| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.149926292_149926331del | CA2647757268 | SF3B4 | c.706+49_706+88del (n.706+49_706+88del) | gnomAD v4 |
| 1 | g.149926298del | CA2647757276 | SF3B4 | c.706+82del (n.706+82del) | gnomAD v4 |
| 1 | g.149926298C= | CA1142706839 | SF3B4 | c.706+78G= (n.706+78G=) | |
| 1 | g.149926298C>G | CA1007571888 | SF3B4 | c.706+78G>C (n.706+78G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149926298C>T | CA29990869 | SF3B4 | c.706+78G>A (n.706+78G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926298_149926299del | CA2647757282 | SF3B4 | c.706+77_706+78del (n.706+77_706+78del) | gnomAD v4 |
| 1 | g.149926299T>C | CA2647757283 | SF3B4 | c.706+77A>G (n.706+77A>G) | gnomAD v4 |
| 1 | g.149926301del | CA2573895104 | SF3B4 | c.706+77del (n.706+77del) | gnomAD v4 |
| 1 | g.149926300T>C | CA2647757284 | SF3B4 | c.706+76A>G (n.706+76A>G) | gnomAD v4 |
| 1 | g.149926301T>A | CA29990881 | SF3B4 | c.706+75A>T (n.706+75A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926301T= | CA2478942283 | SF3B4 | c.706+75A= (n.706+75A=) | |
| 1 | g.149926302C>G | CA2647757285 | SF3B4 | c.706+74G>C (n.706+74G>C) | gnomAD v4 |
| 1 | g.149926303A>G | CA2647757286 | SF3B4 | c.706+73T>C (n.706+73T>C) | gnomAD v4 |
| 1 | g.149926304G>A | CA2478942286 | SF3B4 | c.706+72C>T (n.706+72C>T) | dbSNP gnomAD v4 |
| 1 | g.149926304G= | CA2478942285 | SF3B4 | c.706+72C= (n.706+72C=) | |
| 1 | g.149926304G>T | CA2647757287 | SF3B4 | c.706+72C>A (n.706+72C>A) | gnomAD v4 |
| 1 | g.149926305A>T | CA2573895107 | SF3B4 | c.706+71T>A (n.706+71T>A) | |
| 1 | g.149926306C>A | CA2647757288 | SF3B4 | c.706+70G>T (n.706+70G>T) | gnomAD v4 |
| 1 | g.149926307T>C | CA2647757289 | SF3B4 | c.706+69A>G (n.706+69A>G) | gnomAD v4 |
| 1 | g.149926309_149926311del | CA2573895119 | SF3B4 | c.706+67_706+69del (n.706+67_706+69del) | |
| 1 | g.149926308T>C | CA2647757290 | SF3B4 | c.706+68A>G (n.706+68A>G) | gnomAD v4 |
| 1 | g.149926309G>C | CA2647757291 | SF3B4 | c.706+67C>G (n.706+67C>G) | gnomAD v4 |
| 1 | g.149926309G>T | CA2647757292 | SF3B4 | c.706+67C>A (n.706+67C>A) | gnomAD v4 |
| 1 | g.149926310T>C | CA2647757293 | SF3B4 | c.706+66A>G (n.706+66A>G) | gnomAD v4 |
| 1 | g.149926311T>C | CA913325574 | SF3B4 | c.706+65A>G (n.706+65A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926311T= | CA2478942288 | SF3B4 | c.706+65A= (n.706+65A=) | |
| 1 | g.149926311_149926314delinsTTTC | CA2478942287 | SF3B4 | c.706+62_706+65delinsGAAA (n.706+62_706+65delinsGAAA) | |
| 1 | g.149926311_149926312insA | CA2647757294 | SF3B4 | c.706+64_706+65insT (n.706+64_706+65insT) | gnomAD v4 |
| 1 | g.149926312T>C | CA2647757295 | SF3B4 | c.706+64A>G (n.706+64A>G) | gnomAD v4 |
| 1 | g.149926318_149926320del | CA889161730 | SF3B4 | c.706+62_706+64del (n.706+62_706+64del) | dbSNP |
| 1 | g.149926314C>A | CA2647757296 | SF3B4 | c.706+62G>T (n.706+62G>T) | gnomAD v4 |
| 1 | g.149926314C>G | CA2647757297 | SF3B4 | c.706+62G>C (n.706+62G>C) | gnomAD v4 |
| 1 | g.149926314C>T | CA2647757298 | SF3B4 | c.706+62G>A (n.706+62G>A) | gnomAD v4 |
| 1 | g.149926315T>G | CA29990884 | SF3B4 | c.706+61A>C (n.706+61A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149926315T= | CA2478942290 | SF3B4 | c.706+61A= (n.706+61A=) | |
| 1 | g.149926316del | CA2647757299 | SF3B4 | c.706+61del (n.706+61del) | gnomAD v4 |
| 1 | g.149926317C>A | CA889161734 | SF3B4 | c.706+59G>T (n.706+59G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149926317C= | CA2478942293 | SF3B4 | c.706+59G= (n.706+59G=) | |
