2 | g.96293089A= | CA1272543501 | SNRNP200 | c.2043T= (p.Arg681=)
| |
2 | g.96293089A>C | CA427500169 | SNRNP200 | c.2043T>G (p.Arg681=)
| |
2 | g.96293089A>G | CA1778782 | SNRNP200 | c.2043T>C (p.Arg681=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96293089A>T | CA427500170 | SNRNP200 | c.2043T>A (p.Arg681=)
| |
2 | g.96293090C>A | CA347679554 | SNRNP200 | c.2042G>T (p.Arg681Leu)
| ClinVar dbSNP |
2 | g.96293090C= | CA1272543502 | SNRNP200 | c.2042G= (p.Arg681=)
| |
2 | g.96293090C>G | CA347679556 | SNRNP200 | c.2042G>C (p.Arg681Pro)
| |
2 | g.96293090C>T | CA270107 | SNRNP200 | c.2042G>A (p.Arg681His)
| ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.96293091G>A | CA52399864 | SNRNP200 | c.2041C>T (p.Arg681Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96293091G>C | CA347679560 | SNRNP200 | c.2041C>G (p.Arg681Gly)
| |
2 | g.96293091G= | CA1272543503 | SNRNP200 | c.2041C= (p.Arg681=)
| |
2 | g.96293091G>T | CA347679558 | SNRNP200 | c.2041C>A (p.Arg681Ser)
| |
2 | g.96293092del | CA2751317105 | SNRNP200 | c.2041del (p.Arg681ValfsTer24)
| |
2 | g.96293092G>A | CA52399865 | SNRNP200 | c.2040C>T (p.Phe680=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96293092G>C | CA347679562 | SNRNP200 | c.2040C>G (p.Phe680Leu)
| gnomAD v4 |
2 | g.96293092G= | CA1272543504 | SNRNP200 | c.2040C= (p.Phe680=)
| |
2 | g.96293092G>T | CA347679564 | SNRNP200 | c.2040C>A (p.Phe680Leu)
| |
2 | g.96293093A>C | CA347679568 | SNRNP200 | c.2039T>G (p.Phe680Cys)
| |
2 | g.96293093A>G | CA347679569 | SNRNP200 | c.2039T>C (p.Phe680Ser)
| |
2 | g.96293093A>T | CA347679572 | SNRNP200 | c.2039T>A (p.Phe680Tyr)
| |
2 | g.96293094A>C | CA347679574 | SNRNP200 | c.2038T>G (p.Phe680Val)
| |
2 | g.96293094A>G | CA347679577 | SNRNP200 | c.2038T>C (p.Phe680Leu)
| |
2 | g.96293094A>T | CA347679580 | SNRNP200 | c.2038T>A (p.Phe680Ile)
| |
2 | g.96293095G>A | CA427500174 | SNRNP200 | c.2037C>T (p.Ser679=)
| |
2 | g.96293095G>C | CA347679583 | SNRNP200 | c.2037C>G (p.Ser679Arg)
| |
2 | g.96293095G>T | CA347679585 | SNRNP200 | c.2037C>A (p.Ser679Arg)
| |
2 | g.96293096C>A | CA347679593 | SNRNP200 | c.2037-1G>T (n.2037-1G>T)
| |
2 | g.96293096C>G | CA347679591 | SNRNP200 | c.2037-1G>C (n.2037-1G>C)
| |
2 | g.96293096C>T | CA347679588 | SNRNP200 | c.2037-1G>A (n.2037-1G>A)
| |
2 | g.96293097T>A | CA347679595 | SNRNP200 | c.2037-2A>T (n.2037-2A>T)
| |
2 | g.96293097T>C | CA347679598 | SNRNP200 | c.2037-2A>G (n.2037-2A>G)
| |
2 | g.96293097T>G | CA347679600 | SNRNP200 | c.2037-2A>C (n.2037-2A>C)
| |
