| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081457_24081476dup | CA2624298556 | NRL | c.476_495dup (p.Thr166GlyfsTer2) c.59_78dup (p.Thr27GlyfsTer2) c.575_594dup (p.Thr199GlyfsTer2) c.260_279dup (p.Thr94GlyfsTer2) c.161_180dup (p.Thr61GlyfsTer2) c.782_801dup (p.Thr268GlyfsTer2) c.467_486dup (p.Thr163GlyfsTer2) | gnomAD v4 |
| 14 | g.24081457_24081477delinsGGCGCCTCTGCTTCAGCCGCA | CA2123777720 | NRL | c.473_493delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu158=) c.56_76delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu19=) c.572_592delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu191=) c.257_277delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu86=) c.158_178delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu53=) c.779_799delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu260=) c.464_484delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu155=) | |
| 14 | g.24081465_24081484dup | CA2624298569 | NRL | c.473_492dup (p.Arg165CysfsTer3) c.56_75dup (p.Arg26CysfsTer3) c.572_591dup (p.Arg198CysfsTer3) c.257_276dup (p.Arg93CysfsTer3) c.158_177dup (p.Arg60CysfsTer3) c.779_798dup (p.Arg267CysfsTer3) c.464_483dup (p.Arg162CysfsTer3) | gnomAD v4 |
| 14 | g.24081465_24081484del | CA613319080 | NRL | c.473_492del (p.Leu158ProfsTer?) c.56_75del (p.Leu19ProfsTer?) c.572_591del (p.Leu191ProfsTer?) c.257_276del (p.Leu86ProfsTer?) c.158_177del (p.Leu53ProfsTer?) c.779_798del (p.Leu260ProfsTer?) c.464_483del (p.Leu155ProfsTer?) | dbSNP gnomAD v2 |
| 14 | g.24081463T>A | CA389278189 | NRL | c.487A>T (p.Arg163Trp) c.70A>T (p.Arg24Trp) c.586A>T (p.Arg196Trp) c.271A>T (p.Arg91Trp) c.172A>T (p.Arg58Trp) c.793A>T (p.Arg265Trp) c.478A>T (p.Arg160Trp) | dbSNP gnomAD v4 |
| 14 | g.24081463T>C | CA389278193 | NRL | c.487A>G (p.Arg163Gly) c.70A>G (p.Arg24Gly) c.586A>G (p.Arg196Gly) c.271A>G (p.Arg91Gly) c.172A>G (p.Arg58Gly) c.793A>G (p.Arg265Gly) c.478A>G (p.Arg160Gly) | gnomAD v4 |
| 14 | g.24081463T>G | CA485775942 | NRL | c.487A>C (p.Arg163=) c.70A>C (p.Arg24=) c.586A>C (p.Arg196=) c.271A>C (p.Arg91=) c.172A>C (p.Arg58=) c.793A>C (p.Arg265=) c.478A>C (p.Arg160=) | |
| 14 | g.24081463T= | CA2123777737 | NRL | c.487A= (p.Arg163=) c.70A= (p.Arg24=) c.586A= (p.Arg196=) c.271A= (p.Arg91=) c.172A= (p.Arg58=) c.793A= (p.Arg265=) c.478A= (p.Arg160=) | |
| 14 | g.24081464C>A | CA389278198 | NRL | c.486G>T (p.Gln162His) c.69G>T (p.Gln23His) c.585G>T (p.Gln195His) c.270G>T (p.Gln90His) c.171G>T (p.Gln57His) c.792G>T (p.Gln264His) c.477G>T (p.Gln159His) | |
| 14 | g.24081464C>G | CA389278207 | NRL | c.486G>C (p.Gln162His) c.69G>C (p.Gln23His) c.585G>C (p.Gln195His) c.270G>C (p.Gln90His) c.171G>C (p.Gln57His) c.792G>C (p.Gln264His) c.477G>C (p.Gln159His) | |
| 14 | g.24081464C>T | CA485775943 | NRL | c.486G>A (p.Gln162=) c.69G>A (p.Gln23=) c.585G>A (p.Gln195=) c.270G>A (p.Gln90=) c.171G>A (p.Gln57=) c.792G>A (p.Gln264=) c.477G>A (p.Gln159=) | |
| 14 | g.24081465T>A | CA389278209 | NRL | c.485A>T (p.Gln162Leu) c.68A>T (p.Gln23Leu) c.584A>T (p.Gln195Leu) c.269A>T (p.Gln90Leu) c.170A>T (p.Gln57Leu) c.791A>T (p.Gln264Leu) c.476A>T (p.Gln159Leu) | dbSNP gnomAD v2 |
| 14 | g.24081465T>C | CA389278228 | NRL | c.485A>G (p.Gln162Arg) c.68A>G (p.Gln23Arg) c.584A>G (p.Gln195Arg) c.269A>G (p.Gln90Arg) c.170A>G (p.Gln57Arg) c.791A>G (p.Gln264Arg) c.476A>G (p.Gln159Arg) | gnomAD v4 |
| 14 | g.24081465T>G | CA389278235 | NRL | c.485A>C (p.Gln162Pro) c.68A>C (p.Gln23Pro) c.584A>C (p.Gln195Pro) c.269A>C (p.Gln90Pro) c.170A>C (p.Gln57Pro) c.791A>C (p.Gln264Pro) c.476A>C (p.Gln159Pro) | |
| 14 | g.24081465T= | CA2123777743 | NRL | c.485A= (p.Gln162=) c.68A= (p.Gln23=) c.584A= (p.Gln195=) c.269A= (p.Gln90=) c.170A= (p.Gln57=) c.791A= (p.Gln264=) c.476A= (p.Gln159=) | |
| 14 | g.24081466G>A | CA389278238 | NRL | c.484C>T (p.Gln162Ter) c.67C>T (p.Gln23Ter) c.583C>T (p.Gln195Ter) c.268C>T (p.Gln90Ter) c.169C>T (p.Gln57Ter) c.790C>T (p.Gln264Ter) c.475C>T (p.Gln159Ter) | gnomAD v4 |
| 14 | g.24081466G>C | CA389278254 | NRL | c.484C>G (p.Gln162Glu) c.67C>G (p.Gln23Glu) c.583C>G (p.Gln195Glu) c.268C>G (p.Gln90Glu) c.169C>G (p.Gln57Glu) c.790C>G (p.Gln264Glu) c.475C>G (p.Gln159Glu) | |
| 14 | g.24081466G>T | CA389278242 | NRL | c.484C>A (p.Gln162Lys) c.67C>A (p.Gln23Lys) c.583C>A (p.Gln195Lys) c.268C>A (p.Gln90Lys) c.169C>A (p.Gln57Lys) c.790C>A (p.Gln264Lys) c.475C>A (p.Gln159Lys) | gnomAD v4 |
| 14 | g.24081467C>A | CA389278255 | NRL | c.483G>T (p.Lys161Asn) c.66G>T (p.Lys22Asn) c.582G>T (p.Lys194Asn) c.267G>T (p.Lys89Asn) c.168G>T (p.Lys56Asn) c.789G>T (p.Lys263Asn) c.474G>T (p.Lys158Asn) | gnomAD v4 |
| 14 | g.24081467C>G | CA389278258 | NRL | c.483G>C (p.Lys161Asn) c.66G>C (p.Lys22Asn) c.582G>C (p.Lys194Asn) c.267G>C (p.Lys89Asn) c.168G>C (p.Lys56Asn) c.789G>C (p.Lys263Asn) c.474G>C (p.Lys158Asn) | |
| 14 | g.24081467C>T | CA485775949 | NRL | c.483G>A (p.Lys161=) c.66G>A (p.Lys22=) c.582G>A (p.Lys194=) c.267G>A (p.Lys89=) c.168G>A (p.Lys56=) c.789G>A (p.Lys263=) c.474G>A (p.Lys158=) | ClinVar gnomAD v4 |
| 14 | g.24081468T>A | CA389278260 | NRL | c.482A>T (p.Lys161Met) c.65A>T (p.Lys22Met) c.581A>T (p.Lys194Met) c.266A>T (p.Lys89Met) c.167A>T (p.Lys56Met) c.788A>T (p.Lys263Met) c.473A>T (p.Lys158Met) | |
| 14 | g.24081468T>C | CA389278262 | NRL | c.482A>G (p.Lys161Arg) c.65A>G (p.Lys22Arg) c.581A>G (p.Lys194Arg) c.266A>G (p.Lys89Arg) c.167A>G (p.Lys56Arg) c.788A>G (p.Lys263Arg) c.473A>G (p.Lys158Arg) | |
| 14 | g.24081468T>G | CA389278273 | NRL | c.482A>C (p.Lys161Thr) c.65A>C (p.Lys22Thr) c.581A>C (p.Lys194Thr) c.266A>C (p.Lys89Thr) c.167A>C (p.Lys56Thr) c.788A>C (p.Lys263Thr) c.473A>C (p.Lys158Thr) | |
| 14 | g.24081469T>A | CA389278284 | NRL | c.481A>T (p.Lys161Ter) c.64A>T (p.Lys22Ter) c.580A>T (p.Lys194Ter) c.265A>T (p.Lys89Ter) c.166A>T (p.Lys56Ter) c.787A>T (p.Lys263Ter) c.472A>T (p.Lys158Ter) | |
| 14 | g.24081469T>C | CA389278289 | NRL | c.481A>G (p.Lys161Glu) c.64A>G (p.Lys22Glu) c.580A>G (p.Lys194Glu) c.265A>G (p.Lys89Glu) c.166A>G (p.Lys56Glu) c.787A>G (p.Lys263Glu) c.472A>G (p.Lys158Glu) | dbSNP gnomAD v4 |
| 14 | g.24081469T>G | CA389278291 | NRL | c.481A>C (p.Lys161Gln) c.64A>C (p.Lys22Gln) c.580A>C (p.Lys194Gln) c.265A>C (p.Lys89Gln) c.166A>C (p.Lys56Gln) c.787A>C (p.Lys263Gln) c.472A>C (p.Lys158Gln) | |
| 14 | g.24081469T= | CA2123777747 | NRL | c.481A= (p.Lys161=) c.64A= (p.Lys22=) c.580A= (p.Lys194=) c.265A= (p.Lys89=) c.166A= (p.Lys56=) c.787A= (p.Lys263=) c.472A= (p.Lys158=) | |
| 14 | g.24081470C>A | CA485775950 | NRL | c.480G>T (p.Leu160=) c.63G>T (p.Leu21=) c.579G>T (p.Leu193=) c.264G>T (p.Leu88=) c.165G>T (p.Leu55=) c.786G>T (p.Leu262=) c.471G>T (p.Leu157=) | gnomAD v4 |
| 14 | g.24081470C>G | CA485775951 | NRL | c.480G>C (p.Leu160=) c.63G>C (p.Leu21=) c.579G>C (p.Leu193=) c.264G>C (p.Leu88=) c.165G>C (p.Leu55=) c.786G>C (p.Leu262=) c.471G>C (p.Leu157=) | |
| 14 | g.24081470C>T | CA485775952 | NRL | c.480G>A (p.Leu160=) c.63G>A (p.Leu21=) c.579G>A (p.Leu193=) c.264G>A (p.Leu88=) c.165G>A (p.Leu55=) c.786G>A (p.Leu262=) c.471G>A (p.Leu157=) | gnomAD v4 |
| 14 | g.24081471A= | CA2123777754 | NRL | c.479T= (p.Leu160=) c.62T= (p.Leu21=) c.578T= (p.Leu193=) c.263T= (p.Leu88=) c.164T= (p.Leu55=) c.785T= (p.Leu262=) c.470T= (p.Leu157=) | |
| 14 | g.24081471A>C | CA389278293 | NRL | c.479T>G (p.Leu160Arg) c.62T>G (p.Leu21Arg) c.578T>G (p.Leu193Arg) c.263T>G (p.Leu88Arg) c.164T>G (p.Leu55Arg) c.785T>G (p.Leu262Arg) c.470T>G (p.Leu157Arg) | |
| 14 | g.24081471A>G | CA123731 | NRL | c.479T>C (p.Leu160Pro) c.62T>C (p.Leu21Pro) c.578T>C (p.Leu193Pro) c.263T>C (p.Leu88Pro) c.164T>C (p.Leu55Pro) c.785T>C (p.Leu262Pro) c.470T>C (p.Leu157Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081471A>T | CA389278300 | NRL | c.479T>A (p.Leu160Gln) c.62T>A (p.Leu21Gln) c.578T>A (p.Leu193Gln) c.263T>A (p.Leu88Gln) c.164T>A (p.Leu55Gln) c.785T>A (p.Leu262Gln) c.470T>A (p.Leu157Gln) | |
| 14 | g.24081472G>A | CA485775957 | NRL | c.478C>T (p.Leu160=) c.61C>T (p.Leu21=) c.577C>T (p.Leu193=) c.262C>T (p.Leu88=) c.163C>T (p.Leu55=) c.784C>T (p.Leu262=) c.469C>T (p.Leu157=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081472G>C | CA389278312 | NRL | c.478C>G (p.Leu160Val) c.61C>G (p.Leu21Val) c.577C>G (p.Leu193Val) c.262C>G (p.Leu88Val) c.163C>G (p.Leu55Val) c.784C>G (p.Leu262Val) c.469C>G (p.Leu157Val) | |
| 14 | g.24081472G= | CA2123777755 | NRL | c.478C= (p.Leu160=) c.61C= (p.Leu21=) c.577C= (p.Leu193=) c.262C= (p.Leu88=) c.163C= (p.Leu55=) c.784C= (p.Leu262=) c.469C= (p.Leu157=) | |
| 14 | g.24081472G>T | CA389278315 | NRL | c.478C>A (p.Leu160Met) c.61C>A (p.Leu21Met) c.577C>A (p.Leu193Met) c.262C>A (p.Leu88Met) c.163C>A (p.Leu55Met) c.784C>A (p.Leu262Met) c.469C>A (p.Leu157Met) | gnomAD v4 |
| 14 | g.24081473C>A | CA485775964 | NRL | c.477G>T (p.Arg159=) c.60G>T (p.Arg20=) c.576G>T (p.Arg192=) c.261G>T (p.Arg87=) c.162G>T (p.Arg54=) c.783G>T (p.Arg261=) c.468G>T (p.Arg156=) | gnomAD v4 |
| 14 | g.24081473C= | CA2123777760 | NRL | c.477G= (p.Arg159=) c.60G= (p.Arg20=) c.576G= (p.Arg192=) c.261G= (p.Arg87=) c.162G= (p.Arg54=) c.783G= (p.Arg261=) c.468G= (p.Arg156=) | |
| 14 | g.24081473C>G | CA485775965 | NRL | c.477G>C (p.Arg159=) c.60G>C (p.Arg20=) c.576G>C (p.Arg192=) c.261G>C (p.Arg87=) c.162G>C (p.Arg54=) c.783G>C (p.Arg261=) c.468G>C (p.Arg156=) | |
| 14 | g.24081473C>T | CA485775966 | NRL | c.477G>A (p.Arg159=) c.60G>A (p.Arg20=) c.576G>A (p.Arg192=) c.261G>A (p.Arg87=) c.162G>A (p.Arg54=) c.783G>A (p.Arg261=) c.468G>A (p.Arg156=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081480_24081498dup | CA7122825 | NRL | c.459_477dup (p.Leu160AlafsTer?) c.42_60dup (p.Leu21AlafsTer?) c.558_576dup (p.Leu193AlafsTer?) c.243_261dup (p.Leu88AlafsTer?) c.144_162dup (p.Leu55AlafsTer?) c.765_783dup (p.Leu262AlafsTer?) c.450_468dup (p.Leu157AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081473_24081474insGTG | CA2624298620 | NRL | c.476_477insCAC (p.Arg159_Leu160insThr) c.59_60insCAC (p.Arg20_Leu21insThr) c.575_576insCAC (p.Arg192_Leu193insThr) c.260_261insCAC (p.Arg87_Leu88insThr) c.161_162insCAC (p.Arg54_Leu55insThr) c.782_783insCAC (p.Arg261_Leu262insThr) c.467_468insCAC (p.Arg156_Leu157insThr) | gnomAD v4 |