| 1 | g.149926317C>G | CA2647757300 | SF3B4 | c.706+59G>C (n.706+59G>C) | gnomAD v4 |
| 1 | g.149926317C>T | CA2647757301 | SF3B4 | c.706+59G>A (n.706+59G>A) | gnomAD v4 |
| 1 | g.149926323_149926325del | CA2647757302 | SF3B4 | c.706+55_706+57del (n.706+55_706+57del) | gnomAD v4 |
| 1 | g.149926320C>A | CA2647757303 | SF3B4 | c.706+56G>T (n.706+56G>T) | gnomAD v4 |
| 1 | g.149926320C>T | CA2647757304 | SF3B4 | c.706+56G>A (n.706+56G>A) | gnomAD v4 |
| 1 | g.149926321C>A | CA2647757305 | SF3B4 | c.706+55G>T (n.706+55G>T) | gnomAD v4 |
| 1 | g.149926323C>T | CA2647757306 | SF3B4 | c.706+53G>A (n.706+53G>A) | gnomAD v4 |
| 1 | g.149926324C>A | CA2647757307 | SF3B4 | c.706+52G>T (n.706+52G>T) | gnomAD v4 |
| 1 | g.149926325T>C | CA2573895125 | SF3B4 | c.706+51A>G (n.706+51A>G) | |
| 1 | g.149926326G= | CA2478942295 | SF3B4 | c.706+50C= (n.706+50C=) | |
| 1 | g.149926326G>T | CA2478942296 | SF3B4 | c.706+50C>A (n.706+50C>A) | dbSNP gnomAD v4 |
| 1 | g.149926328C>A | CA2647757308 | SF3B4 | c.706+48G>T (n.706+48G>T) | gnomAD v4 |
| 1 | g.149926328C= | CA2478942297 | SF3B4 | c.706+48G= (n.706+48G=) | |
| 1 | g.149926328C>T | CA526259733 | SF3B4 | c.706+48G>A (n.706+48G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149926329C>A | CA2647757309 | SF3B4 | c.706+47G>T (n.706+47G>T) | gnomAD v4 |
| 1 | g.149926329C= | CA2478942299 | SF3B4 | c.706+47G= (n.706+47G=) | |
| 1 | g.149926329C>T | CA2478942300 | SF3B4 | c.706+47G>A (n.706+47G>A) | dbSNP |
| 1 | g.149926330C= | CA2478942302 | SF3B4 | c.706+46G= (n.706+46G=) | |
| 1 | g.149926330C>T | CA526259735 | SF3B4 | c.706+46G>A (n.706+46G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149926331T>C | CA2573895142 | SF3B4 | c.706+45A>G (n.706+45A>G) | gnomAD v4 |
| 1 | g.149926332C>A | CA2478942303 | SF3B4 | c.706+44G>T (n.706+44G>T) | dbSNP |
| 1 | g.149926332C= | CA2478942304 | SF3B4 | c.706+44G= (n.706+44G=) | |
| 1 | g.149926333T>C | CA2647757310 | SF3B4 | c.706+43A>G (n.706+43A>G) | gnomAD v4 |
| 1 | g.149926334C= | CA2478942305 | SF3B4 | c.706+42G= (n.706+42G=) | |
| 1 | g.149926334C>T | CA526259738 | SF3B4 | c.706+42G>A (n.706+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149926338del | CA2647757311 | SF3B4 | c.706+42del (n.706+42del) | gnomAD v4 |
| 1 | g.149926335C>T | CA2647757312 | SF3B4 | c.706+41G>A (n.706+41G>A) | gnomAD v4 |
| 1 | g.149926336C>A | CA1007571895 | SF3B4 | c.706+40G>T (n.706+40G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149926336C= | CA2478942307 | SF3B4 | c.706+40G= (n.706+40G=) | |
| 1 | g.149926337C>A | CA2573895145 | SF3B4 | c.706+39G>T (n.706+39G>T) | gnomAD v4 |
| 1 | g.149926337C= | CA2478942308 | SF3B4 | c.706+39G= (n.706+39G=) | |
| 1 | g.149926337C>G | CA29990890 | SF3B4 | c.706+39G>C (n.706+39G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.149926337C>T | CA2647757313 | SF3B4 | c.706+39G>A (n.706+39G>A) | gnomAD v4 |
| 1 | g.149926338C>A | CA2647757314 | SF3B4 | c.706+38G>T (n.706+38G>T) | gnomAD v4 |
| 1 | g.149926339A>G | CA2647757315 | SF3B4 | c.706+37T>C (n.706+37T>C) | gnomAD v4 |
| 1 | g.149926340A= | CA2478942310 | SF3B4 | c.706+36T= (n.706+36T=) | |
| 1 | g.149926340A>G | CA29990895 | SF3B4 | c.706+36T>C (n.706+36T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926341C>A | CA1071484 | SF3B4 | c.706+35G>T (n.706+35G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926341C= | CA2478942313 | SF3B4 | c.706+35G= (n.706+35G=) | |