2 | g.96293100_96293102del | CA427500176 | SNRNP200 | c.2037-5_2037-3del (n.2037-5_2037-3del)
| |
2 | g.96293099G>A | CA1272543506 | SNRNP200 | c.2037-4C>T (n.2037-4C>T)
| dbSNP |
2 | g.96293099G>C | CA534376450 | SNRNP200 | c.2037-4C>G (n.2037-4C>G)
| dbSNP gnomAD v2 |
2 | g.96293099G= | CA1272543505 | SNRNP200 | c.2037-4C= (n.2037-4C=)
| |
2 | g.96293099G>T | CA2660186180 | SNRNP200 | c.2037-4C>A (n.2037-4C>A)
| gnomAD v4 |
2 | g.96293103T>A | CA2660186181 | SNRNP200 | c.2037-8A>T (n.2037-8A>T)
| gnomAD v4 |
2 | g.96293103_96293106del | CA2751317109 | SNRNP200 | c.2037-11_2037-8del (n.2037-11_2037-8del)
| |
2 | g.96293104_96293138dup | CA2660186183 | SNRNP200 | c.2037-42_2037-8dup (n.2037-42_2037-8dup)
| gnomAD v4 |
2 | g.96293104T>C | CA2660186184 | SNRNP200 | c.2037-9A>G (n.2037-9A>G)
| gnomAD v4 |
2 | g.96293105C= | CA1272543507 | SNRNP200 | c.2037-10G= (n.2037-10G=)
| |
2 | g.96293105C>G | CA534376451 | SNRNP200 | c.2037-10G>C (n.2037-10G>C)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.96293105C>T | CA2660186185 | SNRNP200 | c.2037-10G>A (n.2037-10G>A)
| gnomAD v4 |
2 | g.96293108C>A | CA534376452 | SNRNP200 | c.2037-13G>T (n.2037-13G>T)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.96293108C= | CA1272543508 | SNRNP200 | c.2037-13G= (n.2037-13G=)
| |
2 | g.96293108C>G | CA1272543509 | SNRNP200 | c.2037-13G>C (n.2037-13G>C)
| dbSNP gnomAD v4 |
2 | g.96293108C>T | CA1272543510 | SNRNP200 | c.2037-13G>A (n.2037-13G>A)
| dbSNP gnomAD v4 |
2 | g.96293109A>G | CA2660186186 | SNRNP200 | c.2037-14T>C (n.2037-14T>C)
| gnomAD v4 |
2 | g.96293111T>C | CA534376453 | SNRNP200 | c.2037-16A>G (n.2037-16A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.96293111T= | CA1272543511 | SNRNP200 | c.2037-16A= (n.2037-16A=)
| |
2 | g.96293112T= | CA1272543512 | SNRNP200 | c.2037-17A= (n.2037-17A=)
| |
2 | g.96293113A>G | CA2660186187 | SNRNP200 | c.2037-18T>C (n.2037-18T>C)
| gnomAD v4 |
2 | g.96293113dup | CA1778783 | SNRNP200 | c.2037-18dup (n.2037-18dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96293114G>A | CA2660186188 | SNRNP200 | c.2037-19C>T (n.2037-19C>T)
| gnomAD v4 |
2 | g.96293119dup | CA2660186189 | SNRNP200 | c.2037-22dup (n.2037-22dup)
| gnomAD v4 |
2 | g.96293118A= | CA1272543513 | SNRNP200 | c.2037-23T= (n.2037-23T=)
| |
2 | g.96293118A>T | CA1778784 | SNRNP200 | c.2037-23T>A (n.2037-23T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96293120T>C | CA52399892 | SNRNP200 | c.2037-25A>G (n.2037-25A>G)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.96293120T= | CA1272543514 | SNRNP200 | c.2037-25A= (n.2037-25A=)
