.3310C>A | |
| 14 | g.23422222T>A | CA389045206 | MYH7 | c.3203A>T (p.Asp1068Val) n.3309A>T | |
| 14 | g.23422222T>C | CA389045208 | MYH7 | c.3203A>G (p.Asp1068Gly) n.3309A>G | ClinVar dbSNP |
| 14 | g.23422222T>G | CA389045209 | MYH7 | c.3203A>C (p.Asp1068Ala) n.3309A>C | |
| 14 | g.23422222T= | CA2123450579 | MYH7 | c.3203A= (p.Asp1068=) n.3309A= | |
| 14 | g.23422223C>A | CA389045211 | MYH7 | c.3202G>T (p.Asp1068Tyr) n.3308G>T | ClinVar |
| 14 | g.23422223C>G | CA389045214 | MYH7 | c.3202G>C (p.Asp1068His) n.3308G>C | |
| 14 | g.23422223C>T | CA389045212 | MYH7 | c.3202G>A (p.Asp1068Asn) n.3308G>A | ClinVar dbSNP |
| 14 | g.23422224C>A | CA389045216 | MYH7 | c.3201G>T (p.Met1067Ile) n.3307G>T | gnomAD v4 |
| 14 | g.23422224C>G | CA389045218 | MYH7 | c.3201G>C (p.Met1067Ile) n.3307G>C | |
| 14 | g.23422224C>T | CA389045219 | MYH7 | c.3201G>A (p.Met1067Ile) n.3307G>A | |
| 14 | g.23422225A= | CA2123450585 | MYH7 | c.3200T= (p.Met1067=) n.3306T= | |
| 14 | g.23422225A>C | CA389045220 | MYH7 | c.3200T>G (p.Met1067Arg) n.3306T>G | |
| 14 | g.23422225A>G | CA036139 | MYH7 | c.3200T>C (p.Met1067Thr) n.3306T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422225A>T | CA389045223 | MYH7 | c.3200T>A (p.Met1067Lys) n.3306T>A | |
| 14 | g.23422226T>A | CA389045224 | MYH7 | c.3199A>T (p.Met1067Leu) n.3305A>T | |
| 14 | g.23422226T>C | CA389045225 | MYH7 | c.3199A>G (p.Met1067Val) n.3305A>G | gnomAD v4 |
| 14 | g.23422226T>G | CA389045227 | MYH7 | c.3199A>C (p.Met1067Leu) n.3305A>C | |
| 14 | g.23422227G>A | CA485621798 | MYH7 | c.3198C>T (p.Ile1066=) n.3304C>T | |
| 14 | g.23422227G>C | CA389045228 | MYH7 | c.3198C>G (p.Ile1066Met) n.3304C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422227G= | CA2123450591 | MYH7 | c.3198C= (p.Ile1066=) n.3304C= | |
| 14 | g.23422227G>T | CA485621799 | MYH7 | c.3198C>A (p.Ile1066=) n.3304C>A | |
| 14 | g.23422228del | CA2573149853 | MYH7 | c.3197del (p.Ile1066ThrfsTer15) n.3303del | ClinVar dbSNP |
| 14 | g.23422228A= | CA2123450602 | MYH7 | c.3197T= (p.Ile1066=) n.3303T= | |
| 14 | g.23422228A>C | CA389045233 | MYH7 | c.3197T>G (p.Ile1066Ser) n.3303T>G | |
| 14 | g.23422228A>G | CA389045232 | MYH7 | c.3197T>C (p.Ile1066Thr) n.3303T>C | dbSNP |
| 14 | g.23422228A>T | CA389045230 | MYH7 | c.3197T>A (p.Ile1066Asn) n.3303T>A | |
| 14 | g.23422229T>A | CA389045235 | MYH7 | c.3196A>T (p.Ile1066Phe) n.3302A>T | |
| 14 | g.23422229T>C | CA036113 | MYH7 | c.3196A>G (p.Ile1066Val) n.3302A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422229T>G | CA389045236 | MYH7 | c.3196A>C (p.Ile1066Leu) n.3302A>C | |
| 14 | g.23422229T= | CA2123450612 | MYH7 | c.3196A= (p.Ile1066=) n.3302A= | |
| 14 | g.23422230del | CA2697553841 | MYH7 | c.3195del (p.Ser1065ArgfsTer16) n.3301del | ClinVar |
| 14 | g.23422230G>A | CA485621803 | MYH7 | c.3195C>T (p.Ser1065=) n.3301C>T | |
| 14 | g.23422230G>C | CA389045238 | MYH7 | c.3195C>G (p.Ser1065Arg) n.3301C>G | |
| 14 | g.23422230G>T | CA389045240 | MYH7 | c.3195C>A (p.Ser1065Arg) n.3301C>A | |
| 14 | g.23422231C>A | CA389045241 | MYH7 | c.3194G>T (p.Ser1065Ile) n.3300G>T | |
| 14 | g.23422231C= | CA2123450620 | MYH7 | c.3194G= (p.Ser1065=) n.3300G= | |
| 14 | g.23422231C>G | CA389045242 | MYH7 | c.3194G>C (p.Ser1065Thr) n.3300G>C | dbSNP |
| 14 | g.23422231C>T | CA389045243 | MYH7 | c.3194G>A (p.Ser1065Asn) n.3300G>A | ClinVar |
| 14 | g.23422232T>A | CA389045244 | MYH7 | c.3193A>T (p.Ser1065Cys) n.3299A>T | |
| 14 | g.23422232T>C | CA389045245 | MYH7 | c.3193A>G (p.Ser1065Gly) n.3299A>G | dbSNP COSMIC |
| 14 | g.23422232T>G | CA389045247 | MYH7 | c.3193A>C (p.Ser1065Arg) n.3299A>C | |
| 14 | g.23422232T= | CA2123450624 | MYH7 | c.3193A= (p.Ser1065=) n.3299A= | |