| 14 | g.24081474C>A | CA389278320 | NRL | c.476G>T (p.Arg159Leu) c.59G>T (p.Arg20Leu) c.575G>T (p.Arg192Leu) c.260G>T (p.Arg87Leu) c.161G>T (p.Arg54Leu) c.782G>T (p.Arg261Leu) c.467G>T (p.Arg156Leu) | |
| 14 | g.24081474C= | CA2123777767 | NRL | c.476G= (p.Arg159=) c.59G= (p.Arg20=) c.575G= (p.Arg192=) c.260G= (p.Arg87=) c.161G= (p.Arg54=) c.782G= (p.Arg261=) c.467G= (p.Arg156=) | |
| 14 | g.24081474C>G | CA389278324 | NRL | c.476G>C (p.Arg159Pro) c.59G>C (p.Arg20Pro) c.575G>C (p.Arg192Pro) c.260G>C (p.Arg87Pro) c.161G>C (p.Arg54Pro) c.782G>C (p.Arg261Pro) c.467G>C (p.Arg156Pro) | |
| 14 | g.24081474C>T | CA389278343 | NRL | c.476G>A (p.Arg159Gln) c.59G>A (p.Arg20Gln) c.575G>A (p.Arg192Gln) c.260G>A (p.Arg87Gln) c.161G>A (p.Arg54Gln) c.782G>A (p.Arg261Gln) c.467G>A (p.Arg156Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081475G>A | CA389278349 | NRL | c.475C>T (p.Arg159Trp) c.58C>T (p.Arg20Trp) c.574C>T (p.Arg192Trp) c.259C>T (p.Arg87Trp) c.160C>T (p.Arg54Trp) c.781C>T (p.Arg261Trp) c.466C>T (p.Arg156Trp) | dbSNP gnomAD v4 |
| 14 | g.24081475G>C | CA389278352 | NRL | c.475C>G (p.Arg159Gly) c.58C>G (p.Arg20Gly) c.574C>G (p.Arg192Gly) c.259C>G (p.Arg87Gly) c.160C>G (p.Arg54Gly) c.781C>G (p.Arg261Gly) c.466C>G (p.Arg156Gly) | |
| 14 | g.24081475G= | CA2123777775 | NRL | c.475C= (p.Arg159=) c.58C= (p.Arg20=) c.574C= (p.Arg192=) c.259C= (p.Arg87=) c.160C= (p.Arg54=) c.781C= (p.Arg261=) c.466C= (p.Arg156=) | |
| 14 | g.24081475G>T | CA485775974 | NRL | c.475C>A (p.Arg159=) c.58C>A (p.Arg20=) c.574C>A (p.Arg192=) c.259C>A (p.Arg87=) c.160C>A (p.Arg54=) c.781C>A (p.Arg261=) c.466C>A (p.Arg156=) | gnomAD v4 |
| 14 | g.24081475_24081476insT | CA7122826 | NRL | c.474_475insA (p.Arg159ThrfsTer?) c.57_58insA (p.Arg20ThrfsTer?) c.573_574insA (p.Arg192ThrfsTer?) c.258_259insA (p.Arg87ThrfsTer?) c.159_160insA (p.Arg54ThrfsTer?) c.780_781insA (p.Arg261ThrfsTer?) c.465_466insA (p.Arg156ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081475_24081476insGCGCCTCTGCTTCAGCCT | CA2624298635 | NRL | c.474_475insAGGCTGAAGCAGAGGCGC (p.Leu158_Arg159insArgLeuLysGlnArgArg) c.57_58insAGGCTGAAGCAGAGGCGC (p.Leu19_Arg20insArgLeuLysGlnArgArg) c.573_574insAGGCTGAAGCAGAGGCGC (p.Leu191_Arg192insArgLeuLysGlnArgArg) c.258_259insAGGCTGAAGCAGAGGCGC (p.Leu86_Arg87insArgLeuLysGlnArgArg) c.159_160insAGGCTGAAGCAGAGGCGC (p.Leu53_Arg54insArgLeuLysGlnArgArg) c.780_781insAGGCTGAAGCAGAGGCGC (p.Leu260_Arg261insArgLeuLysGlnArgArg) c.465_466insAGGCTGAAGCAGAGGCGC (p.Leu155_Arg156insArgLeuLysGlnArgArg) | gnomAD v4 |
| 14 | g.24081476C>A | CA485775975 | NRL | c.474G>T (p.Leu158=) c.57G>T (p.Leu19=) c.573G>T (p.Leu191=) c.258G>T (p.Leu86=) c.159G>T (p.Leu53=) c.780G>T (p.Leu260=) c.465G>T (p.Leu155=) | gnomAD v4 |
| 14 | g.24081476C= | CA2123777781 | NRL | c.474G= (p.Leu158=) c.57G= (p.Leu19=) c.573G= (p.Leu191=) c.258G= (p.Leu86=) c.159G= (p.Leu53=) c.780G= (p.Leu260=) c.465G= (p.Leu155=) | |
| 14 | g.24081476C>G | CA485775976 | NRL | c.474G>C (p.Leu158=) c.57G>C (p.Leu19=) c.573G>C (p.Leu191=) c.258G>C (p.Leu86=) c.159G>C (p.Leu53=) c.780G>C (p.Leu260=) c.465G>C (p.Leu155=) | |
| 14 | g.24081476C>T | CA7122827 | NRL | c.474G>A (p.Leu158=) c.57G>A (p.Leu19=) c.573G>A (p.Leu191=) c.258G>A (p.Leu86=) c.159G>A (p.Leu53=) c.780G>A (p.Leu260=) c.465G>A (p.Leu155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081477A= | CA2123777787 | NRL | c.473T= (p.Leu158=) c.56T= (p.Leu19=) c.572T= (p.Leu191=) c.257T= (p.Leu86=) c.158T= (p.Leu53=) c.779T= (p.Leu260=) c.464T= (p.Leu155=) | |
| 14 | g.24081477A>C | CA389278382 | NRL | c.473T>G (p.Leu158Arg) c.56T>G (p.Leu19Arg) c.572T>G (p.Leu191Arg) c.257T>G (p.Leu86Arg) c.158T>G (p.Leu53Arg) c.779T>G (p.Leu260Arg) c.464T>G (p.Leu155Arg) | |
| 14 | g.24081477A>G | CA389278383 | NRL | c.473T>C (p.Leu158Pro) c.56T>C (p.Leu19Pro) c.572T>C (p.Leu191Pro) c.257T>C (p.Leu86Pro) c.158T>C (p.Leu53Pro) c.779T>C (p.Leu260Pro) c.464T>C (p.Leu155Pro) | dbSNP gnomAD v4 |
| 14 | g.24081477A>T | CA389278385 | NRL | c.473T>A (p.Leu158Gln) c.56T>A (p.Leu19Gln) c.572T>A (p.Leu191Gln) c.257T>A (p.Leu86Gln) c.158T>A (p.Leu53Gln) c.779T>A (p.Leu260Gln) c.464T>A (p.Leu155Gln) | |
| 14 | g.24081478G>A | CA485775977 | NRL | c.472C>T (p.Leu158=) c.55C>T (p.Leu19=) c.571C>T (p.Leu191=) c.256C>T (p.Leu86=) c.157C>T (p.Leu53=) c.778C>T (p.Leu260=) c.463C>T (p.Leu155=) | gnomAD v4 |
| 14 | g.24081478G>C | CA389278388 | NRL | c.472C>G (p.Leu158Val) c.55C>G (p.Leu19Val) c.571C>G (p.Leu191Val) c.256C>G (p.Leu86Val) c.157C>G (p.Leu53Val) c.778C>G (p.Leu260Val) c.463C>G (p.Leu155Val) | |
| 14 | g.24081478G>T | CA389278396 | NRL | c.472C>A (p.Leu158Met) c.55C>A (p.Leu19Met) c.571C>A (p.Leu191Met) c.256C>A (p.Leu86Met) c.157C>A (p.Leu53Met) c.778C>A (p.Leu260Met) c.463C>A (p.Leu155Met) | gnomAD v4 |
| 14 | g.24081479C>A | CA485775980 | NRL | c.471G>T (p.Ala157=) c.54G>T (p.Ala18=) c.570G>T (p.Ala190=) c.255G>T (p.Ala85=) c.156G>T (p.Ala52=) c.777G>T (p.Ala259=) c.462G>T (p.Ala154=) | gnomAD v4 |
| 14 | g.24081479C>G | CA485775981 | NRL | c.471G>C (p.Ala157=) c.54G>C (p.Ala18=) c.570G>C (p.Ala190=) c.255G>C (p.Ala85=) c.156G>C (p.Ala52=) c.777G>C (p.Ala259=) c.462G>C (p.Ala154=) | |
| 14 | g.24081479C>T | CA485775979 | NRL | c.471G>A (p.Ala157=) c.54G>A (p.Ala18=) c.570G>A (p.Ala190=) c.255G>A (p.Ala85=) c.156G>A (p.Ala52=) c.777G>A (p.Ala259=) c.462G>A (p.Ala154=) | gnomAD v4 |
| 14 | g.24081480G>A | CA389278409 | NRL | c.470C>T (p.Ala157Val) c.53C>T (p.Ala18Val) c.569C>T (p.Ala190Val) c.254C>T (p.Ala85Val) c.155C>T (p.Ala52Val) c.776C>T (p.Ala259Val) c.461C>T (p.Ala154Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081480G>C | CA257868097 | NRL | c.470C>G (p.Ala157Gly) c.53C>G (p.Ala18Gly) c.569C>G (p.Ala190Gly) c.254C>G (p.Ala85Gly) c.155C>G (p.Ala52Gly) c.776C>G (p.Ala259Gly) c.461C>G (p.Ala154Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081480G= | CA2123777795 | NRL | c.470C= (p.Ala157=) c.53C= (p.Ala18=) c.569C= (p.Ala190=) c.254C= (p.Ala85=) c.155C= (p.Ala52=) c.776C= (p.Ala259=) c.461C= (p.Ala154=) | |
| 14 | g.24081480G>T | CA389278400 | NRL | c.470C>A (p.Ala157Glu) c.53C>A (p.Ala18Glu) c.569C>A (p.Ala190Glu) c.254C>A (p.Ala85Glu) c.155C>A (p.Ala52Glu) c.776C>A (p.Ala259Glu) c.461C>A (p.Ala154Glu) | gnomAD v4 |
| 14 | g.24081481C>A | CA389278412 | NRL | c.469G>T (p.Ala157Ser) c.52G>T (p.Ala18Ser) c.568G>T (p.Ala190Ser) c.253G>T (p.Ala85Ser) c.154G>T (p.Ala52Ser) c.775G>T (p.Ala259Ser) c.460G>T (p.Ala154Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081481C= | CA2123777799 | NRL | c.469G= (p.Ala157=) c.52G= (p.Ala18=) c.568G= (p.Ala190=) c.253G= (p.Ala85=) c.154G= (p.Ala52=) c.775G= (p.Ala259=) c.460G= (p.Ala154=) | |
| 14 | g.24081481C>G | CA389278415 | NRL | c.469G>C (p.Ala157Pro) c.52G>C (p.Ala18Pro) c.568G>C (p.Ala190Pro) c.253G>C (p.Ala85Pro) c.154G>C (p.Ala52Pro) c.775G>C (p.Ala259Pro) c.460G>C (p.Ala154Pro) | |
| 14 | g.24081481C>T | CA389278413 | NRL | c.469G>A (p.Ala157Thr) c.52G>A (p.Ala18Thr) c.568G>A (p.Ala190Thr) c.253G>A (p.Ala85Thr) c.154G>A (p.Ala52Thr) c.775G>A (p.Ala259Thr) c.460G>A (p.Ala154Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081482C>A | CA389278418 | NRL | c.468G>T (p.Glu156Asp) c.51G>T (p.Glu17Asp) c.567G>T (p.Glu189Asp) c.252G>T (p.Glu84Asp) c.153G>T (p.Glu51Asp) c.774G>T (p.Glu258Asp) c.459G>T (p.Glu153Asp) | gnomAD v4 |
| 14 | g.24081482C= | CA2123777802 | NRL | c.468G= (p.Glu156=) c.51G= (p.Glu17=) c.567G= (p.Glu189=) c.252G= (p.Glu84=) c.153G= (p.Glu51=) c.774G= (p.Glu258=) c.459G= (p.Glu153=) | |
| 14 | g.24081482C>G | CA389278421 | NRL | c.468G>C (p.Glu156Asp) c.51G>C (p.Glu17Asp) c.567G>C (p.Glu189Asp) c.252G>C (p.Glu84Asp) c.153G>C (p.Glu51Asp) c.774G>C (p.Glu258Asp) c.459G>C (p.Glu153Asp) | |
| 14 | g.24081482C>T | CA485775987 | NRL | c.468G>A (p.Glu156=) c.51G>A (p.Glu17=) c.567G>A (p.Glu189=) c.252G>A (p.Glu84=) c.153G>A (p.Glu51=) c.774G>A (p.Glu258=) c.459G>A (p.Glu153=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081483T>A | CA389278429 | NRL | c.467A>T (p.Glu156Val) c.50A>T (p.Glu17Val) c.566A>T (p.Glu189Val) c.251A>T (p.Glu84Val) c.152A>T (p.Glu51Val) c.773A>T (p.Glu258Val) c.458A>T (p.Glu153Val) | gnomAD v4 |
| 14 | g.24081483T>C | CA389278431 | NRL | c.467A>G (p.Glu156Gly) c.50A>G (p.Glu17Gly) c.566A>G (p.Glu189Gly) c.251A>G (p.Glu84Gly) c.152A>G (p.Glu51Gly) c.773A>G (p.Glu258Gly) c.458A>G (p.Glu153Gly) | ClinVar gnomAD v4 |
| 14 | g.24081483T>G | CA389278434 | NRL | c.467A>C (p.Glu156Ala) c.50A>C (p.Glu17Ala) c.566A>C (p.Glu189Ala) c.251A>C (p.Glu84Ala) c.152A>C (p.Glu51Ala) c.773A>C (p.Glu258Ala) c.458A>C (p.Glu153Ala) | |
| 14 | g.24081483T= | CA2123777807 | NRL | c.467A= (p.Glu156=) c.50A= (p.Glu17=) c.566A= (p.Glu189=) c.251A= (p.Glu84=) c.152A= (p.Glu51=) c.773A= (p.Glu258=) c.458A= (p.Glu153=) | |
| 14 | g.24081484C>A | CA389278444 | NRL | c.466G>T (p.Glu156Ter) c.49G>T (p.Glu17Ter) c.565G>T (p.Glu189Ter) c.250G>T (p.Glu84Ter) c.151G>T (p.Glu51Ter) c.772G>T (p.Glu258Ter) c.457G>T (p.Glu153Ter) | gnomAD v4 |
| 14 | g.24081484C= | CA2123777812 | NRL | c.466G= (p.Glu156=) c.49G= (p.Glu17=) c.565G= (p.Glu189=) c.250G= (p.Glu84=) c.151G= (p.Glu51=) c.772G= (p.Glu258=) c.457G= (p.Glu153=) | |
| 14 | g.24081484C>G | CA389278455 | NRL | c.466G>C (p.Glu156Gln) c.49G>C (p.Glu17Gln) c.565G>C (p.Glu189Gln) c.250G>C (p.Glu84Gln) c.151G>C (p.Glu51Gln) c.772G>C (p.Glu258Gln) c.457G>C (p.Glu153Gln) | |
| 14 | g.24081484C>T | CA7122828 | NRL | c.466G>A (p.Glu156Lys) c.49G>A (p.Glu17Lys) c.565G>A (p.Glu189Lys) c.250G>A (p.Glu84Lys) c.151G>A (p.Glu51Lys) c.772G>A (p.Glu258Lys) c.457G>A (p.Glu153Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081485_24081503dup | CA658798201 | NRL | c.448_466dup (p.Glu156AlafsTer?) c.31_49dup (p.Glu17AlafsTer?) c.547_565dup (p.Glu189AlafsTer?) c.232_250dup (p.Glu84AlafsTer?) c.133_151dup (p.Glu51AlafsTer?) c.754_772dup (p.Glu258AlafsTer?) c.439_457dup (p.Glu153AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081485G>A | CA485775990 | NRL | c.465C>T (p.Asp155=) c.48C>T (p.Asp16=) c.564C>T (p.Asp188=) c.249C>T (p.Asp83=) c.150C>T (p.Asp50=) c.771C>T (p.Asp257=) c.456C>T (p.Asp152=) | dbSNP gnomAD v4 |