| |
2 | g.96293121G>A | CA1272543516 | SNRNP200 | c.2037-26C>T (n.2037-26C>T)
| dbSNP |
2 | g.96293121G>C | CA1778785 | SNRNP200 | c.2037-26C>G (n.2037-26C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96293121G= | CA1272543515 | SNRNP200 | c.2037-26C= (n.2037-26C=)
| |
2 | g.96293122A>G | CA2660186190 | SNRNP200 | c.2037-27T>C (n.2037-27T>C)
| gnomAD v4 |
2 | g.96293124del | CA2751317113 | SNRNP200 | c.2037-28del (n.2037-28del)
| |
2 | g.96293124G>A | CA2660186191 | SNRNP200 | c.2037-29C>T (n.2037-29C>T)
| gnomAD v4 |
2 | g.96293124G= | CA1272543517 | SNRNP200 | c.2037-29C= (n.2037-29C=)
| |
2 | g.96293124G>T | CA534376456 | SNRNP200 | c.2037-29C>A (n.2037-29C>A)
| dbSNP gnomAD v2 gnomAD v4 |
2 | g.96293136_96293292del | CA2751317116 | SNRNP200 | c.2036+33_2037-32del (n.2036+33_2037-32del)
| |
2 | g.96293128T>C | CA895728792 | SNRNP200 | c.2037-33A>G (n.2037-33A>G)
| dbSNP gnomAD v4 |
2 | g.96293128T= | CA1272543518 | SNRNP200 | c.2037-33A= (n.2037-33A=)
| |
2 | g.96293129G>A | CA2660186192 | SNRNP200 | c.2037-34C>T (n.2037-34C>T)
| gnomAD v4 |
2 | g.96293129G>C | CA2660186193 | SNRNP200 | c.2037-34C>G (n.2037-34C>G)
| gnomAD v4 |
2 | g.96293129_96293135del | CA2751317117 | SNRNP200 | c.2037-40_2037-34del (n.2037-40_2037-34del)
| |
2 | g.96293131C= | CA1272543519 | SNRNP200 | c.2037-36G= (n.2037-36G=)
| |
2 | g.96293131C>G | CA534376459 | SNRNP200 | c.2037-36G>C (n.2037-36G>C)
| dbSNP gnomAD v2 |
2 | g.96293132A>T | CA2660186194 | SNRNP200 | c.2037-37T>A (n.2037-37T>A)
| gnomAD v4 |
2 | g.96293132_96293133insCAC | CA2751317118 | SNRNP200 | c.2037-38_2037-37insGTG (n.2037-38_2037-37insGTG)
| |
2 | g.96293132_96293133insCAG | CA2751317119 | SNRNP200 | c.2037-38_2037-37insCTG (n.2037-38_2037-37insCTG)
| |
2 | g.96293133G>C | CA2660186195 | SNRNP200 | c.2037-38C>G (n.2037-38C>G)
| gnomAD v4 |
2 | g.96293133G= | CA1272543520 | SNRNP200 | c.2037-38C= (n.2037-38C=)
| |
2 | g.96293137dup | CA1272543521 | SNRNP200 | c.2037-39dup (n.2037-39dup)
| dbSNP |
2 | g.96293135A>C | CA2751317120 | SNRNP200 | c.2037-40T>G (n.2037-40T>G)
| |
2 | g.96293137A>C | CA2751317122 | SNRNP200 | c.2037-42T>G (n.2037-42T>G)
| |
2 | g.96293137_96293143del | CA2751317121 | SNRNP200 | c.2037-48_2037-42del (n.2037-48_2037-42del)
| |
2 | g.96293138del | CA2751317123 | SNRNP200 | c.2037-43del (n.2037-43del)
| |
2 | g.96293138T>C | CA1272543523 | SNRNP200 | c.2037-43A>G (n.2037-43A>G)
| dbSNP gnomAD v4 |
2 | g.96293138T= | CA1272543522 | SNRNP200 | c.2037-43A= (n.2037-43A=)
| |
2 | g.96293139A= | CA1272543524 | SNRNP200 | c.2037-44T= (n.2037-44T=)
