| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47441854G>A | CA380330086 | RAPSN | c.758C>T (p.Ala253Val) c.599C>T (p.Ala200Val) | gnomAD v4 |
| 11 | g.47441854G>C | CA380330095 | RAPSN | c.758C>G (p.Ala253Gly) c.599C>G (p.Ala200Gly) | |
| 11 | g.47441854G>T | CA380330089 | RAPSN | c.758C>A (p.Ala253Asp) c.599C>A (p.Ala200Asp) | gnomAD v4 |
| 11 | g.47441855C>A | CA380330099 | RAPSN | c.757G>T (p.Ala253Ser) c.598G>T (p.Ala200Ser) | gnomAD v4 |
| 11 | g.47441855C>G | CA380330103 | RAPSN | c.757G>C (p.Ala253Pro) c.598G>C (p.Ala200Pro) | |
| 11 | g.47441855C>T | CA380330101 | RAPSN | c.757G>A (p.Ala253Thr) c.598G>A (p.Ala200Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441856G>A | CA5976650 | RAPSN | c.756C>T (p.Phe252=) c.597C>T (p.Phe199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441856G>C | CA380330112 | RAPSN | c.756C>G (p.Phe252Leu) c.597C>G (p.Phe199Leu) | |
| 11 | g.47441856G= | CA1969387697 | RAPSN | c.756C= (p.Phe252=) c.597C= (p.Phe199=) | |
| 11 | g.47441856G>T | CA380330110 | RAPSN | c.756C>A (p.Phe252Leu) c.597C>A (p.Phe199Leu) | gnomAD v4 |
| 11 | g.47441857A>C | CA380330115 | RAPSN | c.755T>G (p.Phe252Cys) c.596T>G (p.Phe199Cys) | |
| 11 | g.47441857A>G | CA380330116 | RAPSN | c.755T>C (p.Phe252Ser) c.596T>C (p.Phe199Ser) | |
| 11 | g.47441857A>T | CA380330117 | RAPSN | c.755T>A (p.Phe252Tyr) c.596T>A (p.Phe199Tyr) | |
| 11 | g.47441858A>C | CA380330118 | RAPSN | c.754T>G (p.Phe252Val) c.595T>G (p.Phe199Val) | |
| 11 | g.47441858A>G | CA380330119 | RAPSN | c.754T>C (p.Phe252Leu) c.595T>C (p.Phe199Leu) | |
| 11 | g.47441858A>T | CA380330121 | RAPSN | c.754T>A (p.Phe252Ile) c.595T>A (p.Phe199Ile) | gnomAD v4 |
| 11 | g.47441860_47441862del | CA2830782724 | RAPSN | c.752_754del (p.Cys251del) c.593_595del (p.Cys198del) | |
| 11 | g.47441859G>A | CA474218274 | RAPSN | c.753C>T (p.Cys251=) c.594C>T (p.Cys198=) | gnomAD v4 |
| 11 | g.47441859G>C | CA380330123 | RAPSN | c.753C>G (p.Cys251Trp) c.594C>G (p.Cys198Trp) | |
| 11 | g.47441859G>T | CA380330126 | RAPSN | c.753C>A (p.Cys251Ter) c.594C>A (p.Cys198Ter) | gnomAD v4 |
| 11 | g.47441860C>A | CA380330135 | RAPSN | c.752G>T (p.Cys251Phe) c.593G>T (p.Cys198Phe) | gnomAD v4 |
| 11 | g.47441860C>G | CA380330136 | RAPSN | c.752G>C (p.Cys251Ser) c.593G>C (p.Cys198Ser) | |
| 11 | g.47441860C>T | CA380330139 | RAPSN | c.752G>A (p.Cys251Tyr) c.593G>A (p.Cys198Tyr) | gnomAD v4 |
| 11 | g.47441861A>C | CA380330144 | RAPSN | c.751T>G (p.Cys251Gly) c.592T>G (p.Cys198Gly) | |
| 11 | g.47441861A>G | CA380330143 | RAPSN | c.751T>C (p.Cys251Arg) c.592T>C (p.Cys198Arg) | |
| 11 | g.47441861A>T | CA380330142 | RAPSN | c.751T>A (p.Cys251Ser) c.592T>A (p.Cys198Ser) | |
| 11 | g.47441862G>A | CA474218285 | RAPSN | c.750C>T (p.Leu250=) c.591C>T (p.Leu197=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441862G>C | CA474218288 | RAPSN | c.750C>G (p.Leu250=) c.591C>G (p.Leu197=) | |
| 11 | g.47441862G>T | CA474218297 | RAPSN | c.750C>A (p.Leu250=) c.591C>A (p.Leu197=) | gnomAD v4 |
| 11 | g.47441863A= | CA1969387698 | RAPSN | c.749T= (p.Leu250=) c.590T= (p.Leu197=) | |
| 11 | g.47441863A>C | CA380330147 | RAPSN | c.749T>G (p.Leu250Arg) c.590T>G (p.Leu197Arg) | |
| 11 | g.47441863A>G | CA380330148 | RAPSN | c.749T>C (p.Leu250Pro) c.590T>C (p.Leu197Pro) | |
| 11 | g.47441863A>T | CA380330154 | RAPSN | c.749T>A (p.Leu250His) c.590T>A (p.Leu197His) | dbSNP |
| 11 | g.47441864G>A | CA380330157 | RAPSN | c.748C>T (p.Leu250Phe) c.589C>T (p.Leu197Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441864G>C | CA380330163 | RAPSN | c.748C>G (p.Leu250Val) c.589C>G (p.Leu197Val) | |
| 11 | g.47441864G= | CA1969387699 | RAPSN | c.748C= (p.Leu250=) c.589C= (p.Leu197=) | |
| 11 | g.47441864G>T | CA380330170 | RAPSN | c.748C>A (p.Leu250Ile) c.589C>A (p.Leu197Ile) | gnomAD v4 |
| 11 | g.47441865C>A | CA474218306 | RAPSN | c.747G>T (p.Leu249=) c.588G>T (p.Leu196=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441865C= | CA1969387700 | RAPSN | c.747G= (p.Leu249=) c.588G= (p.Leu196=) | |
| 11 | g.47441865C>G | CA474218309 | RAPSN | c.747G>C (p.Leu249=) c.588G>C (p.Leu196=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441865C>T | CA474218312 | RAPSN | c.747G>A (p.Leu249=) c.588G>A (p.Leu196=) | gnomAD v4 |
| 11 | g.47441866A>C | CA380330172 | RAPSN | c.746T>G (p.Leu249Arg) c.587T>G (p.Leu196Arg) | |
| 11 | g.47441866A>G | CA380330174 | RAPSN | c.746T>C (p.Leu249Pro) c.587T>C (p.Leu196Pro) | |
| 11 | g.47441866A>T | CA380330181 | RAPSN | c.746T>A (p.Leu249Gln) c.587T>A (p.Leu196Gln) | gnomAD v4 |
| 11 | g.47441867G>A | CA474218319 | RAPSN | c.745C>T (p.Leu249=) c.586C>T (p.Leu196=) | ClinVar |
