Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.79557498T>A | CA377353198 | SFTPA2 | c.458A>T (p.Glu153Val) c.509A>T (p.Glu170Val) c.488A>T (p.Glu163Val) | |
10 | g.79557498T>C | CA377353199 | SFTPA2 | c.458A>G (p.Glu153Gly) c.509A>G (p.Glu170Gly) c.488A>G (p.Glu163Gly) | |
10 | g.79557498T>G | CA377353200 | SFTPA2 | c.458A>C (p.Glu153Ala) c.509A>C (p.Glu170Ala) c.488A>C (p.Glu163Ala) | |
10 | g.79557499C>A | CA377353203 | SFTPA2 | c.457G>T (p.Glu153Ter) c.508G>T (p.Glu170Ter) c.487G>T (p.Glu163Ter) | |
10 | g.79557499C>G | CA377353202 | SFTPA2 | c.457G>C (p.Glu153Gln) c.508G>C (p.Glu170Gln) c.487G>C (p.Glu163Gln) | |
10 | g.79557499C>T | CA377353201 | SFTPA2 | c.457G>A (p.Glu153Lys) c.508G>A (p.Glu170Lys) c.487G>A (p.Glu163Lys) | gnomAD v4 |
10 | g.79557499_79557500insA | CA2609869149 | SFTPA2 | c.456_457insT (p.Glu153Ter) c.507_508insT (p.Glu170Ter) c.486_487insT (p.Glu163Ter) | gnomAD v4 |
10 | g.79557500C>A | CA377353204 | SFTPA2 | c.456G>T (p.Gln152His) c.507G>T (p.Gln169His) c.486G>T (p.Gln162His) | |
10 | g.79557500C= | CA1922244432 | SFTPA2 | c.456G= (p.Gln152=) c.507G= (p.Gln169=) c.486G= (p.Gln162=) | |
10 | g.79557500C>G | CA377353205 | SFTPA2 | c.456G>C (p.Gln152His) c.507G>C (p.Gln169His) c.486G>C (p.Gln162His) | |
10 | g.79557500C>T | CA5574036 | SFTPA2 | c.456G>A (p.Gln152=) c.507G>A (p.Gln169=) c.486G>A (p.Gln162=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557501T>A | CA377353206 | SFTPA2 | c.455A>T (p.Gln152Leu) c.506A>T (p.Gln169Leu) c.485A>T (p.Gln162Leu) | |
10 | g.79557501T>C | CA5574037 | SFTPA2 | c.455A>G (p.Gln152Arg) c.506A>G (p.Gln169Arg) c.485A>G (p.Gln162Arg) | dbSNP ExAC |
10 | g.79557501T>G | CA377353207 | SFTPA2 | c.455A>C (p.Gln152Pro) c.506A>C (p.Gln169Pro) c.485A>C (p.Gln162Pro) | |
10 | g.79557501T= | CA1922244433 | SFTPA2 | c.455A= (p.Gln152=) c.506A= (p.Gln169=) c.485A= (p.Gln162=) | |
10 | g.79557502del | CA2609869150 | SFTPA2 | c.454del (p.Gln152ArgfsTer27) c.454del (p.Gln152ArgfsTer?) c.505del (p.Gln169ArgfsTer27) c.484del (p.Gln162ArgfsTer27) | gnomAD v4 |
10 | g.79557502G>A | CA377353208 | SFTPA2 | c.454C>T (p.Gln152Ter) c.505C>T (p.Gln169Ter) c.484C>T (p.Gln162Ter) | |
10 | g.79557502G>C | CA377353209 | SFTPA2 | c.454C>G (p.Gln152Glu) c.505C>G (p.Gln169Glu) c.484C>G (p.Gln162Glu) | |
10 | g.79557502G>T | CA377353210 | SFTPA2 | c.454C>A (p.Gln152Lys) c.505C>A (p.Gln169Lys) c.484C>A (p.Gln162Lys) | |
10 | g.79557503A>C | CA377353211 | SFTPA2 | c.453T>G (p.Ile151Met) c.504T>G (p.Ile168Met) c.483T>G (p.Ile161Met) | |
10 | g.79557503A>G | CA470414626 | SFTPA2 | c.453T>C (p.Ile151=) c.504T>C (p.Ile168=) c.483T>C (p.Ile161=) | |
10 | g.79557503A>T | CA470414627 | SFTPA2 | c.453T>A (p.Ile151=) c.504T>A (p.Ile168=) c.483T>A (p.Ile161=) | |
10 | g.79557504A= | CA1922244434 | SFTPA2 | c.452T= (p.Ile151=) c.503T= (p.Ile168=) c.482T= (p.Ile161=) | |
10 | g.79557504A>C | CA377353212 | SFTPA2 | c.452T>G (p.Ile151Ser) c.503T>G (p.Ile168Ser) c.482T>G (p.Ile161Ser) | |
10 | g.79557504A>G | CA210248380 | SFTPA2 | c.452T>C (p.Ile151Thr) c.503T>C (p.Ile168Thr) c.482T>C (p.Ile161Thr) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557504A>T | CA377353213 | SFTPA2 | c.452T>A (p.Ile151Asn) c.503T>A (p.Ile168Asn) c.482T>A (p.Ile161Asn) | |
10 | g.79557505T>A | CA377353215 | SFTPA2 | c.451A>T (p.Ile151Phe) c.502A>T (p.Ile168Phe) c.481A>T (p.Ile161Phe) | |
10 | g.79557505T>C | CA377353216 | SFTPA2 | c.451A>G (p.Ile151Val) c.502A>G (p.Ile168Val) c.481A>G (p.Ile161Val) | gnomAD v4 |
10 | g.79557505T>G | CA377353214 | SFTPA2 | c.451A>C (p.Ile151Leu) c.502A>C (p.Ile168Leu) c.481A>C (p.Ile161Leu) | |
10 | g.79557506G>A | CA470414628 | SFTPA2 | c.450C>T (p.Ala150=) c.501C>T (p.Ala167=) c.480C>T (p.Ala160=) | |
10 | g.79557506G>C | CA470414629 | SFTPA2 | c.450C>G (p.Ala150=) c.501C>G (p.Ala167=) c.480C>G (p.Ala160=) | |
10 | g.79557506G>T | CA470414630 | SFTPA2 | c.450C>A (p.Ala150=) c.501C>A (p.Ala167=) c.480C>A (p.Ala160=) | |
10 | g.79557507G>A | CA377353219 | SFTPA2 | c.449C>T (p.Ala150Val) c.500C>T (p.Ala167Val) c.479C>T (p.Ala160Val) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557507G>C | CA377353217 | SFTPA2 | c.449C>G (p.Ala150Gly) c.500C>G (p.Ala167Gly) c.479C>G (p.Ala160Gly) | |
10 | g.79557507G= | CA1922244435 | SFTPA2 | c.449C= (p.Ala150=) c.500C= (p.Ala167=) c.479C= (p.Ala160=) | |
10 | g.79557507G>T | CA377353218 | SFTPA2 | c.449C>A (p.Ala150Asp) c.500C>A (p.Ala167Asp) c.479C>A (p.Ala160Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557508C>A | CA377353220 | SFTPA2 | c.448G>T (p.Ala150Ser) c.499G>T (p.Ala167Ser) c.478G>T (p.Ala160Ser) | |
10 | g.79557508C>G | CA377353221 | SFTPA2 | c.448G>C (p.Ala150Pro) c.499G>C (p.Ala167Pro) c.478G>C (p.Ala160Pro) | |
10 | g.79557508C>T | CA377353222 | SFTPA2 | c.448G>A (p.Ala150Thr) c.499G>A (p.Ala167Thr) c.478G>A (p.Ala160Thr) | |
10 | g.79557509A>C | CA377353223 | SFTPA2 | c.447T>G (p.Asp149Glu) c.498T>G (p.Asp166Glu) c.477T>G (p.Asp159Glu) | |
10 | g.79557509A>G | CA470414631 | SFTPA2 | c.447T>C (p.Asp149=) c.498T>C (p.Asp166=) c.477T>C (p.Asp159=) | |
10 | g.79557509A>T | CA377353224 | SFTPA2 | c.447T>A (p.Asp149Glu) c.498T>A (p.Asp166Glu) c.477T>A (p.Asp159Glu) | |
