| 19 | g.13136150_13136228delinsACAGGTGAGGTGCCGTCCTGTCCCCCATCCCACCAGCCACCCCTGCTCCTCCTGCCACTCGCGTGCCACTCTCTCCCTG | CA2323741758 | NACC1 | c.943_947-4delinsACAGGTGAGGTGCCGTCCTGTCCCCCATCCCACCAGCCACCCCTGCTCCTCCTGCCACTCGCGTGCCACTCTCTCCCTG
| |
| 19 | g.13136154_13136231del | CA9238344 | NACC1 | c.946+1_947-1del
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136175_13136199delinsCATCCCACCAGCCACCCCTGCTCCT | CA2323741772 | NACC1 | c.946+22_947-33delinsCATCCCACCAGCCACCCCTGCTCCT (n.946+22_947-33delinsCATCCCACCAGCCACCCCTGCTCCT)
| |
| 19 | g.13136176_13136199del | CA9238353 | NACC1 | c.946+23_947-33del (n.946+23_947-33del)
| dbSNP ExAC |
| 19 | g.13136191_13136199delinsCCTGCTCCT | CA2323741783 | NACC1 | c.946+38_947-33delinsCCTGCTCCT (n.946+38_947-33delinsCCTGCTCCT)
| |
| 19 | g.13136192_13136193delinsCT | CA2323741785 | NACC1 | c.947-40_947-39delinsCT (n.947-40_947-39delinsCT)
| |
| 19 | g.13136192_13136196delinsCTGCT | CA2323741784 | NACC1 | c.947-40_947-36delinsCTGCT (n.947-40_947-36delinsCTGCT)
| |
| 19 | g.13136193_13136200del | CA9238360 | NACC1 | c.947-39_947-32del (n.947-39_947-32del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136193del | CA9238362 | NACC1 | c.947-39del (n.947-39del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136193T>C | CA2323741788 | NACC1 | c.947-39T>C (n.947-39T>C)
| dbSNP |
| 19 | g.13136193T= | CA2323741787 | NACC1 | c.947-39T= (n.947-39T=)
| |
| 19 | g.13136193_13136196del | CA305553518 | NACC1 | c.947-39_947-36del (n.947-39_947-36del)
| dbSNP |
| 19 | g.13136194G>C | CA9238363 | NACC1 | c.947-38G>C (n.947-38G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136194G= | CA2323741789 | NACC1 | c.947-38G= (n.947-38G=)
| |
| 19 | g.13136195C>A | CA993702996 | NACC1 | c.947-37C>A (n.947-37C>A)
| gnomAD v3 gnomAD v4 |
| 19 | g.13136195C>T | CA2582801236 | NACC1 | c.947-37C>T (n.947-37C>T)
| gnomAD v4 |
| 19 | g.13136200_13136202del | CA2504727785 | NACC1 | c.947-32_947-30del (n.947-32_947-30del)
| |
| 19 | g.13136196T>C | CA9238364 | NACC1 | c.947-36T>C (n.947-36T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136196T>G | CA2576641120 | NACC1 | c.947-36T>G (n.947-36T>G)
| |
| 19 | g.13136196T= | CA2323741790 | NACC1 | c.947-36T= (n.947-36T=)
| |
| 19 | g.13136197C= | CA2323741791 | NACC1 | c.947-35C= (n.947-35C=)
| |
| 19 | g.13136197C>G | CA783431708 | NACC1 | c.947-35C>G (n.947-35C>G)
| dbSNP gnomAD v4 |
| 19 | g.13136197C>T | CA632122736 | NACC1 | c.947-35C>T (n.947-35C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136198C= | CA2323741363 | NACC1 | c.947-34C= (n.947-34C=)
| |
| 19 | g.13136198C>T | CA783431711 | NACC1 | c.947-34C>T (n.947-34C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13136199T>C | CA9238365 | NACC1 | c.947-33T>C (n.947-33T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136199T= | CA2323741366 | NACC1 | c.947-33T= (n.947-33T=)
| |
| 19 | g.13136199_13136200delinsTC | CA2323741367 | NACC1 | c.947-33_947-32delinsTC (n.947-33_947-32delinsTC)
| |
| 19 | g.13136200C= | CA2323741370 | NACC1 | c.947-32C= (n.947-32C=)
| |
| 19 | g.13136200C>T | CA9238366 | NACC1 | c.947-32C>T (n.947-32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136201del | CA783431714 | NACC1 | c.947-31del (n.947-31del)
| dbSNP |
| 19 | g.13136201C= | CA2323741372 | NACC1 | c.947-31C= (n.947-31C=)
| |
| 19 | g.13136201C>T | CA2323741373 | NACC1 | c.947-31C>T (n.947-31C>T)
| dbSNP gnomAD v4 |