| 11 | g.47441867G>C | CA380330189 | RAPSN | c.745C>G (p.Leu249Val) c.586C>G (p.Leu196Val) | |
| 11 | g.47441867G>T | CA380330191 | RAPSN | c.745C>A (p.Leu249Met) c.586C>A (p.Leu196Met) | gnomAD v4 |
| 11 | g.47441868del | CA2613403478 | RAPSN | c.745del (p.Leu249CysfsTer25) c.745del (p.Leu249CysfsTer16) c.586del (p.Leu196CysfsTer25) c.745del (p.Leu249CysfsTer?) | gnomAD v4 |
| 11 | g.47441868G>A | CA5976651 | RAPSN | c.744C>T (p.Cys248=) c.585C>T (p.Cys195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441868G>C | CA380330195 | RAPSN | c.744C>G (p.Cys248Trp) c.585C>G (p.Cys195Trp) | |
| 11 | g.47441868G= | CA1969387701 | RAPSN | c.744C= (p.Cys248=) c.585C= (p.Cys195=) | |
| 11 | g.47441868G>T | CA380330193 | RAPSN | c.744C>A (p.Cys248Ter) c.585C>A (p.Cys195Ter) | gnomAD v4 |
| 11 | g.47441869C>A | CA380330197 | RAPSN | c.743G>T (p.Cys248Phe) c.584G>T (p.Cys195Phe) | gnomAD v4 |
| 11 | g.47441869C>G | CA380330207 | RAPSN | c.743G>C (p.Cys248Ser) c.584G>C (p.Cys195Ser) | |
| 11 | g.47441869C>T | CA380330209 | RAPSN | c.743G>A (p.Cys248Tyr) c.584G>A (p.Cys195Tyr) | gnomAD v4 |
| 11 | g.47441870A>C | CA380330210 | RAPSN | c.742T>G (p.Cys248Gly) c.583T>G (p.Cys195Gly) | |
| 11 | g.47441870A>G | CA380330212 | RAPSN | c.742T>C (p.Cys248Arg) c.583T>C (p.Cys195Arg) | gnomAD v4 |
| 11 | g.47441870A>T | CA380330222 | RAPSN | c.742T>A (p.Cys248Ser) c.583T>A (p.Cys195Ser) | |
| 11 | g.47441871G>A | CA474218337 | RAPSN | c.741C>T (p.Leu247=) c.582C>T (p.Leu194=) | gnomAD v4 COSMIC |
| 11 | g.47441871G>C | CA5976652 | RAPSN | c.741C>G (p.Leu247=) c.582C>G (p.Leu194=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441871G= | CA1969387702 | RAPSN | c.741C= (p.Leu247=) c.582C= (p.Leu194=) | |
| 11 | g.47441871G>T | CA474218340 | RAPSN | c.741C>A (p.Leu247=) c.582C>A (p.Leu194=) | gnomAD v4 |
| 11 | g.47441872A>C | CA380330229 | RAPSN | c.740T>G (p.Leu247Arg) c.581T>G (p.Leu194Arg) | |
| 11 | g.47441872A>G | CA380330230 | RAPSN | c.740T>C (p.Leu247Pro) c.581T>C (p.Leu194Pro) | gnomAD v4 |
| 11 | g.47441872A>T | CA380330231 | RAPSN | c.740T>A (p.Leu247His) c.581T>A (p.Leu194His) | |
| 11 | g.47441873G>A | CA380330232 | RAPSN | c.739C>T (p.Leu247Phe) c.580C>T (p.Leu194Phe) | dbSNP gnomAD v4 COSMIC |
| 11 | g.47441873G>C | CA380330233 | RAPSN | c.739C>G (p.Leu247Val) c.580C>G (p.Leu194Val) | |
| 11 | g.47441873G= | CA1969387703 | RAPSN | c.739C= (p.Leu247=) c.580C= (p.Leu194=) | |
| 11 | g.47441873G>T | CA380330235 | RAPSN | c.739C>A (p.Leu247Ile) c.580C>A (p.Leu194Ile) | gnomAD v4 |
| 11 | g.47441874C>A | CA474218346 | RAPSN | c.738G>T (p.Ala246=) c.579G>T (p.Ala193=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441874C= | CA1969387704 | RAPSN | c.738G= (p.Ala246=) c.579G= (p.Ala193=) | |
| 11 | g.47441874C>G | CA474218344 | RAPSN | c.738G>C (p.Ala246=) c.579G>C (p.Ala193=) | gnomAD v4 |
| 11 | g.47441874C>T | CA221716734 | RAPSN | c.738G>A (p.Ala246=) c.579G>A (p.Ala193=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441874_47441875insT | CA2574817152 | RAPSN | c.737_738insA (p.Leu247AlafsTer8) c.578_579insA (p.Leu194AlafsTer8) | ClinVar |
| 11 | g.47441875G>A | CA275256 | RAPSN | c.737C>T (p.Ala246Val) c.578C>T (p.Ala193Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441875G>C | CA380330238 | RAPSN | c.737C>G (p.Ala246Gly) c.578C>G (p.Ala193Gly) | |
| 11 | g.47441875G= | CA1969387705 | RAPSN | c.737C= (p.Ala246=) c.578C= (p.Ala193=) | |
| 11 | g.47441875G>T | CA380330239 | RAPSN | c.737C>A (p.Ala246Glu) c.578C>A (p.Ala193Glu) | gnomAD v4 |
| 11 | g.47441876C>A | CA380330244 | RAPSN | c.736G>T (p.Ala246Ser) c.577G>T (p.Ala193Ser) | gnomAD v4 |
| 11 | g.47441876C>G | CA380330246 | RAPSN | c.736G>C (p.Ala246Pro) c.577G>C (p.Ala193Pro) | |
| 11 | g.47441876C>T | CA380330251 | RAPSN | c.736G>A (p.Ala246Thr) c.577G>A (p.Ala193Thr) | gnomAD v4 |
| 11 | g.47441877C>A | CA380330253 | RAPSN | c.735G>T (p.Gln245His) c.576G>T (p.Gln192His) | gnomAD v4 |
| 11 | g.47441877C>G | CA380330256 | RAPSN | c.735G>C (p.Gln245His) c.576G>C (p.Gln192His) | |
| 11 | g.47441877C>T | CA474218361 | RAPSN | c.735G>A (p.Gln245=) c.576G>A (p.Gln192=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441878T>A | CA380330260 | RAPSN | c.734A>T (p.Gln245Leu) c.575A>T (p.Gln192Leu) | |
| 11 | g.47441878T>C | CA380330264 | RAPSN | c.734A>G (p.Gln245Arg) c.575A>G (p.Gln192Arg) | gnomAD v4 |
| 11 | g.47441878T>G | CA380330265 | RAPSN | c.734A>C (p.Gln245Pro) c.575A>C (p.Gln192Pro) | |
| 11 | g.47441879G>A | CA380330266 | RAPSN | c.733C>T (p.Gln245Ter) c.574C>T (p.Gln192Ter) | ClinVar gnomAD v4 |
| 11 | g.47441879G>C | CA380330267 | RAPSN | c.733C>G (p.Gln245Glu) c.574C>G (p.Gln192Glu) | gnomAD v4 |