10 | g.79557510T>A | CA377353225 | SFTPA2 | c.446A>T (p.Asp149Val) c.497A>T (p.Asp166Val) c.476A>T (p.Asp159Val) | gnomAD v4 |
10 | g.79557510T>C | CA377353226 | SFTPA2 | c.446A>G (p.Asp149Gly) c.497A>G (p.Asp166Gly) c.476A>G (p.Asp159Gly) | |
10 | g.79557510T>G | CA377353227 | SFTPA2 | c.446A>C (p.Asp149Ala) c.497A>C (p.Asp166Ala) c.476A>C (p.Asp159Ala) | |
10 | g.79557511C>A | CA377353228 | SFTPA2 | c.445G>T (p.Asp149Tyr) c.496G>T (p.Asp166Tyr) c.475G>T (p.Asp159Tyr) | gnomAD v4 |
10 | g.79557511C>G | CA377353229 | SFTPA2 | c.445G>C (p.Asp149His) c.496G>C (p.Asp166His) c.475G>C (p.Asp159His) | gnomAD v4 |
10 | g.79557511C>T | CA377353230 | SFTPA2 | c.445G>A (p.Asp149Asn) c.496G>A (p.Asp166Asn) c.475G>A (p.Asp159Asn) | |
10 | g.79557512A>C | CA377353232 | SFTPA2 | c.444T>G (p.Phe148Leu) c.495T>G (p.Phe165Leu) c.474T>G (p.Phe158Leu) | |
10 | g.79557512A>G | CA470414632 | SFTPA2 | c.444T>C (p.Phe148=) c.495T>C (p.Phe165=) c.474T>C (p.Phe158=) | |
10 | g.79557512A>T | CA377353231 | SFTPA2 | c.444T>A (p.Phe148Leu) c.495T>A (p.Phe165Leu) c.474T>A (p.Phe158Leu) | gnomAD v4 |
10 | g.79557513A= | CA1922244436 | SFTPA2 | c.443T= (p.Phe148=) c.494T= (p.Phe165=) c.473T= (p.Phe158=) | |
10 | g.79557513A>C | CA377353233 | SFTPA2 | c.443T>G (p.Phe148Cys) c.494T>G (p.Phe165Cys) c.473T>G (p.Phe158Cys) | |
10 | g.79557513A>G | CA377353234 | SFTPA2 | c.443T>C (p.Phe148Ser) c.494T>C (p.Phe165Ser) c.473T>C (p.Phe158Ser) | dbSNP gnomAD v4 |
10 | g.79557513A>T | CA377353235 | SFTPA2 | c.443T>A (p.Phe148Tyr) c.494T>A (p.Phe165Tyr) c.473T>A (p.Phe158Tyr) | |
10 | g.79557514A>C | CA377353236 | SFTPA2 | c.442T>G (p.Phe148Val) c.493T>G (p.Phe165Val) c.472T>G (p.Phe158Val) | |
10 | g.79557514A>G | CA377353237 | SFTPA2 | c.442T>C (p.Phe148Leu) c.493T>C (p.Phe165Leu) c.472T>C (p.Phe158Leu) | |
10 | g.79557514A>T | CA377353238 | SFTPA2 | c.442T>A (p.Phe148Ile) c.493T>A (p.Phe165Ile) c.472T>A (p.Phe158Ile) | |
10 | g.79557515A= | CA1922244437 | SFTPA2 | c.441T= (p.Thr147=) c.492T= (p.Thr164=) c.471T= (p.Thr157=) | |
10 | g.79557515A>C | CA470414635 | SFTPA2 | c.441T>G (p.Thr147=) c.492T>G (p.Thr164=) c.471T>G (p.Thr157=) | |
10 | g.79557515A>G | CA470414634 | SFTPA2 | c.441T>C (p.Thr147=) c.492T>C (p.Thr164=) c.471T>C (p.Thr157=) | dbSNP |
10 | g.79557515A>T | CA470414633 | SFTPA2 | c.441T>A (p.Thr147=) c.492T>A (p.Thr164=) c.471T>A (p.Thr157=) | |
10 | g.79557516_79557519del | CA2609869152 | SFTPA2 | c.438_441del (p.Thr147LeufsTer?) c.489_492del (p.Thr164LeufsTer?) c.468_471del (p.Thr157LeufsTer?) | gnomAD v4 |
10 | g.79557516G>A | CA377353239 | SFTPA2 | c.440C>T (p.Thr147Ile) c.491C>T (p.Thr164Ile) c.470C>T (p.Thr157Ile) | |
10 | g.79557516G>C | CA377353240 | SFTPA2 | c.440C>G (p.Thr147Ser) c.491C>G (p.Thr164Ser) c.470C>G (p.Thr157Ser) | |
10 | g.79557516G>T | CA377353241 | SFTPA2 | c.440C>A (p.Thr147Asn) c.491C>A (p.Thr164Asn) c.470C>A (p.Thr157Asn) | gnomAD v4 |
10 | g.79557517T>A | CA377353242 | SFTPA2 | c.439A>T (p.Thr147Ser) c.490A>T (p.Thr164Ser) c.469A>T (p.Thr157Ser) | |
10 | g.79557517T>C | CA377353243 | SFTPA2 | c.439A>G (p.Thr147Ala) c.490A>G (p.Thr164Ala) c.469A>G (p.Thr157Ala) | |
10 | g.79557517T>G | CA377353244 | SFTPA2 | c.439A>C (p.Thr147Pro) c.490A>C (p.Thr164Pro) c.469A>C (p.Thr157Pro) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557517T= | CA1922244438 | SFTPA2 | c.439A= (p.Thr147=) c.490A= (p.Thr164=) c.469A= (p.Thr157=) | |
10 | g.79557518G>A | CA470414636 | SFTPA2 | c.438C>T (p.Ile146=) c.489C>T (p.Ile163=) c.468C>T (p.Ile156=) | gnomAD v4 |
10 | g.79557518G>C | CA377353245 | SFTPA2 | c.438C>G (p.Ile146Met) c.489C>G (p.Ile163Met) c.468C>G (p.Ile156Met) | |
10 | g.79557518G= | CA1922244439 | SFTPA2 | c.438C= (p.Ile146=) c.489C= (p.Ile163=) c.468C= (p.Ile156=) | |
10 | g.79557518G>T | CA470414637 | SFTPA2 | c.438C>A (p.Ile146=) c.489C>A (p.Ile163=) c.468C>A (p.Ile156=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557519A>C | CA377353248 | SFTPA2 | c.437T>G (p.Ile146Ser) c.488T>G (p.Ile163Ser) c.467T>G (p.Ile156Ser) | |
10 | g.79557519A>G | CA377353247 | SFTPA2 | c.437T>C (p.Ile146Thr) c.488T>C (p.Ile163Thr) c.467T>C (p.Ile156Thr) | |
10 | g.79557519A>T | CA377353246 | SFTPA2 | c.437T>A (p.Ile146Asn) c.488T>A (p.Ile163Asn) c.467T>A (p.Ile156Asn) | |
10 | g.79557520T>A | CA377353249 | SFTPA2 | c.436A>T (p.Ile146Phe) c.487A>T (p.Ile163Phe) c.466A>T (p.Ile156Phe) | |
10 | g.79557520T>C | CA377353250 | SFTPA2 | c.436A>G (p.Ile146Val) c.487A>G (p.Ile163Val) c.466A>G (p.Ile156Val) | gnomAD v4 |
10 | g.79557520T>G | CA5574038 | SFTPA2 | c.436A>C (p.Ile146Leu) c.487A>C (p.Ile163Leu) c.466A>C (p.Ile156Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557520T= | CA1922244440 | SFTPA2 | c.436A= (p.Ile146=) c.487A= (p.Ile163=) c.466A= (p.Ile156=) | |
10 | g.79557521G>A | CA470414638 | SFTPA2 | c.435C>T (p.Ser145=) c.486C>T (p.Ser162=) c.465C>T (p.Ser155=) | gnomAD v4 |
10 | g.79557521G>C | CA470414640 | SFTPA2 | c.435C>G (p.Ser145=) c.486C>G (p.Ser162=) c.465C>G (p.Ser155=) | |
10 | g.79557521G>T | CA470414639 | SFTPA2 | c.435C>A (p.Ser145=) c.486C>A (p.Ser162=) c.465C>A (p.Ser155=) | |
10 | g.79557522G>A | CA377353251 | SFTPA2 | c.434C>T (p.Ser145Phe) c.485C>T (p.Ser162Phe) c.464C>T (p.Ser155Phe) | |