| 19 | g.13136202T>G | CA9238367 | NACC1 | c.947-30T>G (n.947-30T>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136202T= | CA2323741374 | NACC1 | c.947-30T= (n.947-30T=)
| |
| 19 | g.13136203G>A | CA632122737 | NACC1 | c.947-29G>A (n.947-29G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136203G>C | CA632122738 | NACC1 | c.947-29G>C (n.947-29G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136203G= | CA2323741376 | NACC1 | c.947-29G= (n.947-29G=)
| |
| 19 | g.13136203G>T | CA2576641121 | NACC1 | c.947-29G>T (n.947-29G>T)
| |
| 19 | g.13136204C>A | CA2582801237 | NACC1 | c.947-28C>A (n.947-28C>A)
| gnomAD v4 |
| 19 | g.13136205C= | CA2323741378 | NACC1 | c.947-27C= (n.947-27C=)
| |
| 19 | g.13136205C>G | CA2323741379 | NACC1 | c.947-27C>G (n.947-27C>G)
| dbSNP |
| 19 | g.13136206A>G | CA657386118 | NACC1 | c.947-26A>G (n.947-26A>G)
| COSMIC |
| 19 | g.13136207C>T | CA2582801238 | NACC1 | c.947-25C>T (n.947-25C>T)
| gnomAD v4 |
| 19 | g.13136209C>A | CA2323741382 | NACC1 | c.947-23C>A (n.947-23C>A)
| dbSNP |
| 19 | g.13136209C= | CA2323741381 | NACC1 | c.947-23C= (n.947-23C=)
| |
| 19 | g.13136209C>G | CA305553530 | NACC1 | c.947-23C>G (n.947-23C>G)
| dbSNP |
| 19 | g.13136209C>T | CA9238368 | NACC1 | c.947-23C>T (n.947-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136210G>A | CA9238369 | NACC1 | c.947-22G>A (n.947-22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136210G= | CA2323741387 | NACC1 | c.947-22G= (n.947-22G=)
| |
| 19 | g.13136210G>T | CA2323741385 | NACC1 | c.947-22G>T (n.947-22G>T)
| dbSNP |
| 19 | g.13136210dup | CA2323741386 | NACC1 | c.947-22dup (n.947-22dup)
| dbSNP |
| 19 | g.13136211C>A | CA2582801239 | NACC1 | c.947-21C>A (n.947-21C>A)
| gnomAD v4 |
| 19 | g.13136211C= | CA2323741389 | NACC1 | c.947-21C= (n.947-21C=)
| |
| 19 | g.13136211C>G | CA2582801240 | NACC1 | c.947-21C>G (n.947-21C>G)
| gnomAD v4 |
| 19 | g.13136211C>T | CA305553548 | NACC1 | c.947-21C>T (n.947-21C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13136212G>A | CA9238370 | NACC1 | c.947-20G>A (n.947-20G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136212G= | CA2323741391 | NACC1 | c.947-20G= (n.947-20G=)
| |
| 19 | g.13136212G>T | CA9238371 | NACC1 | c.947-20G>T (n.947-20G>T)
| dbSNP ExAC gnomAD v2 |
| 19 | g.13136212_13136213insA | CA993703012 | NACC1 | c.947-20_947-19insA (n.947-20_947-19insA)
| gnomAD v3 gnomAD v4 |
| 19 | g.13136213_13136214insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC | CA993703013 | NACC1 | c.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC (n.947-19_947-18insCGAGCGCTTCGCCGTCGACCTCGCGCGTCATGGTGGTGTCGCACACGGTCGTATTCGCGTTC)
| gnomAD v3 gnomAD v4 |
| 19 | g.13136214G>A | CA2582801241 | NACC1 | c.947-18G>A (n.947-18G>A)
| gnomAD v4 |
| 19 | g.13136214G>C | CA2825002752 | NACC1 | c.947-18G>C (n.947-18G>C)
| ClinVar |
| 19 | g.13136214G>T | CA2582801242 | NACC1 | c.947-18G>T (n.947-18G>T)
| gnomAD v4 |
| 19 | g.13136216C= | CA2323741393 | NACC1 | c.947-16C= (n.947-16C=)
| |
| 19 | g.13136216C>G | CA2739276564 | NACC1 | c.947-16C>G (n.947-16C>G)
| ClinVar |
| 19 | g.13136216C>T | CA783431725 | NACC1 | c.947-16C>T (n.947-16C>T)
| dbSNP gnomAD v4 |
| 19 | g.13136217A>G | CA2582801243 | NACC1 | c.947-15A>G (n.947-15A>G)
| gnomAD v4 |
| 19 | g.13136217_13136219delinsACT | CA2323741394 | NACC1 | c.947-15_947-13delinsACT (n.947-15_947-13delinsACT)
| |