| 14 | g.24081485G>C | CA389278458 | NRL | c.465C>G (p.Asp155Glu) c.48C>G (p.Asp16Glu) c.564C>G (p.Asp188Glu) c.249C>G (p.Asp83Glu) c.150C>G (p.Asp50Glu) c.771C>G (p.Asp257Glu) c.456C>G (p.Asp152Glu) | gnomAD v4 |
| 14 | g.24081485G= | CA2123777821 | NRL | c.465C= (p.Asp155=) c.48C= (p.Asp16=) c.564C= (p.Asp188=) c.249C= (p.Asp83=) c.150C= (p.Asp50=) c.771C= (p.Asp257=) c.456C= (p.Asp152=) | |
| 14 | g.24081485G>T | CA389278459 | NRL | c.465C>A (p.Asp155Glu) c.48C>A (p.Asp16Glu) c.564C>A (p.Asp188Glu) c.249C>A (p.Asp83Glu) c.150C>A (p.Asp50Glu) c.771C>A (p.Asp257Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
| 14 | g.24081486T>A | CA389278461 | NRL | c.464A>T (p.Asp155Val) c.47A>T (p.Asp16Val) c.563A>T (p.Asp188Val) c.248A>T (p.Asp83Val) c.149A>T (p.Asp50Val) c.770A>T (p.Asp257Val) c.455A>T (p.Asp152Val) | |
| 14 | g.24081486T>C | CA389278465 | NRL | c.464A>G (p.Asp155Gly) c.47A>G (p.Asp16Gly) c.563A>G (p.Asp188Gly) c.248A>G (p.Asp83Gly) c.149A>G (p.Asp50Gly) c.770A>G (p.Asp257Gly) c.455A>G (p.Asp152Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081486T>G | CA389278467 | NRL | c.464A>C (p.Asp155Ala) c.47A>C (p.Asp16Ala) c.563A>C (p.Asp188Ala) c.248A>C (p.Asp83Ala) c.149A>C (p.Asp50Ala) c.770A>C (p.Asp257Ala) c.455A>C (p.Asp152Ala) | |
| 14 | g.24081486T= | CA2123777825 | NRL | c.464A= (p.Asp155=) c.47A= (p.Asp16=) c.563A= (p.Asp188=) c.248A= (p.Asp83=) c.149A= (p.Asp50=) c.770A= (p.Asp257=) c.455A= (p.Asp152=) | |
| 14 | g.24081487C>A | CA389278475 | NRL | c.463G>T (p.Asp155Tyr) c.46G>T (p.Asp16Tyr) c.562G>T (p.Asp188Tyr) c.247G>T (p.Asp83Tyr) c.148G>T (p.Asp50Tyr) c.769G>T (p.Asp257Tyr) c.454G>T (p.Asp152Tyr) | gnomAD v4 |
| 14 | g.24081487C>G | CA389278470 | NRL | c.463G>C (p.Asp155His) c.46G>C (p.Asp16His) c.562G>C (p.Asp188His) c.247G>C (p.Asp83His) c.148G>C (p.Asp50His) c.769G>C (p.Asp257His) c.454G>C (p.Asp152His) | gnomAD v4 COSMIC |
| 14 | g.24081487C>T | CA389278471 | NRL | c.463G>A (p.Asp155Asn) c.46G>A (p.Asp16Asn) c.562G>A (p.Asp188Asn) c.247G>A (p.Asp83Asn) c.148G>A (p.Asp50Asn) c.769G>A (p.Asp257Asn) c.454G>A (p.Asp152Asn) | gnomAD v4 |
| 14 | g.24081488G>A | CA485775998 | NRL | c.462C>T (p.Arg154=) c.45C>T (p.Arg15=) c.561C>T (p.Arg187=) c.246C>T (p.Arg82=) c.147C>T (p.Arg49=) c.768C>T (p.Arg256=) c.453C>T (p.Arg151=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081488G>C | CA485775999 | NRL | c.462C>G (p.Arg154=) c.45C>G (p.Arg15=) c.561C>G (p.Arg187=) c.246C>G (p.Arg82=) c.147C>G (p.Arg49=) c.768C>G (p.Arg256=) c.453C>G (p.Arg151=) | |
| 14 | g.24081488G= | CA2123777830 | NRL | c.462C= (p.Arg154=) c.45C= (p.Arg15=) c.561C= (p.Arg187=) c.246C= (p.Arg82=) c.147C= (p.Arg49=) c.768C= (p.Arg256=) c.453C= (p.Arg151=) | |
| 14 | g.24081488G>T | CA7122829 | NRL | c.462C>A (p.Arg154=) c.45C>A (p.Arg15=) c.561C>A (p.Arg187=) c.246C>A (p.Arg82=) c.147C>A (p.Arg49=) c.768C>A (p.Arg256=) c.453C>A (p.Arg151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081488_24081509delinsGCGCCCGCAGCCCCGCAGCTGC | CA2123777834 | NRL | c.441_462delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg147=) c.24_45delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg8=) c.540_561delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg180=) c.225_246delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg75=) c.126_147delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg42=) c.747_768delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg249=) c.432_453delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg144=) | |
| 14 | g.24081489C>A | CA7122830 | NRL | c.461G>T (p.Arg154Leu) c.44G>T (p.Arg15Leu) c.560G>T (p.Arg187Leu) c.245G>T (p.Arg82Leu) c.146G>T (p.Arg49Leu) c.767G>T (p.Arg256Leu) c.452G>T (p.Arg151Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081489C= | CA2123777841 | NRL | c.461G= (p.Arg154=) c.44G= (p.Arg15=) c.560G= (p.Arg187=) c.245G= (p.Arg82=) c.146G= (p.Arg49=) c.767G= (p.Arg256=) c.452G= (p.Arg151=) | |
| 14 | g.24081489C>G | CA389278487 | NRL | c.461G>C (p.Arg154Pro) c.44G>C (p.Arg15Pro) c.560G>C (p.Arg187Pro) c.245G>C (p.Arg82Pro) c.146G>C (p.Arg49Pro) c.767G>C (p.Arg256Pro) c.452G>C (p.Arg151Pro) | |
| 14 | g.24081489C>T | CA389278490 | NRL | c.461G>A (p.Arg154His) c.44G>A (p.Arg15His) c.560G>A (p.Arg187His) c.245G>A (p.Arg82His) c.146G>A (p.Arg49His) c.767G>A (p.Arg256His) c.452G>A (p.Arg151His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081491_24081511del | CA613319081 | NRL | c.441_461del (p.Gln148_Arg154del) c.24_44del (p.Gln9_Arg15del) c.540_560del (p.Gln181_Arg187del) c.225_245del (p.Gln76_Arg82del) c.126_146del (p.Gln43_Arg49del) c.747_767del (p.Gln250_Arg256del) c.432_452del (p.Gln145_Arg151del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081490G>A | CA389278498 | NRL | c.460C>T (p.Arg154Cys) c.43C>T (p.Arg15Cys) c.559C>T (p.Arg187Cys) c.244C>T (p.Arg82Cys) c.145C>T (p.Arg49Cys) c.766C>T (p.Arg256Cys) c.451C>T (p.Arg151Cys) | dbSNP gnomAD v4 |
| 14 | g.24081490G>C | CA389278501 | NRL | c.460C>G (p.Arg154Gly) c.43C>G (p.Arg15Gly) c.559C>G (p.Arg187Gly) c.244C>G (p.Arg82Gly) c.145C>G (p.Arg49Gly) c.766C>G (p.Arg256Gly) c.451C>G (p.Arg151Gly) | |
| 14 | g.24081490G= | CA2123777846 | NRL | c.460C= (p.Arg154=) c.43C= (p.Arg15=) c.559C= (p.Arg187=) c.244C= (p.Arg82=) c.145C= (p.Arg49=) c.766C= (p.Arg256=) c.451C= (p.Arg151=) | |
| 14 | g.24081490G>T | CA389278503 | NRL | c.460C>A (p.Arg154Ser) c.43C>A (p.Arg15Ser) c.559C>A (p.Arg187Ser) c.244C>A (p.Arg82Ser) c.145C>A (p.Arg49Ser) c.766C>A (p.Arg256Ser) c.451C>A (p.Arg151Ser) | gnomAD v4 |
| 14 | g.24081490_24081498delinsGCCCGCAGC | CA2123777847 | NRL | c.452_460delinsGCTGCGGGC (p.Gly151=) c.35_43delinsGCTGCGGGC (p.Gly12=) c.551_559delinsGCTGCGGGC (p.Gly184=) c.236_244delinsGCTGCGGGC (p.Gly79=) c.137_145delinsGCTGCGGGC (p.Gly46=) c.758_766delinsGCTGCGGGC (p.Gly253=) c.443_451delinsGCTGCGGGC (p.Gly148=) | |
| 14 | g.24081491C>A | CA485776004 | NRL | c.459G>T (p.Gly153=) c.42G>T (p.Gly14=) c.558G>T (p.Gly186=) c.243G>T (p.Gly81=) c.144G>T (p.Gly48=) c.765G>T (p.Gly255=) c.450G>T (p.Gly150=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081491C= | CA2123777852 | NRL | c.459G= (p.Gly153=) c.42G= (p.Gly14=) c.558G= (p.Gly186=) c.243G= (p.Gly81=) c.144G= (p.Gly48=) c.765G= (p.Gly255=) c.450G= (p.Gly150=) | |
| 14 | g.24081491C>G | CA485776006 | NRL | c.459G>C (p.Gly153=) c.42G>C (p.Gly14=) c.558G>C (p.Gly186=) c.243G>C (p.Gly81=) c.144G>C (p.Gly48=) c.765G>C (p.Gly255=) c.450G>C (p.Gly150=) | |
| 14 | g.24081491C>T | CA485776007 | NRL | c.459G>A (p.Gly153=) c.42G>A (p.Gly14=) c.558G>A (p.Gly186=) c.243G>A (p.Gly81=) c.144G>A (p.Gly48=) c.765G>A (p.Gly255=) c.450G>A (p.Gly150=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081499_24081506dup | CA2575490424 | NRL | c.452_459dup (p.Arg154AlafsTer10) c.35_42dup (p.Arg15AlafsTer10) c.551_558dup (p.Arg187AlafsTer10) c.236_243dup (p.Arg82AlafsTer10) c.137_144dup (p.Arg49AlafsTer10) c.758_765dup (p.Arg256AlafsTer10) c.443_450dup (p.Arg151AlafsTer10) | |
| 14 | g.24081499_24081506del | CA2123777850 | NRL | c.452_459del (p.Gly151AlafsTer?) c.35_42del (p.Gly12AlafsTer?) c.551_558del (p.Gly184AlafsTer?) c.236_243del (p.Gly79AlafsTer?) c.137_144del (p.Gly46AlafsTer?) c.758_765del (p.Gly253AlafsTer?) c.443_450del (p.Gly148AlafsTer?) | dbSNP gnomAD v4 |
| 14 | g.24081492C>A | CA389278504 | NRL | c.458G>T (p.Gly153Val) c.41G>T (p.Gly14Val) c.557G>T (p.Gly186Val) c.242G>T (p.Gly81Val) c.143G>T (p.Gly48Val) c.764G>T (p.Gly255Val) c.449G>T (p.Gly150Val) | gnomAD v4 |
| 14 | g.24081492C= | CA2123777860 | NRL | c.458G= (p.Gly153=) c.41G= (p.Gly14=) c.557G= (p.Gly186=) c.242G= (p.Gly81=) c.143G= (p.Gly48=) c.764G= (p.Gly255=) c.449G= (p.Gly150=) | |
| 14 | g.24081492C>G | CA389278506 | NRL | c.458G>C (p.Gly153Ala) c.41G>C (p.Gly14Ala) c.557G>C (p.Gly186Ala) c.242G>C (p.Gly81Ala) c.143G>C (p.Gly48Ala) c.764G>C (p.Gly255Ala) c.449G>C (p.Gly150Ala) | |
| 14 | g.24081492C>T | CA389278507 | NRL | c.458G>A (p.Gly153Glu) c.41G>A (p.Gly14Glu) c.557G>A (p.Gly186Glu) c.242G>A (p.Gly81Glu) c.143G>A (p.Gly48Glu) c.764G>A (p.Gly255Glu) c.449G>A (p.Gly150Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081493C>A | CA389278509 | NRL | c.457G>T (p.Gly153Trp) c.40G>T (p.Gly14Trp) c.556G>T (p.Gly186Trp) c.241G>T (p.Gly81Trp) c.142G>T (p.Gly48Trp) c.763G>T (p.Gly255Trp) c.448G>T (p.Gly150Trp) | gnomAD v4 |
| 14 | g.24081493C>G | CA389278511 | NRL | c.457G>C (p.Gly153Arg) c.40G>C (p.Gly14Arg) c.556G>C (p.Gly186Arg) c.241G>C (p.Gly81Arg) c.142G>C (p.Gly48Arg) c.763G>C (p.Gly255Arg) c.448G>C (p.Gly150Arg) | |
| 14 | g.24081493C>T | CA389278508 | NRL | c.457G>A (p.Gly153Arg) c.40G>A (p.Gly14Arg) c.556G>A (p.Gly186Arg) c.241G>A (p.Gly81Arg) c.142G>A (p.Gly48Arg) c.763G>A (p.Gly255Arg) c.448G>A (p.Gly150Arg) | gnomAD v4 |
| 14 | g.24081494G>A | CA485776008 | NRL | c.456C>T (p.Cys152=) c.39C>T (p.Cys13=) c.555C>T (p.Cys185=) c.240C>T (p.Cys80=) c.141C>T (p.Cys47=) c.762C>T (p.Cys254=) c.447C>T (p.Cys149=) | dbSNP gnomAD v4 |
| 14 | g.24081494G>C | CA389278513 | NRL | c.456C>G (p.Cys152Trp) c.39C>G (p.Cys13Trp) c.555C>G (p.Cys185Trp) c.240C>G (p.Cys80Trp) c.141C>G (p.Cys47Trp) c.762C>G (p.Cys254Trp) c.447C>G (p.Cys149Trp) | |
| 14 | g.24081494G= | CA2123777867 | NRL | c.456C= (p.Cys152=) c.39C= (p.Cys13=) c.555C= (p.Cys185=) c.240C= (p.Cys80=) c.141C= (p.Cys47=) c.762C= (p.Cys254=) c.447C= (p.Cys149=) | |
| 14 | g.24081494G>T | CA389278516 | NRL | c.456C>A (p.Cys152Ter) c.39C>A (p.Cys13Ter) c.555C>A (p.Cys185Ter) c.240C>A (p.Cys80Ter) c.141C>A (p.Cys47Ter) c.762C>A (p.Cys254Ter) c.447C>A (p.Cys149Ter) | gnomAD v4 |
| 14 | g.24081495C>A | CA389278518 | NRL | c.455G>T (p.Cys152Phe) c.38G>T (p.Cys13Phe) c.554G>T (p.Cys185Phe) c.239G>T (p.Cys80Phe) c.140G>T (p.Cys47Phe) c.761G>T (p.Cys254Phe) c.446G>T (p.Cys149Phe) | |
| 14 | g.24081495C>G | CA389278519 | NRL | c.455G>C (p.Cys152Ser) c.38G>C (p.Cys13Ser) c.554G>C (p.Cys185Ser) c.239G>C (p.Cys80Ser) c.140G>C (p.Cys47Ser) c.761G>C (p.Cys254Ser) c.446G>C (p.Cys149Ser) | |