10 | g.79557522G>C | CA377353252 | SFTPA2 | c.434C>G (p.Ser145Cys) c.485C>G (p.Ser162Cys) c.464C>G (p.Ser155Cys) | |
10 | g.79557522G>T | CA377353253 | SFTPA2 | c.434C>A (p.Ser145Tyr) c.485C>A (p.Ser162Tyr) c.464C>A (p.Ser155Tyr) | |
10 | g.79557523A= | CA1922244441 | SFTPA2 | c.433T= (p.Ser145=) c.484T= (p.Ser162=) c.463T= (p.Ser155=) | |
10 | g.79557523A>C | CA377353256 | SFTPA2 | c.433T>G (p.Ser145Ala) c.484T>G (p.Ser162Ala) c.463T>G (p.Ser155Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557523A>G | CA377353254 | SFTPA2 | c.433T>C (p.Ser145Pro) c.484T>C (p.Ser162Pro) c.463T>C (p.Ser155Pro) | dbSNP gnomAD v4 |
10 | g.79557523A>T | CA377353255 | SFTPA2 | c.433T>A (p.Ser145Thr) c.484T>A (p.Ser162Thr) c.463T>A (p.Ser155Thr) | |
10 | g.79557524_79557525insCAAC | CA2609869153 | SFTPA2 | c.433_434insTGGT (p.Ser145LeufsTer6) c.484_485insTGGT (p.Ser162LeufsTer6) c.463_464insTGGT (p.Ser155LeufsTer6) | gnomAD v4 |
10 | g.79557524C>A | CA377353257 | SFTPA2 | c.432G>T (p.Gln144His) c.483G>T (p.Gln161His) c.462G>T (p.Gln154His) | |
10 | g.79557524C>G | CA377353258 | SFTPA2 | c.432G>C (p.Gln144His) c.483G>C (p.Gln161His) c.462G>C (p.Gln154His) | gnomAD v4 |
10 | g.79557524C>T | CA470414641 | SFTPA2 | c.432G>A (p.Gln144=) c.483G>A (p.Gln161=) c.462G>A (p.Gln154=) | gnomAD v4 |
10 | g.79557525_79557528dup | CA2609869154 | SFTPA2 | c.429_432dup (p.Ser145AlafsTer6) c.480_483dup (p.Ser162AlafsTer6) c.459_462dup (p.Ser155AlafsTer6) | gnomAD v4 |
10 | g.79557525T>A | CA377353259 | SFTPA2 | c.431A>T (p.Gln144Leu) c.482A>T (p.Gln161Leu) c.461A>T (p.Gln154Leu) | |
10 | g.79557525T>C | CA377353260 | SFTPA2 | c.431A>G (p.Gln144Arg) c.482A>G (p.Gln161Arg) c.461A>G (p.Gln154Arg) | |
10 | g.79557525T>G | CA377353261 | SFTPA2 | c.431A>C (p.Gln144Pro) c.482A>C (p.Gln161Pro) c.461A>C (p.Gln154Pro) | |
10 | g.79557526G>A | CA377353262 | SFTPA2 | c.430C>T (p.Gln144Ter) c.481C>T (p.Gln161Ter) c.460C>T (p.Gln154Ter) | |
10 | g.79557526G>C | CA377353264 | SFTPA2 | c.430C>G (p.Gln144Glu) c.481C>G (p.Gln161Glu) c.460C>G (p.Gln154Glu) | |
10 | g.79557526G>T | CA377353263 | SFTPA2 | c.430C>A (p.Gln144Lys) c.481C>A (p.Gln161Lys) c.460C>A (p.Gln154Lys) | |
10 | g.79557527C>A | CA470414642 | SFTPA2 | c.429G>T (p.Gly143=) c.480G>T (p.Gly160=) c.459G>T (p.Gly153=) | dbSNP gnomAD v4 |
10 | g.79557527C= | CA1922244442 | SFTPA2 | c.429G= (p.Gly143=) c.480G= (p.Gly160=) c.459G= (p.Gly153=) | |
10 | g.79557527C>G | CA470414643 | SFTPA2 | c.429G>C (p.Gly143=) c.480G>C (p.Gly160=) c.459G>C (p.Gly153=) | |
10 | g.79557527C>T | CA470414644 | SFTPA2 | c.429G>A (p.Gly143=) c.480G>A (p.Gly160=) c.459G>A (p.Gly153=) | dbSNP |
10 | g.79557528C>A | CA377353265 | SFTPA2 | c.428G>T (p.Gly143Val) c.479G>T (p.Gly160Val) c.458G>T (p.Gly153Val) | |
10 | g.79557528C>G | CA377353266 | SFTPA2 | c.428G>C (p.Gly143Ala) c.479G>C (p.Gly160Ala) c.458G>C (p.Gly153Ala) | |
10 | g.79557528C>T | CA377353267 | SFTPA2 | c.428G>A (p.Gly143Glu) c.479G>A (p.Gly160Glu) c.458G>A (p.Gly153Glu) | |
10 | g.79557529C>A | CA377353268 | SFTPA2 | c.427G>T (p.Gly143Trp) c.478G>T (p.Gly160Trp) c.457G>T (p.Gly153Trp) | |
10 | g.79557529C= | CA1922244443 | SFTPA2 | c.427G= (p.Gly143=) c.478G= (p.Gly160=) c.457G= (p.Gly153=) | |
10 | g.79557529C>G | CA377353269 | SFTPA2 | c.427G>C (p.Gly143Arg) c.478G>C (p.Gly160Arg) c.457G>C (p.Gly153Arg) | |
10 | g.79557529C>T | CA377353270 | SFTPA2 | c.427G>A (p.Gly143Arg) c.478G>A (p.Gly160Arg) c.457G>A (p.Gly153Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557530A= | CA1922244444 | SFTPA2 | c.426T= (p.Asn142=) c.477T= (p.Asn159=) c.456T= (p.Asn152=) | |
10 | g.79557530A>C | CA377353271 | SFTPA2 | c.426T>G (p.Asn142Lys) c.477T>G (p.Asn159Lys) c.456T>G (p.Asn152Lys) | |
10 | g.79557530A>G | CA210248395 | SFTPA2 | c.426T>C (p.Asn142=) c.477T>C (p.Asn159=) c.456T>C (p.Asn152=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557530A>T | CA377353272 | SFTPA2 | c.426T>A (p.Asn142Lys) c.477T>A (p.Asn159Lys) c.456T>A (p.Asn152Lys) | |
10 | g.79557531T>A | CA377353273 | SFTPA2 | c.425A>T (p.Asn142Ile) c.476A>T (p.Asn159Ile) c.455A>T (p.Asn152Ile) | dbSNP gnomAD v4 |
10 | g.79557531T>C | CA377353274 | SFTPA2 | c.425A>G (p.Asn142Ser) c.476A>G (p.Asn159Ser) c.455A>G (p.Asn152Ser) | gnomAD v4 |
10 | g.79557531T>G | CA377353275 | SFTPA2 | c.425A>C (p.Asn142Thr) c.476A>C (p.Asn159Thr) c.455A>C (p.Asn152Thr) | |
10 | g.79557531T= | CA1922244445 | SFTPA2 | c.425A= (p.Asn142=) c.476A= (p.Asn159=) c.455A= (p.Asn152=) | |
10 | g.79557532T>A | CA377353278 | SFTPA2 | c.424A>T (p.Asn142Tyr) c.475A>T (p.Asn159Tyr) c.454A>T (p.Asn152Tyr) | gnomAD v4 |
10 | g.79557532T>C | CA377353277 | SFTPA2 | c.424A>G (p.Asn142Asp) c.475A>G (p.Asn159Asp) c.454A>G (p.Asn152Asp) | gnomAD v4 |
10 | g.79557532T>G | CA377353276 | SFTPA2 | c.424A>C (p.Asn142His) c.475A>C (p.Asn159His) c.454A>C (p.Asn152His) | |
10 | g.79557533G>A | CA470414645 | SFTPA2 | c.423C>T (p.Ser141=) c.474C>T (p.Ser158=) c.453C>T (p.Ser151=) | |
10 | g.79557533G>C | CA377353279 | SFTPA2 | c.423C>G (p.Ser141Arg) c.474C>G (p.Ser158Arg) c.453C>G (p.Ser151Arg) | |
10 | g.79557533G>T | CA377353280 | SFTPA2 | c.423C>A (p.Ser141Arg) c.474C>A (p.Ser158Arg) c.453C>A (p.Ser151Arg) | |