| 11 | g.47441879G= | CA1969387706 | RAPSN | c.733C= (p.Gln245=) c.574C= (p.Gln192=) | |
| 11 | g.47441879G>T | CA380330268 | RAPSN | c.733C>A (p.Gln245Lys) c.574C>A (p.Gln192Lys) | gnomAD v4 |
| 11 | g.47441880C>A | CA474218369 | RAPSN | c.732G>T (p.Leu244=) c.573G>T (p.Leu191=) | gnomAD v4 |
| 11 | g.47441880C>G | CA474218372 | RAPSN | c.732G>C (p.Leu244=) c.573G>C (p.Leu191=) | |
| 11 | g.47441880C>T | CA474218371 | RAPSN | c.732G>A (p.Leu244=) c.573G>A (p.Leu191=) | gnomAD v4 |
| 11 | g.47441880_47441923dup | CA1139661959 | RAPSN | c.691-2_732dup c.532-2_573dup | ClinVar dbSNP |
| 11 | g.47441881A= | CA1969387707 | RAPSN | c.731T= (p.Leu244=) c.572T= (p.Leu191=) | |
| 11 | g.47441881A>C | CA380330281 | RAPSN | c.731T>G (p.Leu244Arg) c.572T>G (p.Leu191Arg) | |
| 11 | g.47441881A>G | CA380330278 | RAPSN | c.731T>C (p.Leu244Pro) c.572T>C (p.Leu191Pro) | ClinVar dbSNP |
| 11 | g.47441881A>T | CA380330271 | RAPSN | c.731T>A (p.Leu244Gln) c.572T>A (p.Leu191Gln) | gnomAD v4 |
| 11 | g.47441882G>A | CA474218383 | RAPSN | c.730C>T (p.Leu244=) c.571C>T (p.Leu191=) | gnomAD v4 |
| 11 | g.47441882G>C | CA380330285 | RAPSN | c.730C>G (p.Leu244Val) c.571C>G (p.Leu191Val) | |
| 11 | g.47441882G>T | CA380330292 | RAPSN | c.730C>A (p.Leu244Met) c.571C>A (p.Leu191Met) | gnomAD v4 |
| 11 | g.47441883T>A | CA474218385 | RAPSN | c.729A>T (p.Pro243=) c.570A>T (p.Pro190=) | gnomAD v4 |
| 11 | g.47441883T>C | CA474218386 | RAPSN | c.729A>G (p.Pro243=) c.570A>G (p.Pro190=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441883T>G | CA474218389 | RAPSN | c.729A>C (p.Pro243=) c.570A>C (p.Pro190=) | dbSNP |
| 11 | g.47441883T= | CA1969387708 | RAPSN | c.729A= (p.Pro243=) c.570A= (p.Pro190=) | |
| 11 | g.47441884G>A | CA380330296 | RAPSN | c.728C>T (p.Pro243Leu) c.569C>T (p.Pro190Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441884G>C | CA380330298 | RAPSN | c.728C>G (p.Pro243Arg) c.569C>G (p.Pro190Arg) | |
| 11 | g.47441884G= | CA1969387709 | RAPSN | c.728C= (p.Pro243=) c.569C= (p.Pro190=) | |
| 11 | g.47441884G>T | CA380330305 | RAPSN | c.728C>A (p.Pro243Gln) c.569C>A (p.Pro190Gln) | gnomAD v4 |
| 11 | g.47441885G>A | CA380330316 | RAPSN | c.727C>T (p.Pro243Ser) c.568C>T (p.Pro190Ser) | gnomAD v4 |
| 11 | g.47441885G>C | CA380330318 | RAPSN | c.727C>G (p.Pro243Ala) c.568C>G (p.Pro190Ala) | gnomAD v4 |
| 11 | g.47441885G>T | CA380330321 | RAPSN | c.727C>A (p.Pro243Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
| 11 | g.47441886C>A | CA474218398 | RAPSN | c.726G>T (p.Arg242=) c.567G>T (p.Arg189=) | |
| 11 | g.47441886C= | CA1969387710 | RAPSN | c.726G= (p.Arg242=) c.567G= (p.Arg189=) | |
| 11 | g.47441886C>G | CA474218400 | RAPSN | c.726G>C (p.Arg242=) c.567G>C (p.Arg189=) | |
| 11 | g.47441886C>T | CA5976653 | RAPSN | c.726G>A (p.Arg242=) c.567G>A (p.Arg189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441887C>A | CA380330336 | RAPSN | c.725G>T (p.Arg242Leu) c.566G>T (p.Arg189Leu) | gnomAD v4 |
| 11 | g.47441887C= | CA1969387711 | RAPSN | c.725G= (p.Arg242=) c.566G= (p.Arg189=) | |
| 11 | g.47441887C>G | CA5976655 | RAPSN | c.725G>C (p.Arg242Pro) c.566G>C (p.Arg189Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441887C>T | CA5976654 | RAPSN | c.725G>A (p.Arg242Gln) c.566G>A (p.Arg189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441888G>A | CA221716778 | RAPSN | c.724C>T (p.Arg242Trp) c.565C>T (p.Arg189Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441888G>C | CA380330346 | RAPSN | c.724C>G (p.Arg242Gly) c.565C>G (p.Arg189Gly) | ClinVar |
| 11 | g.47441888G= | CA1969387712 | RAPSN | c.724C= (p.Arg242=) c.565C= (p.Arg189=) | |
| 11 | g.47441888G>T | CA474218415 | RAPSN | c.724C>A (p.Arg242=) c.565C>A (p.Arg189=) | gnomAD v4 |
| 11 | g.47441889G>A | CA5976656 | RAPSN | c.723C>T (p.Asp241=) c.564C>T (p.Asp188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441889G>C | CA380330356 | RAPSN | c.723C>G (p.Asp241Glu) c.564C>G (p.Asp188Glu) | |
| 11 | g.47441889G= | CA1969387713 | RAPSN | c.723C= (p.Asp241=) c.564C= (p.Asp188=) | |
| 11 | g.47441889G>T | CA380330353 | RAPSN | c.723C>A (p.Asp241Glu) c.564C>A (p.Asp188Glu) | gnomAD v4 |
| 11 | g.47441890T>A | CA380330361 | RAPSN | c.722A>T (p.Asp241Val) c.563A>T (p.Asp188Val) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441890T>C | CA380330364 | RAPSN | c.722A>G (p.Asp241Gly) c.563A>G (p.Asp188Gly) | gnomAD v4 |
| 11 | g.47441890T>G | CA380330367 | RAPSN | c.722A>C (p.Asp241Ala) c.563A>C (p.Asp188Ala) | dbSNP gnomAD v4 |
| 11 | g.47441890T= | CA1969387714 | RAPSN | c.722A= (p.Asp241=) c.563A= (p.Asp188=) | |
| 11 | g.47441891C>A | CA380330369 | RAPSN | c.721G>T (p.Asp241Tyr) c.562G>T (p.Asp188Tyr) | gnomAD v4 |