| 19 | g.13136217_13136218insGCGGCGG | CA993703015 | NACC1 | c.947-15_947-14insGCGGCGG (n.947-15_947-14insGCGGCGG)
| gnomAD v3 gnomAD v4 |
| 19 | g.13136218C= | CA2323741397 | NACC1 | c.947-14C= (n.947-14C=)
| |
| 19 | g.13136218C>G | CA9238373 | NACC1 | c.947-14C>G (n.947-14C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136218C>T | CA632122739 | NACC1 | c.947-14C>T (n.947-14C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136223_13136224del | CA9238372 | NACC1 | c.947-9_947-8del (n.947-9_947-8del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136219T>A | CA9238374 | NACC1 | c.947-13T>A (n.947-13T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136219T>C | CA2323741399 | NACC1 | c.947-13T>C (n.947-13T>C)
| dbSNP |
| 19 | g.13136219T= | CA2323741401 | NACC1 | c.947-13T= (n.947-13T=)
| |
| 19 | g.13136220_13136221insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC | CA993703017 | NACC1 | c.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC (n.947-12_947-11insGCCGGCGAGTGGCAACAATGCCGCAACGGCTGCGAAATACGGTGTTCCGCGC)
| gnomAD v3 gnomAD v4 |
| 19 | g.13136221T>C | CA2582801244 | NACC1 | c.947-11T>C (n.947-11T>C)
| gnomAD v4 |
| 19 | g.13136222C>A | CA9238375 | NACC1 | c.947-10C>A (n.947-10C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136222C= | CA2323741402 | NACC1 | c.947-10C= (n.947-10C=)
| |
| 19 | g.13136222C>T | CA632122740 | NACC1 | c.947-10C>T (n.947-10C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136223dup | CA2582801245 | NACC1 | c.947-9dup (n.947-9dup)
| gnomAD v4 |
| 19 | g.13136224C>A | CA632122742 | NACC1 | c.947-8C>A (n.947-8C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136224C= | CA2323741407 | NACC1 | c.947-8C= (n.947-8C=)
| |
| 19 | g.13136224C>T | CA632122741 | NACC1 | c.947-8C>T (n.947-8C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136225C>T | CA2582801246 | NACC1 | c.947-7C>T (n.947-7C>T)
| gnomAD v4 |
| 19 | g.13136226C>T | CA2576641122 | NACC1 | c.947-6C>T (n.947-6C>T)
| |
| 19 | g.13136227T>C | CA632122743 | NACC1 | c.947-5T>C (n.947-5T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136227T>G | CA2697556305 | NACC1 | c.947-5T>G (n.947-5T>G)
| ClinVar |
| 19 | g.13136227T= | CA2323741409 | NACC1 | c.947-5T= (n.947-5T=)
| |
| 19 | g.13136228G>A | CA783431736 | NACC1 | c.947-4G>A (n.947-4G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13136228G= | CA2323741410 | NACC1 | c.947-4G= (n.947-4G=)
| |
| 19 | g.13136229C>A | CA2582801247 | NACC1 | c.947-3C>A (n.947-3C>A)
| gnomAD v4 |
| 19 | g.13136229C= | CA2323741412 | NACC1 | c.947-3C= (n.947-3C=)
| |
| 19 | g.13136229C>T | CA2323741413 | NACC1 | c.947-3C>T (n.947-3C>T)
| dbSNP gnomAD v4 |
| 19 | g.13136230A>C | CA404327070 | NACC1 | c.947-2A>C (n.947-2A>C)
| |
| 19 | g.13136230A>G | CA404327067 | NACC1 | c.947-2A>G (n.947-2A>G)
| |
| 19 | g.13136230A>T | CA404327068 | NACC1 | c.947-2A>T (n.947-2A>T)
| |
| 19 | g.13136231G>A | CA404327072 | NACC1 | c.947-1G>A (n.947-1G>A)
| |
| 19 | g.13136231G>C | CA404327074 | NACC1 | c.947-1G>C (n.947-1G>C)
| gnomAD v4 |
| 19 | g.13136231G>T | CA404327076 | NACC1 | c.947-1G>T (n.947-1G>T)
| |
| 19 | g.13136232C>A | CA404327078 | NACC1 | c.947C>A (p.Ala316Asp)
| |
| 19 | g.13136232C= | CA2323741415 | NACC1 | c.947C= (p.Ala316=)
| |
| 19 | g.13136232C>G | CA404327080 | NACC1 | c.947C>G (p.Ala316Gly)
| |
| 19 | g.13136232C>T | CA9238376 | NACC1 | c.947C>T (p.Ala316Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136233C>A | CA505654063 | NACC1 | c.948C>A (p.Ala316=)