10 | g.79557534C>A | CA377353281 | SFTPA2 | c.422G>T (p.Ser141Ile) c.473G>T (p.Ser158Ile) c.452G>T (p.Ser151Ile) | |
10 | g.79557534C>G | CA377353282 | SFTPA2 | c.422G>C (p.Ser141Thr) c.473G>C (p.Ser158Thr) c.452G>C (p.Ser151Thr) | |
10 | g.79557534C>T | CA377353283 | SFTPA2 | c.422G>A (p.Ser141Asn) c.473G>A (p.Ser158Asn) c.452G>A (p.Ser151Asn) | gnomAD v4 |
10 | g.79557535T>A | CA377353284 | SFTPA2 | c.421A>T (p.Ser141Cys) c.472A>T (p.Ser158Cys) c.451A>T (p.Ser151Cys) | |
10 | g.79557535T>C | CA377353285 | SFTPA2 | c.421A>G (p.Ser141Gly) c.472A>G (p.Ser158Gly) c.451A>G (p.Ser151Gly) | |
10 | g.79557535T>G | CA377353286 | SFTPA2 | c.421A>C (p.Ser141Arg) c.472A>C (p.Ser158Arg) c.451A>C (p.Ser151Arg) | dbSNP gnomAD v4 |
10 | g.79557536G>A | CA5574039 | SFTPA2 | c.420C>T (p.Ser140=) c.471C>T (p.Ser157=) c.450C>T (p.Ser150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557536G>C | CA470414652 | SFTPA2 | c.420C>G (p.Ser140=) c.471C>G (p.Ser157=) c.450C>G (p.Ser150=) | dbSNP |
10 | g.79557536G= | CA1630848393 | SFTPA2 | c.420C= (p.Ser140=) c.471C= (p.Ser157=) c.450C= (p.Ser150=) | |
10 | g.79557536G>T | CA470414653 | SFTPA2 | c.420C>A (p.Ser140=) c.471C>A (p.Ser157=) c.450C>A (p.Ser150=) | |
10 | g.79557537G>A | CA377353289 | SFTPA2 | c.419C>T (p.Ser140Phe) c.470C>T (p.Ser157Phe) c.449C>T (p.Ser150Phe) | gnomAD v4 |
10 | g.79557537G>C | CA377353287 | SFTPA2 | c.419C>G (p.Ser140Cys) c.470C>G (p.Ser157Cys) c.449C>G (p.Ser150Cys) | |
10 | g.79557537G>T | CA377353288 | SFTPA2 | c.419C>A (p.Ser140Tyr) c.470C>A (p.Ser157Tyr) c.449C>A (p.Ser150Tyr) | |
10 | g.79557538del | CA2609869155 | SFTPA2 | c.418del (p.Ser140ProfsTer?) c.469del (p.Ser157ProfsTer?) c.448del (p.Ser150ProfsTer?) | gnomAD v4 |
10 | g.79557538A>C | CA377353290 | SFTPA2 | c.418T>G (p.Ser140Ala) c.469T>G (p.Ser157Ala) c.448T>G (p.Ser150Ala) | |
10 | g.79557538A>G | CA377353291 | SFTPA2 | c.418T>C (p.Ser140Pro) c.469T>C (p.Ser157Pro) c.448T>C (p.Ser150Pro) | |
10 | g.79557538A>T | CA377353292 | SFTPA2 | c.418T>A (p.Ser140Thr) c.469T>A (p.Ser157Thr) c.448T>A (p.Ser150Thr) | |
10 | g.79557539G>A | CA470414663 | SFTPA2 | c.417C>T (p.Phe139=) c.468C>T (p.Phe156=) c.447C>T (p.Phe149=) | gnomAD v4 |
10 | g.79557539G>C | CA377353293 | SFTPA2 | c.417C>G (p.Phe139Leu) c.468C>G (p.Phe156Leu) c.447C>G (p.Phe149Leu) | |
10 | g.79557539G>T | CA377353294 | SFTPA2 | c.417C>A (p.Phe139Leu) c.468C>A (p.Phe156Leu) c.447C>A (p.Phe149Leu) | |
10 | g.79557540A= | CA1922244446 | SFTPA2 | c.416T= (p.Phe139=) c.467T= (p.Phe156=) c.446T= (p.Phe149=) | |
10 | g.79557540A>C | CA5574040 | SFTPA2 | c.416T>G (p.Phe139Cys) c.467T>G (p.Phe156Cys) c.446T>G (p.Phe149Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557540A>G | CA377353296 | SFTPA2 | c.416T>C (p.Phe139Ser) c.467T>C (p.Phe156Ser) c.446T>C (p.Phe149Ser) | |
10 | g.79557540A>T | CA377353295 | SFTPA2 | c.416T>A (p.Phe139Tyr) c.467T>A (p.Phe156Tyr) c.446T>A (p.Phe149Tyr) | |
10 | g.79557541A>C | CA377353297 | SFTPA2 | c.415T>G (p.Phe139Val) c.466T>G (p.Phe156Val) c.445T>G (p.Phe149Val) | |
10 | g.79557541A>G | CA377353298 | SFTPA2 | c.415T>C (p.Phe139Leu) c.466T>C (p.Phe156Leu) c.445T>C (p.Phe149Leu) | |
10 | g.79557541A>T | CA377353299 | SFTPA2 | c.415T>A (p.Phe139Ile) c.466T>A (p.Phe156Ile) c.445T>A (p.Phe149Ile) | |
10 | g.79557542G>A | CA470414676 | SFTPA2 | c.414C>T (p.Val138=) c.465C>T (p.Val155=) c.444C>T (p.Val148=) | gnomAD v4 |
10 | g.79557542G>C | CA470414678 | SFTPA2 | c.414C>G (p.Val138=) c.465C>G (p.Val155=) c.444C>G (p.Val148=) | |
10 | g.79557542G>T | CA470414674 | SFTPA2 | c.414C>A (p.Val138=) c.465C>A (p.Val155=) c.444C>A (p.Val148=) | |
10 | g.79557543A>C | CA377353300 | SFTPA2 | c.413T>G (p.Val138Gly) c.464T>G (p.Val155Gly) c.443T>G (p.Val148Gly) | |
10 | g.79557543A>G | CA377353301 | SFTPA2 | c.413T>C (p.Val138Ala) c.464T>C (p.Val155Ala) c.443T>C (p.Val148Ala) | dbSNP gnomAD v4 |
10 | g.79557543A>T | CA377353302 | SFTPA2 | c.413T>A (p.Val138Asp) c.464T>A (p.Val155Asp) c.443T>A (p.Val148Asp) | gnomAD v4 |
10 | g.79557544C>A | CA377353303 | SFTPA2 | c.412G>T (p.Val138Phe) c.463G>T (p.Val155Phe) c.442G>T (p.Val148Phe) | |
10 | g.79557544C>G | CA377353304 | SFTPA2 | c.412G>C (p.Val138Leu) c.463G>C (p.Val155Leu) c.442G>C (p.Val148Leu) | |
10 | g.79557544C>T | CA377353305 | SFTPA2 | c.412G>A (p.Val138Ile) c.463G>A (p.Val155Ile) c.442G>A (p.Val148Ile) | gnomAD v4 |
10 | g.79557545C>A | CA377353306 | SFTPA2 | c.411G>T (p.Lys137Asn) c.462G>T (p.Lys154Asn) c.441G>T (p.Lys147Asn) | gnomAD v4 |
10 | g.79557545C>G | CA377353307 | SFTPA2 | c.411G>C (p.Lys137Asn) c.462G>C (p.Lys154Asn) c.441G>C (p.Lys147Asn) | |
10 | g.79557545C>T | CA470414688 | SFTPA2 | c.411G>A (p.Lys137=) c.462G>A (p.Lys154=) c.441G>A (p.Lys147=) | gnomAD v4 |
10 | g.79557547_79557549del | CA2609869157 | SFTPA2 | c.409_411del (p.Lys137del) c.460_462del (p.Lys154del) c.439_441del (p.Lys147del) | gnomAD v4 |
10 | g.79557546T>A | CA377353308 | SFTPA2 | c.410A>T (p.Lys137Met) c.461A>T (p.Lys154Met) c.440A>T (p.Lys147Met) | gnomAD v4 |
10 | g.79557546T>C | CA377353310 | SFTPA2 | c.410A>G (p.Lys137Arg) c.461A>G (p.Lys154Arg) c.440A>G (p.Lys147Arg) | |
10 | g.79557546T>G | CA377353309 | SFTPA2 | c.410A>C (p.Lys137Thr) c.461A>C (p.Lys154Thr) c.440A>C (p.Lys147Thr) | |