| 14 | g.23422232_23422233insG | CA2695219134 | MYH7 | c.3192_3193insC (p.Ser1065GlnfsTer8) n.3298_3299insC | |
| 14 | g.23422233C>A | CA389045250 | MYH7 | c.3192G>T (p.Glu1064Asp) n.3298G>T | |
| 14 | g.23422233C= | CA2123450628 | MYH7 | c.3192G= (p.Glu1064=) n.3298G= | |
| 14 | g.23422233C>G | CA389045249 | MYH7 | c.3192G>C (p.Glu1064Asp) n.3298G>C | dbSNP gnomAD v4 |
| 14 | g.23422233C>T | CA036102 | MYH7 | c.3192G>A (p.Glu1064=) n.3298G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422234T>A | CA389045252 | MYH7 | c.3191A>T (p.Glu1064Val) n.3297A>T | |
| 14 | g.23422234T>C | CA389045254 | MYH7 | c.3191A>G (p.Glu1064Gly) n.3297A>G | |
| 14 | g.23422234T>G | CA389045255 | MYH7 | c.3191A>C (p.Glu1064Ala) n.3297A>C | |
| 14 | g.23422235C>A | CA389045257 | MYH7 | c.3190G>T (p.Glu1064Ter) n.3296G>T | dbSNP gnomAD v4 |
| 14 | g.23422235C= | CA2123450634 | MYH7 | c.3190G= (p.Glu1064=) n.3296G= | |
| 14 | g.23422235C>G | CA389045258 | MYH7 | c.3190G>C (p.Glu1064Gln) n.3296G>C | |
| 14 | g.23422235C>T | CA389045259 | MYH7 | c.3190G>A (p.Glu1064Lys) n.3296G>A | ClinVar dbSNP |
| 14 | g.23422236C>A | CA389045261 | MYH7 | c.3189G>T (p.Gln1063His) n.3295G>T | |
| 14 | g.23422236C= | CA2123450635 | MYH7 | c.3189G= (p.Gln1063=) n.3295G= | |
| 14 | g.23422236C>G | CA389045263 | MYH7 | c.3189G>C (p.Gln1063His) n.3295G>C | |
| 14 | g.23422236C>T | CA036083 | MYH7 | c.3189G>A (p.Gln1063=) n.3295G>A | ClinVar dbSNP ExAC gnomAD v4 |
| 14 | g.23422237T>A | CA389045265 | MYH7 | c.3188A>T (p.Gln1063Leu) n.3294A>T | gnomAD v4 |
| 14 | g.23422237T>C | CA389045266 | MYH7 | c.3188A>G (p.Gln1063Arg) n.3294A>G | |
| 14 | g.23422237T>G | CA389045267 | MYH7 | c.3188A>C (p.Gln1063Pro) n.3294A>C | |
| 14 | g.23422238G>A | CA389045268 | MYH7 | c.3187C>T (p.Gln1063Ter) n.3293C>T | |
| 14 | g.23422238G>C | CA389045269 | MYH7 | c.3187C>G (p.Gln1063Glu) n.3293C>G | |
| 14 | g.23422238G>T | CA389045271 | MYH7 | c.3187C>A (p.Gln1063Lys) n.3293C>A | |
| 14 | g.23422240del | CA2573149854 | MYH7 | c.3187del (p.Gln1063ArgfsTer18) n.3293del | ClinVar dbSNP |
| 14 | g.23422239G>A | CA485621810 | MYH7 | c.3186C>T (p.Thr1062=) n.3292C>T | gnomAD v4 |
| 14 | g.23422239G>C | CA485621811 | MYH7 | c.3186C>G (p.Thr1062=) n.3292C>G | |
| 14 | g.23422239G>T | CA485621812 | MYH7 | c.3186C>A (p.Thr1062=) n.3292C>A | |
| 14 | g.23422240G>A | CA389045273 | MYH7 | c.3185C>T (p.Thr1062Ile) n.3291C>T | COSMIC |
| 14 | g.23422240G>C | CA389045274 | MYH7 | c.3185C>G (p.Thr1062Ser) n.3291C>G | |
| 14 | g.23422240G>T | CA389045276 | MYH7 | c.3185C>A (p.Thr1062Asn) n.3291C>A | |
| 14 | g.23422241T>A | CA389045277 | MYH7 | c.3184A>T (p.Thr1062Ser) n.3290A>T | ClinVar dbSNP |
| 14 | g.23422241T>C | CA389045278 | MYH7 | c.3184A>G (p.Thr1062Ala) n.3290A>G | |
| 14 | g.23422241T>G | CA389045280 | MYH7 | c.3184A>C (p.Thr1062Pro) n.3290A>C | |
| 14 | g.23422241T= | CA2123450638 | MYH7 | c.3184A= (p.Thr1062=) n.3290A= | |
| 14 | g.23422242C>A | CA485621814 | MYH7 | c.3183G>T (p.Leu1061=) n.3289G>T | COSMIC |
| 14 | g.23422242C>G | CA485621815 | MYH7 | c.3183G>C (p.Leu1061=) n.3289G>C | |
| 14 | g.23422242C>T | CA485621816 | MYH7 | c.3183G>A (p.Leu1061=) n.3289G>A | |
| 14 | g.23422243A>C | CA389045284 | MYH7 | c.3182T>G (p.Leu1061Arg) n.3288T>G | |
| 14 | g.23422243A>G | CA389045281 | MYH7 | c.3182T>C (p.Leu1061Pro) n.3288T>C | |
| 14 | g.23422243A>T | CA389045283 | MYH7 | c.3182T>A (p.Leu1061Gln) n.3288T>A | |
| 14 | g.23422244G>A | CA485621820 | MYH7 | c.3181C>T (p.Leu1061=) n.3287C>T | dbSNP |
| 14 | g.23422244G>C | CA389045286 | MYH7 | c.3181C>G (p.Leu1061Val) n.3287C>G | |
| 14 | g.23422244G= | CA2123450643 | MYH7 | c.3181C= (p.Leu1061=) n.3287C= | |