| 14 | g.24081495C>T | CA389278520 | NRL | c.455G>A (p.Cys152Tyr) c.38G>A (p.Cys13Tyr) c.554G>A (p.Cys185Tyr) c.239G>A (p.Cys80Tyr) c.140G>A (p.Cys47Tyr) c.761G>A (p.Cys254Tyr) c.446G>A (p.Cys149Tyr) | gnomAD v4 |
| 14 | g.24081496A= | CA2123777868 | NRL | c.454T= (p.Cys152=) c.37T= (p.Cys13=) c.553T= (p.Cys185=) c.238T= (p.Cys80=) c.139T= (p.Cys47=) c.760T= (p.Cys254=) c.445T= (p.Cys149=) | |
| 14 | g.24081496A>C | CA389278522 | NRL | c.454T>G (p.Cys152Gly) c.37T>G (p.Cys13Gly) c.553T>G (p.Cys185Gly) c.238T>G (p.Cys80Gly) c.139T>G (p.Cys47Gly) c.760T>G (p.Cys254Gly) c.445T>G (p.Cys149Gly) | dbSNP gnomAD v4 |
| 14 | g.24081496A>G | CA389278532 | NRL | c.454T>C (p.Cys152Arg) c.37T>C (p.Cys13Arg) c.553T>C (p.Cys185Arg) c.238T>C (p.Cys80Arg) c.139T>C (p.Cys47Arg) c.760T>C (p.Cys254Arg) c.445T>C (p.Cys149Arg) | gnomAD v4 |
| 14 | g.24081496A>T | CA389278537 | NRL | c.454T>A (p.Cys152Ser) c.37T>A (p.Cys13Ser) c.553T>A (p.Cys185Ser) c.238T>A (p.Cys80Ser) c.139T>A (p.Cys47Ser) c.760T>A (p.Cys254Ser) c.445T>A (p.Cys149Ser) | COSMIC |
| 14 | g.24081497G>A | CA485776015 | NRL | c.453C>T (p.Gly151=) c.36C>T (p.Gly12=) c.552C>T (p.Gly184=) c.237C>T (p.Gly79=) c.138C>T (p.Gly46=) c.759C>T (p.Gly253=) c.444C>T (p.Gly148=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081497G>C | CA485776016 | NRL | c.453C>G (p.Gly151=) c.36C>G (p.Gly12=) c.552C>G (p.Gly184=) c.237C>G (p.Gly79=) c.138C>G (p.Gly46=) c.759C>G (p.Gly253=) c.444C>G (p.Gly148=) | |
| 14 | g.24081497G= | CA2123777871 | NRL | c.453C= (p.Gly151=) c.36C= (p.Gly12=) c.552C= (p.Gly184=) c.237C= (p.Gly79=) c.138C= (p.Gly46=) c.759C= (p.Gly253=) c.444C= (p.Gly148=) | |
| 14 | g.24081497G>T | CA485776017 | NRL | c.453C>A (p.Gly151=) c.36C>A (p.Gly12=) c.552C>A (p.Gly184=) c.237C>A (p.Gly79=) c.138C>A (p.Gly46=) c.759C>A (p.Gly253=) c.444C>A (p.Gly148=) | gnomAD v4 |
| 14 | g.24081498C>A | CA389278542 | NRL | c.452G>T (p.Gly151Val) c.35G>T (p.Gly12Val) c.551G>T (p.Gly184Val) c.236G>T (p.Gly79Val) c.137G>T (p.Gly46Val) c.758G>T (p.Gly253Val) c.443G>T (p.Gly148Val) | gnomAD v4 |
| 14 | g.24081498C= | CA2123777873 | NRL | c.452G= (p.Gly151=) c.35G= (p.Gly12=) c.551G= (p.Gly184=) c.236G= (p.Gly79=) c.137G= (p.Gly46=) c.758G= (p.Gly253=) c.443G= (p.Gly148=) | |
| 14 | g.24081498C>G | CA389278543 | NRL | c.452G>C (p.Gly151Ala) c.35G>C (p.Gly12Ala) c.551G>C (p.Gly184Ala) c.236G>C (p.Gly79Ala) c.137G>C (p.Gly46Ala) c.758G>C (p.Gly253Ala) c.443G>C (p.Gly148Ala) | |
| 14 | g.24081498C>T | CA389278545 | NRL | c.452G>A (p.Gly151Asp) c.35G>A (p.Gly12Asp) c.551G>A (p.Gly184Asp) c.236G>A (p.Gly79Asp) c.137G>A (p.Gly46Asp) c.758G>A (p.Gly253Asp) c.443G>A (p.Gly148Asp) | dbSNP gnomAD v2 |
| 14 | g.24081499C>A | CA389278548 | NRL | c.451G>T (p.Gly151Cys) c.34G>T (p.Gly12Cys) c.550G>T (p.Gly184Cys) c.235G>T (p.Gly79Cys) c.136G>T (p.Gly46Cys) c.757G>T (p.Gly253Cys) c.442G>T (p.Gly148Cys) | gnomAD v4 |
| 14 | g.24081499C= | CA2123777875 | NRL | c.451G= (p.Gly151=) c.34G= (p.Gly12=) c.550G= (p.Gly184=) c.235G= (p.Gly79=) c.136G= (p.Gly46=) c.757G= (p.Gly253=) c.442G= (p.Gly148=) | |
| 14 | g.24081499C>G | CA389278558 | NRL | c.451G>C (p.Gly151Arg) c.34G>C (p.Gly12Arg) c.550G>C (p.Gly184Arg) c.235G>C (p.Gly79Arg) c.136G>C (p.Gly46Arg) c.757G>C (p.Gly253Arg) c.442G>C (p.Gly148Arg) | |
| 14 | g.24081499C>T | CA389278546 | NRL | c.451G>A (p.Gly151Ser) c.34G>A (p.Gly12Ser) c.550G>A (p.Gly184Ser) c.235G>A (p.Gly79Ser) c.136G>A (p.Gly46Ser) c.757G>A (p.Gly253Ser) c.442G>A (p.Gly148Ser) | dbSNP |
| 14 | g.24081500C>A | CA485776019 | NRL | c.450G>T (p.Arg150=) c.33G>T (p.Arg11=) c.549G>T (p.Arg183=) c.234G>T (p.Arg78=) c.135G>T (p.Arg45=) c.756G>T (p.Arg252=) c.441G>T (p.Arg147=) | gnomAD v4 |
| 14 | g.24081500C= | CA2123777879 | NRL | c.450G= (p.Arg150=) c.33G= (p.Arg11=) c.549G= (p.Arg183=) c.234G= (p.Arg78=) c.135G= (p.Arg45=) c.756G= (p.Arg252=) c.441G= (p.Arg147=) | |
| 14 | g.24081500C>G | CA7122831 | NRL | c.450G>C (p.Arg150=) c.33G>C (p.Arg11=) c.549G>C (p.Arg183=) c.234G>C (p.Arg78=) c.135G>C (p.Arg45=) c.756G>C (p.Arg252=) c.441G>C (p.Arg147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081500C>T | CA7122832 | NRL | c.450G>A (p.Arg150=) c.33G>A (p.Arg11=) c.549G>A (p.Arg183=) c.234G>A (p.Arg78=) c.135G>A (p.Arg45=) c.756G>A (p.Arg252=) c.441G>A (p.Arg147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081501C>A | CA389278567 | NRL | c.449G>T (p.Arg150Leu) c.32G>T (p.Arg11Leu) c.548G>T (p.Arg183Leu) c.233G>T (p.Arg78Leu) c.134G>T (p.Arg45Leu) c.755G>T (p.Arg252Leu) c.440G>T (p.Arg147Leu) | gnomAD v4 |
| 14 | g.24081501C>G | CA389278571 | NRL | c.449G>C (p.Arg150Pro) c.32G>C (p.Arg11Pro) c.548G>C (p.Arg183Pro) c.233G>C (p.Arg78Pro) c.134G>C (p.Arg45Pro) c.755G>C (p.Arg252Pro) c.440G>C (p.Arg147Pro) | |
| 14 | g.24081501C>T | CA389278575 | NRL | c.449G>A (p.Arg150Gln) c.32G>A (p.Arg11Gln) c.548G>A (p.Arg183Gln) c.233G>A (p.Arg78Gln) c.134G>A (p.Arg45Gln) c.755G>A (p.Arg252Gln) c.440G>A (p.Arg147Gln) | gnomAD v4 |
| 14 | g.24081502G>A | CA389278579 | NRL | c.448C>T (p.Arg150Trp) c.31C>T (p.Arg11Trp) c.547C>T (p.Arg183Trp) c.232C>T (p.Arg78Trp) c.133C>T (p.Arg45Trp) c.754C>T (p.Arg252Trp) c.439C>T (p.Arg147Trp) | gnomAD v4 |
| 14 | g.24081502G>C | CA389278577 | NRL | c.448C>G (p.Arg150Gly) c.31C>G (p.Arg11Gly) c.547C>G (p.Arg183Gly) c.232C>G (p.Arg78Gly) c.133C>G (p.Arg45Gly) c.754C>G (p.Arg252Gly) c.439C>G (p.Arg147Gly) | |
| 14 | g.24081502G>T | CA485776024 | NRL | c.448C>A (p.Arg150=) c.31C>A (p.Arg11=) c.547C>A (p.Arg183=) c.232C>A (p.Arg78=) c.133C>A (p.Arg45=) c.754C>A (p.Arg252=) c.439C>A (p.Arg147=) | gnomAD v4 |
| 14 | g.24081503C>A | CA485776027 | NRL | c.447G>T (p.Leu149=) c.30G>T (p.Leu10=) c.546G>T (p.Leu182=) c.231G>T (p.Leu77=) c.132G>T (p.Leu44=) c.753G>T (p.Leu251=) c.438G>T (p.Leu146=) | gnomAD v4 |
| 14 | g.24081503C>G | CA485776026 | NRL | c.447G>C (p.Leu149=) c.30G>C (p.Leu10=) c.546G>C (p.Leu182=) c.231G>C (p.Leu77=) c.132G>C (p.Leu44=) c.753G>C (p.Leu251=) c.438G>C (p.Leu146=) | |
| 14 | g.24081503C>T | CA485776025 | NRL | c.447G>A (p.Leu149=) c.30G>A (p.Leu10=) c.546G>A (p.Leu182=) c.231G>A (p.Leu77=) c.132G>A (p.Leu44=) c.753G>A (p.Leu251=) c.438G>A (p.Leu146=) | gnomAD v4 |
| 14 | g.24081504A= | CA2123777885 | NRL | c.446T= (p.Leu149=) c.29T= (p.Leu10=) c.545T= (p.Leu182=) c.230T= (p.Leu77=) c.131T= (p.Leu44=) c.752T= (p.Leu251=) c.437T= (p.Leu146=) | |
| 14 | g.24081504A>C | CA389278582 | NRL | c.446T>G (p.Leu149Arg) c.29T>G (p.Leu10Arg) c.545T>G (p.Leu182Arg) c.230T>G (p.Leu77Arg) c.131T>G (p.Leu44Arg) c.752T>G (p.Leu251Arg) c.437T>G (p.Leu146Arg) | |
| 14 | g.24081504A>G | CA257868123 | NRL | c.446T>C (p.Leu149Pro) c.29T>C (p.Leu10Pro) c.545T>C (p.Leu182Pro) c.230T>C (p.Leu77Pro) c.131T>C (p.Leu44Pro) c.752T>C (p.Leu251Pro) c.437T>C (p.Leu146Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081504A>T | CA389278587 | NRL | c.446T>A (p.Leu149Gln) c.29T>A (p.Leu10Gln) c.545T>A (p.Leu182Gln) c.230T>A (p.Leu77Gln) c.131T>A (p.Leu44Gln) c.752T>A (p.Leu251Gln) c.437T>A (p.Leu146Gln) | |
| 14 | g.24081505G>A | CA485776029 | NRL | c.445C>T (p.Leu149=) c.28C>T (p.Leu10=) c.544C>T (p.Leu182=) c.229C>T (p.Leu77=) c.130C>T (p.Leu44=) c.751C>T (p.Leu251=) c.436C>T (p.Leu146=) | dbSNP gnomAD v4 |
| 14 | g.24081505G>C | CA389278590 | NRL | c.445C>G (p.Leu149Val) c.28C>G (p.Leu10Val) c.544C>G (p.Leu182Val) c.229C>G (p.Leu77Val) c.130C>G (p.Leu44Val) c.751C>G (p.Leu251Val) c.436C>G (p.Leu146Val) | gnomAD v4 |
| 14 | g.24081505G= | CA2123777890 | NRL | c.445C= (p.Leu149=) c.28C= (p.Leu10=) c.544C= (p.Leu182=) c.229C= (p.Leu77=) c.130C= (p.Leu44=) c.751C= (p.Leu251=) c.436C= (p.Leu146=) | |
| 14 | g.24081505G>T | CA389278605 | NRL | c.445C>A (p.Leu149Met) c.28C>A (p.Leu10Met) c.544C>A (p.Leu182Met) c.229C>A (p.Leu77Met) c.130C>A (p.Leu44Met) c.751C>A (p.Leu251Met) c.436C>A (p.Leu146Met) | gnomAD v4 |
| 14 | g.24081506C>A | CA389278611 | NRL | c.444G>T (p.Gln148His) c.27G>T (p.Gln9His) c.543G>T (p.Gln181His) c.228G>T (p.Gln76His) c.129G>T (p.Gln43His) c.750G>T (p.Gln250His) c.435G>T (p.Gln145His) | gnomAD v4 |
| 14 | g.24081506C>G | CA389278613 | NRL | c.444G>C (p.Gln148His) c.27G>C (p.Gln9His) c.543G>C (p.Gln181His) c.228G>C (p.Gln76His) c.129G>C (p.Gln43His) c.750G>C (p.Gln250His) c.435G>C (p.Gln145His) | |
| 14 | g.24081506C>T | CA485776036 | NRL | c.444G>A (p.Gln148=) c.27G>A (p.Gln9=) c.543G>A (p.Gln181=) c.228G>A (p.Gln76=) c.129G>A (p.Gln43=) c.750G>A (p.Gln250=) c.435G>A (p.Gln145=) | gnomAD v4 |
| 14 | g.24081506_24081507insCCGCAGCC | CA915948936 | NRL | c.444_445insGCTGCGGG (p.Leu149AlafsTer15) c.27_28insGCTGCGGG (p.Leu10AlafsTer15) c.543_544insGCTGCGGG (p.Leu182AlafsTer15) c.228_229insGCTGCGGG (p.Leu77AlafsTer15) c.129_130insGCTGCGGG (p.Leu44AlafsTer15) c.750_751insGCTGCGGG (p.Leu251AlafsTer15) c.435_436insGCTGCGGG (p.Leu146AlafsTer15) | ClinVar dbSNP |
| 14 | g.24081507T>A | CA389278620 | NRL | c.443A>T (p.Gln148Leu) c.26A>T (p.Gln9Leu) c.542A>T (p.Gln181Leu) c.227A>T (p.Gln76Leu) c.128A>T (p.Gln43Leu) c.749A>T (p.Gln250Leu) c.434A>T (p.Gln145Leu) | |
| 14 | g.24081507T>C | CA389278631 | NRL | c.443A>G (p.Gln148Arg) c.26A>G (p.Gln9Arg) c.542A>G (p.Gln181Arg) c.227A>G (p.Gln76Arg) c.128A>G (p.Gln43Arg) c.749A>G (p.Gln250Arg) c.434A>G (p.Gln145Arg) | gnomAD v4 |
| 14 | g.24081507T>G | CA389278617 | NRL | c.443A>C (p.Gln148Pro) c.26A>C (p.Gln9Pro) c.542A>C (p.Gln181Pro) c.227A>C (p.Gln76Pro) c.128A>C (p.Gln43Pro) c.749A>C (p.Gln250Pro) c.434A>C (p.Gln145Pro) | gnomAD v4 |
| 14 | g.24081508G>A | CA389278635 | NRL | c.442C>T (p.Gln148Ter) c.25C>T (p.Gln9Ter) c.541C>T (p.Gln181Ter) c.226C>T (p.Gln76Ter) c.127C>T (p.Gln43Ter) c.748C>T (p.Gln250Ter) c.433C>T (p.Gln145Ter) | dbSNP gnomAD v4 |
| 14 | g.24081508G>C | CA389278638 | NRL | c.442C>G (p.Gln148Glu) c.25C>G (p.Gln9Glu) c.541C>G (p.Gln181Glu) c.226C>G (p.Gln76Glu) c.127C>G (p.Gln43Glu) c.748C>G (p.Gln250Glu) c.433C>G (p.Gln145Glu) | |
| 14 | g.24081508G= | CA2123777900 | NRL | c.442C= (p.Gln148=) c.25C= (p.Gln9=) c.541C= (p.Gln181=) c.226C= (p.Gln76=) c.127C= (p.Gln43=) c.748C= (p.Gln250=) c.433C= (p.Gln145=) | |