| 11 | g.47441891C= | CA1969387715 | RAPSN | c.721G= (p.Asp241=) c.562G= (p.Asp188=) | |
| 11 | g.47441891C>G | CA380330370 | RAPSN | c.721G>C (p.Asp241His) c.562G>C (p.Asp188His) | |
| 11 | g.47441891C>T | CA380330371 | RAPSN | c.721G>A (p.Asp241Asn) c.562G>A (p.Asp188Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47441894del | CA2613403883 | RAPSN | c.721del (p.Asp241ThrfsTer?) c.721del (p.Asp241ThrfsTer24) c.562del (p.Asp188ThrfsTer?) | gnomAD v4 |
| 11 | g.47441892C>A | CA474218428 | RAPSN | c.720G>T (p.Gly240=) c.561G>T (p.Gly187=) | gnomAD v4 |
| 11 | g.47441892C>G | CA474218429 | RAPSN | c.720G>C (p.Gly240=) c.561G>C (p.Gly187=) | gnomAD v4 |
| 11 | g.47441892C>T | CA474218431 | RAPSN | c.720G>A (p.Gly240=) c.561G>A (p.Gly187=) | gnomAD v4 |
| 11 | g.47441893C>A | CA380330375 | RAPSN | c.719G>T (p.Gly240Val) c.560G>T (p.Gly187Val) | gnomAD v4 |
| 11 | g.47441893C>G | CA380330377 | RAPSN | c.719G>C (p.Gly240Ala) c.560G>C (p.Gly187Ala) | |
| 11 | g.47441893C>T | CA380330381 | RAPSN | c.719G>A (p.Gly240Glu) c.560G>A (p.Gly187Glu) | gnomAD v4 |
| 11 | g.47441894C>A | CA221716809 | RAPSN | c.718G>T (p.Gly240Trp) c.559G>T (p.Gly187Trp) | dbSNP gnomAD v4 |
| 11 | g.47441894C= | CA1969387716 | RAPSN | c.718G= (p.Gly240=) c.559G= (p.Gly187=) | |
| 11 | g.47441894C>G | CA380330388 | RAPSN | c.718G>C (p.Gly240Arg) c.559G>C (p.Gly187Arg) | dbSNP gnomAD v4 |
| 11 | g.47441894C>T | CA5976657 | RAPSN | c.718G>A (p.Gly240Arg) c.559G>A (p.Gly187Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441895G>A | CA5976658 | RAPSN | c.717C>T (p.His239=) c.558C>T (p.His186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441895G>C | CA380330395 | RAPSN | c.717C>G (p.His239Gln) c.558C>G (p.His186Gln) | |
| 11 | g.47441895G= | CA1969387717 | RAPSN | c.717C= (p.His239=) c.558C= (p.His186=) | |
| 11 | g.47441895G>T | CA380330393 | RAPSN | c.717C>A (p.His239Gln) c.558C>A (p.His186Gln) | gnomAD v4 |
| 11 | g.47441896T>A | CA380330405 | RAPSN | c.716A>T (p.His239Leu) c.557A>T (p.His186Leu) | |
| 11 | g.47441896T>C | CA380330408 | RAPSN | c.716A>G (p.His239Arg) c.557A>G (p.His186Arg) | gnomAD v4 |
| 11 | g.47441896T>G | CA380330409 | RAPSN | c.716A>C (p.His239Pro) c.557A>C (p.His186Pro) | dbSNP |
| 11 | g.47441896T= | CA1969387718 | RAPSN | c.716A= (p.His239=) c.557A= (p.His186=) | |
| 11 | g.47441897G>A | CA221716825 | RAPSN | c.715C>T (p.His239Tyr) c.556C>T (p.His186Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441897G>C | CA380330419 | RAPSN | c.715C>G (p.His239Asp) c.556C>G (p.His186Asp) | |
| 11 | g.47441897G= | CA1969387719 | RAPSN | c.715C= (p.His239=) c.556C= (p.His186=) | |
| 11 | g.47441897G>T | CA380330422 | RAPSN | c.715C>A (p.His239Asn) c.556C>A (p.His186Asn) | gnomAD v4 |
| 11 | g.47441898C>A | CA380330437 | RAPSN | c.714G>T (p.Gln238His) c.555G>T (p.Gln185His) | gnomAD v4 |
| 11 | g.47441898C>G | CA380330434 | RAPSN | c.714G>C (p.Gln238His) c.555G>C (p.Gln185His) | gnomAD v4 |
| 11 | g.47441898C>T | CA474218448 | RAPSN | c.714G>A (p.Gln238=) c.555G>A (p.Gln185=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441899T>A | CA380330438 | RAPSN | c.713A>T (p.Gln238Leu) c.554A>T (p.Gln185Leu) | |
| 11 | g.47441899T>C | CA380330440 | RAPSN | c.713A>G (p.Gln238Arg) c.554A>G (p.Gln185Arg) | gnomAD v4 |
| 11 | g.47441899T>G | CA380330443 | RAPSN | c.713A>C (p.Gln238Pro) c.554A>C (p.Gln185Pro) | |
| 11 | g.47441900G>A | CA380330446 | RAPSN | c.712C>T (p.Gln238Ter) c.553C>T (p.Gln185Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441900G>C | CA380330449 | RAPSN | c.712C>G (p.Gln238Glu) c.553C>G (p.Gln185Glu) | |
| 11 | g.47441900G= | CA1969387720 | RAPSN | c.712C= (p.Gln238=) c.553C= (p.Gln185=) | |
| 11 | g.47441900G>T | CA380330451 | RAPSN | c.712C>A (p.Gln238Lys) c.553C>A (p.Gln185Lys) | gnomAD v4 |
| 11 | g.47441901C>A | CA474218455 | RAPSN | c.711G>T (p.Leu237=) c.552G>T (p.Leu184=) | gnomAD v4 |
| 11 | g.47441901C>G | CA474218457 | RAPSN | c.711G>C (p.Leu237=) c.552G>C (p.Leu184=) | |
| 11 | g.47441901C>T | CA474218459 | RAPSN | c.711G>A (p.Leu237=) c.552G>A (p.Leu184=) | gnomAD v4 |
| 11 | g.47441902A= | CA1969387721 | RAPSN | c.710T= (p.Leu237=) c.551T= (p.Leu184=) | |
| 11 | g.47441902A>C | CA380330453 | RAPSN | c.710T>G (p.Leu237Arg) c.551T>G (p.Leu184Arg) | dbSNP |
| 11 | g.47441902A>G | CA380330458 | RAPSN | c.710T>C (p.Leu237Pro) c.551T>C (p.Leu184Pro) | gnomAD v4 |
| 11 | g.47441902A>T | CA380330455 | RAPSN | c.710T>A (p.Leu237Gln) c.551T>A (p.Leu184Gln) | |
| 11 | g.47441903G>A | CA474218464 | RAPSN | c.709C>T (p.Leu237=) c.550C>T (p.Leu184=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441903G>C | CA380330461 | RAPSN | c.709C>G (p.Leu237Val) c.550C>G (p.Leu184Val) | |