| 14 | g.23422244G>T | CA389045287 | MYH7 | c.3181C>A (p.Leu1061Met) n.3287C>A | |
| 14 | g.23422245C>A | CA389045288 | MYH7 | c.3180G>T (p.Lys1060Asn) n.3286G>T | |
| 14 | g.23422245C>G | CA389045290 | MYH7 | c.3180G>C (p.Lys1060Asn) n.3286G>C | COSMIC |
| 14 | g.23422245C>T | CA485621822 | MYH7 | c.3180G>A (p.Lys1060=) n.3286G>A | |
| 14 | g.23422246T>A | CA389045291 | MYH7 | c.3179A>T (p.Lys1060Met) n.3285A>T | |
| 14 | g.23422246T>C | CA389045293 | MYH7 | c.3179A>G (p.Lys1060Arg) n.3285A>G | |
| 14 | g.23422246T>G | CA389045294 | MYH7 | c.3179A>C (p.Lys1060Thr) n.3285A>C | |
| 14 | g.23422247T>A | CA389045295 | MYH7 | c.3178A>T (p.Lys1060Ter) n.3284A>T | |
| 14 | g.23422247T>C | CA389045296 | MYH7 | c.3178A>G (p.Lys1060Glu) n.3284A>G | |
| 14 | g.23422247T>G | CA389045297 | MYH7 | c.3178A>C (p.Lys1060Gln) n.3284A>C | |
| 14 | g.23422248C>A | CA036063 | MYH7 | c.3177G>T (p.Leu1059=) n.3283G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422248C= | CA2123450646 | MYH7 | c.3177G= (p.Leu1059=) n.3283G= | |
| 14 | g.23422248C>G | CA485621823 | MYH7 | c.3177G>C (p.Leu1059=) n.3283G>C | |
| 14 | g.23422248C>T | CA485621824 | MYH7 | c.3177G>A (p.Leu1059=) n.3283G>A | |
| 14 | g.23422254_23422286del | CA2580088204 | MYH7 | c.3145_3177del (p.Glu1049_Leu1059del) n.3251_3283del | ClinVar |
| 14 | g.23422249A>C | CA389045298 | MYH7 | c.3176T>G (p.Leu1059Arg) n.3282T>G | |
| 14 | g.23422249A>G | CA389045300 | MYH7 | c.3176T>C (p.Leu1059Pro) n.3282T>C | |
| 14 | g.23422249A>T | CA389045302 | MYH7 | c.3176T>A (p.Leu1059Gln) n.3282T>A | |
| 14 | g.23422250G>A | CA485621828 | MYH7 | c.3175C>T (p.Leu1059=) n.3281C>T | |
| 14 | g.23422250G>C | CA389045303 | MYH7 | c.3175C>G (p.Leu1059Val) n.3281C>G | |
| 14 | g.23422250G= | CA2123450650 | MYH7 | c.3175C= (p.Leu1059=) n.3281C= | |
| 14 | g.23422250G>T | CA389045304 | MYH7 | c.3175C>A (p.Leu1059Met) n.3281C>A | dbSNP |
| 14 | g.23422251del | CA2580088205 | MYH7 | c.3175del (p.Leu1059Ter) n.3281del | ClinVar |
| 14 | g.23422251G>A | CA485621830 | MYH7 | c.3174C>T (p.Asp1058=) n.3280C>T | |
| 14 | g.23422251G>C | CA389045306 | MYH7 | c.3174C>G (p.Asp1058Glu) n.3280C>G | dbSNP |
| 14 | g.23422251G= | CA2123450653 | MYH7 | c.3174C= (p.Asp1058=) n.3280C= | |
| 14 | g.23422251G>T | CA389045308 | MYH7 | c.3174C>A (p.Asp1058Glu) n.3280C>A | |
| 14 | g.23422251_23422252insAGAGC | CA2624234371 | MYH7 | c.3173_3174insGCTCT (p.Asp1058GlufsTer4) n.3279_3280insGCTCT | gnomAD v4 |
| 14 | g.23422252T>A | CA389045309 | MYH7 | c.3173A>T (p.Asp1058Val) n.3279A>T | |
| 14 | g.23422252T>C | CA389045311 | MYH7 | c.3173A>G (p.Asp1058Gly) n.3279A>G | ClinVar |
| 14 | g.23422252T>G | CA389045312 | MYH7 | c.3173A>C (p.Asp1058Ala) n.3279A>C | |
| 14 | g.23422253C>A | CA013452 | MYH7 | c.3172G>T (p.Asp1058Tyr) n.3278G>T | ClinVar dbSNP |
| 14 | g.23422253C= | CA2123450659 | MYH7 | c.3172G= (p.Asp1058=) n.3278G= | |
| 14 | g.23422253C>G | CA389045313 | MYH7 | c.3172G>C (p.Asp1058His) n.3278G>C | |
| 14 | g.23422253C>T | CA013446 | MYH7 | c.3172G>A (p.Asp1058Asn) n.3278G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422254G>A | CA036041 | MYH7 | c.3171C>T (p.Gly1057=) n.3277C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23422254G>C | CA485621832 | MYH7 | c.3171C>G (p.Gly1057=) n.3277C>G | |
| 14 | g.23422254G= | CA2123450662 | MYH7 | c.3171C= (p.Gly1057=) n.3277C= | |
| 14 | g.23422254G>T | CA485621833 | MYH7 | c.3171C>A (p.Gly1057=) n.3277C>A | gnomAD v4 |
| 14 | g.23422255C>A | CA389045316 | MYH7 | c.3170G>T (p.Gly1057Val) n.3276G>T | |
| 14 | g.23422255C= | CA2123450666 | MYH7 | c.3170G= (p.Gly1057=) n.3276G= | |
| 14 | g.23422255C>G | CA389045318 | MYH7 | c.3170G>C (p.Gly1057Ala) n.3276G>C | |