| |
| 19 | g.13136233C= | CA2323741420 | NACC1 | c.948C= (p.Ala316=)
| |
| 19 | g.13136233C>G | CA9238378 | NACC1 | c.948C>G (p.Ala316=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136233C>T | CA9238377 | NACC1 | c.948C>T (p.Ala316=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.13136234G>A | CA305553596 | NACC1 | c.949G>A (p.Glu317Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136234G>C | CA404327085 | NACC1 | c.949G>C (p.Glu317Gln)
| gnomAD v4 |
| 19 | g.13136234G= | CA2323741422 | NACC1 | c.949G= (p.Glu317=)
| |
| 19 | g.13136234G>T | CA404327087 | NACC1 | c.949G>T (p.Glu317Ter)
| |
| 19 | g.13136235A>C | CA404327091 | NACC1 | c.950A>C (p.Glu317Ala)
| |
| 19 | g.13136235A>G | CA404327093 | NACC1 | c.950A>G (p.Glu317Gly)
| |
| 19 | g.13136235A>T | CA404327089 | NACC1 | c.950A>T (p.Glu317Val)
| |
| 19 | g.13136236G>A | CA505654065 | NACC1 | c.951G>A (p.Glu317=)
| |
| 19 | g.13136236G>C | CA404327094 | NACC1 | c.951G>C (p.Glu317Asp)
| |
| 19 | g.13136236G>T | CA404327096 | NACC1 | c.951G>T (p.Glu317Asp)
| |
| 19 | g.13136237A>C | CA404327098 | NACC1 | c.952A>C (p.Lys318Gln)
| |
| 19 | g.13136237A>G | CA404327100 | NACC1 | c.952A>G (p.Lys318Glu)
| |
| 19 | g.13136237A>T | CA404327101 | NACC1 | c.952A>T (p.Lys318Ter)
| |
| 19 | g.13136238A>C | CA404327107 | NACC1 | c.953A>C (p.Lys318Thr)
| |
| 19 | g.13136238A>G | CA404327104 | NACC1 | c.953A>G (p.Lys318Arg)
| |
| 19 | g.13136238A>T | CA404327105 | NACC1 | c.953A>T (p.Lys318Met)
| |
| 19 | g.13136239G>A | CA505654067 | NACC1 | c.954G>A (p.Lys318=)
| gnomAD v4 |
| 19 | g.13136239G>C | CA404327109 | NACC1 | c.954G>C (p.Lys318Asn)
| |
| 19 | g.13136239G>T | CA404327111 | NACC1 | c.954G>T (p.Lys318Asn)
| |
| 19 | g.13136240G>A | CA404327113 | NACC1 | c.955G>A (p.Val319Met)
| |
| 19 | g.13136240G>C | CA404327114 | NACC1 | c.955G>C (p.Val319Leu)
| |
| 19 | g.13136240G= | CA2323741424 | NACC1 | c.955G= (p.Val319=)
| |
| 19 | g.13136240G>T | CA404327116 | NACC1 | c.955G>T (p.Val319Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136241T>A | CA404327118 | NACC1 | c.956T>A (p.Val319Glu)
| |
| 19 | g.13136241T>C | CA404327121 | NACC1 | c.956T>C (p.Val319Ala)
| COSMIC |
| 19 | g.13136241T>G | CA404327120 | NACC1 | c.956T>G (p.Val319Gly)
| |
| 19 | g.13136242G>A | CA505654071 | NACC1 | c.957G>A (p.Val319=)
| dbSNP |
| 19 | g.13136242G>C | CA505654069 | NACC1 | c.957G>C (p.Val319=)
| |
| 19 | g.13136242G>T | CA505654070 | NACC1 | c.957G>T (p.Val319=)
| |
| 19 | g.13136243G>A | CA404327122 | NACC1 | c.958G>A (p.Glu320Lys)
| ClinVar dbSNP |
| 19 | g.13136243G>C | CA404327125 | NACC1 | c.958G>C (p.Glu320Gln)
| |
| 19 | g.13136243G>T | CA404327124 | NACC1 | c.958G>T (p.Glu320Ter)
| |
| 19 | g.13136244A>C | CA404327128 | NACC1 | c.959A>C (p.Glu320Ala)
| |
| 19 | g.13136244A>G | CA404327129 | NACC1 | c.959A>G (p.Glu320Gly)
| gnomAD v4 |
| 19 | g.13136244A>T | CA404327130 | NACC1 | c.959A>T (p.Glu320Val)
| |
| 19 | g.13136245G>A | CA505654072 | NACC1 | c.960G>A (p.Glu320=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136245G>C | CA404327132 | NACC1 | c.960G>C (p.Glu320Asp)
| |
| 19 | g.13136245G= | CA2323741426 | NACC1 | c.960G= (p.Glu320=)
| |
| 19 | g.13136245G>T | CA404327134 | NACC1 | c.960G>T (p.Glu320Asp)
| gnomAD v4 |