| 11 | g.47441903G>T | CA380330464 | RAPSN | c.709C>A (p.Leu237Met) c.550C>A (p.Leu184Met) | gnomAD v4 |
| 11 | g.47441904C>A | CA474218467 | RAPSN | c.708G>T (p.Ala236=) c.549G>T (p.Ala183=) | gnomAD v4 |
| 11 | g.47441904C= | CA1969387722 | RAPSN | c.708G= (p.Ala236=) c.549G= (p.Ala183=) | |
| 11 | g.47441904C>G | CA474218469 | RAPSN | c.708G>C (p.Ala236=) c.549G>C (p.Ala183=) | gnomAD v4 |
| 11 | g.47441904C>T | CA5976659 | RAPSN | c.708G>A (p.Ala236=) c.549G>A (p.Ala183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441905G>A | CA380330465 | RAPSN | c.707C>T (p.Ala236Val) c.548C>T (p.Ala183Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441905G>C | CA380330473 | RAPSN | c.707C>G (p.Ala236Gly) c.548C>G (p.Ala183Gly) | |
| 11 | g.47441905G= | CA1969387723 | RAPSN | c.707C= (p.Ala236=) c.548C= (p.Ala183=) | |
| 11 | g.47441905G>T | CA380330476 | RAPSN | c.707C>A (p.Ala236Glu) c.548C>A (p.Ala183Glu) | gnomAD v4 |
| 11 | g.47441906C>A | CA380330479 | RAPSN | c.706G>T (p.Ala236Ser) c.547G>T (p.Ala183Ser) | gnomAD v4 |
| 11 | g.47441906C= | CA1969387724 | RAPSN | c.706G= (p.Ala236=) c.547G= (p.Ala183=) | |
| 11 | g.47441906C>G | CA380330483 | RAPSN | c.706G>C (p.Ala236Pro) c.547G>C (p.Ala183Pro) | |
| 11 | g.47441906C>T | CA5976660 | RAPSN | c.706G>A (p.Ala236Thr) c.547G>A (p.Ala183Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441907G>A | CA5976661 | RAPSN | c.705C>T (p.Ile235=) c.546C>T (p.Ile182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.47441907G>C | CA380330495 | RAPSN | c.705C>G (p.Ile235Met) c.546C>G (p.Ile182Met) | |
| 11 | g.47441907G= | CA1969387725 | RAPSN | c.705C= (p.Ile235=) c.546C= (p.Ile182=) | |
| 11 | g.47441907G>T | CA474218478 | RAPSN | c.705C>A (p.Ile235=) c.546C>A (p.Ile182=) | gnomAD v4 |
| 11 | g.47441908A= | CA1969387726 | RAPSN | c.704T= (p.Ile235=) c.545T= (p.Ile182=) | |
| 11 | g.47441908A>C | CA380330500 | RAPSN | c.704T>G (p.Ile235Ser) c.545T>G (p.Ile182Ser) | |
| 11 | g.47441908A>G | CA380330505 | RAPSN | c.704T>C (p.Ile235Thr) c.545T>C (p.Ile182Thr) | dbSNP gnomAD v4 |
| 11 | g.47441908A>T | CA380330499 | RAPSN | c.704T>A (p.Ile235Asn) c.545T>A (p.Ile182Asn) | |
| 11 | g.47441909T>A | CA380330514 | RAPSN | c.703A>T (p.Ile235Phe) c.544A>T (p.Ile182Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441909T>C | CA380330511 | RAPSN | c.703A>G (p.Ile235Val) c.544A>G (p.Ile182Val) | gnomAD v4 |
| 11 | g.47441909T>G | CA380330518 | RAPSN | c.703A>C (p.Ile235Leu) c.544A>C (p.Ile182Leu) | |
| 11 | g.47441909T= | CA1969387727 | RAPSN | c.703A= (p.Ile235=) c.544A= (p.Ile182=) | |
| 11 | g.47441910C>A | CA380330521 | RAPSN | c.702G>T (p.Lys234Asn) c.543G>T (p.Lys181Asn) | gnomAD v4 |
| 11 | g.47441910C>G | CA380330523 | RAPSN | c.702G>C (p.Lys234Asn) c.543G>C (p.Lys181Asn) | gnomAD v4 |
| 11 | g.47441910C>T | CA474218481 | RAPSN | c.702G>A (p.Lys234=) c.543G>A (p.Lys181=) | gnomAD v4 |
| 11 | g.47441911T>A | CA380330526 | RAPSN | c.701A>T (p.Lys234Met) c.542A>T (p.Lys181Met) | |
| 11 | g.47441911T>C | CA380330529 | RAPSN | c.701A>G (p.Lys234Arg) c.542A>G (p.Lys181Arg) | gnomAD v4 |
| 11 | g.47441911T>G | CA380330532 | RAPSN | c.701A>C (p.Lys234Thr) c.542A>C (p.Lys181Thr) | |
| 11 | g.47441912T>A | CA380330539 | RAPSN | c.700A>T (p.Lys234Ter) c.541A>T (p.Lys181Ter) | gnomAD v4 |
| 11 | g.47441912T>C | CA380330543 | RAPSN | c.700A>G (p.Lys234Glu) c.541A>G (p.Lys181Glu) | gnomAD v4 |
| 11 | g.47441912T>G | CA380330547 | RAPSN | c.700A>C (p.Lys234Gln) c.541A>C (p.Lys181Gln) | |
| 11 | g.47441913C>A | CA380330558 | RAPSN | c.699G>T (p.Met233Ile) c.540G>T (p.Met180Ile) | gnomAD v4 |
| 11 | g.47441913C>G | CA380330556 | RAPSN | c.699G>C (p.Met233Ile) c.540G>C (p.Met180Ile) | gnomAD v4 |
| 11 | g.47441913C>T | CA380330551 | RAPSN | c.699G>A (p.Met233Ile) c.540G>A (p.Met180Ile) | gnomAD v4 |
| 11 | g.47441914A= | CA1969387728 | RAPSN | c.698T= (p.Met233=) c.539T= (p.Met180=) | |
| 11 | g.47441914A>C | CA380330560 | RAPSN | c.698T>G (p.Met233Arg) c.539T>G (p.Met180Arg) | |
| 11 | g.47441914A>G | CA221716853 | RAPSN | c.698T>C (p.Met233Thr) c.539T>C (p.Met180Thr) | dbSNP gnomAD v4 |
| 11 | g.47441914A>T | CA380330565 | RAPSN | c.698T>A (p.Met233Lys) c.539T>A (p.Met180Lys) | gnomAD v4 |
| 11 | g.47441915T>A | CA380330569 | RAPSN | c.697A>T (p.Met233Leu) c.538A>T (p.Met180Leu) | gnomAD v4 |
| 11 | g.47441915T>C | CA5976662 | RAPSN | c.697A>G (p.Met233Val) c.538A>G (p.Met180Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441915T>G | CA380330573 | RAPSN | c.697A>C (p.Met233Leu) c.538A>C (p.Met180Leu) | |
| 11 | g.47441915T= | CA1969387729 | RAPSN | c.697A= (p.Met233=) c.538A= (p.Met180=) | |