10 | g.79557547T>A | CA377353311 | SFTPA2 | c.409A>T (p.Lys137Ter) c.460A>T (p.Lys154Ter) c.439A>T (p.Lys147Ter) | |
10 | g.79557547T>C | CA377353312 | SFTPA2 | c.409A>G (p.Lys137Glu) c.460A>G (p.Lys154Glu) c.439A>G (p.Lys147Glu) | |
10 | g.79557547T>G | CA377353313 | SFTPA2 | c.409A>C (p.Lys137Gln) c.460A>C (p.Lys154Gln) c.439A>C (p.Lys147Gln) | |
10 | g.79557548C>A | CA377353314 | SFTPA2 | c.408G>T (p.Glu136Asp) c.459G>T (p.Glu153Asp) c.438G>T (p.Glu146Asp) | |
10 | g.79557548C>G | CA377353315 | SFTPA2 | c.408G>C (p.Glu136Asp) c.459G>C (p.Glu153Asp) c.438G>C (p.Glu146Asp) | |
10 | g.79557548C>T | CA470414699 | SFTPA2 | c.408G>A (p.Glu136=) c.459G>A (p.Glu153=) c.438G>A (p.Glu146=) | |
10 | g.79557549T>A | CA377353316 | SFTPA2 | c.407A>T (p.Glu136Val) c.458A>T (p.Glu153Val) c.437A>T (p.Glu146Val) | |
10 | g.79557549T>C | CA377353317 | SFTPA2 | c.407A>G (p.Glu136Gly) c.458A>G (p.Glu153Gly) c.437A>G (p.Glu146Gly) | gnomAD v4 |
10 | g.79557549T>G | CA377353318 | SFTPA2 | c.407A>C (p.Glu136Ala) c.458A>C (p.Glu153Ala) c.437A>C (p.Glu146Ala) | |
10 | g.79557550C>A | CA377353319 | SFTPA2 | c.406G>T (p.Glu136Ter) c.457G>T (p.Glu153Ter) c.436G>T (p.Glu146Ter) | |
10 | g.79557550C= | CA1922244447 | SFTPA2 | c.406G= (p.Glu136=) c.457G= (p.Glu153=) c.436G= (p.Glu146=) | |
10 | g.79557550C>G | CA377353320 | SFTPA2 | c.406G>C (p.Glu136Gln) c.457G>C (p.Glu153Gln) c.436G>C (p.Glu146Gln) | |
10 | g.79557550C>T | CA5574041 | SFTPA2 | c.406G>A (p.Glu136Lys) c.457G>A (p.Glu153Lys) c.436G>A (p.Glu146Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557551T>A | CA470414709 | SFTPA2 | c.405A>T (p.Gly135=) c.456A>T (p.Gly152=) c.435A>T (p.Gly145=) | |
10 | g.79557551T>C | CA470414711 | SFTPA2 | c.405A>G (p.Gly135=) c.456A>G (p.Gly152=) c.435A>G (p.Gly145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557551T>G | CA470414712 | SFTPA2 | c.405A>C (p.Gly135=) c.456A>C (p.Gly152=) c.435A>C (p.Gly145=) | |
10 | g.79557551T= | CA1922244448 | SFTPA2 | c.405A= (p.Gly135=) c.456A= (p.Gly152=) c.435A= (p.Gly145=) | |
10 | g.79557551_79557552insAG | CA2609869158 | SFTPA2 | c.404_405insCT (p.Glu136Ter) c.455_456insCT (p.Glu153Ter) c.434_435insCT (p.Glu146Ter) | gnomAD v4 |
10 | g.79557552C>A | CA377353322 | SFTPA2 | c.404G>T (p.Gly135Val) c.455G>T (p.Gly152Val) c.434G>T (p.Gly145Val) | |
10 | g.79557552C= | CA1922244449 | SFTPA2 | c.404G= (p.Gly135=) c.455G= (p.Gly152=) c.434G= (p.Gly145=) | |
10 | g.79557552C>G | CA210248420 | SFTPA2 | c.404G>C (p.Gly135Ala) c.455G>C (p.Gly152Ala) c.434G>C (p.Gly145Ala) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557552C>T | CA377353321 | SFTPA2 | c.404G>A (p.Gly135Glu) c.455G>A (p.Gly152Glu) c.434G>A (p.Gly145Glu) | gnomAD v4 |
10 | g.79557553C>A | CA377353323 | SFTPA2 | c.403G>T (p.Gly135Ter) c.454G>T (p.Gly152Ter) c.433G>T (p.Gly145Ter) | |
10 | g.79557553C= | CA1922244450 | SFTPA2 | c.403G= (p.Gly135=) c.454G= (p.Gly152=) c.433G= (p.Gly145=) | |
10 | g.79557553C>G | CA377353324 | SFTPA2 | c.403G>C (p.Gly135Arg) c.454G>C (p.Gly152Arg) c.433G>C (p.Gly145Arg) | gnomAD v4 |
10 | g.79557553C>T | CA210248421 | SFTPA2 | c.403G>A (p.Gly135Arg) c.454G>A (p.Gly152Arg) c.433G>A (p.Gly145Arg) | dbSNP gnomAD v4 |
10 | g.79557555_79557557dup | CA594711239 | SFTPA2 | c.401_403dup (p.Val134_Gly135insVal) c.452_454dup (p.Val151_Gly152insVal) c.431_433dup (p.Val144_Gly145insVal) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557554T>A | CA470414723 | SFTPA2 | c.402A>T (p.Val134=) c.453A>T (p.Val151=) c.432A>T (p.Val144=) | |
10 | g.79557554T>C | CA470414725 | SFTPA2 | c.402A>G (p.Val134=) c.453A>G (p.Val151=) c.432A>G (p.Val144=) | |
10 | g.79557554T>G | CA470414727 | SFTPA2 | c.402A>C (p.Val134=) c.453A>C (p.Val151=) c.432A>C (p.Val144=) | |
10 | g.79557555A= | CA1922244451 | SFTPA2 | c.401T= (p.Val134=) c.452T= (p.Val151=) c.431T= (p.Val144=) | |
10 | g.79557555A>C | CA377353325 | SFTPA2 | c.401T>G (p.Val134Gly) c.452T>G (p.Val151Gly) c.431T>G (p.Val144Gly) | |
10 | g.79557555A>G | CA5574042 | SFTPA2 | c.401T>C (p.Val134Ala) c.452T>C (p.Val151Ala) c.431T>C (p.Val144Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557555A>T | CA377353326 | SFTPA2 | c.401T>A (p.Val134Glu) c.452T>A (p.Val151Glu) c.431T>A (p.Val144Glu) | |
10 | g.79557556C>A | CA377353327 | SFTPA2 | c.400G>T (p.Val134Leu) c.451G>T (p.Val151Leu) c.430G>T (p.Val144Leu) | |
10 | g.79557556C= | CA1922244452 | SFTPA2 | c.400G= (p.Val134=) c.451G= (p.Val151=) c.430G= (p.Val144=) | |
10 | g.79557556C>G | CA377353328 | SFTPA2 | c.400G>C (p.Val134Leu) c.451G>C (p.Val151Leu) c.430G>C (p.Val144Leu) | |
10 | g.79557556C>T | CA5574043 | SFTPA2 | c.400G>A (p.Val134Ile) c.451G>A (p.Val151Ile) c.430G>A (p.Val144Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557557T>A | CA470414736 | SFTPA2 | c.399A>T (p.Thr133=) c.450A>T (p.Thr150=) c.429A>T (p.Thr143=) | |
10 | g.79557557T>C | CA5574044 | SFTPA2 | c.399A>G (p.Thr133=) c.450A>G (p.Thr150=) c.429A>G (p.Thr143=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557557T>G | CA470414739 | SFTPA2 | c.399A>C (p.Thr133=) c.450A>C (p.Thr150=) c.429A>C (p.Thr143=) | |
10 | g.79557557T= | CA1922244453 | SFTPA2 | c.399A= (p.Thr133=) c.450A= (p.Thr150=) c.429A= (p.Thr143=) | |