| |
2 | g.96293139A>C | CA895728793 | SNRNP200 | c.2037-44T>G (n.2037-44T>G)
| dbSNP |
2 | g.96293139_96293140insG | CA2751317126 | SNRNP200 | c.2037-45_2037-44insC (n.2037-45_2037-44insC)
| |
2 | g.96293139_96293140insGAT | CA2751317124 | SNRNP200 | c.2037-45_2037-44insATC (n.2037-45_2037-44insATC)
| |
2 | g.96293140C>A | CA2660186196 | SNRNP200 | c.2037-45G>T (n.2037-45G>T)
| gnomAD v4 |
2 | g.96293140_96293145del | CA2751317125 | SNRNP200 | c.2037-50_2037-45del (n.2037-50_2037-45del)
| |
2 | g.96293144_96293242del | CA2751317127 | SNRNP200 | c.2036+76_2037-47del (n.2036+76_2037-47del)
| |
2 | g.96293143_96293266del | CA2751317128 | SNRNP200 | c.2036+51_2037-47del (n.2036+51_2037-47del)
| |
2 | g.96293142_96293143insACTT | CA2751317129 | SNRNP200 | c.2037-48_2037-47insAAGT (n.2037-48_2037-47insAAGT)
| |
2 | g.96293143T>A | CA427500178 | SNRNP200 | c.2037-48A>T (n.2037-48A>T)
| dbSNP gnomAD v2 |
2 | g.96293143T>C | CA2751317130 | SNRNP200 | c.2037-48A>G (n.2037-48A>G)
| |
2 | g.96293143T= | CA1272543525 | SNRNP200 | c.2037-48A= (n.2037-48A=)
| |
2 | g.96293143_96293144insAGA | CA2751317131 | SNRNP200 | c.2037-49_2037-48insTCT (n.2037-49_2037-48insTCT)
| |
2 | g.96293144G>A | CA895728794 | SNRNP200 | c.2037-49C>T (n.2037-49C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.96293144G= | CA1272543526 | SNRNP200 | c.2037-49C= (n.2037-49C=)
| |
2 | g.96293145G>A | CA2660186197 | SNRNP200 | c.2037-50C>T (n.2037-50C>T)
| gnomAD v4 |
2 | g.96293145_96293146insA | CA2751317132 | SNRNP200 | c.2037-51_2037-50insT (n.2037-51_2037-50insT)
| |
2 | g.96293146G>A | CA2660186198 | SNRNP200 | c.2037-51C>T (n.2037-51C>T)
| gnomAD v4 |
2 | g.96293146_96293149del | CA2751317133 | SNRNP200 | c.2037-54_2037-51del (n.2037-54_2037-51del)
| |
2 | g.96293149_96293151del | CA2751317134 | SNRNP200 | c.2037-54_2037-52del (n.2037-54_2037-52del)
| |
2 | g.96293151A>C | CA2751317135 | SNRNP200 | c.2037-56T>G (n.2037-56T>G)
| |
2 | g.96293151A>G | CA2751317136 | SNRNP200 | c.2037-56T>C (n.2037-56T>C)
| |
2 | g.96293151A>T | CA2577035105 | SNRNP200 | c.2037-56T>A (n.2037-56T>A)
| |
2 | g.96293151_96293153delinsAAC | CA1272543527 | SNRNP200 | c.2037-58_2037-56delinsGTT (n.2037-58_2037-56delinsGTT)
| |
2 | g.96293153_96293154del | CA895728796 | SNRNP200 | c.2037-58_2037-57del (n.2037-58_2037-57del)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.96293154A= | CA1272543528 | SNRNP200 | c.2037-59T= (n.2037-59T=)
| |
2 | g.96293154A>C | CA1272543529 | SNRNP200 | c.2037-59T>G (n.2037-59T>G)
| dbSNP |