| 14 | g.23422255C>T | CA389045319 | MYH7 | c.3170G>A (p.Gly1057Asp) n.3276G>A | ClinVar dbSNP |
| 14 | g.23422257del | CA2697553842 | MYH7 | c.3170del (p.Gly1057AlafsTer3) n.3276del | ClinVar |
| 14 | g.23422256C>A | CA389045320 | MYH7 | c.3169G>T (p.Gly1057Cys) n.3275G>T | |
| 14 | g.23422256C= | CA2123450671 | MYH7 | c.3169G= (p.Gly1057=) n.3275G= | |
| 14 | g.23422256C>G | CA389045323 | MYH7 | c.3169G>C (p.Gly1057Arg) n.3275G>C | |
| 14 | g.23422256C>T | CA013436 | MYH7 | c.3169G>A (p.Gly1057Ser) n.3275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422256_23422257insTGGGTCAG | CA2624234399 | MYH7 | c.3168_3169insCTGACCCA (p.Gly1057LeufsTer6) n.3274_3275insCTGACCCA | gnomAD v4 |
| 14 | g.23422257C>A | CA389045324 | MYH7 | c.3168G>T (p.Glu1056Asp) n.3274G>T | |
| 14 | g.23422257C= | CA2123450679 | MYH7 | c.3168G= (p.Glu1056=) n.3274G= | |
| 14 | g.23422257C>G | CA036012 | MYH7 | c.3168G>C (p.Glu1056Asp) n.3274G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422257C>T | CA485621837 | MYH7 | c.3168G>A (p.Glu1056=) n.3274G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422258T>A | CA389045326 | MYH7 | c.3167A>T (p.Glu1056Val) n.3273A>T | |
| 14 | g.23422258T>C | CA389045327 | MYH7 | c.3167A>G (p.Glu1056Gly) n.3273A>G | |
| 14 | g.23422258T>G | CA389045328 | MYH7 | c.3167A>C (p.Glu1056Ala) n.3273A>C | |
| 14 | g.23422259C>A | CA389045329 | MYH7 | c.3166G>T (p.Glu1056Ter) n.3272G>T | |
| 14 | g.23422259C>G | CA389045330 | MYH7 | c.3166G>C (p.Glu1056Gln) n.3272G>C | |
| 14 | g.23422259C>T | CA389045331 | MYH7 | c.3166G>A (p.Glu1056Lys) n.3272G>A | COSMIC |
| 14 | g.23422259_23422260insTTCAGGGT | CA2624234407 | MYH7 | c.3165_3166insACCCTGAA (p.Glu1056ThrfsTer7) n.3271_3272insACCCTGAA | gnomAD v4 |
| 14 | g.23422260C>A | CA485621839 | MYH7 | c.3165G>T (p.Leu1055=) n.3271G>T | |
| 14 | g.23422260C= | CA2123450687 | MYH7 | c.3165G= (p.Leu1055=) n.3271G= | |
| 14 | g.23422260C>G | CA485621840 | MYH7 | c.3165G>C (p.Leu1055=) n.3271G>C | |
| 14 | g.23422260C>T | CA485621841 | MYH7 | c.3165G>A (p.Leu1055=) n.3271G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23422261A>C | CA389045332 | MYH7 | c.3164T>G (p.Leu1055Arg) n.3270T>G | |
| 14 | g.23422261A>G | CA389045334 | MYH7 | c.3164T>C (p.Leu1055Pro) n.3270T>C | |
| 14 | g.23422261A>T | CA389045335 | MYH7 | c.3164T>A (p.Leu1055Gln) n.3270T>A | |
| 14 | g.23422262G>A | CA485621843 | MYH7 | c.3163C>T (p.Leu1055=) n.3269C>T | |
| 14 | g.23422262G>C | CA389045337 | MYH7 | c.3163C>G (p.Leu1055Val) n.3269C>G | |
| 14 | g.23422262G= | CA2123450694 | MYH7 | c.3163C= (p.Leu1055=) n.3269C= | |
| 14 | g.23422262G>T | CA013428 | MYH7 | c.3163C>A (p.Leu1055Met) n.3269C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422263C>A | CA389045340 | MYH7 | c.3162G>T (p.Lys1054Asn) n.3268G>T | |
| 14 | g.23422263C= | CA2123450703 | MYH7 | c.3162G= (p.Lys1054=) n.3268G= | |
| 14 | g.23422263C>G | CA389045338 | MYH7 | c.3162G>C (p.Lys1054Asn) n.3268G>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23422263C>T | CA485621846 | MYH7 | c.3162G>A (p.Lys1054=) n.3268G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422264T>A | CA389045342 | MYH7 | c.3161A>T (p.Lys1054Met) n.3267A>T | |
| 14 | g.23422264T>C | CA389045344 | MYH7 | c.3161A>G (p.Lys1054Arg) n.3267A>G | |
| 14 | g.23422264T>G | CA389045345 | MYH7 | c.3161A>C (p.Lys1054Thr) n.3267A>C | |
| 14 | g.23422265T>A | CA389045346 | MYH7 | c.3160A>T (p.Lys1054Ter) n.3266A>T | |
| 14 | g.23422265T>C | CA013421 | MYH7 | c.3160A>G (p.Lys1054Glu) n.3266A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422265T>G | CA389045347 | MYH7 | c.3160A>C (p.Lys1054Gln) n.3266A>C | |
