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.13136153G>A | CA404327018 | NACC1 | c.946G>A (p.Ala316Thr)
| |
19 | g.13136153G>C | CA404327020 | NACC1 | c.946G>C (p.Ala316Pro)
| |
19 | g.13136153G>T | CA404327016 | NACC1 | c.946G>T (p.Ala316Ser)
| |
19 | g.13136154G>A | CA404327023 | NACC1 | c.946+1G>A (n.946+1G>A)
| |
19 | g.13136154G>C | CA404327021 | NACC1 | c.946+1G>C (n.946+1G>C)
| |
19 | g.13136154G>T | CA404327025 | NACC1 | c.946+1G>T (n.946+1G>T)
| |
19 | g.13136155T>A | CA404327027 | NACC1 | c.946+2T>A (n.946+2T>A)
| |
19 | g.13136155T>C | CA404327030 | NACC1 | c.946+2T>C (n.946+2T>C)
| dbSNP |
19 | g.13136155T>G | CA404327029 | NACC1 | c.946+2T>G (n.946+2T>G)
| dbSNP |
19 | g.13136155T= | CA2323741760 | NACC1 | c.946+2T= (n.946+2T=)
| |
19 | g.13136156G>A | CA9238346 | NACC1 | c.946+3G>A (n.946+3G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136156G= | CA2323741761 | NACC1 | c.946+3G= (n.946+3G=)
| |
19 | g.13136158G>A | CA9238347 | NACC1 | c.946+5G>A (n.946+5G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136158G= | CA2323741762 | NACC1 | c.946+5G= (n.946+5G=)
| |
19 | g.13136160T>G | CA2323741764 | NACC1 | c.946+7T>G (n.946+7T>G)
| dbSNP |
19 | g.13136160T= | CA2323741763 | NACC1 | c.946+7T= (n.946+7T=)
| |
19 | g.13136160_13136163dup | CA2582801224 | NACC1 | c.946+7_946+10dup (n.946+7_946+10dup)
| gnomAD v4 |
19 | g.13136161G>A | CA2576641115 | NACC1 | c.946+8G>A (n.946+8G>A)
| |
19 | g.13136161G>T | CA2582801225 | NACC1 | c.946+8G>T (n.946+8G>T)
| gnomAD v4 |
19 | g.13136162C>A | CA2582801226 | NACC1 | c.946+9C>A (n.946+9C>A)
| gnomAD v4 |
19 | g.13136163C= | CA2323741765 | NACC1 | c.946+10C= (n.946+10C=)
| |
19 | g.13136163C>G | CA2323741766 | NACC1 | c.946+10C>G (n.946+10C>G)
| ClinVar dbSNP |
19 | g.13136163C>T | CA9238348 | NACC1 | c.946+10C>T (n.946+10C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136164G>A | CA9238349 | NACC1 | c.946+11G>A (n.946+11G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136164G= | CA2323741767 | NACC1 | c.946+11G= (n.946+11G=)
| |
19 | g.13136165T>C | CA2735825330 | NACC1 | c.946+12T>C (n.946+12T>C)
| dbSNP |
19 | g.13136166C= | CA2323741768 | NACC1 | c.946+13C= (n.946+13C=)
| |
19 | g.13136166C>G | CA783431681 | NACC1 | c.946+13C>G (n.946+13C>G)
| dbSNP |
19 | g.13136166C>T | CA2576641116 | NACC1 | c.946+13C>T (n.946+13C>T)
| |
19 | g.13136168T>C | CA2813661094 | NACC1 | c.946+15T>C (n.946+15T>C)
| |
19 | g.13136169G>A | CA2576641117 | NACC1 | c.946+16G>A (n.946+16G>A)
| dbSNP |
19 | g.13136169_13136170delinsGT | CA2323741769 | NACC1 | c.946+16_946+17delinsGT (n.946+16_946+17delinsGT)
| |
19 | g.13136170del | CA9238350 | NACC1 | c.946+17del (n.946+17del)
| dbSNP ExAC |
19 | g.13136170T>C | CA9238351 | NACC1 | c.946+17T>C (n.946+17T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136170T= | CA2323741770 | NACC1 | c.946+17T= (n.946+17T=)
| |
19 | g.13136171C>A | CA2582801228 | NACC1 | c.946+18C>A (n.946+18C>A)
| gnomAD v4 |
19 | g.13136171C>T | CA2576641118 | NACC1 | c.946+18C>T (n.946+18C>T)
| gnomAD v4 |
19 | g.13136175del | CA2582801227 | NACC1 | c.946+22del (n.946+22del)
| gnomAD v4 |
19 | g.13136172C>T | CA2582801229 | NACC1 | c.946+19C>T (n.946+19C>T)
| gnomAD v4 |
19 | g.13136173C= | CA2323741771 | NACC1 | c.946+20C= (n.946+20C=)
| |