| 14 | g.24081508G>T | CA389278641 | NRL | c.442C>A (p.Gln148Lys) c.25C>A (p.Gln9Lys) c.541C>A (p.Gln181Lys) c.226C>A (p.Gln76Lys) c.127C>A (p.Gln43Lys) c.748C>A (p.Gln250Lys) c.433C>A (p.Gln145Lys) | gnomAD v4 |
| 14 | g.24081509C>A | CA485776044 | NRL | c.441G>T (p.Arg147=) c.24G>T (p.Arg8=) c.540G>T (p.Arg180=) c.225G>T (p.Arg75=) c.126G>T (p.Arg42=) c.747G>T (p.Arg249=) c.432G>T (p.Arg144=) | |
| 14 | g.24081509C= | CA2123777906 | NRL | c.441G= (p.Arg147=) c.24G= (p.Arg8=) c.540G= (p.Arg180=) c.225G= (p.Arg75=) c.126G= (p.Arg42=) c.747G= (p.Arg249=) c.432G= (p.Arg144=) | |
| 14 | g.24081509C>G | CA485776045 | NRL | c.441G>C (p.Arg147=) c.24G>C (p.Arg8=) c.540G>C (p.Arg180=) c.225G>C (p.Arg75=) c.126G>C (p.Arg42=) c.747G>C (p.Arg249=) c.432G>C (p.Arg144=) | gnomAD v4 |
| 14 | g.24081509C>T | CA7122833 | NRL | c.441G>A (p.Arg147=) c.24G>A (p.Arg8=) c.540G>A (p.Arg180=) c.225G>A (p.Arg75=) c.126G>A (p.Arg42=) c.747G>A (p.Arg249=) c.432G>A (p.Arg144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.24081510C>A | CA257868126 | NRL | c.440G>T (p.Arg147Leu) c.23G>T (p.Arg8Leu) c.539G>T (p.Arg180Leu) c.224G>T (p.Arg75Leu) c.125G>T (p.Arg42Leu) c.746G>T (p.Arg249Leu) c.431G>T (p.Arg144Leu) | dbSNP gnomAD v4 |
| 14 | g.24081510C= | CA2123777911 | NRL | c.440G= (p.Arg147=) c.23G= (p.Arg8=) c.539G= (p.Arg180=) c.224G= (p.Arg75=) c.125G= (p.Arg42=) c.746G= (p.Arg249=) c.431G= (p.Arg144=) | |
| 14 | g.24081510C>G | CA389278657 | NRL | c.440G>C (p.Arg147Pro) c.23G>C (p.Arg8Pro) c.539G>C (p.Arg180Pro) c.224G>C (p.Arg75Pro) c.125G>C (p.Arg42Pro) c.746G>C (p.Arg249Pro) c.431G>C (p.Arg144Pro) | gnomAD v4 |
| 14 | g.24081510C>T | CA389278658 | NRL | c.440G>A (p.Arg147Gln) c.23G>A (p.Arg8Gln) c.539G>A (p.Arg180Gln) c.224G>A (p.Arg75Gln) c.125G>A (p.Arg42Gln) c.746G>A (p.Arg249Gln) c.431G>A (p.Arg144Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081511G>A | CA7122834 | NRL | c.439C>T (p.Arg147Trp) c.22C>T (p.Arg8Trp) c.538C>T (p.Arg180Trp) c.223C>T (p.Arg75Trp) c.124C>T (p.Arg42Trp) c.745C>T (p.Arg249Trp) c.430C>T (p.Arg144Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081511G>C | CA389278659 | NRL | c.439C>G (p.Arg147Gly) c.22C>G (p.Arg8Gly) c.538C>G (p.Arg180Gly) c.223C>G (p.Arg75Gly) c.124C>G (p.Arg42Gly) c.745C>G (p.Arg249Gly) c.430C>G (p.Arg144Gly) | |
| 14 | g.24081511G= | CA2123777917 | NRL | c.439C= (p.Arg147=) c.22C= (p.Arg8=) c.538C= (p.Arg180=) c.223C= (p.Arg75=) c.124C= (p.Arg42=) c.745C= (p.Arg249=) c.430C= (p.Arg144=) | |
| 14 | g.24081511G>T | CA485776051 | NRL | c.439C>A (p.Arg147=) c.22C>A (p.Arg8=) c.538C>A (p.Arg180=) c.223C>A (p.Arg75=) c.124C>A (p.Arg42=) c.745C>A (p.Arg249=) c.430C>A (p.Arg144=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081512G>A | CA485776052 | NRL | c.438C>T (p.Asn146=) c.21C>T (p.Asn7=) c.537C>T (p.Asn179=) c.222C>T (p.Asn74=) c.123C>T (p.Asn41=) c.744C>T (p.Asn248=) c.429C>T (p.Asn143=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081512G>C | CA389278660 | NRL | c.438C>G (p.Asn146Lys) c.21C>G (p.Asn7Lys) c.537C>G (p.Asn179Lys) c.222C>G (p.Asn74Lys) c.123C>G (p.Asn41Lys) c.744C>G (p.Asn248Lys) c.429C>G (p.Asn143Lys) | gnomAD v4 |
| 14 | g.24081512G= | CA2123777924 | NRL | c.438C= (p.Asn146=) c.21C= (p.Asn7=) c.537C= (p.Asn179=) c.222C= (p.Asn74=) c.123C= (p.Asn41=) c.744C= (p.Asn248=) c.429C= (p.Asn143=) | |
| 14 | g.24081512G>T | CA389278661 | NRL | c.438C>A (p.Asn146Lys) c.21C>A (p.Asn7Lys) c.537C>A (p.Asn179Lys) c.222C>A (p.Asn74Lys) c.123C>A (p.Asn41Lys) c.744C>A (p.Asn248Lys) c.429C>A (p.Asn143Lys) | gnomAD v4 |
| 14 | g.24081513T>A | CA389278664 | NRL | c.437A>T (p.Asn146Ile) c.20A>T (p.Asn7Ile) c.536A>T (p.Asn179Ile) c.221A>T (p.Asn74Ile) c.122A>T (p.Asn41Ile) c.743A>T (p.Asn248Ile) c.428A>T (p.Asn143Ile) | |
| 14 | g.24081513T>C | CA389278667 | NRL | c.437A>G (p.Asn146Ser) c.20A>G (p.Asn7Ser) c.536A>G (p.Asn179Ser) c.221A>G (p.Asn74Ser) c.122A>G (p.Asn41Ser) c.743A>G (p.Asn248Ser) c.428A>G (p.Asn143Ser) | |
| 14 | g.24081513T>G | CA389278669 | NRL | c.437A>C (p.Asn146Thr) c.20A>C (p.Asn7Thr) c.536A>C (p.Asn179Thr) c.221A>C (p.Asn74Thr) c.122A>C (p.Asn41Thr) c.743A>C (p.Asn248Thr) c.428A>C (p.Asn143Thr) | |
| 14 | g.24081514T>A | CA389278692 | NRL | c.436A>T (p.Asn146Tyr) c.19A>T (p.Asn7Tyr) c.535A>T (p.Asn179Tyr) c.220A>T (p.Asn74Tyr) c.121A>T (p.Asn41Tyr) c.742A>T (p.Asn248Tyr) c.427A>T (p.Asn143Tyr) | |
| 14 | g.24081514T>C | CA389278687 | NRL | c.436A>G (p.Asn146Asp) c.19A>G (p.Asn7Asp) c.535A>G (p.Asn179Asp) c.220A>G (p.Asn74Asp) c.121A>G (p.Asn41Asp) c.742A>G (p.Asn248Asp) c.427A>G (p.Asn143Asp) | |
| 14 | g.24081514T>G | CA389278689 | NRL | c.436A>C (p.Asn146His) c.19A>C (p.Asn7His) c.535A>C (p.Asn179His) c.220A>C (p.Asn74His) c.121A>C (p.Asn41His) c.742A>C (p.Asn248His) c.427A>C (p.Asn143His) | |
| 14 | g.24081515T>A | CA485776053 | NRL | c.435A>T (p.Leu145=) c.18A>T (p.Leu6=) c.534A>T (p.Leu178=) c.219A>T (p.Leu73=) c.120A>T (p.Leu40=) c.741A>T (p.Leu247=) c.426A>T (p.Leu142=) | |
| 14 | g.24081515T>C | CA485776054 | NRL | c.435A>G (p.Leu145=) c.18A>G (p.Leu6=) c.534A>G (p.Leu178=) c.219A>G (p.Leu73=) c.120A>G (p.Leu40=) c.741A>G (p.Leu247=) c.426A>G (p.Leu142=) | gnomAD v4 |
| 14 | g.24081515T>G | CA485776055 | NRL | c.435A>C (p.Leu145=) c.18A>C (p.Leu6=) c.534A>C (p.Leu178=) c.219A>C (p.Leu73=) c.120A>C (p.Leu40=) c.741A>C (p.Leu247=) c.426A>C (p.Leu142=) | |
| 14 | g.24081516A>C | CA389278695 | NRL | c.434T>G (p.Leu145Arg) c.17T>G (p.Leu6Arg) c.533T>G (p.Leu178Arg) c.218T>G (p.Leu73Arg) c.119T>G (p.Leu40Arg) c.740T>G (p.Leu247Arg) c.425T>G (p.Leu142Arg) | gnomAD v4 |
| 14 | g.24081516A>G | CA389278699 | NRL | c.434T>C (p.Leu145Pro) c.17T>C (p.Leu6Pro) c.533T>C (p.Leu178Pro) c.218T>C (p.Leu73Pro) c.119T>C (p.Leu40Pro) c.740T>C (p.Leu247Pro) c.425T>C (p.Leu142Pro) | gnomAD v4 |
| 14 | g.24081516A>T | CA389278702 | NRL | c.434T>A (p.Leu145Gln) c.17T>A (p.Leu6Gln) c.533T>A (p.Leu178Gln) c.218T>A (p.Leu73Gln) c.119T>A (p.Leu40Gln) c.740T>A (p.Leu247Gln) c.425T>A (p.Leu142Gln) | |
| 14 | g.24081517G>A | CA485776056 | NRL | c.433C>T (p.Leu145=) c.16C>T (p.Leu6=) c.532C>T (p.Leu178=) c.217C>T (p.Leu73=) c.118C>T (p.Leu40=) c.739C>T (p.Leu247=) c.424C>T (p.Leu142=) | gnomAD v4 |
| 14 | g.24081517G>C | CA389278705 | NRL | c.433C>G (p.Leu145Val) c.16C>G (p.Leu6Val) c.532C>G (p.Leu178Val) c.217C>G (p.Leu73Val) c.118C>G (p.Leu40Val) c.739C>G (p.Leu247Val) c.424C>G (p.Leu142Val) | gnomAD v4 |
| 14 | g.24081517G>T | CA389278708 | NRL | c.433C>A (p.Leu145Ile) c.16C>A (p.Leu6Ile) c.532C>A (p.Leu178Ile) c.217C>A (p.Leu73Ile) c.118C>A (p.Leu40Ile) c.739C>A (p.Leu247Ile) c.424C>A (p.Leu142Ile) | gnomAD v4 |
| 14 | g.24081518C>A | CA389278713 | NRL | c.432G>T (p.Glu144Asp) c.15G>T (p.Glu5Asp) c.531G>T (p.Glu177Asp) c.216G>T (p.Glu72Asp) c.117G>T (p.Glu39Asp) c.738G>T (p.Glu246Asp) c.423G>T (p.Glu141Asp) | gnomAD v4 |
| 14 | g.24081518C= | CA2123777927 | NRL | c.432G= (p.Glu144=) c.15G= (p.Glu5=) c.531G= (p.Glu177=) c.216G= (p.Glu72=) c.117G= (p.Glu39=) c.738G= (p.Glu246=) c.423G= (p.Glu141=) | |
| 14 | g.24081518C>G | CA389278717 | NRL | c.432G>C (p.Glu144Asp) c.15G>C (p.Glu5Asp) c.531G>C (p.Glu177Asp) c.216G>C (p.Glu72Asp) c.117G>C (p.Glu39Asp) c.738G>C (p.Glu246Asp) c.423G>C (p.Glu141Asp) | dbSNP |
| 14 | g.24081518C>T | CA257868141 | NRL | c.432G>A (p.Glu144=) c.15G>A (p.Glu5=) c.531G>A (p.Glu177=) c.216G>A (p.Glu72=) c.117G>A (p.Glu39=) c.738G>A (p.Glu246=) c.423G>A (p.Glu141=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081519T>A | CA389278719 | NRL | c.431A>T (p.Glu144Val) c.14A>T (p.Glu5Val) c.530A>T (p.Glu177Val) c.215A>T (p.Glu72Val) c.116A>T (p.Glu39Val) c.737A>T (p.Glu246Val) c.422A>T (p.Glu141Val) | gnomAD v4 |
| 14 | g.24081519T>C | CA389278722 | NRL | c.431A>G (p.Glu144Gly) c.14A>G (p.Glu5Gly) c.530A>G (p.Glu177Gly) c.215A>G (p.Glu72Gly) c.116A>G (p.Glu39Gly) c.737A>G (p.Glu246Gly) c.422A>G (p.Glu141Gly) | |
| 14 | g.24081519T>G | CA389278723 | NRL | c.431A>C (p.Glu144Ala) c.14A>C (p.Glu5Ala) c.530A>C (p.Glu177Ala) c.215A>C (p.Glu72Ala) c.116A>C (p.Glu39Ala) c.737A>C (p.Glu246Ala) c.422A>C (p.Glu141Ala) | gnomAD v4 |
| 14 | g.24081520C>A | CA389278727 | NRL | c.430G>T (p.Glu144Ter) c.13G>T (p.Glu5Ter) c.529G>T (p.Glu177Ter) c.214G>T (p.Glu72Ter) c.115G>T (p.Glu39Ter) c.736G>T (p.Glu246Ter) c.421G>T (p.Glu141Ter) | gnomAD v4 |
| 14 | g.24081520C>G | CA389278729 | NRL | c.430G>C (p.Glu144Gln) c.13G>C (p.Glu5Gln) c.529G>C (p.Glu177Gln) c.214G>C (p.Glu72Gln) c.115G>C (p.Glu39Gln) c.736G>C (p.Glu246Gln) c.421G>C (p.Glu141Gln) | |
| 14 | g.24081520C>T | CA389278731 | NRL | c.430G>A (p.Glu144Lys) c.13G>A (p.Glu5Lys) c.529G>A (p.Glu177Lys) c.214G>A (p.Glu72Lys) c.115G>A (p.Glu39Lys) c.736G>A (p.Glu246Lys) c.421G>A (p.Glu141Lys) | gnomAD v4 |
| 14 | g.24081522del | CA2624298875 | NRL | c.430del (p.Glu144SerfsTer2) c.13del (p.Glu5SerfsTer2) c.529del (p.Glu177SerfsTer2) c.214del (p.Glu72SerfsTer2) c.115del (p.Glu39SerfsTer2) c.736del (p.Glu246SerfsTer2) c.421del (p.Glu141SerfsTer2) | gnomAD v4 |
| 14 | g.24081521C>A | CA485776058 | NRL | c.429G>T (p.Arg143=) c.12G>T (p.Arg4=) c.528G>T (p.Arg176=) c.213G>T (p.Arg71=) c.114G>T (p.Arg38=) c.735G>T (p.Arg245=) c.420G>T (p.Arg140=) | gnomAD v4 |
| 14 | g.24081521C>G | CA485776059 | NRL | c.429G>C (p.Arg143=) c.12G>C (p.Arg4=) c.528G>C (p.Arg176=) c.213G>C (p.Arg71=) c.114G>C (p.Arg38=) c.735G>C (p.Arg245=) c.420G>C (p.Arg140=) | |
| 14 | g.24081521C>T | CA485776060 | NRL | c.429G>A (p.Arg143=) c.12G>A (p.Arg4=) c.528G>A (p.Arg176=) c.213G>A (p.Arg71=) c.114G>A (p.Arg38=) c.735G>A (p.Arg245=) c.420G>A (p.Arg140=) | gnomAD v4 |
| 14 | g.24081522C>A | CA389278735 | NRL | c.428G>T (p.Arg143Leu) c.11G>T (p.Arg4Leu) c.527G>T (p.Arg176Leu) c.212G>T (p.Arg71Leu) c.113G>T (p.Arg38Leu) c.734G>T (p.Arg245Leu) c.419G>T (p.Arg140Leu) | gnomAD v4 |
| 14 | g.24081522C= | CA2123777940 | NRL | c.428G= (p.Arg143=) c.11G= (p.Arg4=) c.527G= (p.Arg176=) c.212G= (p.Arg71=) c.113G= (p.Arg38=) c.734G= (p.Arg245=) c.419G= (p.Arg140=) | |
| 14 | g.24081522C>G | CA389278781 | NRL | c.428G>C (p.Arg143Pro) c.11G>C (p.Arg4Pro) c.527G>C (p.Arg176Pro) c.212G>C (p.Arg71Pro) c.113G>C (p.Arg38Pro) c.734G>C (p.Arg245Pro) c.419G>C (p.Arg140Pro) | gnomAD v4 |