2 | g.96293154A>T | CA2751317137 | SNRNP200 | c.2037-59T>A (n.2037-59T>A)
| |
2 | g.96293156T>A | CA895728800 | SNRNP200 | c.2037-61A>T (n.2037-61A>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.96293156T>C | CA895728797 | SNRNP200 | c.2037-61A>G (n.2037-61A>G)
| dbSNP |
2 | g.96293156T= | CA1272543530 | SNRNP200 | c.2037-61A= (n.2037-61A=)
| |
2 | g.96293157C= | CA1272543531 | SNRNP200 | c.2037-62G= (n.2037-62G=)
| |
2 | g.96293157C>G | CA52399905 | SNRNP200 | c.2037-62G>C (n.2037-62G>C)
| dbSNP |
2 | g.96293157_96293158insACA | CA2751317138 | SNRNP200 | c.2037-63_2037-62insTGT (n.2037-63_2037-62insTGT)
| |
2 | g.96293159_96293163del | CA2751317139 | SNRNP200 | c.2037-68_2037-64del (n.2037-68_2037-64del)
| |
2 | g.96293159_96293160insAG | CA2751317141 | SNRNP200 | c.2037-65_2037-64insCT (n.2037-65_2037-64insCT)
| |
2 | g.96293159_96293160insACC | CA2751317140 | SNRNP200 | c.2037-65_2037-64insGGT (n.2037-65_2037-64insGGT)
| |
2 | g.96293159_96293160insAGA | CA2751317142 | SNRNP200 | c.2037-65_2037-64insTCT (n.2037-65_2037-64insTCT)
| |
2 | g.96293160T>A | CA2751317143 | SNRNP200 | c.2037-65A>T (n.2037-65A>T)
| |
2 | g.96293160_96293161insACA | CA2751317144 | SNRNP200 | c.2037-66_2037-65insTGT (n.2037-66_2037-65insTGT)
| |
2 | g.96293161T>C | CA1033977801 | SNRNP200 | c.2037-66A>G (n.2037-66A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.96293161T>G | CA2751317145 | SNRNP200 | c.2037-66A>C (n.2037-66A>C)
| |
2 | g.96293161T= | CA1272543532 | SNRNP200 | c.2037-66A= (n.2037-66A=)
| |
2 | g.96293161_96293162insAGA | CA2751317146 | SNRNP200 | c.2037-67_2037-66insTCT (n.2037-67_2037-66insTCT)
| |
2 | g.96293162T>C | CA2660186199 | SNRNP200 | c.2037-67A>G (n.2037-67A>G)
| gnomAD v4 |
2 | g.96293162_96293163insACC | CA2751317147 | SNRNP200 | c.2037-68_2037-67insGGT (n.2037-68_2037-67insGGT)
| |
2 | g.96293163del | CA2751317148 | SNRNP200 | c.2037-68del (n.2037-68del)
| |
2 | g.96293166_96293169del | CA2751317149 | SNRNP200 | c.2037-73_2037-70del (n.2037-73_2037-70del)
| |
2 | g.96293166T>C | CA2660186200 | SNRNP200 | c.2037-71A>G (n.2037-71A>G)
| gnomAD v4 |
2 | g.96293166_96293167delinsTG | CA1272543533 | SNRNP200 | c.2037-72_2037-71delinsCA (n.2037-72_2037-71delinsCA)
| |
2 | g.96293166_96293172del | CA2751317150 | SNRNP200 | c.2037-77_2037-71del (n.2037-77_2037-71del)
| |
2 | g.96293171_96293300del | CA2751317151 | SNRNP200 | c.2036+21_2037-71del (n.2036+21_2037-71del)
| |
2 | g.96293167del | CA895728803 | SNRNP200 | c.2037-72del (n.2037-72del)
| dbSNP |
2 | g.96293167G>A | CA2660186201 | SNRNP200 | c.2037-72C>T (n.2037-72C>T)