| 14 | g.23422265T= | CA2123450710 | MYH7 | c.3160A= (p.Lys1054=) n.3266A= | |
| 14 | g.23422266C>A | CA485621854 | MYH7 | c.3159G>T (p.Arg1053=) n.3265G>T | |
| 14 | g.23422266C= | CA2123450717 | MYH7 | c.3159G= (p.Arg1053=) n.3265G= | |
| 14 | g.23422266C>G | CA485621855 | MYH7 | c.3159G>C (p.Arg1053=) n.3265G>C | |
| 14 | g.23422266C>T | CA035997 | MYH7 | c.3159G>A (p.Arg1053=) n.3265G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422267C>A | CA389045348 | MYH7 | c.3158G>T (p.Arg1053Leu) n.3264G>T | |
| 14 | g.23422267C= | CA2123450725 | MYH7 | c.3158G= (p.Arg1053=) n.3264G= | |
| 14 | g.23422267C>G | CA389045349 | MYH7 | c.3158G>C (p.Arg1053Pro) n.3264G>C | |
| 14 | g.23422267C>T | CA013417 | MYH7 | c.3158G>A (p.Arg1053Gln) n.3264G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23422268G>A | CA013411 | MYH7 | c.3157C>T (p.Arg1053Trp) n.3263C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422268G>C | CA389045350 | MYH7 | c.3157C>G (p.Arg1053Gly) n.3263C>G | |
| 14 | g.23422268G= | CA2123450738 | MYH7 | c.3157C= (p.Arg1053=) n.3263C= | |
| 14 | g.23422268G>T | CA485621863 | MYH7 | c.3157C>A (p.Arg1053=) n.3263C>A | |
| 14 | g.23422269C>A | CA389045351 | MYH7 | c.3156G>T (p.Lys1052Asn) n.3262G>T | |
| 14 | g.23422269C= | CA2123450766 | MYH7 | c.3156G= (p.Lys1052=) n.3262G= | |
| 14 | g.23422269C>G | CA389045352 | MYH7 | c.3156G>C (p.Lys1052Asn) n.3262G>C | |
| 14 | g.23422269C>T | CA013406 | MYH7 | c.3156G>A (p.Lys1052=) n.3262G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422270T>A | CA389045353 | MYH7 | c.3155A>T (p.Lys1052Met) n.3261A>T | |
| 14 | g.23422270T>C | CA389045354 | MYH7 | c.3155A>G (p.Lys1052Arg) n.3261A>G | |
| 14 | g.23422270T>G | CA389045357 | MYH7 | c.3155A>C (p.Lys1052Thr) n.3261A>C | |
| 14 | g.23422271T>A | CA389045358 | MYH7 | c.3154A>T (p.Lys1052Ter) n.3260A>T | |
| 14 | g.23422271T>C | CA389045360 | MYH7 | c.3154A>G (p.Lys1052Glu) n.3260A>G | ClinVar dbSNP |
| 14 | g.23422271T>G | CA389045361 | MYH7 | c.3154A>C (p.Lys1052Gln) n.3260A>C | |
| 14 | g.23422271T= | CA2123450772 | MYH7 | c.3154A= (p.Lys1052=) n.3260A= | |
| 14 | g.23422272C>A | CA485621876 | MYH7 | c.3153G>T (p.Ala1051=) n.3259G>T | gnomAD v3 gnomAD v4 |
| 14 | g.23422272C= | CA2123450778 | MYH7 | c.3153G= (p.Ala1051=) n.3259G= | |
| 14 | g.23422272C>G | CA485621877 | MYH7 | c.3153G>C (p.Ala1051=) n.3259G>C | dbSNP |
| 14 | g.23422272C>T | CA013398 | MYH7 | c.3153G>A (p.Ala1051=) n.3259G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422273G>A | CA013389 | MYH7 | c.3152C>T (p.Ala1051Val) n.3258C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422273G>C | CA389045363 | MYH7 | c.3152C>G (p.Ala1051Gly) n.3258C>G | dbSNP |
| 14 | g.23422273G= | CA2123450788 | MYH7 | c.3152C= (p.Ala1051=) n.3258C= | |
| 14 | g.23422273G>T | CA389045365 | MYH7 | c.3152C>A (p.Ala1051Glu) n.3258C>A | ClinVar dbSNP |
| 14 | g.23422274C>A | CA389045367 | MYH7 | c.3151G>T (p.Ala1051Ser) n.3257G>T | |
| 14 | g.23422274C= | CA2123450795 | MYH7 | c.3151G= (p.Ala1051=) n.3257G= | |
| 14 | g.23422274C>G | CA389045368 | MYH7 | c.3151G>C (p.Ala1051Pro) n.3257G>C | |
| 14 | g.23422274C>T | CA389045369 | MYH7 | c.3151G>A (p.Ala1051Thr) n.3257G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422275T>A | CA485621890 | MYH7 | c.3150A>T (p.Arg1050=) n.3256A>T | |
| 14 | g.23422275T>C | CA485621891 | MYH7 | c.3150A>G (p.Arg1050=) n.3256A>G | ClinVar |
| 14 | g.23422275T>G | CA485621893 | MYH7 | c.3150A>C (p.Arg1050=) n.3256A>C | |
| 14 | g.23422276C>A | CA389045374 | MYH7 | c.3149G>T (p.Arg1050Leu) n.3255G>T | |
| 14 | g.23422276C= | CA2123450804 | MYH7 | c.3149G= (p.Arg1050=) n.3255G= | |