| 19 | g.13136246G>A | CA404327135 | NACC1 | c.961G>A (p.Ala321Thr)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.13136246G>C | CA404327137 | NACC1 | c.961G>C (p.Ala321Pro)
| |
| 19 | g.13136246G>T | CA404327139 | NACC1 | c.961G>T (p.Ala321Ser)
| |
| 19 | g.13136247C>A | CA404327142 | NACC1 | c.962C>A (p.Ala321Asp)
| gnomAD v4 |
| 19 | g.13136247C>G | CA404327143 | NACC1 | c.962C>G (p.Ala321Gly)
| |
| 19 | g.13136247C>T | CA404327145 | NACC1 | c.962C>T (p.Ala321Val)
| |
| 19 | g.13136248C>A | CA505654074 | NACC1 | c.963C>A (p.Ala321=)
| |
| 19 | g.13136248C= | CA2323741428 | NACC1 | c.963C= (p.Ala321=)
| |
| 19 | g.13136248C>G | CA505654076 | NACC1 | c.963C>G (p.Ala321=)
| gnomAD v4 |
| 19 | g.13136248C>T | CA305553602 | NACC1 | c.963C>T (p.Ala321=)
| dbSNP gnomAD v4 |
| 19 | g.13136249C>A | CA404327148 | NACC1 | c.964C>A (p.Leu322Ile)
| |
| 19 | g.13136249C= | CA2323741430 | NACC1 | c.964C= (p.Leu322=)
| |
| 19 | g.13136249C>G | CA404327151 | NACC1 | c.964C>G (p.Leu322Val)
| |
| 19 | g.13136249C>T | CA9238379 | NACC1 | c.964C>T (p.Leu322Phe)
| dbSNP ExAC gnomAD v2 |
| 19 | g.13136250T>A | CA404327153 | NACC1 | c.965T>A (p.Leu322His)
| |
| 19 | g.13136250T>C | CA404327154 | NACC1 | c.965T>C (p.Leu322Pro)
| |
| 19 | g.13136250T>G | CA404327156 | NACC1 | c.965T>G (p.Leu322Arg)
| |
| 19 | g.13136251C>A | CA505654080 | NACC1 | c.966C>A (p.Leu322=)
| |
| 19 | g.13136251C= | CA2323741432 | NACC1 | c.966C= (p.Leu322=)
| |
| 19 | g.13136251C>G | CA505654082 | NACC1 | c.966C>G (p.Leu322=)
| |
| 19 | g.13136251C>T | CA505654078 | NACC1 | c.966C>T (p.Leu322=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136252C>A | CA404327158 | NACC1 | c.967C>A (p.Pro323Thr)
| |
| 19 | g.13136252C= | CA2323741434 | NACC1 | c.967C= (p.Pro323=)
| |
| 19 | g.13136252C>G | CA404327160 | NACC1 | c.967C>G (p.Pro323Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136252C>T | CA404327161 | NACC1 | c.967C>T (p.Pro323Ser)
| |
| 19 | g.13136253C>A | CA404327163 | NACC1 | c.968C>A (p.Pro323Gln)
| gnomAD v4 |
| 19 | g.13136253C= | CA2323741436 | NACC1 | c.968C= (p.Pro323=)
| |
| 19 | g.13136253C>G | CA404327164 | NACC1 | c.968C>G (p.Pro323Arg)
| |
| 19 | g.13136253C>T | CA404327166 | NACC1 | c.968C>T (p.Pro323Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.13136254G>A | CA9238380 | NACC1 | c.969G>A (p.Pro323=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136254G>C | CA505654086 | NACC1 | c.969G>C (p.Pro323=)
| dbSNP gnomAD v4 |
| 19 | g.13136254G= | CA2323741438 | NACC1 | c.969G= (p.Pro323=)
| |
| 19 | g.13136254G>T | CA505654087 | NACC1 | c.969G>T (p.Pro323=)
| |
| 19 | g.13136255G>A | CA404327171 | NACC1 | c.970G>A (p.Glu324Lys)
| |
| 19 | g.13136255G>C | CA404327172 | NACC1 | c.970G>C (p.Glu324Gln)
| |
| 19 | g.13136255G>T | CA404327169 | NACC1 | c.970G>T (p.Glu324Ter)
| |
| 19 | g.13136256A>C | CA404327174 | NACC1 | c.971A>C (p.Glu324Ala)
| |
| 19 | g.13136256A>G | CA404327176 | NACC1 | c.971A>G (p.Glu324Gly)
| gnomAD v4 |
| 19 | g.13136256A>T | CA404327178 | NACC1 | c.971A>T (p.Glu324Val)
| |
| 19 | g.13136257G>A | CA505654089 | NACC1 | c.972G>A (p.Glu324=)
| gnomAD v4 |
| 19 | g.13136257G>C | CA404327180 | NACC1 | c.972G>C (p.Glu324Asp)
| |
| 19 | g.13136257G>T | CA404327182 | NACC1 | c.972G>T (p.Glu324Asp)
| |
| 19 | g.13136258C>A | CA404327184 | NACC1 | c.973C>A (p.Gln325Lys)
| |
| 19 | g.13136258C>G | CA404327185 | NACC1 | c.973C>G (p.Gln325Glu)
| |
| 19 | g.13136258C>T | CA404327186 | NACC1 | c.973C>T (p.Gln325Ter)