| gnomAD v4 |
2 | g.96293167G>T | CA2577035106 | SNRNP200 | c.2037-72C>A (n.2037-72C>A)
| gnomAD v4 |
2 | g.96293168_96293259del | CA2751317152 | SNRNP200 | c.2036+58_2037-72del (n.2036+58_2037-72del)
| |
2 | g.96293168C>T | CA2660186202 | SNRNP200 | c.2037-73G>A (n.2037-73G>A)
| gnomAD v4 |
2 | g.96293169C>A | CA2751317154 | SNRNP200 | c.2037-74G>T (n.2037-74G>T)
| |
2 | g.96293169C= | CA1272543534 | SNRNP200 | c.2037-74G= (n.2037-74G=)
| |
2 | g.96293169C>T | CA895728820 | SNRNP200 | c.2037-74G>A (n.2037-74G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.96293169_96293172del | CA2751317153 | SNRNP200 | c.2037-77_2037-74del (n.2037-77_2037-74del)
| |
2 | g.96293169_96293170insAG | CA2751317155 | SNRNP200 | c.2037-75_2037-74insCT (n.2037-75_2037-74insCT)
| |
2 | g.96293170C>A | CA2751317157 | SNRNP200 | c.2037-75G>T (n.2037-75G>T)
| |
2 | g.96293170C>T | CA2751317158 | SNRNP200 | c.2037-75G>A (n.2037-75G>A)
| |
2 | g.96293170_96293172del | CA2751317156 | SNRNP200 | c.2037-77_2037-75del (n.2037-77_2037-75del)
| |
2 | g.96293172_96293188dup | CA2660186203 | SNRNP200 | c.2037-91_2037-75dup (n.2037-91_2037-75dup)
| dbSNP gnomAD v4 |
2 | g.96293171C>G | CA2751317161 | SNRNP200 | c.2037-76G>C (n.2037-76G>C)
| |
2 | g.96293171C>T | CA2699990165 | SNRNP200 | c.2037-76G>A (n.2037-76G>A)
| dbSNP |
2 | g.96293171_96293172del | CA2751317160 | SNRNP200 | c.2037-77_2037-76del (n.2037-77_2037-76del)
| |
2 | g.96293172A>G | CA2660186204 | SNRNP200 | c.2037-77T>C (n.2037-77T>C)
| gnomAD v4 |
2 | g.96293173del | CA2751317163 | SNRNP200 | c.2037-77del (n.2037-77del)
| |
2 | g.96293172_96293173insCAT | CA2751317164 | SNRNP200 | c.2037-78_2037-77insATG (n.2037-78_2037-77insATG)
| |
2 | g.96293173A>C | CA2751317166 | SNRNP200 | c.2037-78T>G (n.2037-78T>G)
| |
2 | g.96293173_96293176del | CA2751317165 | SNRNP200 | c.2037-81_2037-78del (n.2037-81_2037-78del)
| |
2 | g.96293174G>A | CA52399911 | SNRNP200 | c.2037-79C>T (n.2037-79C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96293174G>C | CA2751317168 | SNRNP200 | c.2037-79C>G (n.2037-79C>G)
| |
2 | g.96293174G= | CA1272543535 | SNRNP200 | c.2037-79C= (n.2037-79C=)
| |
2 | g.96293175A>G | CA2577035107 | SNRNP200 | c.2037-80T>C (n.2037-80T>C)
| gnomAD v4 |
2 | g.96293175A>T | CA2751317174 | SNRNP200 | c.2037-80T>A (n.2037-80T>A)
| |
2 | g.96293175dup | CA2751317171 | SNRNP200 | c.2037-80dup (n.2037-80dup)
| |
2 | g.96293176_96293178del | CA2751317172 | SNRNP200 | c.2037-82_2037-80del (n.2037-82_2037-80del)
| |