| 14 | g.23422276C>G | CA035905 | MYH7 | c.3149G>C (p.Arg1050Pro) n.3255G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422276C>T | CA389045372 | MYH7 | c.3149G>A (p.Arg1050Gln) n.3255G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422277G>A | CA013380 | MYH7 | c.3148C>T (p.Arg1050Ter) n.3254C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422277G>C | CA389045375 | MYH7 | c.3148C>G (p.Arg1050Gly) n.3254C>G | |
| 14 | g.23422277G= | CA2123450812 | MYH7 | c.3148C= (p.Arg1050=) n.3254C= | |
| 14 | g.23422277G>T | CA035886 | MYH7 | c.3148C>A (p.Arg1050=) n.3254C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422278C>A | CA389045377 | MYH7 | c.3147G>T (p.Glu1049Asp) n.3253G>T | |
| 14 | g.23422278C= | CA2123450820 | MYH7 | c.3147G= (p.Glu1049=) n.3253G= | |
| 14 | g.23422278C>G | CA389045378 | MYH7 | c.3147G>C (p.Glu1049Asp) n.3253G>C | |
| 14 | g.23422278C>T | CA485621901 | MYH7 | c.3147G>A (p.Glu1049=) n.3253G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23422279T>A | CA389045380 | MYH7 | c.3146A>T (p.Glu1049Val) n.3252A>T | |
| 14 | g.23422279T>C | CA389045381 | MYH7 | c.3146A>G (p.Glu1049Gly) n.3252A>G | |
| 14 | g.23422279T>G | CA389045382 | MYH7 | c.3146A>C (p.Glu1049Ala) n.3252A>C | |
| 14 | g.23422280C>A | CA389045384 | MYH7 | c.3145G>T (p.Glu1049Ter) n.3251G>T | |
| 14 | g.23422280C= | CA2123450827 | MYH7 | c.3145G= (p.Glu1049=) n.3251G= | |
| 14 | g.23422280C>G | CA389045388 | MYH7 | c.3145G>C (p.Glu1049Gln) n.3251G>C | |
| 14 | g.23422280C>T | CA389045390 | MYH7 | c.3145G>A (p.Glu1049Lys) n.3251G>A | dbSNP gnomAD v4 |
| 14 | g.23422281C>A | CA485621909 | MYH7 | c.3144G>T (p.Leu1048=) n.3250G>T | |
| 14 | g.23422281C= | CA2123450832 | MYH7 | c.3144G= (p.Leu1048=) n.3250G= | |
| 14 | g.23422281C>G | CA485621910 | MYH7 | c.3144G>C (p.Leu1048=) n.3250G>C | |
| 14 | g.23422281C>T | CA035861 | MYH7 | c.3144G>A (p.Leu1048=) n.3250G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23422282A>C | CA389045394 | MYH7 | c.3143T>G (p.Leu1048Arg) n.3249T>G | |
| 14 | g.23422282A>G | CA389045393 | MYH7 | c.3143T>C (p.Leu1048Pro) n.3249T>C | |
| 14 | g.23422282A>T | CA389045392 | MYH7 | c.3143T>A (p.Leu1048Gln) n.3249T>A | |
| 14 | g.23422283G>A | CA485621918 | MYH7 | c.3142C>T (p.Leu1048=) n.3248C>T | |
| 14 | g.23422283G>C | CA389045396 | MYH7 | c.3142C>G (p.Leu1048Val) n.3248C>G | |
| 14 | g.23422283G>T | CA389045398 | MYH7 | c.3142C>A (p.Leu1048Met) n.3248C>A | COSMIC |
| 14 | g.23422284G>A | CA485621923 | MYH7 | c.3141C>T (p.Asp1047=) n.3247C>T | ClinVar dbSNP |
| 14 | g.23422284G>C | CA389045399 | MYH7 | c.3141C>G (p.Asp1047Glu) n.3247C>G | |
| 14 | g.23422284G= | CA2123450843 | MYH7 | c.3141C= (p.Asp1047=) n.3247C= | |
| 14 | g.23422284G>T | CA389045400 | MYH7 | c.3141C>A (p.Asp1047Glu) n.3247C>A | |
| 14 | g.23422285T>A | CA389045402 | MYH7 | c.3140A>T (p.Asp1047Val) n.3246A>T | |
| 14 | g.23422285T>C | CA389045404 | MYH7 | c.3140A>G (p.Asp1047Gly) n.3246A>G | |
| 14 | g.23422285T>G | CA389045405 | MYH7 | c.3140A>C (p.Asp1047Ala) n.3246A>C | |
| 14 | g.23422286C>A | CA389045407 | MYH7 | c.3139G>T (p.Asp1047Tyr) n.3245G>T | |
| 14 | g.23422286C>G | CA389045408 | MYH7 | c.3139G>C (p.Asp1047His) n.3245G>C | ClinVar gnomAD v4 |
| 14 | g.23422286C>T | CA389045410 | MYH7 | c.3139G>A (p.Asp1047Asn) n.3245G>A | COSMIC |
| 14 | g.23422287C>A | CA389045412 | MYH7 | c.3138G>T (p.Met1046Ile) n.3244G>T | COSMIC |
| 14 | g.23422287C= | CA2123450857 | MYH7 | c.3138G= (p.Met1046=) n.3244G= | |
| 14 | g.23422287C>G | CA389045413 | MYH7 | c.3138G>C (p.Met1046Ile) n.3244G>C | |
| 14 | g.23422287C>T | CA035844 | MYH7 | c.3138G>A (p.Met1046Ile) n.3244G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23422288A= | CA2123450880 | MYH7 | c.3137T= (p.Met1046=) n.3243T= | |