| 11 | g.47441916A>C | CA474218497 | RAPSN | c.696T>G (p.Ser232=) c.537T>G (p.Ser179=) | |
| 11 | g.47441916A>G | CA474218498 | RAPSN | c.696T>C (p.Ser232=) c.537T>C (p.Ser179=) | gnomAD v4 |
| 11 | g.47441916A>T | CA474218501 | RAPSN | c.696T>A (p.Ser232=) c.537T>A (p.Ser179=) | |
| 11 | g.47441917G>A | CA380330576 | RAPSN | c.695C>T (p.Ser232Phe) c.536C>T (p.Ser179Phe) | |
| 11 | g.47441917G>C | CA380330582 | RAPSN | c.695C>G (p.Ser232Cys) c.536C>G (p.Ser179Cys) | gnomAD v4 |
| 11 | g.47441917G>T | CA380330580 | RAPSN | c.695C>A (p.Ser232Tyr) c.536C>A (p.Ser179Tyr) | gnomAD v4 |
| 11 | g.47441918A>C | CA380330587 | RAPSN | c.694T>G (p.Ser232Ala) c.535T>G (p.Ser179Ala) | |
| 11 | g.47441918A>G | CA380330601 | RAPSN | c.694T>C (p.Ser232Pro) c.535T>C (p.Ser179Pro) | |
| 11 | g.47441918A>T | CA380330605 | RAPSN | c.694T>A (p.Ser232Thr) c.535T>A (p.Ser179Thr) | gnomAD v4 |
| 11 | g.47441919C>A | CA380330608 | RAPSN | c.693G>T (p.Glu231Asp) c.534G>T (p.Glu178Asp) | gnomAD v4 |
| 11 | g.47441919C= | CA1969387730 | RAPSN | c.693G= (p.Glu231=) c.534G= (p.Glu178=) | |
| 11 | g.47441919C>G | CA380330611 | RAPSN | c.693G>C (p.Glu231Asp) c.534G>C (p.Glu178Asp) | gnomAD v4 |
| 11 | g.47441919C>T | CA474218511 | RAPSN | c.693G>A (p.Glu231=) c.534G>A (p.Glu178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441920T>A | CA380330617 | RAPSN | c.692A>T (p.Glu231Val) c.533A>T (p.Glu178Val) | COSMIC |
| 11 | g.47441920T>C | CA380330623 | RAPSN | c.692A>G (p.Glu231Gly) c.533A>G (p.Glu178Gly) | |
| 11 | g.47441920T>G | CA380330626 | RAPSN | c.692A>C (p.Glu231Ala) c.533A>C (p.Glu178Ala) | |
| 11 | g.47441921C>A | CA380330629 | RAPSN | c.691G>T (p.Glu231Ter) c.532G>T (p.Glu178Ter) | gnomAD v4 |
| 11 | g.47441921C>G | CA380330630 | RAPSN | c.691G>C (p.Glu231Gln) c.532G>C (p.Glu178Gln) | |
| 11 | g.47441921C>T | CA380330631 | RAPSN | c.691G>A (p.Glu231Lys) c.532G>A (p.Glu178Lys) | gnomAD v3 gnomAD v4 |
| 11 | g.47441922C>A | CA380330632 | RAPSN | c.691-1G>T (n.691-1G>T) c.532-1G>T (n.532-1G>T) | dbSNP gnomAD v4 |
| 11 | g.47441922C= | CA1969387731 | RAPSN | c.691-1G= (n.691-1G=) c.532-1G= (n.532-1G=) | |
| 11 | g.47441922C>G | CA380330636 | RAPSN | c.691-1G>C (n.691-1G>C) c.532-1G>C (n.532-1G>C) | gnomAD v4 |
| 11 | g.47441922C>T | CA380330635 | RAPSN | c.691-1G>A (n.691-1G>A) c.532-1G>A (n.532-1G>A) | ClinVar |
| 11 | g.47441923T>A | CA380330639 | RAPSN | c.691-2A>T (n.691-2A>T) c.532-2A>T (n.532-2A>T) | gnomAD v4 |
| 11 | g.47441923T>C | CA380330640 | RAPSN | c.691-2A>G (n.691-2A>G) c.532-2A>G (n.532-2A>G) | gnomAD v4 |
| 11 | g.47441923T>G | CA380330642 | RAPSN | c.691-2A>C (n.691-2A>C) c.532-2A>C (n.532-2A>C) | |
| 11 | g.47441924G>A | CA2613404152 | RAPSN | c.691-3C>T (n.691-3C>T) c.532-3C>T (n.532-3C>T) | gnomAD v4 |
| 11 | g.47441924G= | CA1969387732 | RAPSN | c.691-3C= (n.691-3C=) c.532-3C= (n.532-3C=) | |
| 11 | g.47441924G>T | CA599374855 | RAPSN | c.691-3C>A (n.691-3C>A) c.532-3C>A (n.532-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441925_47441926del | CA2613404148 | RAPSN | c.691-4_691-3del (n.691-4_691-3del) c.532-4_532-3del (n.532-4_532-3del) | gnomAD v4 |
| 11 | g.47441924_47441950delinsGCGAGGGAGGCCAGTGGCTCAGGCCTA | CA1969387733 | RAPSN | c.691-29_691-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC (n.691-29_691-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC) c.532-29_532-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC (n.532-29_532-3delinsTAGGCCTGAGCCACTGGCCTCCCTCGC) | |
| 11 | g.47441925C>A | CA10638749 | RAPSN | c.691-4G>T (n.691-4G>T) c.532-4G>T (n.532-4G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441925C= | CA1969387734 | RAPSN | c.691-4G= (n.691-4G=) c.532-4G= (n.532-4G=) | |
| 11 | g.47441925C>G | CA2613404160 | RAPSN | c.691-4G>C (n.691-4G>C) c.532-4G>C (n.532-4G>C) | gnomAD v4 |
| 11 | g.47441925C>T | CA677010615 | RAPSN | c.691-4G>A (n.691-4G>A) c.532-4G>A (n.532-4G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441926_47441951del | CA937663907 | RAPSN | c.691-29_691-4del (n.691-29_691-4del) c.532-29_532-4del (n.532-29_532-4del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47441926G>A | CA599374856 | RAPSN | c.691-5C>T (n.691-5C>T) c.532-5C>T (n.532-5C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441926G= | CA1969387735 | RAPSN | c.691-5C= (n.691-5C=) c.532-5C= (n.532-5C=) | |
| 11 | g.47441926G>T | CA599374857 | RAPSN | c.691-5C>A (n.691-5C>A) c.532-5C>A (n.532-5C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441927A>G | CA2613404173 | RAPSN | c.691-6T>C (n.691-6T>C) c.532-6T>C (n.532-6T>C) | gnomAD v4 |
| 11 | g.47441927A>T | CA2613404179 | RAPSN | c.691-6T>A (n.691-6T>A) c.532-6T>A (n.532-6T>A) | gnomAD v4 |