| |
| 19 | g.13136259A>C | CA404327188 | NACC1 | c.974A>C (p.Gln325Pro)
| |
| 19 | g.13136259A>G | CA404327190 | NACC1 | c.974A>G (p.Gln325Arg)
| |
| 19 | g.13136259A>T | CA404327191 | NACC1 | c.974A>T (p.Gln325Leu)
| gnomAD v4 |
| 19 | g.13136260G>A | CA505654090 | NACC1 | c.975G>A (p.Gln325=)
| |
| 19 | g.13136260G>C | CA404327193 | NACC1 | c.975G>C (p.Gln325His)
| |
| 19 | g.13136260G>T | CA404327195 | NACC1 | c.975G>T (p.Gln325His)
| |
| 19 | g.13136261G>A | CA305553613 | NACC1 | c.976G>A (p.Val326Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136261G>C | CA404327197 | NACC1 | c.976G>C (p.Val326Leu)
| |
| 19 | g.13136261G= | CA2323741440 | NACC1 | c.976G= (p.Val326=)
| |
| 19 | g.13136261G>T | CA404327196 | NACC1 | c.976G>T (p.Val326Leu)
| |
| 19 | g.13136262T>A | CA404327200 | NACC1 | c.977T>A (p.Val326Glu)
| |
| 19 | g.13136262T>C | CA404327201 | NACC1 | c.977T>C (p.Val326Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136262T>G | CA404327203 | NACC1 | c.977T>G (p.Val326Gly)
| |
| 19 | g.13136262T= | CA2323741442 | NACC1 | c.977T= (p.Val326=)
| |
| 19 | g.13136263A>C | CA505654094 | NACC1 | c.978A>C (p.Val326=)
| |
| 19 | g.13136263A>G | CA505654095 | NACC1 | c.978A>G (p.Val326=)
| gnomAD v3 gnomAD v4 |
| 19 | g.13136263A>T | CA505654096 | NACC1 | c.978A>T (p.Val326=)
| |
| 19 | g.13136264G>A | CA9238381 | NACC1 | c.979G>A (p.Ala327Thr)
| dbSNP ExAC gnomAD v2 |
| 19 | g.13136264G>C | CA305553621 | NACC1 | c.979G>C (p.Ala327Pro)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.13136264G= | CA2323741444 | NACC1 | c.979G= (p.Ala327=)
| |
| 19 | g.13136264G>T | CA404327206 | NACC1 | c.979G>T (p.Ala327Ser)
| |
| 19 | g.13136265C>A | CA404327209 | NACC1 | c.980C>A (p.Ala327Asp)
| |
| 19 | g.13136265C>G | CA404327211 | NACC1 | c.980C>G (p.Ala327Gly)
| |
| 19 | g.13136265C>T | CA404327212 | NACC1 | c.980C>T (p.Ala327Val)
| |
| 19 | g.13136269del | CA2582801248 | NACC1 | c.984del (p.Glu329SerfsTer?)
| gnomAD v4 |
| 19 | g.13136266C>A | CA505654100 | NACC1 | c.981C>A (p.Ala327=)
| |
| 19 | g.13136266C>G | CA505654101 | NACC1 | c.981C>G (p.Ala327=)
| |
| 19 | g.13136266C>T | CA505654102 | NACC1 | c.981C>T (p.Ala327=)
| gnomAD v4 |
| 19 | g.13136267C>A | CA404327214 | NACC1 | c.982C>A (p.Pro328Thr)
| |
| 19 | g.13136267C= | CA2323741446 | NACC1 | c.982C= (p.Pro328=)
| |
| 19 | g.13136267C>G | CA9238382 | NACC1 | c.982C>G (p.Pro328Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136267C>T | CA404327216 | NACC1 | c.982C>T (p.Pro328Ser)
| gnomAD v4 |
| 19 | g.13136268C>A | CA404327219 | NACC1 | c.983C>A (p.Pro328His)
| |
| 19 | g.13136268C= | CA2323741792 | NACC1 | c.983C= (p.Pro328=)
| |
| 19 | g.13136268C>G | CA404327220 | NACC1 | c.983C>G (p.Pro328Arg)
| |
| 19 | g.13136268C>T | CA9238383 | NACC1 | c.983C>T (p.Pro328Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136269C>A | CA505654104 | NACC1 | c.984C>A (p.Pro328=)
| ClinVar |
| 19 | g.13136269C= | CA2323741793 | NACC1 | c.984C= (p.Pro328=)
| |
| 19 | g.13136269C>G | CA505654105 | NACC1 | c.984C>G (p.Pro328=)
| |
| 19 | g.13136269C>T | CA9238384 | NACC1 | c.984C>T (p.Pro328=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136270G>A | CA404327225 | NACC1 | c.985G>A (p.Glu329Lys)
| gnomAD v4 |
| 19 | g.13136270G>C | CA404327222 | NACC1 | c.985G>C (p.Glu329Gln)
| |
| 19 | g.13136270G>T | CA404327224 | NACC1 | c.985G>T (p.Glu329Ter)
| |