10 | g.79557558G>A | CA377353329 | SFTPA2 | c.398C>T (p.Thr133Ile) c.449C>T (p.Thr150Ile) c.428C>T (p.Thr143Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557558G>C | CA377353330 | SFTPA2 | c.398C>G (p.Thr133Arg) c.449C>G (p.Thr150Arg) c.428C>G (p.Thr143Arg) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557558G= | CA1922244454 | SFTPA2 | c.398C= (p.Thr133=) c.449C= (p.Thr150=) c.428C= (p.Thr143=) | |
10 | g.79557558G>T | CA377353331 | SFTPA2 | c.398C>A (p.Thr133Lys) c.449C>A (p.Thr150Lys) c.428C>A (p.Thr143Lys) | |
10 | g.79557559del | CA2609869159 | SFTPA2 | c.397del (p.Thr133GlnfsTer2) c.448del (p.Thr150GlnfsTer2) c.427del (p.Thr143GlnfsTer2) | gnomAD v4 |
10 | g.79557559T>A | CA377353334 | SFTPA2 | c.397A>T (p.Thr133Ser) c.448A>T (p.Thr150Ser) c.427A>T (p.Thr143Ser) | |
10 | g.79557559T>C | CA377353333 | SFTPA2 | c.397A>G (p.Thr133Ala) c.448A>G (p.Thr150Ala) c.427A>G (p.Thr143Ala) | dbSNP |
10 | g.79557559T>G | CA377353332 | SFTPA2 | c.397A>C (p.Thr133Pro) c.448A>C (p.Thr150Pro) c.427A>C (p.Thr143Pro) | |
10 | g.79557559T= | CA1922244455 | SFTPA2 | c.397A= (p.Thr133=) c.448A= (p.Thr150=) c.427A= (p.Thr143=) | |
10 | g.79557560C>A | CA377353336 | SFTPA2 | c.396G>T (p.Met132Ile) c.447G>T (p.Met149Ile) c.426G>T (p.Met142Ile) | gnomAD v4 |
10 | g.79557560C>G | CA377353335 | SFTPA2 | c.396G>C (p.Met132Ile) c.447G>C (p.Met149Ile) c.426G>C (p.Met142Ile) | |
10 | g.79557560C>T | CA377353337 | SFTPA2 | c.396G>A (p.Met132Ile) c.447G>A (p.Met149Ile) c.426G>A (p.Met142Ile) | |
10 | g.79557561A= | CA1922244456 | SFTPA2 | c.395T= (p.Met132=) c.446T= (p.Met149=) c.425T= (p.Met142=) | |
10 | g.79557561A>C | CA377353338 | SFTPA2 | c.395T>G (p.Met132Arg) c.446T>G (p.Met149Arg) c.425T>G (p.Met142Arg) | |
10 | g.79557561A>G | CA210248434 | SFTPA2 | c.395T>C (p.Met132Thr) c.446T>C (p.Met149Thr) c.425T>C (p.Met142Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557561A>T | CA377353339 | SFTPA2 | c.395T>A (p.Met132Lys) c.446T>A (p.Met149Lys) c.425T>A (p.Met142Lys) | |
10 | g.79557563_79557565del | CA2609869160 | SFTPA2 | c.393_395del (p.Ile131del) c.444_446del (p.Ile148del) c.423_425del (p.Ile141del) | gnomAD v4 |
10 | g.79557562T>A | CA377353340 | SFTPA2 | c.394A>T (p.Met132Leu) c.445A>T (p.Met149Leu) c.424A>T (p.Met142Leu) | |
10 | g.79557562T>C | CA377353341 | SFTPA2 | c.394A>G (p.Met132Val) c.445A>G (p.Met149Val) c.424A>G (p.Met142Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557562T>G | CA377353342 | SFTPA2 | c.394A>C (p.Met132Leu) c.445A>C (p.Met149Leu) c.424A>C (p.Met142Leu) | |
10 | g.79557562T= | CA1922244457 | SFTPA2 | c.394A= (p.Met132=) c.445A= (p.Met149=) c.424A= (p.Met142=) | |
10 | g.79557562_79557563del | CA2609869161 | SFTPA2 | c.393_394del (p.Met132AspfsTer17) c.444_445del (p.Met149AspfsTer17) c.423_424del (p.Met142AspfsTer17) | gnomAD v4 |
10 | g.79557563T>A | CA470414758 | SFTPA2 | c.393A>T (p.Ile131=) c.444A>T (p.Ile148=) c.423A>T (p.Ile141=) | |
10 | g.79557563T>C | CA377353343 | SFTPA2 | c.393A>G (p.Ile131Met) c.444A>G (p.Ile148Met) c.423A>G (p.Ile141Met) | |
10 | g.79557563T>G | CA470414760 | SFTPA2 | c.393A>C (p.Ile131=) c.444A>C (p.Ile148=) c.423A>C (p.Ile141=) | gnomAD v4 |
10 | g.79557564A= | CA1922244458 | SFTPA2 | c.392T= (p.Ile131=) c.443T= (p.Ile148=) c.422T= (p.Ile141=) | |
10 | g.79557564A>C | CA377353344 | SFTPA2 | c.392T>G (p.Ile131Arg) c.443T>G (p.Ile148Arg) c.422T>G (p.Ile141Arg) | |
10 | g.79557564A>G | CA377353345 | SFTPA2 | c.392T>C (p.Ile131Thr) c.443T>C (p.Ile148Thr) c.422T>C (p.Ile141Thr) | |
10 | g.79557564A>T | CA5574045 | SFTPA2 | c.392T>A (p.Ile131Lys) c.443T>A (p.Ile148Lys) c.422T>A (p.Ile141Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557565T>A | CA377353346 | SFTPA2 | c.391A>T (p.Ile131Leu) c.442A>T (p.Ile148Leu) c.421A>T (p.Ile141Leu) | |
10 | g.79557565T>C | CA377353347 | SFTPA2 | c.391A>G (p.Ile131Val) c.442A>G (p.Ile148Val) c.421A>G (p.Ile141Val) | gnomAD v4 |
10 | g.79557565T>G | CA377353348 | SFTPA2 | c.391A>C (p.Ile131Leu) c.442A>C (p.Ile148Leu) c.421A>C (p.Ile141Leu) | dbSNP |
10 | g.79557565T= | CA1922244459 | SFTPA2 | c.391A= (p.Ile131=) c.442A= (p.Ile148=) c.421A= (p.Ile141=) | |
10 | g.79557566G>A | CA5574046 | SFTPA2 | c.390C>T (p.Ser130=) c.441C>T (p.Ser147=) c.420C>T (p.Ser140=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557566G>C | CA470414771 | SFTPA2 | c.390C>G (p.Ser130=) c.441C>G (p.Ser147=) c.420C>G (p.Ser140=) | |
10 | g.79557566G= | CA1922244460 | SFTPA2 | c.390C= (p.Ser130=) c.441C= (p.Ser147=) c.420C= (p.Ser140=) | |
10 | g.79557566G>T | CA470414773 | SFTPA2 | c.390C>A (p.Ser130=) c.441C>A (p.Ser147=) c.420C>A (p.Ser140=) | |
10 | g.79557567G>A | CA377353349 | SFTPA2 | c.389C>T (p.Ser130Phe) c.440C>T (p.Ser147Phe) c.419C>T (p.Ser140Phe) | gnomAD v4 |
10 | g.79557567G>C | CA377353350 | SFTPA2 | c.389C>G (p.Ser130Cys) c.440C>G (p.Ser147Cys) c.419C>G (p.Ser140Cys) | dbSNP |
10 | g.79557567G= | CA1922244461 | SFTPA2 | c.389C= (p.Ser130=) c.440C= (p.Ser147=) c.419C= (p.Ser140=) | |
10 | g.79557567G>T | CA377353351 | SFTPA2 | c.389C>A (p.Ser130Tyr) c.440C>A (p.Ser147Tyr) c.419C>A (p.Ser140Tyr) | |
10 | g.79557568A>C | CA377353352 | SFTPA2 | c.388T>G (p.Ser130Ala) c.439T>G (p.Ser147Ala) c.418T>G (p.Ser140Ala) | |