| 11 | g.47441927_47441928delinsAG | CA1969387736 | RAPSN | c.691-7_691-6delinsCT (n.691-7_691-6delinsCT) c.532-7_532-6delinsCT (n.532-7_532-6delinsCT) | |
| 11 | g.47441928G>T | CA2573147335 | RAPSN | c.691-7C>A (n.691-7C>A) c.532-7C>A (n.532-7C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47441930del | CA5976663 | RAPSN | c.691-7del (n.691-7del) c.532-7del (n.532-7del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441929G>A | CA599374859 | RAPSN | c.691-8C>T (n.691-8C>T) c.532-8C>T (n.532-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441929G= | CA1969387737 | RAPSN | c.691-8C= (n.691-8C=) c.532-8C= (n.532-8C=) | |
| 11 | g.47441929G>T | CA2613404198 | RAPSN | c.691-8C>A (n.691-8C>A) c.532-8C>A (n.532-8C>A) | gnomAD v4 |
| 11 | g.47441930G>A | CA1969387740 | RAPSN | c.691-9C>T (n.691-9C>T) c.532-9C>T (n.532-9C>T) | dbSNP |
| 11 | g.47441930G>C | CA2613404204 | RAPSN | c.691-9C>G (n.691-9C>G) c.532-9C>G (n.532-9C>G) | gnomAD v4 |
| 11 | g.47441930G= | CA1969387739 | RAPSN | c.691-9C= (n.691-9C=) c.532-9C= (n.532-9C=) | |
| 11 | g.47441930G>T | CA2613404205 | RAPSN | c.691-9C>A (n.691-9C>A) c.532-9C>A (n.532-9C>A) | gnomAD v4 |
| 11 | g.47441930_47441931delinsGA | CA1969387738 | RAPSN | c.691-10_691-9delinsTC (n.691-10_691-9delinsTC) c.532-10_532-9delinsTC (n.532-10_532-9delinsTC) | |
| 11 | g.47441931del | CA599374860 | RAPSN | c.691-10del (n.691-10del) c.532-10del (n.532-10del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441931A= | CA2742038533 | RAPSN | c.691-10T= (n.691-10T=) c.532-10T= (n.532-10T=) | |
| 11 | g.47441931_47441932delinsAG | CA1969387742 | RAPSN | c.691-11_691-10delinsCT (n.691-11_691-10delinsCT) c.532-11_532-10delinsCT (n.532-11_532-10delinsCT) | |
| 11 | g.47441931_47441933delinsAGG | CA1969387741 | RAPSN | c.691-12_691-10delinsCCT (n.691-12_691-10delinsCCT) c.532-12_532-10delinsCCT (n.532-12_532-10delinsCCT) | |
| 11 | g.47441932G>A | CA5976664 | RAPSN | c.691-11C>T (n.691-11C>T) c.532-11C>T (n.532-11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47441932G= | CA1969387744 | RAPSN | c.691-11C= (n.691-11C=) c.532-11C= (n.532-11C=) | |
| 11 | g.47441932G>T | CA2613404218 | RAPSN | c.691-11C>A (n.691-11C>A) c.532-11C>A (n.532-11C>A) | gnomAD v4 |
| 11 | g.47441932_47441933del | CA1969387743 | RAPSN | c.691-12_691-11del (n.691-12_691-11del) c.532-12_532-11del (n.532-12_532-11del) | dbSNP |
| 11 | g.47441933dup | CA2723698812 | RAPSN | c.691-11dup (n.691-11dup) c.532-11dup (n.532-11dup) | dbSNP |
| 11 | g.47441933del | CA202775 | RAPSN | c.691-11del (n.691-11del) c.532-11del (n.532-11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441933G>A | CA2613404225 | RAPSN | c.691-12C>T (n.691-12C>T) c.532-12C>T (n.532-12C>T) | gnomAD v4 |
| 11 | g.47441933G>C | CA221716889 | RAPSN | c.691-12C>G (n.691-12C>G) c.532-12C>G (n.532-12C>G) | dbSNP gnomAD v2 |
| 11 | g.47441933G= | CA1969387745 | RAPSN | c.691-12C= (n.691-12C=) c.532-12C= (n.532-12C=) | |
| 11 | g.47441933G>T | CA2613404226 | RAPSN | c.691-12C>A (n.691-12C>A) c.532-12C>A (n.532-12C>A) | gnomAD v4 |
| 11 | g.47441934C>A | CA599374861 | RAPSN | c.691-13G>T (n.691-13G>T) c.532-13G>T (n.532-13G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441934C= | CA1969387746 | RAPSN | c.691-13G= (n.691-13G=) c.532-13G= (n.532-13G=) | |
| 11 | g.47441934C>T | CA1969387747 | RAPSN | c.691-13G>A (n.691-13G>A) c.532-13G>A (n.532-13G>A) | dbSNP gnomAD v4 |
| 11 | g.47441935C>A | CA654208815 | RAPSN | c.691-14G>T (n.691-14G>T) c.532-14G>T (n.532-14G>T) | gnomAD v4 COSMIC |
| 11 | g.47441935C>T | CA2613404241 | RAPSN | c.691-14G>A (n.691-14G>A) c.532-14G>A (n.532-14G>A) | gnomAD v4 |
| 11 | g.47441936A>G | CA2613404244 | RAPSN | c.691-15T>C (n.691-15T>C) c.532-15T>C (n.532-15T>C) | gnomAD v4 |
| 11 | g.47441936A>T | CA2613404245 | RAPSN | c.691-15T>A (n.691-15T>A) c.532-15T>A (n.532-15T>A) | gnomAD v4 |
| 11 | g.47441937G>A | CA599374862 | RAPSN | c.691-16C>T (n.691-16C>T) c.532-16C>T (n.532-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441937G>C | CA2574817153 | RAPSN | c.691-16C>G (n.691-16C>G) c.532-16C>G (n.532-16C>G) | ClinVar gnomAD v4 |
| 11 | g.47441937G= | CA1969387748 | RAPSN | c.691-16C= (n.691-16C=) c.532-16C= (n.532-16C=) | |
| 11 | g.47441937G>T | CA2613404247 | RAPSN | c.691-16C>A (n.691-16C>A) c.532-16C>A (n.532-16C>A) | gnomAD v4 |
| 11 | g.47441938T>A | CA2613404252 | RAPSN | c.691-17A>T (n.691-17A>T) c.532-17A>T (n.532-17A>T) | gnomAD v4 |
| 11 | g.47441939G>A | CA2613404255 | RAPSN | c.691-18C>T (n.691-18C>T) c.532-18C>T (n.532-18C>T) | gnomAD v4 |