| 14 | g.24081522C>T | CA389278764 | NRL | c.428G>A (p.Arg143Gln) c.11G>A (p.Arg4Gln) c.527G>A (p.Arg176Gln) c.212G>A (p.Arg71Gln) c.113G>A (p.Arg38Gln) c.734G>A (p.Arg245Gln) c.419G>A (p.Arg140Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081523G>A | CA389278787 | NRL | c.427C>T (p.Arg143Trp) c.10C>T (p.Arg4Trp) c.526C>T (p.Arg176Trp) c.211C>T (p.Arg71Trp) c.112C>T (p.Arg38Trp) c.733C>T (p.Arg245Trp) c.418C>T (p.Arg140Trp) | gnomAD v4 |
| 14 | g.24081523G>C | CA389278793 | NRL | c.427C>G (p.Arg143Gly) c.10C>G (p.Arg4Gly) c.526C>G (p.Arg176Gly) c.211C>G (p.Arg71Gly) c.112C>G (p.Arg38Gly) c.733C>G (p.Arg245Gly) c.418C>G (p.Arg140Gly) | |
| 14 | g.24081523G>T | CA485776061 | NRL | c.427C>A (p.Arg143=) c.10C>A (p.Arg4=) c.526C>A (p.Arg176=) c.211C>A (p.Arg71=) c.112C>A (p.Arg38=) c.733C>A (p.Arg245=) c.418C>A (p.Arg140=) | gnomAD v4 |
| 14 | g.24081524C>A | CA485776062 | NRL | c.426G>T (p.Val142=) c.9G>T (p.Val3=) c.525G>T (p.Val175=) c.210G>T (p.Val70=) c.111G>T (p.Val37=) c.732G>T (p.Val244=) c.417G>T (p.Val139=) | gnomAD v4 |
| 14 | g.24081524C>G | CA485776063 | NRL | c.426G>C (p.Val142=) c.9G>C (p.Val3=) c.525G>C (p.Val175=) c.210G>C (p.Val70=) c.111G>C (p.Val37=) c.732G>C (p.Val244=) c.417G>C (p.Val139=) | |
| 14 | g.24081524C>T | CA485776064 | NRL | c.426G>A (p.Val142=) c.9G>A (p.Val3=) c.525G>A (p.Val175=) c.210G>A (p.Val70=) c.111G>A (p.Val37=) c.732G>A (p.Val244=) c.417G>A (p.Val139=) | gnomAD v4 |
| 14 | g.24081525A= | CA2123777948 | NRL | c.425T= (p.Val142=) c.8T= (p.Val3=) c.524T= (p.Val175=) c.209T= (p.Val70=) c.110T= (p.Val37=) c.731T= (p.Val244=) c.416T= (p.Val139=) | |
| 14 | g.24081525A>C | CA389278797 | NRL | c.425T>G (p.Val142Gly) c.8T>G (p.Val3Gly) c.524T>G (p.Val175Gly) c.209T>G (p.Val70Gly) c.110T>G (p.Val37Gly) c.731T>G (p.Val244Gly) c.416T>G (p.Val139Gly) | |
| 14 | g.24081525A>G | CA7122835 | NRL | c.425T>C (p.Val142Ala) c.8T>C (p.Val3Ala) c.524T>C (p.Val175Ala) c.209T>C (p.Val70Ala) c.110T>C (p.Val37Ala) c.731T>C (p.Val244Ala) c.416T>C (p.Val139Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081525A>T | CA389278798 | NRL | c.425T>A (p.Val142Glu) c.8T>A (p.Val3Glu) c.524T>A (p.Val175Glu) c.209T>A (p.Val70Glu) c.110T>A (p.Val37Glu) c.731T>A (p.Val244Glu) c.416T>A (p.Val139Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081526C>A | CA389278799 | NRL | c.424G>T (p.Val142Leu) c.7G>T (p.Val3Leu) c.523G>T (p.Val175Leu) c.208G>T (p.Val70Leu) c.109G>T (p.Val37Leu) c.730G>T (p.Val244Leu) c.415G>T (p.Val139Leu) | gnomAD v4 |
| 14 | g.24081526C>G | CA389278802 | NRL | c.424G>C (p.Val142Leu) c.7G>C (p.Val3Leu) c.523G>C (p.Val175Leu) c.208G>C (p.Val70Leu) c.109G>C (p.Val37Leu) c.730G>C (p.Val244Leu) c.415G>C (p.Val139Leu) | |
| 14 | g.24081526C>T | CA389278806 | NRL | c.424G>A (p.Val142Met) c.7G>A (p.Val3Met) c.523G>A (p.Val175Met) c.208G>A (p.Val70Met) c.109G>A (p.Val37Met) c.730G>A (p.Val244Met) c.415G>A (p.Val139Met) | gnomAD v4 |
| 14 | g.24081527A= | CA2123777954 | NRL | c.423T= (p.Ser141=) c.6T= (p.Ser2=) c.522T= (p.Ser174=) c.207T= (p.Ser69=) c.108T= (p.Ser36=) c.729T= (p.Ser243=) c.414T= (p.Ser138=) | |
| 14 | g.24081527A>C | CA485776065 | NRL | c.423T>G (p.Ser141=) c.6T>G (p.Ser2=) c.522T>G (p.Ser174=) c.207T>G (p.Ser69=) c.108T>G (p.Ser36=) c.729T>G (p.Ser243=) c.414T>G (p.Ser138=) | |
| 14 | g.24081527A>G | CA7122836 | NRL | c.423T>C (p.Ser141=) c.6T>C (p.Ser2=) c.522T>C (p.Ser174=) c.207T>C (p.Ser69=) c.108T>C (p.Ser36=) c.729T>C (p.Ser243=) c.414T>C (p.Ser138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081527A>T | CA485776066 | NRL | c.423T>A (p.Ser141=) c.6T>A (p.Ser2=) c.522T>A (p.Ser174=) c.207T>A (p.Ser69=) c.108T>A (p.Ser36=) c.729T>A (p.Ser243=) c.414T>A (p.Ser138=) | |
| 14 | g.24081528G>A | CA389278829 | NRL | c.422C>T (p.Ser141Phe) c.5C>T (p.Ser2Phe) c.521C>T (p.Ser174Phe) c.206C>T (p.Ser69Phe) c.107C>T (p.Ser36Phe) c.728C>T (p.Ser243Phe) c.413C>T (p.Ser138Phe) | gnomAD v4 |
| 14 | g.24081528G>C | CA389278838 | NRL | c.422C>G (p.Ser141Cys) c.5C>G (p.Ser2Cys) c.521C>G (p.Ser174Cys) c.206C>G (p.Ser69Cys) c.107C>G (p.Ser36Cys) c.728C>G (p.Ser243Cys) c.413C>G (p.Ser138Cys) | |
| 14 | g.24081528G>T | CA389278841 | NRL | c.422C>A (p.Ser141Tyr) c.5C>A (p.Ser2Tyr) c.521C>A (p.Ser174Tyr) c.206C>A (p.Ser69Tyr) c.107C>A (p.Ser36Tyr) c.728C>A (p.Ser243Tyr) c.413C>A (p.Ser138Tyr) | gnomAD v4 |
| 14 | g.24081529A= | CA2123777957 | NRL | c.421T= (p.Ser141=) c.4T= (p.Ser2=) c.520T= (p.Ser174=) c.205T= (p.Ser69=) c.106T= (p.Ser36=) c.727T= (p.Ser243=) c.412T= (p.Ser138=) | |
| 14 | g.24081529A>C | CA389278864 | NRL | c.421T>G (p.Ser141Ala) c.4T>G (p.Ser2Ala) c.520T>G (p.Ser174Ala) c.205T>G (p.Ser69Ala) c.106T>G (p.Ser36Ala) c.727T>G (p.Ser243Ala) c.412T>G (p.Ser138Ala) | dbSNP gnomAD v4 |
| 14 | g.24081529A>G | CA389278861 | NRL | c.421T>C (p.Ser141Pro) c.4T>C (p.Ser2Pro) c.520T>C (p.Ser174Pro) c.205T>C (p.Ser69Pro) c.106T>C (p.Ser36Pro) c.727T>C (p.Ser243Pro) c.412T>C (p.Ser138Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081529A>T | CA389278846 | NRL | c.421T>A (p.Ser141Thr) c.4T>A (p.Ser2Thr) c.520T>A (p.Ser174Thr) c.205T>A (p.Ser69Thr) c.106T>A (p.Ser36Thr) c.727T>A (p.Ser243Thr) c.412T>A (p.Ser138Thr) | gnomAD v4 |
| 14 | g.24081530C>A | CA389278865 | NRL | c.420G>T (p.Met140Ile) c.3G>T (p.Met1Ile) c.519G>T (p.Met173Ile) c.204G>T (p.Met68Ile) c.105G>T (p.Met35Ile) c.726G>T (p.Met242Ile) c.411G>T (p.Met137Ile) | gnomAD v4 |
| 14 | g.24081530C>G | CA389278866 | NRL | c.420G>C (p.Met140Ile) c.3G>C (p.Met1Ile) c.519G>C (p.Met173Ile) c.204G>C (p.Met68Ile) c.105G>C (p.Met35Ile) c.726G>C (p.Met242Ile) c.411G>C (p.Met137Ile) | |
| 14 | g.24081530C>T | CA389278867 | NRL | c.420G>A (p.Met140Ile) c.3G>A (p.Met1Ile) c.519G>A (p.Met173Ile) c.204G>A (p.Met68Ile) c.105G>A (p.Met35Ile) c.726G>A (p.Met242Ile) c.411G>A (p.Met137Ile) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081531A= | CA2123777959 | NRL | c.419T= (p.Met140=) c.2T= (p.Met1=) c.518T= (p.Met173=) c.203T= (p.Met68=) c.104T= (p.Met35=) c.725T= (p.Met242=) c.410T= (p.Met137=) | |
| 14 | g.24081531A>C | CA389278868 | NRL | c.419T>G (p.Met140Arg) c.2T>G (p.Met1Arg) c.518T>G (p.Met173Arg) c.203T>G (p.Met68Arg) c.104T>G (p.Met35Arg) c.725T>G (p.Met242Arg) c.410T>G (p.Met137Arg) | |
| 14 | g.24081531A>G | CA257868153 | NRL | c.419T>C (p.Met140Thr) c.2T>C (p.Met1Thr) c.518T>C (p.Met173Thr) c.203T>C (p.Met68Thr) c.104T>C (p.Met35Thr) c.725T>C (p.Met242Thr) c.410T>C (p.Met137Thr) | dbSNP |
| 14 | g.24081531A>T | CA389278871 | NRL | c.419T>A (p.Met140Lys) c.2T>A (p.Met1Lys) c.518T>A (p.Met173Lys) c.203T>A (p.Met68Lys) c.104T>A (p.Met35Lys) c.725T>A (p.Met242Lys) c.410T>A (p.Met137Lys) | |
| 14 | g.24081532T>A | CA389278874 | NRL | c.418A>T (p.Met140Leu) c.1A>T (p.Met1Leu) c.517A>T (p.Met173Leu) c.202A>T (p.Met68Leu) c.103A>T (p.Met35Leu) c.724A>T (p.Met242Leu) c.409A>T (p.Met137Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081532T>C | CA389278878 | NRL | c.418A>G (p.Met140Val) c.1A>G (p.Met1Val) c.517A>G (p.Met173Val) c.202A>G (p.Met68Val) c.103A>G (p.Met35Val) c.724A>G (p.Met242Val) c.409A>G (p.Met137Val) | gnomAD v4 |
| 14 | g.24081532T>G | CA389278881 | NRL | c.418A>C (p.Met140Leu) c.1A>C (p.Met1Leu) c.517A>C (p.Met173Leu) c.202A>C (p.Met68Leu) c.103A>C (p.Met35Leu) c.724A>C (p.Met242Leu) c.409A>C (p.Met137Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081532T= | CA2123777962 | NRL | c.418A= (p.Met140=) c.1A= (p.Met1=) c.517A= (p.Met173=) c.202A= (p.Met68=) c.103A= (p.Met35=) c.724A= (p.Met242=) c.409A= (p.Met137=) | |
| 14 | g.24081533C>A | CA485776067 | NRL | c.417G>T (p.Ser139=) c.-1G>T (n.-1G>T) c.516G>T (p.Ser172=) c.201G>T (p.Ser67=) c.102G>T (p.Ser34=) c.723G>T (p.Ser241=) c.408G>T (p.Ser136=) | gnomAD v4 |
| 14 | g.24081533C= | CA2123777965 | NRL | c.417G= (p.Ser139=) c.-1G= (n.-1G=) c.516G= (p.Ser172=) c.201G= (p.Ser67=) c.102G= (p.Ser34=) c.723G= (p.Ser241=) c.408G= (p.Ser136=) | |
| 14 | g.24081533C>G | CA485776068 | NRL | c.417G>C (p.Ser139=) c.-1G>C (n.-1G>C) c.516G>C (p.Ser172=) c.201G>C (p.Ser67=) c.102G>C (p.Ser34=) c.723G>C (p.Ser241=) c.408G>C (p.Ser136=) | dbSNP |
| 14 | g.24081533C>T | CA7122837 | NRL | c.417G>A (p.Ser139=) c.-1G>A (n.-1G>A) c.516G>A (p.Ser172=) c.201G>A (p.Ser67=) c.102G>A (p.Ser34=) c.723G>A (p.Ser241=) c.408G>A (p.Ser136=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081533dup | CA2575490425 | NRL | c.417dup (p.Met140AspfsTer?) c.-1dup (p.Met1AspfsTer?) c.516dup (p.Met173AspfsTer?) c.201dup (p.Met68AspfsTer?) c.102dup (p.Met35AspfsTer?) c.723dup (p.Met242AspfsTer?) c.408dup (p.Met137AspfsTer?) | |
| 14 | g.24081534G>A | CA389278886 | NRL | c.416C>T (p.Ser139Leu) c.-2C>T (n.-2C>T) c.515C>T (p.Ser172Leu) c.200C>T (p.Ser67Leu) c.101C>T (p.Ser34Leu) c.722C>T (p.Ser241Leu) c.407C>T (p.Ser136Leu) | gnomAD v4 |
| 14 | g.24081534G>C | CA389278888 | NRL | c.416C>G (p.Ser139Trp) c.-2C>G (n.-2C>G) c.515C>G (p.Ser172Trp) c.200C>G (p.Ser67Trp) c.101C>G (p.Ser34Trp) c.722C>G (p.Ser241Trp) c.407C>G (p.Ser136Trp) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081534G>T | CA389278889 | NRL | c.416C>A (p.Ser139Ter) c.-2C>A (n.-2C>A) c.515C>A (p.Ser172Ter) c.200C>A (p.Ser67Ter) c.101C>A (p.Ser34Ter) c.722C>A (p.Ser241Ter) c.407C>A (p.Ser136Ter) | gnomAD v4 |
| 14 | g.24081535A>C | CA389278891 | NRL | c.415T>G (p.Ser139Ala) c.-3T>G (n.-3T>G) c.514T>G (p.Ser172Ala) c.199T>G (p.Ser67Ala) c.100T>G (p.Ser34Ala) c.721T>G (p.Ser241Ala) c.406T>G (p.Ser136Ala) | |
| 14 | g.24081535A>G | CA389278893 | NRL | c.415T>C (p.Ser139Pro) c.-3T>C (n.-3T>C) c.514T>C (p.Ser172Pro) c.199T>C (p.Ser67Pro) c.100T>C (p.Ser34Pro) c.721T>C (p.Ser241Pro) c.406T>C (p.Ser136Pro) | |
| 14 | g.24081535A>T | CA389278890 | NRL | c.415T>A (p.Ser139Thr) c.-3T>A (n.-3T>A) c.514T>A (p.Ser172Thr) c.199T>A (p.Ser67Thr) c.100T>A (p.Ser34Thr) c.721T>A (p.Ser241Thr) c.406T>A (p.Ser136Thr) | |
| 14 | g.24081536G>A | CA485776069 | NRL | c.414C>T (p.Val138=) c.-4C>T (n.-4C>T) c.513C>T (p.Val171=) c.198C>T (p.Val66=) c.99C>T (p.Val33=) c.720C>T (p.Val240=) c.405C>T (p.Val135=) | |