10 | g.79557568A>G | CA377353353 | SFTPA2 | c.388T>C (p.Ser130Pro) c.439T>C (p.Ser147Pro) c.418T>C (p.Ser140Pro) | |
10 | g.79557568A>T | CA377353354 | SFTPA2 | c.388T>A (p.Ser130Thr) c.439T>A (p.Ser147Thr) c.418T>A (p.Ser140Thr) | |
10 | g.79557569G>A | CA470414787 | SFTPA2 | c.387C>T (p.Gly129=) c.438C>T (p.Gly146=) c.417C>T (p.Gly139=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557569G>C | CA470414788 | SFTPA2 | c.387C>G (p.Gly129=) c.438C>G (p.Gly146=) c.417C>G (p.Gly139=) | |
10 | g.79557569G= | CA1922244462 | SFTPA2 | c.387C= (p.Gly129=) c.438C= (p.Gly146=) c.417C= (p.Gly139=) | |
10 | g.79557569G>T | CA470414790 | SFTPA2 | c.387C>A (p.Gly129=) c.438C>A (p.Gly146=) c.417C>A (p.Gly139=) | |
10 | g.79557570C>A | CA377353355 | SFTPA2 | c.386G>T (p.Gly129Val) c.437G>T (p.Gly146Val) c.416G>T (p.Gly139Val) | |
10 | g.79557570C= | CA1922244463 | SFTPA2 | c.386G= (p.Gly129=) c.437G= (p.Gly146=) c.416G= (p.Gly139=) | |
10 | g.79557570C>G | CA377353356 | SFTPA2 | c.386G>C (p.Gly129Ala) c.437G>C (p.Gly146Ala) c.416G>C (p.Gly139Ala) | |
10 | g.79557570C>T | CA5574047 | SFTPA2 | c.386G>A (p.Gly129Asp) c.437G>A (p.Gly146Asp) c.416G>A (p.Gly139Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557571C>A | CA377353357 | SFTPA2 | c.385G>T (p.Gly129Cys) c.436G>T (p.Gly146Cys) c.415G>T (p.Gly139Cys) | |
10 | g.79557571C>G | CA377353358 | SFTPA2 | c.385G>C (p.Gly129Arg) c.436G>C (p.Gly146Arg) c.415G>C (p.Gly139Arg) | |
10 | g.79557571C>T | CA377353359 | SFTPA2 | c.385G>A (p.Gly129Ser) c.436G>A (p.Gly146Ser) c.415G>A (p.Gly139Ser) | |
10 | g.79557572C>A | CA377353360 | SFTPA2 | c.384G>T (p.Gln128His) c.435G>T (p.Gln145His) c.414G>T (p.Gln138His) | gnomAD v4 |
10 | g.79557572C>G | CA377353361 | SFTPA2 | c.384G>C (p.Gln128His) c.435G>C (p.Gln145His) c.414G>C (p.Gln138His) | |
10 | g.79557572C>T | CA470414800 | SFTPA2 | c.384G>A (p.Gln128=) c.435G>A (p.Gln145=) c.414G>A (p.Gln138=) | gnomAD v4 |
10 | g.79557573T>A | CA377353362 | SFTPA2 | c.383A>T (p.Gln128Leu) c.434A>T (p.Gln145Leu) c.413A>T (p.Gln138Leu) | |
10 | g.79557573T>C | CA377353364 | SFTPA2 | c.383A>G (p.Gln128Arg) c.434A>G (p.Gln145Arg) c.413A>G (p.Gln138Arg) | |
10 | g.79557573T>G | CA377353363 | SFTPA2 | c.383A>C (p.Gln128Pro) c.434A>C (p.Gln145Pro) c.413A>C (p.Gln138Pro) | |
10 | g.79557574G>A | CA5574048 | SFTPA2 | c.382C>T (p.Gln128Ter) c.433C>T (p.Gln145Ter) c.412C>T (p.Gln138Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.79557574G>C | CA377353365 | SFTPA2 | c.382C>G (p.Gln128Glu) c.433C>G (p.Gln145Glu) c.412C>G (p.Gln138Glu) | |
10 | g.79557574G= | CA1922244464 | SFTPA2 | c.382C= (p.Gln128=) c.433C= (p.Gln145=) c.412C= (p.Gln138=) | |
10 | g.79557574G>T | CA377353366 | SFTPA2 | c.382C>A (p.Gln128Lys) c.433C>A (p.Gln145Lys) c.412C>A (p.Gln138Lys) | COSMIC |
10 | g.79557575C>A | CA470414808 | SFTPA2 | c.381G>T (p.Leu127=) c.432G>T (p.Leu144=) c.411G>T (p.Leu137=) | |
10 | g.79557575C= | CA1922244465 | SFTPA2 | c.381G= (p.Leu127=) c.432G= (p.Leu144=) c.411G= (p.Leu137=) | |
10 | g.79557575C>G | CA470414810 | SFTPA2 | c.381G>C (p.Leu127=) c.432G>C (p.Leu144=) c.411G>C (p.Leu137=) | |
10 | g.79557575C>T | CA470414812 | SFTPA2 | c.381G>A (p.Leu127=) c.432G>A (p.Leu144=) c.411G>A (p.Leu137=) | dbSNP gnomAD v4 |
10 | g.79557576A>C | CA377353367 | SFTPA2 | c.380T>G (p.Leu127Arg) c.431T>G (p.Leu144Arg) c.410T>G (p.Leu137Arg) | |
10 | g.79557576A>G | CA377353368 | SFTPA2 | c.380T>C (p.Leu127Pro) c.431T>C (p.Leu144Pro) c.410T>C (p.Leu137Pro) | |
10 | g.79557576A>T | CA377353369 | SFTPA2 | c.380T>A (p.Leu127Gln) c.431T>A (p.Leu144Gln) c.410T>A (p.Leu137Gln) | |
10 | g.79557577G>A | CA470414819 | SFTPA2 | c.379C>T (p.Leu127=) c.430C>T (p.Leu144=) c.409C>T (p.Leu137=) | |
10 | g.79557577G>C | CA377353370 | SFTPA2 | c.379C>G (p.Leu127Val) c.430C>G (p.Leu144Val) c.409C>G (p.Leu137Val) | |
10 | g.79557577G>T | CA377353371 | SFTPA2 | c.379C>A (p.Leu127Met) c.430C>A (p.Leu144Met) c.409C>A (p.Leu137Met) | gnomAD v4 |
10 | g.79557578A>C | CA377353372 | SFTPA2 | c.378T>G (p.Ser126Arg) c.429T>G (p.Ser143Arg) c.408T>G (p.Ser136Arg) | |
10 | g.79557578A>G | CA470414824 | SFTPA2 | c.378T>C (p.Ser126=) c.429T>C (p.Ser143=) c.408T>C (p.Ser136=) | |
10 | g.79557578A>T | CA377353373 | SFTPA2 | c.378T>A (p.Ser126Arg) c.429T>A (p.Ser143Arg) c.408T>A (p.Ser136Arg) | |
10 | g.79557579C>A | CA377353374 | SFTPA2 | c.377G>T (p.Ser126Ile) c.428G>T (p.Ser143Ile) c.407G>T (p.Ser136Ile) | |
10 | g.79557579C>G | CA377353375 | SFTPA2 | c.377G>C (p.Ser126Thr) c.428G>C (p.Ser143Thr) c.407G>C (p.Ser136Thr) | |
10 | g.79557579C>T | CA377353376 | SFTPA2 | c.377G>A (p.Ser126Asn) c.428G>A (p.Ser143Asn) c.407G>A (p.Ser136Asn) | |
10 | g.79557580T>A | CA377353379 | SFTPA2 | c.376A>T (p.Ser126Cys) c.427A>T (p.Ser143Cys) c.406A>T (p.Ser136Cys) | |
10 | g.79557580T>C | CA377353377 | SFTPA2 | c.376A>G (p.Ser126Gly) c.427A>G (p.Ser143Gly) c.406A>G (p.Ser136Gly) | |
10 | g.79557580T>G | CA377353378 | SFTPA2 | c.376A>C (p.Ser126Arg) c.427A>C (p.Ser143Arg) c.406A>C (p.Ser136Arg) | |
10 | g.79557581G>A | CA470414833 | SFTPA2 | c.375C>T (p.Leu125=) c.426C>T (p.Leu142=) c.405C>T (p.Leu135=) | |
10 | g.79557581G>C | CA470414834 | SFTPA2 | c.375C>G (p.Leu125=) c.426C>G (p.Leu142=) c.405C>G (p.Leu135=) | gnomAD v4 |