| 14 | g.23422288A>C | CA035837 | MYH7 | c.3137T>G (p.Met1046Arg) n.3243T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422288A>G | CA389045415 | MYH7 | c.3137T>C (p.Met1046Thr) n.3243T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422288A>T | CA389045417 | MYH7 | c.3137T>A (p.Met1046Lys) n.3243T>A | |
| 14 | g.23422289T>A | CA389045422 | MYH7 | c.3136A>T (p.Met1046Leu) n.3242A>T | |
| 14 | g.23422289T>C | CA389045419 | MYH7 | c.3136A>G (p.Met1046Val) n.3242A>G | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422289T>G | CA389045421 | MYH7 | c.3136A>C (p.Met1046Leu) n.3242A>C | ClinVar dbSNP |
| 14 | g.23422289T= | CA2123450891 | MYH7 | c.3136A= (p.Met1046=) n.3242A= | |
| 14 | g.23422290G>A | CA485621938 | MYH7 | c.3135C>T (p.Arg1045=) n.3241C>T | |
| 14 | g.23422290G>C | CA485621940 | MYH7 | c.3135C>G (p.Arg1045=) n.3241C>G | |
| 14 | g.23422290G>T | CA485621942 | MYH7 | c.3135C>A (p.Arg1045=) n.3241C>A | dbSNP |
| 14 | g.23422291C>A | CA013375 | MYH7 | c.3134G>T (p.Arg1045Leu) n.3240G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422291C= | CA2123450908 | MYH7 | c.3134G= (p.Arg1045=) n.3240G= | |
| 14 | g.23422291C>G | CA389045425 | MYH7 | c.3134G>C (p.Arg1045Pro) n.3240G>C | dbSNP |
| 14 | g.23422291C>T | CA035801 | MYH7 | c.3134G>A (p.Arg1045His) n.3240G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422292G>A | CA013367 | MYH7 | c.3133C>T (p.Arg1045Cys) n.3239C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422292G>C | CA389045427 | MYH7 | c.3133C>G (p.Arg1045Gly) n.3239C>G | |
| 14 | g.23422292G= | CA2123450917 | MYH7 | c.3133C= (p.Arg1045=) n.3239C= | |
| 14 | g.23422292G>T | CA389045429 | MYH7 | c.3133C>A (p.Arg1045Ser) n.3239C>A | dbSNP gnomAD v4 |
| 14 | g.23422293C>A | CA485621950 | MYH7 | c.3132G>T (p.Val1044=) n.3238G>T | |
| 14 | g.23422293C= | CA2123450924 | MYH7 | c.3132G= (p.Val1044=) n.3238G= | |
| 14 | g.23422293C>G | CA485621952 | MYH7 | c.3132G>C (p.Val1044=) n.3238G>C | |
| 14 | g.23422293C>T | CA485621954 | MYH7 | c.3132G>A (p.Val1044=) n.3238G>A | dbSNP gnomAD v4 |
| 14 | g.23422294A>C | CA389045431 | MYH7 | c.3131T>G (p.Val1044Gly) n.3237T>G | |
| 14 | g.23422294A>G | CA389045432 | MYH7 | c.3131T>C (p.Val1044Ala) n.3237T>C | ClinVar gnomAD v4 |
| 14 | g.23422294A>T | CA389045433 | MYH7 | c.3131T>A (p.Val1044Glu) n.3237T>A | |
| 14 | g.23422295C>A | CA389045435 | MYH7 | c.3130G>T (p.Val1044Leu) n.3236G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422295C>G | CA389045437 | MYH7 | c.3130G>C (p.Val1044Leu) n.3236G>C | |
| 14 | g.23422295C>T | CA389045438 | MYH7 | c.3130G>A (p.Val1044Met) n.3236G>A | ClinVar |
| 14 | g.23422296C>A | CA389045440 | MYH7 | c.3129G>T (p.Lys1043Asn) n.3235G>T | gnomAD v4 |
| 14 | g.23422296C>G | CA389045441 | MYH7 | c.3129G>C (p.Lys1043Asn) n.3235G>C | |
| 14 | g.23422296C>T | CA485621964 | MYH7 | c.3129G>A (p.Lys1043=) n.3235G>A | ClinVar dbSNP |
| 14 | g.23422297T>A | CA389045442 | MYH7 | c.3128A>T (p.Lys1043Met) n.3234A>T | |
| 14 | g.23422297T>C | CA389045444 | MYH7 | c.3128A>G (p.Lys1043Arg) n.3234A>G | ClinVar dbSNP |
| 14 | g.23422297T>G | CA389045445 | MYH7 | c.3128A>C (p.Lys1043Thr) n.3234A>C | |
| 14 | g.23422297T= | CA2123450926 | MYH7 | c.3128A= (p.Lys1043=) n.3234A= | |
| 14 | g.23422298T>A | CA389045447 | MYH7 | c.3127A>T (p.Lys1043Ter) n.3233A>T | |
| 14 | g.23422298T>C | CA389045449 | MYH7 | c.3127A>G (p.Lys1043Glu) n.3233A>G | |
| 14 | g.23422298T>G | CA389045450 | MYH7 | c.3127A>C (p.Lys1043Gln) n.3233A>C | |
| 14 | g.23422299C>A | CA013364 | MYH7 | c.3126G>T (p.Lys1042Asn) n.3232G>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23422299C= | CA2123450940 | MYH7 | c.3126G= (p.Lys1042=) n.3232G= | |