| 19 | g.13136271A>C | CA404327227 | NACC1 | c.986A>C (p.Glu329Ala)
| |
| 19 | g.13136271A>G | CA404327229 | NACC1 | c.986A>G (p.Glu329Gly)
| |
| 19 | g.13136271A>T | CA404327230 | NACC1 | c.986A>T (p.Glu329Val)
| |
| 19 | g.13136272G>A | CA505654107 | NACC1 | c.987G>A (p.Glu329=)
| gnomAD v4 |
| 19 | g.13136272G>C | CA404327231 | NACC1 | c.987G>C (p.Glu329Asp)
| |
| 19 | g.13136272G>T | CA404327232 | NACC1 | c.987G>T (p.Glu329Asp)
| |
| 19 | g.13136273T>A | CA404327233 | NACC1 | c.988T>A (p.Ser330Thr)
| |
| 19 | g.13136273T>C | CA404327234 | NACC1 | c.988T>C (p.Ser330Pro)
| |
| 19 | g.13136273T>G | CA404327235 | NACC1 | c.988T>G (p.Ser330Ala)
| |
| 19 | g.13136274C>A | CA404327236 | NACC1 | c.989C>A (p.Ser330Tyr)
| gnomAD v4 |
| 19 | g.13136274C>G | CA404327237 | NACC1 | c.989C>G (p.Ser330Cys)
| |
| 19 | g.13136274C>T | CA404327239 | NACC1 | c.989C>T (p.Ser330Phe)
| |
| 19 | g.13136275C>A | CA505654109 | NACC1 | c.990C>A (p.Ser330=)
| |
| 19 | g.13136275C>G | CA505654110 | NACC1 | c.990C>G (p.Ser330=)
| |
| 19 | g.13136275C>T | CA505654111 | NACC1 | c.990C>T (p.Ser330=)
| |
| 19 | g.13136276C>A | CA505654113 | NACC1 | c.991C>A (p.Arg331=)
| |
| 19 | g.13136276C>G | CA404327241 | NACC1 | c.991C>G (p.Arg331Gly)
| |
| 19 | g.13136276C>T | CA404327243 | NACC1 | c.991C>T (p.Arg331Ter)
| ClinVar gnomAD v4 |
| 19 | g.13136277G>A | CA9238385 | NACC1 | c.992G>A (p.Arg331Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.13136277G>C | CA404327246 | NACC1 | c.992G>C (p.Arg331Pro)
| |
| 19 | g.13136277G= | CA2323741794 | NACC1 | c.992G= (p.Arg331=)
| |
| 19 | g.13136277G>T | CA404327248 | NACC1 | c.992G>T (p.Arg331Leu)
| dbSNP |
| 19 | g.13136278A= | CA2323741795 | NACC1 | c.993A= (p.Arg331=)
| |
| 19 | g.13136278A>C | CA505654114 | NACC1 | c.993A>C (p.Arg331=)
| |
| 19 | g.13136278A>G | CA9238386 | NACC1 | c.993A>G (p.Arg331=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136278A>T | CA505654116 | NACC1 | c.993A>T (p.Arg331=)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136279A>C | CA404327251 | NACC1 | c.994A>C (p.Asn332His)
| |
| 19 | g.13136279A>G | CA404327253 | NACC1 | c.994A>G (p.Asn332Asp)
| |
| 19 | g.13136279A>T | CA404327254 | NACC1 | c.994A>T (p.Asn332Tyr)
| |
| 19 | g.13136280A= | CA2323741796 | NACC1 | c.995A= (p.Asn332=)
| |
| 19 | g.13136280A>C | CA404327256 | NACC1 | c.995A>C (p.Asn332Thr)
| |
| 19 | g.13136280A>G | CA404327258 | NACC1 | c.995A>G (p.Asn332Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136280A>T | CA404327260 | NACC1 | c.995A>T (p.Asn332Ile)
| |
| 19 | g.13136281T>A | CA404327261 | NACC1 | c.996T>A (p.Asn332Lys)
| |
| 19 | g.13136281T>C | CA505654117 | NACC1 | c.996T>C (p.Asn332=)
| gnomAD v4 |
| 19 | g.13136281T>G | CA404327263 | NACC1 | c.996T>G (p.Asn332Lys)
| |
| 19 | g.13136282C>A | CA404327268 | NACC1 | c.997C>A (p.Arg333Ser)
| |
| 19 | g.13136282C= | CA2323741797 | NACC1 | c.997C= (p.Arg333=)
| |
| 19 | g.13136282C>G | CA404327266 | NACC1 | c.997C>G (p.Arg333Gly)
| gnomAD v4 |
| 19 | g.13136282C>T | CA9238387 | NACC1 | c.997C>T (p.Arg333Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136283G>A | CA404327273 | NACC1 | c.998G>A (p.Arg333His)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.13136283G>C | CA404327270 | NACC1 | c.998G>C (p.Arg333Pro)
| |
| 19 | g.13136283G>T | CA404327272 | NACC1 | c.998G>T (p.Arg333Leu)
| |
| 19 | g.13136286_13136298del | CA2576641123 | NACC1 | c.1001_1013del (p.Ile334LysfsTer?)