19 | g.13136173C>G | CA632122550 | NACC1 | c.946+20C>G (n.946+20C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136173C>T | CA9238352 | NACC1 | c.946+20C>T (n.946+20C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136175C>A | CA2582801230 | NACC1 | c.946+22C>A (n.946+22C>A)
| gnomAD v4 |
19 | g.13136175_13136199delinsCATCCCACCAGCCACCCCTGCTCCT | CA2323741772 | NACC1 | c.946+22_947-33delinsCATCCCACCAGCCACCCCTGCTCCT (n.946+22_947-33delinsCATCCCACCAGCCACCCCTGCTCCT)
| |
19 | g.13136176A>G | CA2576641119 | NACC1 | c.946+23A>G (n.946+23A>G)
| |
19 | g.13136176_13136199del | CA9238353 | NACC1 | c.946+23_947-33del (n.946+23_947-33del)
| dbSNP ExAC |
19 | g.13136177T>C | CA9238354 | NACC1 | c.946+24T>C (n.946+24T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136177T= | CA2323741773 | NACC1 | c.946+24T= (n.946+24T=)
| |
19 | g.13136178C>A | CA9238355 | NACC1 | c.946+25C>A (n.946+25C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136178C= | CA2323741774 | NACC1 | c.946+25C= (n.946+25C=)
| |
19 | g.13136179C= | CA2323741775 | NACC1 | c.946+26C= (n.946+26C=)
| |
19 | g.13136179C>T | CA632122734 | NACC1 | c.946+26C>T (n.946+26C>T)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.13136180C>A | CA2582801231 | NACC1 | c.946+27C>A (n.946+27C>A)
| gnomAD v4 |
19 | g.13136180C>G | CA2582801232 | NACC1 | c.946+27C>G (n.946+27C>G)
| gnomAD v4 |
19 | g.13136180_13136181delinsCA | CA2323741776 | NACC1 | c.946+27_946+28delinsCA (n.946+27_946+28delinsCA)
| |
19 | g.13136181del | CA305553453 | NACC1 | c.946+28del (n.946+28del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136181A= | CA2323741777 | NACC1 | c.946+28A= (n.946+28A=)
| |
19 | g.13136181A>C | CA9238356 | NACC1 | c.946+28A>C (n.946+28A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136181A>G | CA305553452 | NACC1 | c.946+28A>G (n.946+28A>G)
| dbSNP gnomAD v4 |
19 | g.13136184dup | CA2582801233 | NACC1 | c.946+31dup (n.946+31dup)
| gnomAD v4 |
19 | g.13136185G>A | CA783431694 | NACC1 | c.946+32G>A (n.946+32G>A)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.13136185G= | CA2323741778 | NACC1 | c.946+32G= (n.946+32G=)
| |
19 | g.13136186C>A | CA2582801234 | NACC1 | c.946+33C>A (n.946+33C>A)
| gnomAD v4 |
19 | g.13136187_13136188delinsCA | CA2323741779 | NACC1 | c.946+34_946+35delinsCA (n.946+34_946+35delinsCA)
| |
19 | g.13136188del | CA9238357 | NACC1 | c.946+35del (n.946+35del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.13136188A= | CA2323741780 | NACC1 | c.946+35A= (n.946+35A=)
| |
19 | g.13136188A>C | CA9238358 | NACC1 | c.946+35A>C (n.946+35A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136189C= | CA2323741781 | NACC1 | c.946+36C= (n.946+36C=)
| |
19 | g.13136189C>G | CA2582801235 | NACC1 | c.946+36C>G (n.946+36C>G)
| gnomAD v4 |
19 | g.13136189C>T | CA9238359 | NACC1 | c.946+36C>T (n.946+36C>T)
| dbSNP ExAC gnomAD v4 |
19 | g.13136191C= | CA2323741782 | NACC1 | c.946+38C= (n.946+38C=)
| |
19 | g.13136191C>T | CA9238361 | NACC1 | c.946+38C>T (n.946+38C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.13136191_13136199delinsCCTGCTCCT | CA2323741783 | NACC1 | c.946+38_947-33delinsCCTGCTCCT (n.946+38_947-33delinsCCTGCTCCT)
| |
19 | g.13136192C= | CA2323741786 | NACC1 | c.947-40C= (n.947-40C=)
| |
19 | g.13136192C>G | CA632122735 | NACC1 | c.947-40C>G (n.947-40C>G)
| dbSNP gnomAD v2 gnomAD v4 |
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 |