10 | g.79557581G>T | CA470414836 | SFTPA2 | c.375C>A (p.Leu125=) c.426C>A (p.Leu142=) c.405C>A (p.Leu135=) | |
10 | g.79557582A>C | CA377353380 | SFTPA2 | c.374T>G (p.Leu125Arg) c.425T>G (p.Leu142Arg) c.404T>G (p.Leu135Arg) | |
10 | g.79557582A>G | CA377353381 | SFTPA2 | c.374T>C (p.Leu125Pro) c.425T>C (p.Leu142Pro) c.404T>C (p.Leu135Pro) | |
10 | g.79557582A>T | CA377353382 | SFTPA2 | c.374T>A (p.Leu125His) c.425T>A (p.Leu142His) c.404T>A (p.Leu135His) | |
10 | g.79557583G>A | CA377353383 | SFTPA2 | c.373C>T (p.Leu125Phe) c.424C>T (p.Leu142Phe) c.403C>T (p.Leu135Phe) | gnomAD v4 |
10 | g.79557583G>C | CA377353384 | SFTPA2 | c.373C>G (p.Leu125Val) c.424C>G (p.Leu142Val) c.403C>G (p.Leu135Val) | |
10 | g.79557583G>T | CA377353385 | SFTPA2 | c.373C>A (p.Leu125Ile) c.424C>A (p.Leu142Ile) c.403C>A (p.Leu135Ile) | |
10 | g.79557584G>A | CA470414850 | SFTPA2 | c.372C>T (p.Ala124=) c.423C>T (p.Ala141=) c.402C>T (p.Ala134=) | gnomAD v4 |
10 | g.79557584G>C | CA470414848 | SFTPA2 | c.372C>G (p.Ala124=) c.423C>G (p.Ala141=) c.402C>G (p.Ala134=) | gnomAD v4 |
10 | g.79557584G>T | CA470414845 | SFTPA2 | c.372C>A (p.Ala124=) c.423C>A (p.Ala141=) c.402C>A (p.Ala134=) | |
10 | g.79557585G>A | CA377353386 | SFTPA2 | c.371C>T (p.Ala124Val) c.422C>T (p.Ala141Val) c.401C>T (p.Ala134Val) | ClinVar gnomAD v4 |
10 | g.79557585G>C | CA377353387 | SFTPA2 | c.371C>G (p.Ala124Gly) c.422C>G (p.Ala141Gly) c.401C>G (p.Ala134Gly) | |
10 | g.79557585G>T | CA377353388 | SFTPA2 | c.371C>A (p.Ala124Asp) c.422C>A (p.Ala141Asp) c.401C>A (p.Ala134Asp) | |
10 | g.79557586C>A | CA377353389 | SFTPA2 | c.371-1G>T (n.371-1G>T) c.422-1G>T (n.422-1G>T) c.401-1G>T (n.401-1G>T) | |
10 | g.79557586C= | CA1922244466 | SFTPA2 | c.371-1G= (n.371-1G=) c.422-1G= (n.422-1G=) c.401-1G= (n.401-1G=) | |
10 | g.79557586C>G | CA377353390 | SFTPA2 | c.371-1G>C (n.371-1G>C) c.422-1G>C (n.422-1G>C) c.401-1G>C (n.401-1G>C) | gnomAD v4 |
10 | g.79557586C>T | CA377353391 | SFTPA2 | c.371-1G>A (n.371-1G>A) c.422-1G>A (n.422-1G>A) c.401-1G>A (n.401-1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557587T>A | CA377353393 | SFTPA2 | c.371-2A>T (n.371-2A>T) c.422-2A>T (n.422-2A>T) c.401-2A>T (n.401-2A>T) | |
10 | g.79557587T>C | CA377353394 | SFTPA2 | c.371-2A>G (n.371-2A>G) c.422-2A>G (n.422-2A>G) c.401-2A>G (n.401-2A>G) | |
10 | g.79557587T>G | CA377353392 | SFTPA2 | c.371-2A>C (n.371-2A>C) c.422-2A>C (n.422-2A>C) c.401-2A>C (n.401-2A>C) | |
10 | g.79557590G>C | CA1922244468 | SFTPA2 | c.371-5C>G (n.371-5C>G) c.422-5C>G (n.422-5C>G) c.401-5C>G (n.401-5C>G) | dbSNP gnomAD v4 |
10 | g.79557590G= | CA1922244467 | SFTPA2 | c.371-5C= (n.371-5C=) c.422-5C= (n.422-5C=) c.401-5C= (n.401-5C=) | |
10 | g.79557591A= | CA1922244469 | SFTPA2 | c.371-6T= (n.371-6T=) c.422-6T= (n.422-6T=) c.401-6T= (n.401-6T=) | |
10 | g.79557591A>G | CA2609869172 | SFTPA2 | c.371-6T>C (n.371-6T>C) c.422-6T>C (n.422-6T>C) c.401-6T>C (n.401-6T>C) | gnomAD v4 |
10 | g.79557591A>T | CA594711240 | SFTPA2 | c.371-6T>A (n.371-6T>A) c.422-6T>A (n.422-6T>A) c.401-6T>A (n.401-6T>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.79557592G>T | CA2609869173 | SFTPA2 | c.371-7C>A (n.371-7C>A) c.422-7C>A (n.422-7C>A) c.401-7C>A (n.401-7C>A) | gnomAD v4 |
10 | g.79557593C= | CA1922244470 | SFTPA2 | c.371-8G= (n.371-8G=) c.422-8G= (n.422-8G=) c.401-8G= (n.401-8G=) | |
10 | g.79557593C>T | CA594711241 | SFTPA2 | c.371-8G>A (n.371-8G>A) c.422-8G>A (n.422-8G>A) c.401-8G>A (n.401-8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557594A>G | CA2609869174 | SFTPA2 | c.371-9T>C (n.371-9T>C) c.422-9T>C (n.422-9T>C) c.401-9T>C (n.401-9T>C) | gnomAD v4 |
10 | g.79557594_79557597delinsAGAG | CA1922244471 | SFTPA2 | c.371-12_371-9delinsCTCT (n.371-12_371-9delinsCTCT) c.422-12_422-9delinsCTCT (n.422-12_422-9delinsCTCT) c.401-12_401-9delinsCTCT (n.401-12_401-9delinsCTCT) | |
10 | g.79557596_79557597del | CA2609869175 | SFTPA2 | c.371-10_371-9del (n.371-10_371-9del) c.422-10_422-9del (n.422-10_422-9del) c.401-10_401-9del (n.401-10_401-9del) | gnomAD v4 |
10 | g.79557595G>A | CA210248453 | SFTPA2 | c.371-10C>T (n.371-10C>T) c.422-10C>T (n.422-10C>T) c.401-10C>T (n.401-10C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.79557595G= | CA1922244473 | SFTPA2 | c.371-10C= (n.371-10C=) c.422-10C= (n.422-10C=) c.401-10C= (n.401-10C=) | |
10 | g.79557598_79557600del | CA1922244472 | SFTPA2 | c.371-12_371-10del (n.371-12_371-10del) c.422-12_422-10del (n.422-12_422-10del) c.401-12_401-10del (n.401-12_401-10del) | dbSNP |
10 | g.79557597G>C | CA2574596519 | SFTPA2 | c.371-12C>G (n.371-12C>G) c.422-12C>G (n.422-12C>G) c.401-12C>G (n.401-12C>G) | |
10 | g.79557598G>A | CA2574596520 | SFTPA2 | c.371-13C>T (n.371-13C>T) c.422-13C>T (n.422-13C>T) c.401-13C>T (n.401-13C>T) | gnomAD v4 |
10 | g.79557598G>C | CA5574049 | SFTPA2 | c.371-13C>G (n.371-13C>G) c.422-13C>G (n.422-13C>G) c.401-13C>G (n.401-13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.79557598G= | CA1922244474 | SFTPA2 | c.371-13C= (n.371-13C=) c.422-13C= (n.422-13C=) c.401-13C= (n.401-13C=) | |
10 | g.79557598G>T | CA2609869177 | SFTPA2 | c.371-13C>A (n.371-13C>A) c.422-13C>A (n.422-13C>A) c.401-13C>A (n.401-13C>A) | gnomAD v4 |