| |
| 19 | g.13136284C>A | CA505654119 | NACC1 | c.999C>A (p.Arg333=)
| |
| 19 | g.13136284C>G | CA505654121 | NACC1 | c.999C>G (p.Arg333=)
| |
| 19 | g.13136284C>T | CA505654120 | NACC1 | c.999C>T (p.Arg333=)
| |
| 19 | g.13136285A= | CA2323741798 | NACC1 | c.1000A= (p.Ile334=)
| |
| 19 | g.13136285A>C | CA404327276 | NACC1 | c.1000A>C (p.Ile334Leu)
| |
| 19 | g.13136285A>G | CA404327278 | NACC1 | c.1000A>G (p.Ile334Val)
| ClinVar dbSNP gnomAD v4 |
| 19 | g.13136285A>T | CA404327279 | NACC1 | c.1000A>T (p.Ile334Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.13136286T>A | CA404327284 | NACC1 | c.1001T>A (p.Ile334Asn)
| |
| 19 | g.13136286T>C | CA404327282 | NACC1 | c.1001T>C (p.Ile334Thr)
| |
| 19 | g.13136286T>G | CA404327281 | NACC1 | c.1001T>G (p.Ile334Ser)
| |
| 19 | g.13136287C>A | CA505654123 | NACC1 | c.1002C>A (p.Ile334=)
| |
| 19 | g.13136287C>G | CA404327286 | NACC1 | c.1002C>G (p.Ile334Met)
| |
| 19 | g.13136287C>T | CA505654122 | NACC1 | c.1002C>T (p.Ile334=)
| |
| 19 | g.13136288C>A | CA505654124 | NACC1 | c.1003C>A (p.Arg335=)
| ClinVar gnomAD v4 |
| 19 | g.13136288C= | CA2323741799 | NACC1 | c.1003C= (p.Arg335=)
| |
| 19 | g.13136288C>G | CA404327288 | NACC1 | c.1003C>G (p.Arg335Gly)
| |
| 19 | g.13136288C>T | CA404327290 | NACC1 | c.1003C>T (p.Arg335Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.13136289G>A | CA404327292 | NACC1 | c.1004G>A (p.Arg335Gln)
| ClinVar dbSNP |
| 19 | g.13136289G>C | CA404327294 | NACC1 | c.1004G>C (p.Arg335Pro)
| |
| 19 | g.13136289G= | CA2323741800 | NACC1 | c.1004G= (p.Arg335=)
| |
| 19 | g.13136289G>T | CA404327295 | NACC1 | c.1004G>T (p.Arg335Leu)
| |
| 19 | g.13136290G>A | CA505654125 | NACC1 | c.1005G>A (p.Arg335=)
| dbSNP |
| 19 | g.13136290G>C | CA505654127 | NACC1 | c.1005G>C (p.Arg335=)
| |
| 19 | g.13136290G= | CA2323741801 | NACC1 | c.1005G= (p.Arg335=)
| |
| 19 | g.13136290G>T | CA505654126 | NACC1 | c.1005G>T (p.Arg335=)
| |
| 19 | g.13136291G>A | CA404327298 | NACC1 | c.1006G>A (p.Val336Ile)
| gnomAD v4 |
| 19 | g.13136291G>C | CA404327301 | NACC1 | c.1006G>C (p.Val336Leu)
| |
| 19 | g.13136291G>T | CA404327299 | NACC1 | c.1006G>T (p.Val336Phe)
| |
| 19 | g.13136292T>A | CA404327302 | NACC1 | c.1007T>A (p.Val336Asp)
| |
| 19 | g.13136292T>C | CA404327304 | NACC1 | c.1007T>C (p.Val336Ala)
| |
| 19 | g.13136292T>G | CA404327306 | NACC1 | c.1007T>G (p.Val336Gly)
| |
| 19 | g.13136293T>A | CA505654128 | NACC1 | c.1008T>A (p.Val336=)
| |
| 19 | g.13136293T>C | CA505654129 | NACC1 | c.1008T>C (p.Val336=)
| |
| 19 | g.13136293T>G | CA505654131 | NACC1 | c.1008T>G (p.Val336=)
| gnomAD v4 |