| 14 | g.24081536G>C | CA485776070 | NRL | c.414C>G (p.Val138=) c.-4C>G (n.-4C>G) c.513C>G (p.Val171=) c.198C>G (p.Val66=) c.99C>G (p.Val33=) c.720C>G (p.Val240=) c.405C>G (p.Val135=) | |
| 14 | g.24081536G>T | CA485776071 | NRL | c.414C>A (p.Val138=) c.-4C>A (n.-4C>A) c.513C>A (p.Val171=) c.198C>A (p.Val66=) c.99C>A (p.Val33=) c.720C>A (p.Val240=) c.405C>A (p.Val135=) | gnomAD v4 |
| 14 | g.24081537A= | CA2123777968 | NRL | c.413T= (p.Val138=) c.-5T= (n.-5T=) c.512T= (p.Val171=) c.197T= (p.Val66=) c.98T= (p.Val33=) c.719T= (p.Val240=) c.404T= (p.Val135=) | |
| 14 | g.24081537A>C | CA389278901 | NRL | c.413T>G (p.Val138Gly) c.-5T>G (n.-5T>G) c.512T>G (p.Val171Gly) c.197T>G (p.Val66Gly) c.98T>G (p.Val33Gly) c.719T>G (p.Val240Gly) c.404T>G (p.Val135Gly) | |
| 14 | g.24081537A>G | CA389278896 | NRL | c.413T>C (p.Val138Ala) c.-5T>C (n.-5T>C) c.512T>C (p.Val171Ala) c.197T>C (p.Val66Ala) c.98T>C (p.Val33Ala) c.719T>C (p.Val240Ala) c.404T>C (p.Val135Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081537A>T | CA389278904 | NRL | c.413T>A (p.Val138Asp) c.-5T>A (n.-5T>A) c.512T>A (p.Val171Asp) c.197T>A (p.Val66Asp) c.98T>A (p.Val33Asp) c.719T>A (p.Val240Asp) c.404T>A (p.Val135Asp) | gnomAD v4 |
| 14 | g.24081538C>A | CA389278913 | NRL | c.412G>T (p.Val138Phe) c.-6G>T (n.-6G>T) c.511G>T (p.Val171Phe) c.196G>T (p.Val66Phe) c.97G>T (p.Val33Phe) c.718G>T (p.Val240Phe) c.403G>T (p.Val135Phe) | gnomAD v4 |
| 14 | g.24081538C= | CA2123777972 | NRL | c.412G= (p.Val138=) c.-6G= (n.-6G=) c.511G= (p.Val171=) c.196G= (p.Val66=) c.97G= (p.Val33=) c.718G= (p.Val240=) c.403G= (p.Val135=) | |
| 14 | g.24081538C>G | CA389278923 | NRL | c.412G>C (p.Val138Leu) c.-6G>C (n.-6G>C) c.511G>C (p.Val171Leu) c.196G>C (p.Val66Leu) c.97G>C (p.Val33Leu) c.718G>C (p.Val240Leu) c.403G>C (p.Val135Leu) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081538C>T | CA389278916 | NRL | c.412G>A (p.Val138Ile) c.-6G>A (n.-6G>A) c.511G>A (p.Val171Ile) c.196G>A (p.Val66Ile) c.97G>A (p.Val33Ile) c.718G>A (p.Val240Ile) c.403G>A (p.Val135Ile) | gnomAD v4 |
| 14 | g.24081539C>A | CA485776073 | NRL | c.411G>T (p.Leu137=) c.-7G>T (n.-7G>T) c.510G>T (p.Leu170=) c.195G>T (p.Leu65=) c.96G>T (p.Leu32=) c.717G>T (p.Leu239=) c.402G>T (p.Leu134=) | gnomAD v4 |
| 14 | g.24081539C>G | CA485776075 | NRL | c.411G>C (p.Leu137=) c.-7G>C (n.-7G>C) c.510G>C (p.Leu170=) c.195G>C (p.Leu65=) c.96G>C (p.Leu32=) c.717G>C (p.Leu239=) c.402G>C (p.Leu134=) | |
| 14 | g.24081539C>T | CA485776072 | NRL | c.411G>A (p.Leu137=) c.-7G>A (n.-7G>A) c.510G>A (p.Leu170=) c.195G>A (p.Leu65=) c.96G>A (p.Leu32=) c.717G>A (p.Leu239=) c.402G>A (p.Leu134=) | gnomAD v4 |
| 14 | g.24081540A>C | CA389278933 | NRL | c.410T>G (p.Leu137Arg) c.-8T>G (n.-8T>G) c.509T>G (p.Leu170Arg) c.194T>G (p.Leu65Arg) c.95T>G (p.Leu32Arg) c.716T>G (p.Leu239Arg) c.401T>G (p.Leu134Arg) | |
| 14 | g.24081540A>G | CA389278941 | NRL | c.410T>C (p.Leu137Pro) c.-8T>C (n.-8T>C) c.509T>C (p.Leu170Pro) c.194T>C (p.Leu65Pro) c.95T>C (p.Leu32Pro) c.716T>C (p.Leu239Pro) c.401T>C (p.Leu134Pro) | gnomAD v4 |
| 14 | g.24081540A>T | CA389278935 | NRL | c.410T>A (p.Leu137Gln) c.-8T>A (n.-8T>A) c.509T>A (p.Leu170Gln) c.194T>A (p.Leu65Gln) c.95T>A (p.Leu32Gln) c.716T>A (p.Leu239Gln) c.401T>A (p.Leu134Gln) | gnomAD v4 |
| 14 | g.24081541G>A | CA485776078 | NRL | c.409C>T (p.Leu137=) c.-9C>T (n.-9C>T) c.508C>T (p.Leu170=) c.193C>T (p.Leu65=) c.94C>T (p.Leu32=) c.715C>T (p.Leu239=) c.400C>T (p.Leu134=) | |
| 14 | g.24081541G>C | CA389278944 | NRL | c.409C>G (p.Leu137Val) c.-9C>G (n.-9C>G) c.508C>G (p.Leu170Val) c.193C>G (p.Leu65Val) c.94C>G (p.Leu32Val) c.715C>G (p.Leu239Val) c.400C>G (p.Leu134Val) | |
| 14 | g.24081541G>T | CA389278952 | NRL | c.409C>A (p.Leu137Met) c.-9C>A (n.-9C>A) c.508C>A (p.Leu170Met) c.193C>A (p.Leu65Met) c.94C>A (p.Leu32Met) c.715C>A (p.Leu239Met) c.400C>A (p.Leu134Met) | |
| 14 | g.24081542C>A | CA7122838 | NRL | c.408G>T (p.Ala136=) c.-10G>T (n.-10G>T) c.507G>T (p.Ala169=) c.192G>T (p.Ala64=) c.93G>T (p.Ala31=) c.714G>T (p.Ala238=) c.399G>T (p.Ala133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081542C= | CA2123777977 | NRL | c.408G= (p.Ala136=) c.-10G= (n.-10G=) c.507G= (p.Ala169=) c.192G= (p.Ala64=) c.93G= (p.Ala31=) c.714G= (p.Ala238=) c.399G= (p.Ala133=) | |
| 14 | g.24081542C>G | CA485776079 | NRL | c.408G>C (p.Ala136=) c.-10G>C (n.-10G>C) c.507G>C (p.Ala169=) c.192G>C (p.Ala64=) c.93G>C (p.Ala31=) c.714G>C (p.Ala238=) c.399G>C (p.Ala133=) | |
| 14 | g.24081542C>T | CA485776081 | NRL | c.408G>A (p.Ala136=) c.-10G>A (n.-10G>A) c.507G>A (p.Ala169=) c.192G>A (p.Ala64=) c.93G>A (p.Ala31=) c.714G>A (p.Ala238=) c.399G>A (p.Ala133=) | gnomAD v4 |
| 14 | g.24081543G>A | CA7122839 | NRL | c.407C>T (p.Ala136Val) c.-11C>T (n.-11C>T) c.506C>T (p.Ala169Val) c.191C>T (p.Ala64Val) c.92C>T (p.Ala31Val) c.713C>T (p.Ala238Val) c.398C>T (p.Ala133Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081543G>C | CA389278961 | NRL | c.407C>G (p.Ala136Gly) c.-11C>G (n.-11C>G) c.506C>G (p.Ala169Gly) c.191C>G (p.Ala64Gly) c.92C>G (p.Ala31Gly) c.713C>G (p.Ala238Gly) c.398C>G (p.Ala133Gly) | |
| 14 | g.24081543G= | CA2123777986 | NRL | c.407C= (p.Ala136=) c.-11C= (n.-11C=) c.506C= (p.Ala169=) c.191C= (p.Ala64=) c.92C= (p.Ala31=) c.713C= (p.Ala238=) c.398C= (p.Ala133=) | |
| 14 | g.24081543G>T | CA389278969 | NRL | c.407C>A (p.Ala136Glu) c.-11C>A (n.-11C>A) c.506C>A (p.Ala169Glu) c.191C>A (p.Ala64Glu) c.92C>A (p.Ala31Glu) c.713C>A (p.Ala238Glu) c.398C>A (p.Ala133Glu) | gnomAD v4 |
| 14 | g.24081544C>A | CA389278973 | NRL | c.406G>T (p.Ala136Ser) c.-12G>T (n.-12G>T) c.505G>T (p.Ala169Ser) c.190G>T (p.Ala64Ser) c.91G>T (p.Ala31Ser) c.712G>T (p.Ala238Ser) c.397G>T (p.Ala133Ser) | |
| 14 | g.24081544C= | CA2123777994 | NRL | c.406G= (p.Ala136=) c.-12G= (n.-12G=) c.505G= (p.Ala169=) c.190G= (p.Ala64=) c.91G= (p.Ala31=) c.712G= (p.Ala238=) c.397G= (p.Ala133=) | |
| 14 | g.24081544C>G | CA389278974 | NRL | c.406G>C (p.Ala136Pro) c.-12G>C (n.-12G>C) c.505G>C (p.Ala169Pro) c.190G>C (p.Ala64Pro) c.91G>C (p.Ala31Pro) c.712G>C (p.Ala238Pro) c.397G>C (p.Ala133Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081544C>T | CA389278975 | NRL | c.406G>A (p.Ala136Thr) c.-12G>A (n.-12G>A) c.505G>A (p.Ala169Thr) c.190G>A (p.Ala64Thr) c.91G>A (p.Ala31Thr) c.712G>A (p.Ala238Thr) c.397G>A (p.Ala133Thr) | |
| 14 | g.24081545C>A | CA485776084 | NRL | c.405G>T (p.Ala135=) c.-13G>T (n.-13G>T) c.504G>T (p.Ala168=) c.189G>T (p.Ala63=) c.90G>T (p.Ala30=) c.711G>T (p.Ala237=) c.396G>T (p.Ala132=) | gnomAD v4 |
| 14 | g.24081545C>G | CA485776085 | NRL | c.405G>C (p.Ala135=) c.-13G>C (n.-13G>C) c.504G>C (p.Ala168=) c.189G>C (p.Ala63=) c.90G>C (p.Ala30=) c.711G>C (p.Ala237=) c.396G>C (p.Ala132=) | |
| 14 | g.24081545C>T | CA485776086 | NRL | c.405G>A (p.Ala135=) c.-13G>A (n.-13G>A) c.504G>A (p.Ala168=) c.189G>A (p.Ala63=) c.90G>A (p.Ala30=) c.711G>A (p.Ala237=) c.396G>A (p.Ala132=) | gnomAD v4 |
| 14 | g.24081546G>A | CA7122840 | NRL | c.404C>T (p.Ala135Val) c.-14C>T (n.-14C>T) c.503C>T (p.Ala168Val) c.188C>T (p.Ala63Val) c.89C>T (p.Ala30Val) c.710C>T (p.Ala237Val) c.395C>T (p.Ala132Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081546G>C | CA389278977 | NRL | c.404C>G (p.Ala135Gly) c.-14C>G (n.-14C>G) c.503C>G (p.Ala168Gly) c.188C>G (p.Ala63Gly) c.89C>G (p.Ala30Gly) c.710C>G (p.Ala237Gly) c.395C>G (p.Ala132Gly) | |
| 14 | g.24081546G= | CA2123777998 | NRL | c.404C= (p.Ala135=) c.-14C= (n.-14C=) c.503C= (p.Ala168=) c.188C= (p.Ala63=) c.89C= (p.Ala30=) c.710C= (p.Ala237=) c.395C= (p.Ala132=) | |
| 14 | g.24081546G>T | CA389278978 | NRL | c.404C>A (p.Ala135Glu) c.-14C>A (n.-14C>A) c.503C>A (p.Ala168Glu) c.188C>A (p.Ala63Glu) c.89C>A (p.Ala30Glu) c.710C>A (p.Ala237Glu) c.395C>A (p.Ala132Glu) | gnomAD v4 |
| 14 | g.24081547C>A | CA389278992 | NRL | c.403G>T (p.Ala135Ser) c.-15G>T (n.-15G>T) c.502G>T (p.Ala168Ser) c.187G>T (p.Ala63Ser) c.88G>T (p.Ala30Ser) c.709G>T (p.Ala237Ser) c.394G>T (p.Ala132Ser) | gnomAD v4 |
| 14 | g.24081547C>G | CA389278983 | NRL | c.403G>C (p.Ala135Pro) c.-15G>C (n.-15G>C) c.502G>C (p.Ala168Pro) c.187G>C (p.Ala63Pro) c.88G>C (p.Ala30Pro) c.709G>C (p.Ala237Pro) c.394G>C (p.Ala132Pro) | |
| 14 | g.24081547C>T | CA389278990 | NRL | c.403G>A (p.Ala135Thr) c.-15G>A (n.-15G>A) c.502G>A (p.Ala168Thr) c.187G>A (p.Ala63Thr) c.88G>A (p.Ala30Thr) c.709G>A (p.Ala237Thr) c.394G>A (p.Ala132Thr) | |
| 14 | g.24081548G>A | CA7122841 | NRL | c.402C>T (p.Asp134=) c.-16C>T (n.-16C>T) c.501C>T (p.Asp167=) c.186C>T (p.Asp62=) c.87C>T (p.Asp29=) c.708C>T (p.Asp236=) c.393C>T (p.Asp131=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081548G>C | CA389278994 | NRL | c.402C>G (p.Asp134Glu) c.-16C>G (n.-16C>G) c.501C>G (p.Asp167Glu) c.186C>G (p.Asp62Glu) c.87C>G (p.Asp29Glu) c.708C>G (p.Asp236Glu) c.393C>G (p.Asp131Glu) | |
| 14 | g.24081548G= | CA2123778003 | NRL | c.402C= (p.Asp134=) c.-16C= (n.-16C=) c.501C= (p.Asp167=) c.186C= (p.Asp62=) c.87C= (p.Asp29=) c.708C= (p.Asp236=) c.393C= (p.Asp131=) | |
| 14 | g.24081548G>T | CA389278997 | NRL | c.402C>A (p.Asp134Glu) c.-16C>A (n.-16C>A) c.501C>A (p.Asp167Glu) c.186C>A (p.Asp62Glu) c.87C>A (p.Asp29Glu) c.708C>A (p.Asp236Glu) c.393C>A (p.Asp131Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081549T>A | CA389279002 | NRL | c.401A>T (p.Asp134Val) c.-17A>T (n.-17A>T) c.500A>T (p.Asp167Val) c.185A>T (p.Asp62Val) c.86A>T (p.Asp29Val) c.707A>T (p.Asp236Val) c.392A>T (p.Asp131Val) | |
| 14 | g.24081549T>C | CA389279006 | NRL | c.401A>G (p.Asp134Gly) c.-17A>G (n.-17A>G) c.500A>G (p.Asp167Gly) c.185A>G (p.Asp62Gly) c.86A>G (p.Asp29Gly) c.707A>G (p.Asp236Gly) c.392A>G (p.Asp131Gly) | |
| 14 | g.24081549T>G | CA389279007 | NRL | c.401A>C (p.Asp134Ala) c.-17A>C (n.-17A>C) c.500A>C (p.Asp167Ala) c.185A>C (p.Asp62Ala) c.86A>C (p.Asp29Ala) c.707A>C (p.Asp236Ala) c.392A>C (p.Asp131Ala) | |
| 14 | g.24081550C>A | CA389279013 | NRL | c.400G>T (p.Asp134Tyr) c.-18G>T (n.-18G>T) c.499G>T (p.Asp167Tyr) c.184G>T (p.Asp62Tyr) c.85G>T (p.Asp29Tyr) c.706G>T (p.Asp236Tyr) c.391G>T (p.Asp131Tyr) | gnomAD v4 |