2 | g.96293175_96293179del | CA2751317173 | SNRNP200 | c.2037-84_2037-80del (n.2037-84_2037-80del)
| |
2 | g.96293175_96293176insACT | CA2751317176 | SNRNP200 | c.2037-81_2037-80insAGT (n.2037-81_2037-80insAGT)
| |
2 | g.96293175_96293176insCAG | CA2751317177 | SNRNP200 | c.2037-81_2037-80insCTG (n.2037-81_2037-80insCTG)
| |
2 | g.96293176del | CA2751317178 | SNRNP200 | c.2037-81del (n.2037-81del)
| |
2 | g.96293176G>A | CA2751317179 | SNRNP200 | c.2037-81C>T (n.2037-81C>T)
| |
2 | g.96293176_96293177insA | CA2751317181 | SNRNP200 | c.2037-82_2037-81insT (n.2037-82_2037-81insT)
| |
2 | g.96293177C>A | CA2751317182 | SNRNP200 | c.2037-82G>T (n.2037-82G>T)
| |
2 | g.96293177C>G | CA2751317183 | SNRNP200 | c.2037-82G>C (n.2037-82G>C)
| |
2 | g.96293179A= | CA1272543536 | SNRNP200 | c.2037-84T= (n.2037-84T=)
| |
2 | g.96293179A>G | CA534376460 | SNRNP200 | c.2037-84T>C (n.2037-84T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96293179A>T | CA2751317185 | SNRNP200 | c.2037-84T>A (n.2037-84T>A)
| |
2 | g.96293180T>A | CA2660186205 | SNRNP200 | c.2037-85A>T (n.2037-85A>T)
| gnomAD v4 |
2 | g.96293181A>G | CA2660186206 | SNRNP200 | c.2037-86T>C (n.2037-86T>C)
| gnomAD v4 |
2 | g.96293182T>A | CA2751317188 | SNRNP200 | c.2037-87A>T (n.2037-87A>T)
| |
2 | g.96293182T>C | CA2660186207 | SNRNP200 | c.2037-87A>G (n.2037-87A>G)
| gnomAD v4 |
2 | g.96293182T>G | CA2660186208 | SNRNP200 | c.2037-87A>C (n.2037-87A>C)
| gnomAD v4 |
2 | g.96293182_96293183insAC | CA2751317189 | SNRNP200 | c.2037-88_2037-87insGT (n.2037-88_2037-87insGT)
| |
2 | g.96293183T>A | CA2660186209 | SNRNP200 | c.2037-88A>T (n.2037-88A>T)
| gnomAD v4 |
2 | g.96293183T>C | CA2751317190 | SNRNP200 | c.2037-88A>G (n.2037-88A>G)
| |
2 | g.96293184C>T | CA2660186210 | SNRNP200 | c.2037-89G>A (n.2037-89G>A)
| gnomAD v4 |
2 | g.96293184_96293185insAGTG | CA2751317192 | SNRNP200 | c.2037-90_2037-89insCACT (n.2037-90_2037-89insCACT)
| |
2 | g.96293185_96293191del | CA2751317193 | SNRNP200 | c.2037-96_2037-90del (n.2037-96_2037-90del)
| |
2 | g.96293187C>A | CA2751317194 | SNRNP200 | c.2037-92G>T (n.2037-92G>T)
| |
2 | g.96293188C>A | CA2751317196 | SNRNP200 | c.2037-93G>T (n.2037-93G>T)
| |
2 | g.96293188C>T | CA2577035108 | SNRNP200 | c.2037-93G>A (n.2037-93G>A)
| |
2 | g.96293188_96293194del | CA2751317197 | SNRNP200 | c.2037-99_2037-93del (n.2037-99_2037-93del)
| |
2 | g.96293189T>A | CA2751317201 | SNRNP200 | c.2037-94A>T (n.2037-94A>T)
| |
2 | g.96293189T>C | CA2751317203 | SNRNP200 | c.2037-94A>G (n.2037-94A>G)
| |
2 | g.96293191del | CA2699990168 | SNRNP200 | c.2037-94del (n.2037-94del)
| dbSNP |