| 11 | g.47441939G>T | CA2613404254 | RAPSN | c.691-18C>A (n.691-18C>A) c.532-18C>A (n.532-18C>A) | gnomAD v4 |
| 11 | g.47441940G>A | CA2613404258 | RAPSN | c.691-19C>T (n.691-19C>T) c.532-19C>T (n.532-19C>T) | gnomAD v4 |
| 11 | g.47441940G= | CA1969387749 | RAPSN | c.691-19C= (n.691-19C=) c.532-19C= (n.532-19C=) | |
| 11 | g.47441940G>T | CA599374863 | RAPSN | c.691-19C>A (n.691-19C>A) c.532-19C>A (n.532-19C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441941C>A | CA599374864 | RAPSN | c.691-20G>T (n.691-20G>T) c.532-20G>T (n.532-20G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441941C= | CA1969387750 | RAPSN | c.691-20G= (n.691-20G=) c.532-20G= (n.532-20G=) | |
| 11 | g.47441941C>T | CA2574817154 | RAPSN | c.691-20G>A (n.691-20G>A) c.532-20G>A (n.532-20G>A) | ClinVar gnomAD v4 |
| 11 | g.47441941_47441942insAGAGGAG | CA2613404266 | RAPSN | c.691-21_691-20insCTCCTCT (n.691-21_691-20insCTCCTCT) c.532-21_532-20insCTCCTCT (n.532-21_532-20insCTCCTCT) | gnomAD v4 |
| 11 | g.47441942T>C | CA2613404268 | RAPSN | c.691-21A>G (n.691-21A>G) c.532-21A>G (n.532-21A>G) | gnomAD v4 |
| 11 | g.47441942T>G | CA1969387752 | RAPSN | c.691-21A>C (n.691-21A>C) c.532-21A>C (n.532-21A>C) | dbSNP |
| 11 | g.47441942T= | CA1969387751 | RAPSN | c.691-21A= (n.691-21A=) c.532-21A= (n.532-21A=) | |
| 11 | g.47441943del | CA2613404273 | RAPSN | c.691-22del (n.691-22del) c.532-22del (n.532-22del) | gnomAD v4 |
| 11 | g.47441943C>A | CA2613404272 | RAPSN | c.691-22G>T (n.691-22G>T) c.532-22G>T (n.532-22G>T) | gnomAD v4 |
| 11 | g.47441943C>T | CA2613404271 | RAPSN | c.691-22G>A (n.691-22G>A) c.532-22G>A (n.532-22G>A) | gnomAD v4 |
| 11 | g.47441944A= | CA1969387753 | RAPSN | c.691-23T= (n.691-23T=) c.532-23T= (n.532-23T=) | |
| 11 | g.47441944A>C | CA1969387754 | RAPSN | c.691-23T>G (n.691-23T>G) c.532-23T>G (n.532-23T>G) | dbSNP |
| 11 | g.47441944A>G | CA2613404276 | RAPSN | c.691-23T>C (n.691-23T>C) c.532-23T>C (n.532-23T>C) | gnomAD v4 |
| 11 | g.47441945G>A | CA5976665 | RAPSN | c.691-24C>T (n.691-24C>T) c.532-24C>T (n.532-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47441945G>C | CA2613404279 | RAPSN | c.691-24C>G (n.691-24C>G) c.532-24C>G (n.532-24C>G) | gnomAD v4 |
| 11 | g.47441945G= | CA1969387755 | RAPSN | c.691-24C= (n.691-24C=) c.532-24C= (n.532-24C=) | |
| 11 | g.47441945G>T | CA2613404286 | RAPSN | c.691-24C>A (n.691-24C>A) c.532-24C>A (n.532-24C>A) | gnomAD v4 |
| 11 | g.47441946G>A | CA2613404289 | RAPSN | c.691-25C>T (n.691-25C>T) c.532-25C>T (n.532-25C>T) | gnomAD v4 |
| 11 | g.47441946G>T | CA2613404290 | RAPSN | c.691-25C>A (n.691-25C>A) c.532-25C>A (n.532-25C>A) | gnomAD v4 |
| 11 | g.47441947C>A | CA2613404319 | RAPSN | c.691-26G>T (n.691-26G>T) c.532-26G>T (n.532-26G>T) | gnomAD v4 |
| 11 | g.47441947C= | CA1969387756 | RAPSN | c.691-26G= (n.691-26G=) c.532-26G= (n.532-26G=) | |
| 11 | g.47441947C>T | CA599374865 | RAPSN | c.691-26G>A (n.691-26G>A) c.532-26G>A (n.532-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47441948del | CA2613404293 | RAPSN | c.691-26del (n.691-26del) c.532-26del (n.532-26del) | gnomAD v4 |
| 11 | g.47441948C>A | CA2613404323 | RAPSN | c.691-27G>T (n.691-27G>T) c.532-27G>T (n.532-27G>T) | gnomAD v4 |
| 11 | g.47441948C>T | CA2613404332 | RAPSN | c.691-27G>A (n.691-27G>A) c.532-27G>A (n.532-27G>A) | gnomAD v4 |
| 11 | g.47441950_47441957del | CA2613404322 | RAPSN | c.691-34_691-27del (n.691-34_691-27del) c.532-34_532-27del (n.532-34_532-27del) | gnomAD v4 |
| 11 | g.47441949T>C | CA2613404336 | RAPSN | c.691-28A>G (n.691-28A>G) c.532-28A>G (n.532-28A>G) | gnomAD v4 |
| 11 | g.47441949T>G | CA2613404337 | RAPSN | c.691-28A>C (n.691-28A>C) c.532-28A>C (n.532-28A>C) | gnomAD v4 |
| 11 | g.47441950A>G | CA2613404339 | RAPSN | c.691-29T>C (n.691-29T>C) c.532-29T>C (n.532-29T>C) | gnomAD v4 |
| 11 | g.47441950A>T | CA2613404355 | RAPSN | c.691-29T>A (n.691-29T>A) c.532-29T>A (n.532-29T>A) | gnomAD v4 |
| 11 | g.47441951C>A | CA2613404356 | RAPSN | c.691-30G>T (n.691-30G>T) c.532-30G>T (n.532-30G>T) | gnomAD v4 |
| 11 | g.47441951C>T | CA2613404358 | RAPSN | c.691-30G>A (n.691-30G>A) c.532-30G>A (n.532-30G>A) | gnomAD v4 |
| 11 | g.47441952T>A | CA2613404369 | RAPSN | c.691-31A>T (n.691-31A>T) c.532-31A>T (n.532-31A>T) | gnomAD v4 |
| 11 | g.47441953C>A | CA2613404373 | RAPSN | c.691-32G>T (n.691-32G>T) c.532-32G>T (n.532-32G>T) | gnomAD v4 |
| 11 | g.47441954C>A | CA2613404379 | RAPSN | c.691-33G>T (n.691-33G>T) c.532-33G>T (n.532-33G>T) | gnomAD v4 |
| 11 | g.47441954C= | CA1969387757 | RAPSN | c.691-33G= (n.691-33G=) c.532-33G= (n.532-33G=) | |
| 11 | g.47441954C>T | CA221716893 | RAPSN | c.691-33G>A (n.691-33G>A) c.532-33G>A (n.532-33G>A) | dbSNP gnomAD v4 |