| 14 | g.24081550C= | CA2123778005 | NRL | c.400G= (p.Asp134=) c.-18G= (n.-18G=) c.499G= (p.Asp167=) c.184G= (p.Asp62=) c.85G= (p.Asp29=) c.706G= (p.Asp236=) c.391G= (p.Asp131=) | |
| 14 | g.24081550C>G | CA389279017 | NRL | c.400G>C (p.Asp134His) c.-18G>C (n.-18G>C) c.499G>C (p.Asp167His) c.184G>C (p.Asp62His) c.85G>C (p.Asp29His) c.706G>C (p.Asp236His) c.391G>C (p.Asp131His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081550C>T | CA389279020 | NRL | c.400G>A (p.Asp134Asn) c.-18G>A (n.-18G>A) c.499G>A (p.Asp167Asn) c.184G>A (p.Asp62Asn) c.85G>A (p.Asp29Asn) c.706G>A (p.Asp236Asn) c.391G>A (p.Asp131Asn) | gnomAD v4 COSMIC |
| 14 | g.24081551G>A | CA7122842 | NRL | c.399C>T (p.Ser133=) c.-19C>T (n.-19C>T) c.498C>T (p.Ser166=) c.183C>T (p.Ser61=) c.84C>T (p.Ser28=) c.705C>T (p.Ser235=) c.390C>T (p.Ser130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081551G>C | CA485776091 | NRL | c.399C>G (p.Ser133=) c.-19C>G (n.-19C>G) c.498C>G (p.Ser166=) c.183C>G (p.Ser61=) c.84C>G (p.Ser28=) c.705C>G (p.Ser235=) c.390C>G (p.Ser130=) | |
| 14 | g.24081551G= | CA2123778008 | NRL | c.399C= (p.Ser133=) c.-19C= (n.-19C=) c.498C= (p.Ser166=) c.183C= (p.Ser61=) c.84C= (p.Ser28=) c.705C= (p.Ser235=) c.390C= (p.Ser130=) | |
| 14 | g.24081551G>T | CA485776093 | NRL | c.399C>A (p.Ser133=) c.-19C>A (n.-19C>A) c.498C>A (p.Ser166=) c.183C>A (p.Ser61=) c.84C>A (p.Ser28=) c.705C>A (p.Ser235=) c.390C>A (p.Ser130=) | gnomAD v4 |
| 14 | g.24081552G>A | CA389279032 | NRL | c.398C>T (p.Ser133Phe) c.-20C>T (n.-20C>T) c.497C>T (p.Ser166Phe) c.182C>T (p.Ser61Phe) c.83C>T (p.Ser28Phe) c.704C>T (p.Ser235Phe) c.389C>T (p.Ser130Phe) | gnomAD v4 |
| 14 | g.24081552G>C | CA389279030 | NRL | c.398C>G (p.Ser133Cys) c.-20C>G (n.-20C>G) c.497C>G (p.Ser166Cys) c.182C>G (p.Ser61Cys) c.83C>G (p.Ser28Cys) c.704C>G (p.Ser235Cys) c.389C>G (p.Ser130Cys) | |
| 14 | g.24081552G>T | CA389279029 | NRL | c.398C>A (p.Ser133Tyr) c.-20C>A (n.-20C>A) c.497C>A (p.Ser166Tyr) c.182C>A (p.Ser61Tyr) c.83C>A (p.Ser28Tyr) c.704C>A (p.Ser235Tyr) c.389C>A (p.Ser130Tyr) | gnomAD v4 |
| 14 | g.24081553A>C | CA389279034 | NRL | c.397T>G (p.Ser133Ala) c.-21T>G (n.-21T>G) c.496T>G (p.Ser166Ala) c.181T>G (p.Ser61Ala) c.82T>G (p.Ser28Ala) c.703T>G (p.Ser235Ala) c.388T>G (p.Ser130Ala) | |
| 14 | g.24081553A>G | CA389279035 | NRL | c.397T>C (p.Ser133Pro) c.-21T>C (n.-21T>C) c.496T>C (p.Ser166Pro) c.181T>C (p.Ser61Pro) c.82T>C (p.Ser28Pro) c.703T>C (p.Ser235Pro) c.388T>C (p.Ser130Pro) | |
| 14 | g.24081553A>T | CA389279038 | NRL | c.397T>A (p.Ser133Thr) c.-21T>A (n.-21T>A) c.496T>A (p.Ser166Thr) c.181T>A (p.Ser61Thr) c.82T>A (p.Ser28Thr) c.703T>A (p.Ser235Thr) c.388T>A (p.Ser130Thr) | |
| 14 | g.24081556del | CA2624299045 | NRL | c.397del (p.Ser133ProfsTer13) c.-21del (n.-21del) c.496del (p.Ser166ProfsTer13) c.181del (p.Ser61ProfsTer13) c.82del (p.Ser28ProfsTer13) c.703del (p.Ser235ProfsTer13) c.388del (p.Ser130ProfsTer13) | gnomAD v4 |
| 14 | g.24081554A>C | CA389279042 | NRL | c.396T>G (p.Phe132Leu) c.-22T>G (n.-22T>G) c.495T>G (p.Phe165Leu) c.180T>G (p.Phe60Leu) c.81T>G (p.Phe27Leu) c.702T>G (p.Phe234Leu) c.387T>G (p.Phe129Leu) | |
| 14 | g.24081554A>G | CA485776097 | NRL | c.396T>C (p.Phe132=) c.-22T>C (n.-22T>C) c.495T>C (p.Phe165=) c.180T>C (p.Phe60=) c.81T>C (p.Phe27=) c.702T>C (p.Phe234=) c.387T>C (p.Phe129=) | |
| 14 | g.24081554A>T | CA389279045 | NRL | c.396T>A (p.Phe132Leu) c.-22T>A (n.-22T>A) c.495T>A (p.Phe165Leu) c.180T>A (p.Phe60Leu) c.81T>A (p.Phe27Leu) c.702T>A (p.Phe234Leu) c.387T>A (p.Phe129Leu) | |
| 14 | g.24081555A>C | CA389279056 | NRL | c.395T>G (p.Phe132Cys) c.-23T>G (n.-23T>G) c.494T>G (p.Phe165Cys) c.179T>G (p.Phe60Cys) c.80T>G (p.Phe27Cys) c.701T>G (p.Phe234Cys) c.386T>G (p.Phe129Cys) | |
| 14 | g.24081555A>G | CA389279057 | NRL | c.395T>C (p.Phe132Ser) c.-23T>C (n.-23T>C) c.494T>C (p.Phe165Ser) c.179T>C (p.Phe60Ser) c.80T>C (p.Phe27Ser) c.701T>C (p.Phe234Ser) c.386T>C (p.Phe129Ser) | dbSNP |
| 14 | g.24081555A>T | CA389279059 | NRL | c.395T>A (p.Phe132Tyr) c.-23T>A (n.-23T>A) c.494T>A (p.Phe165Tyr) c.179T>A (p.Phe60Tyr) c.80T>A (p.Phe27Tyr) c.701T>A (p.Phe234Tyr) c.386T>A (p.Phe129Tyr) | |
| 14 | g.24081556A>C | CA389279062 | NRL | c.394T>G (p.Phe132Val) c.-24T>G (n.-24T>G) c.493T>G (p.Phe165Val) c.178T>G (p.Phe60Val) c.79T>G (p.Phe27Val) c.700T>G (p.Phe234Val) c.385T>G (p.Phe129Val) | |
| 14 | g.24081556A>G | CA389279063 | NRL | c.394T>C (p.Phe132Leu) c.-24T>C (n.-24T>C) c.493T>C (p.Phe165Leu) c.178T>C (p.Phe60Leu) c.79T>C (p.Phe27Leu) c.700T>C (p.Phe234Leu) c.385T>C (p.Phe129Leu) | |
| 14 | g.24081556A>T | CA389279064 | NRL | c.394T>A (p.Phe132Ile) c.-24T>A (n.-24T>A) c.493T>A (p.Phe165Ile) c.178T>A (p.Phe60Ile) c.79T>A (p.Phe27Ile) c.700T>A (p.Phe234Ile) c.385T>A (p.Phe129Ile) | |
| 14 | g.24081557C>A | CA485776098 | NRL | c.393G>T (p.Arg131=) c.-25G>T (n.-25G>T) c.492G>T (p.Arg164=) c.177G>T (p.Arg59=) c.78G>T (p.Arg26=) c.699G>T (p.Arg233=) c.384G>T (p.Arg128=) | |
| 14 | g.24081557C>G | CA485776099 | NRL | c.393G>C (p.Arg131=) c.-25G>C (n.-25G>C) c.492G>C (p.Arg164=) c.177G>C (p.Arg59=) c.78G>C (p.Arg26=) c.699G>C (p.Arg233=) c.384G>C (p.Arg128=) | gnomAD v4 |
| 14 | g.24081557C>T | CA485776100 | NRL | c.393G>A (p.Arg131=) c.-25G>A (n.-25G>A) c.492G>A (p.Arg164=) c.177G>A (p.Arg59=) c.78G>A (p.Arg26=) c.699G>A (p.Arg233=) c.384G>A (p.Arg128=) | gnomAD v4 |
| 14 | g.24081558C>A | CA257868170 | NRL | c.392G>T (p.Arg131Leu) c.-26G>T (n.-26G>T) c.491G>T (p.Arg164Leu) c.176G>T (p.Arg59Leu) c.77G>T (p.Arg26Leu) c.698G>T (p.Arg233Leu) c.383G>T (p.Arg128Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081558C= | CA2123778015 | NRL | c.392G= (p.Arg131=) c.-26G= (n.-26G=) c.491G= (p.Arg164=) c.176G= (p.Arg59=) c.77G= (p.Arg26=) c.698G= (p.Arg233=) c.383G= (p.Arg128=) | |
| 14 | g.24081558C>G | CA389279088 | NRL | c.392G>C (p.Arg131Pro) c.-26G>C (n.-26G>C) c.491G>C (p.Arg164Pro) c.176G>C (p.Arg59Pro) c.77G>C (p.Arg26Pro) c.698G>C (p.Arg233Pro) c.383G>C (p.Arg128Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081558C>T | CA389279090 | NRL | c.392G>A (p.Arg131Gln) c.-26G>A (n.-26G>A) c.491G>A (p.Arg164Gln) c.176G>A (p.Arg59Gln) c.77G>A (p.Arg26Gln) c.698G>A (p.Arg233Gln) c.383G>A (p.Arg128Gln) | gnomAD v4 |
| 14 | g.24081558_24081559insACA | CA2800892057 | NRL | c.391_392insTGT (p.Arg131delinsLeuTrp) c.-27_-26insTGT (n.-27_-26insTGT) c.490_491insTGT (p.Arg164delinsLeuTrp) c.175_176insTGT (p.Arg59delinsLeuTrp) c.76_77insTGT (p.Arg26delinsLeuTrp) c.697_698insTGT (p.Arg233delinsLeuTrp) c.382_383insTGT (p.Arg128delinsLeuTrp) | |
| 14 | g.24081559G>A | CA389279102 | NRL | c.391C>T (p.Arg131Trp) c.-27C>T (n.-27C>T) c.490C>T (p.Arg164Trp) c.175C>T (p.Arg59Trp) c.76C>T (p.Arg26Trp) c.697C>T (p.Arg233Trp) c.382C>T (p.Arg128Trp) | gnomAD v4 |
| 14 | g.24081559G>C | CA389279110 | NRL | c.391C>G (p.Arg131Gly) c.-27C>G (n.-27C>G) c.490C>G (p.Arg164Gly) c.175C>G (p.Arg59Gly) c.76C>G (p.Arg26Gly) c.697C>G (p.Arg233Gly) c.382C>G (p.Arg128Gly) | |
| 14 | g.24081559G>T | CA485776102 | NRL | c.391C>A (p.Arg131=) c.-27C>A (n.-27C>A) c.490C>A (p.Arg164=) c.175C>A (p.Arg59=) c.76C>A (p.Arg26=) c.697C>A (p.Arg233=) c.382C>A (p.Arg128=) | gnomAD v4 |
| 14 | g.24081560C>A | CA389279112 | NRL | c.390G>T (p.Glu130Asp) c.-28G>T (n.-28G>T) c.489G>T (p.Glu163Asp) c.174G>T (p.Glu58Asp) c.75G>T (p.Glu25Asp) c.696G>T (p.Glu232Asp) c.381G>T (p.Glu127Asp) | gnomAD v4 |
| 14 | g.24081560C>G | CA389279115 | NRL | c.390G>C (p.Glu130Asp) c.-28G>C (n.-28G>C) c.489G>C (p.Glu163Asp) c.174G>C (p.Glu58Asp) c.75G>C (p.Glu25Asp) c.696G>C (p.Glu232Asp) c.381G>C (p.Glu127Asp) | |
| 14 | g.24081560C>T | CA485776103 | NRL | c.390G>A (p.Glu130=) c.-28G>A (n.-28G>A) c.489G>A (p.Glu163=) c.174G>A (p.Glu58=) c.75G>A (p.Glu25=) c.696G>A (p.Glu232=) c.381G>A (p.Glu127=) | gnomAD v4 |
| 14 | g.24081561del | CA2800892058 | NRL | c.389del (p.Glu130GlyfsTer16) c.-29del (n.-29del) c.488del (p.Glu163GlyfsTer16) c.173del (p.Glu58GlyfsTer16) c.74del (p.Glu25GlyfsTer16) c.695del (p.Glu232GlyfsTer16) c.380del (p.Glu127GlyfsTer16) | |
| 14 | g.24081561T>A | CA389279117 | NRL | c.389A>T (p.Glu130Val) c.-29A>T (n.-29A>T) c.488A>T (p.Glu163Val) c.173A>T (p.Glu58Val) c.74A>T (p.Glu25Val) c.695A>T (p.Glu232Val) c.380A>T (p.Glu127Val) | gnomAD v4 |
| 14 | g.24081561T>C | CA389279120 | NRL | c.389A>G (p.Glu130Gly) c.-29A>G (n.-29A>G) c.488A>G (p.Glu163Gly) c.173A>G (p.Glu58Gly) c.74A>G (p.Glu25Gly) c.695A>G (p.Glu232Gly) c.380A>G (p.Glu127Gly) | gnomAD v4 |
| 14 | g.24081561T>G | CA389279124 | NRL | c.389A>C (p.Glu130Ala) c.-29A>C (n.-29A>C) c.488A>C (p.Glu163Ala) c.173A>C (p.Glu58Ala) c.74A>C (p.Glu25Ala) c.695A>C (p.Glu232Ala) c.380A>C (p.Glu127Ala) | |
| 14 | g.24081562C>A | CA389279126 | NRL | c.388G>T (p.Glu130Ter) c.-30G>T (n.-30G>T) c.487G>T (p.Glu163Ter) c.172G>T (p.Glu58Ter) c.73G>T (p.Glu25Ter) c.694G>T (p.Glu232Ter) c.379G>T (p.Glu127Ter) | gnomAD v4 |
| 14 | g.24081562C>G | CA389279128 | NRL | c.388G>C (p.Glu130Gln) c.-30G>C (n.-30G>C) c.487G>C (p.Glu163Gln) c.172G>C (p.Glu58Gln) c.73G>C (p.Glu25Gln) c.694G>C (p.Glu232Gln) c.379G>C (p.Glu127Gln) | gnomAD v4 |
| 14 | g.24081562C>T | CA389279131 | NRL | c.388G>A (p.Glu130Lys) c.-30G>A (n.-30G>A) c.487G>A (p.Glu163Lys) c.172G>A (p.Glu58Lys) c.73G>A (p.Glu25Lys) c.694G>A (p.Glu232Lys) c.379G>A (p.Glu127Lys) | gnomAD v4 |
| 14 | g.24081562_24081563insAG | CA2800892059 | NRL | c.387_388insCT (p.Glu130LeufsTer17) c.-31_-30insCT (n.-31_-30insCT) c.486_487insCT (p.Glu163LeufsTer17) c.171_172insCT (p.Glu58LeufsTer17) c.72_73insCT (p.Glu25LeufsTer17) c.693_694insCT (p.Glu232LeufsTer17) c.378_379insCT (p.Glu127LeufsTer17) | |
| 14 | g.24081563T>A | CA485657821 | NRL | c.387A>T (p.Ala129=) c.-31A>T (n.-31A>T) c.486A>T (p.Ala162=) c.171A>T (p.Ala57=) c.72A>T (p.Ala24=) c.693A>T (p.Ala231=) c.378A>T (p.Ala126=) | |
| 14 | g.24081563T>C | CA485657822 | NRL | c.387A>G (p.Ala129=) c.-31A>G (n.-31A>G) c.486A>G (p.Ala162=) c.171A>G (p.Ala57=) c.72A>G (p.Ala24=) c.693A>G (p.Ala231=) c.378A>G (p.Ala126=) | |
| 14 | g.24081563T>G | CA485657823 | NRL | c.387A>C (p.Ala129=) c.-31A>C (n.-31A>C) c.486A>C (p.Ala162=) c.171A>C (p.Ala57=) c.72A>C (p.Ala24=) c.693A>C (p.Ala231=) c.378A>C (p.Ala126=) |