| 14 | g.23422299C>G | CA389045452 | MYH7 | c.3126G>C (p.Lys1042Asn) n.3232G>C | |
| 14 | g.23422299C>T | CA485621975 | MYH7 | c.3126G>A (p.Lys1042=) n.3232G>A | |
| 14 | g.23422300T>A | CA389045454 | MYH7 | c.3125A>T (p.Lys1042Met) n.3231A>T | |
| 14 | g.23422300T>C | CA257817945 | MYH7 | c.3125A>G (p.Lys1042Arg) n.3231A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422300T>G | CA389045456 | MYH7 | c.3125A>C (p.Lys1042Thr) n.3231A>C | |
| 14 | g.23422300T= | CA2123450947 | MYH7 | c.3125A= (p.Lys1042=) n.3231A= | |
| 14 | g.23422301T>A | CA389045457 | MYH7 | c.3124A>T (p.Lys1042Ter) n.3230A>T | |
| 14 | g.23422301T>C | CA389045458 | MYH7 | c.3124A>G (p.Lys1042Glu) n.3230A>G | |
| 14 | g.23422301T>G | CA389045460 | MYH7 | c.3124A>C (p.Lys1042Gln) n.3230A>C | |
| 14 | g.23422302C>A | CA389045462 | MYH7 | c.3123G>T (p.Glu1041Asp) n.3229G>T | |
| 14 | g.23422302C>G | CA389045464 | MYH7 | c.3123G>C (p.Glu1041Asp) n.3229G>C | gnomAD v4 |
| 14 | g.23422302C>T | CA485621983 | MYH7 | c.3123G>A (p.Glu1041=) n.3229G>A | |
| 14 | g.23422303T>A | CA389045465 | MYH7 | c.3122A>T (p.Glu1041Val) n.3228A>T | |
| 14 | g.23422303T>C | CA389045466 | MYH7 | c.3122A>G (p.Glu1041Gly) n.3228A>G | gnomAD v4 |
| 14 | g.23422303T>G | CA389045467 | MYH7 | c.3122A>C (p.Glu1041Ala) n.3228A>C | |
| 14 | g.23422304C>A | CA389045469 | MYH7 | c.3121G>T (p.Glu1041Ter) n.3227G>T | |
| 14 | g.23422304C>G | CA389045471 | MYH7 | c.3121G>C (p.Glu1041Gln) n.3227G>C | |
| 14 | g.23422304C>T | CA389045472 | MYH7 | c.3121G>A (p.Glu1041Lys) n.3227G>A | |
| 14 | g.23422305T>A | CA389045474 | MYH7 | c.3120A>T (p.Gln1040His) n.3226A>T | |
| 14 | g.23422305T>C | CA485621989 | MYH7 | c.3120A>G (p.Gln1040=) n.3226A>G | dbSNP |
| 14 | g.23422305T>G | CA389045477 | MYH7 | c.3120A>C (p.Gln1040His) n.3226A>C | |
| 14 | g.23422305T= | CA2123450957 | MYH7 | c.3120A= (p.Gln1040=) n.3226A= | |
| 14 | g.23422306T>A | CA389045479 | MYH7 | c.3119A>T (p.Gln1040Leu) n.3225A>T | |
| 14 | g.23422306T>C | CA389045480 | MYH7 | c.3119A>G (p.Gln1040Arg) n.3225A>G | ClinVar |
| 14 | g.23422306T>G | CA389045481 | MYH7 | c.3119A>C (p.Gln1040Pro) n.3225A>C | |
| 14 | g.23422306_23422307delinsTG | CA2123450962 | MYH7 | c.3118_3119delinsCA (p.Gln1040=) n.3224_3225delinsCA | |
| 14 | g.23422307del | CA2123450966 | MYH7 | c.3118del (p.Gln1040LysfsTer20) n.3224del | dbSNP |
| 14 | g.23422307G>A | CA389045486 | MYH7 | c.3118C>T (p.Gln1040Ter) n.3224C>T | |
| 14 | g.23422307G>C | CA389045484 | MYH7 | c.3118C>G (p.Gln1040Glu) n.3224C>G | gnomAD v4 |
| 14 | g.23422307G>T | CA389045482 | MYH7 | c.3118C>A (p.Gln1040Lys) n.3224C>A | |
| 14 | g.23422308C>A | CA389045487 | MYH7 | c.3117G>T (p.Glu1039Asp) n.3223G>T | |
| 14 | g.23422308C= | CA2123450968 | MYH7 | c.3117G= (p.Glu1039=) n.3223G= | |
| 14 | g.23422308C>G | CA389045489 | MYH7 | c.3117G>C (p.Glu1039Asp) n.3223G>C | |
| 14 | g.23422308C>T | CA485622000 | MYH7 | c.3117G>A (p.Glu1039=) n.3223G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422308_23422320delinsCTCCAGGGATCCT | CA2123450970 | MYH7 | c.3105_3117delinsAGGATCCCTGGAG (p.Glu1035=) n.3211_3223delinsAGGATCCCTGGAG | |
| 14 | g.23422309T>A | CA389045490 | MYH7 | c.3116A>T (p.Glu1039Val) n.3222A>T | |
| 14 | g.23422309T>C | CA035756 | MYH7 | c.3116A>G (p.Glu1039Gly) n.3222A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23422309T>G | CA389045492 | MYH7 | c.3116A>C (p.Glu1039Ala) n.3222A>C | |
| 14 | g.23422309T= | CA2123450974 | MYH7 | c.3116A= (p.Glu1039=) n.3222A= | |
| 14 | g.23422314_23422325del | CA1139663386 | MYH7 | c.3105_3116del (p.Gly1036_Glu1039del) n.3211_3222del | ClinVar dbSNP |