| 1 | g.149926341C>T | CA526259742 | SF3B4 | c.706+35G>A (n.706+35G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926342_149926357del | CA2647757316 | SF3B4 | c.706+19_706+34del (n.706+19_706+34del) | gnomAD v4 |
| 1 | g.149926346A= | CA2478942315 | SF3B4 | c.706+30T= (n.706+30T=) | |
| 1 | g.149926346A>C | CA1071485 | SF3B4 | c.706+30T>G (n.706+30T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926347G>T | CA2647757317 | SF3B4 | c.706+29C>A (n.706+29C>A) | gnomAD v4 |
| 1 | g.149926349C>A | CA1071486 | SF3B4 | c.706+27G>T (n.706+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149926349C= | CA2478942319 | SF3B4 | c.706+27G= (n.706+27G=) | |
| 1 | g.149926349C>T | CA2478942317 | SF3B4 | c.706+27G>A (n.706+27G>A) | dbSNP gnomAD v4 |
| 1 | g.149926351A= | CA2478942321 | SF3B4 | c.706+25T= (n.706+25T=) | |
| 1 | g.149926351A>G | CA889161772 | SF3B4 | c.706+25T>C (n.706+25T>C) | dbSNP gnomAD v4 |
| 1 | g.149926353C= | CA2478942323 | SF3B4 | c.706+23G= (n.706+23G=) | |
| 1 | g.149926353C>T | CA1071487 | SF3B4 | c.706+23G>A (n.706+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.149926355T>A | CA2478942326 | SF3B4 | c.706+21A>T (n.706+21A>T) | dbSNP gnomAD v4 |
| 1 | g.149926355T= | CA2478942324 | SF3B4 | c.706+21A= (n.706+21A=) | |
| 1 | g.149926356del | CA2573895156 | SF3B4 | c.706+20del (n.706+20del) | |
| 1 | g.149926357T>C | CA1071488 | SF3B4 | c.706+19A>G (n.706+19A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926357T= | CA1148198777 | SF3B4 | c.706+19A= (n.706+19A=) | |
| 1 | g.149926359T>C | CA2647757318 | SF3B4 | c.706+17A>G (n.706+17A>G) | gnomAD v4 |
| 1 | g.149926361A>T | CA2573895159 | SF3B4 | c.706+15T>A (n.706+15T>A) | |
| 1 | g.149926363C= | CA2478942327 | SF3B4 | c.706+13G= (n.706+13G=) | |
| 1 | g.149926363C>T | CA526259749 | SF3B4 | c.706+13G>A (n.706+13G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149926364C= | CA2478942328 | SF3B4 | c.706+12G= (n.706+12G=) | |
| 1 | g.149926364C>G | CA2746057919 | SF3B4 | c.706+12G>C (n.706+12G>C) | |
| 1 | g.149926364C>T | CA2478942329 | SF3B4 | c.706+12G>A (n.706+12G>A) | dbSNP |
| 1 | g.149926365_149926368delinsAAAA | CA1140542720 | SF3B4 | c.706+8_706+11delinsTTTT (n.706+8_706+11delinsTTTT) | |
| 1 | g.149926368dup | CA29990925 | SF3B4 | c.706+11dup (n.706+11dup) | dbSNP |
| 1 | g.149926368del | CA2647757319 | SF3B4 | c.706+11del (n.706+11del) | gnomAD v4 |
| 1 | g.149926368A>G | CA1007571909 | SF3B4 | c.706+8T>C (n.706+8T>C) | gnomAD v3 gnomAD v4 |
| 1 | g.149926374A>C | CA342276250 | SF3B4 | c.706+2T>G (n.706+2T>G) | |
| 1 | g.149926374A>G | CA342276248 | SF3B4 | c.706+2T>C (n.706+2T>C) | |
| 1 | g.149926374A>T | CA342276249 | SF3B4 | c.706+2T>A (n.706+2T>A) | |
| 1 | g.149926375C>A | CA342276251 | SF3B4 | c.706+1G>T (n.706+1G>T) | ClinVar |
| 1 | g.149926375C>G | CA342276252 | SF3B4 | c.706+1G>C (n.706+1G>C) | |
| 1 | g.149926375C>T | CA342276253 | SF3B4 | c.706+1G>A (n.706+1G>A) | |
| 1 | g.149926376C>A | CA342276256 | SF3B4 | c.706G>T (p.Gly236Cys) | gnomAD v4 |
| 1 | g.149926376C= | CA2478942331 | SF3B4 | c.706G= (p.Gly236=) | |
| 1 | g.149926376C>G | CA342276255 | SF3B4 | c.706G>C (p.Gly236Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926376C>T | CA342276254 | SF3B4 | c.706G>A (p.Gly236Ser) | dbSNP |
| 1 | g.149926377T>A | CA420672370 | SF3B4 | c.705A>T (p.Pro235=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.149926377T>C | CA420672372 | SF3B4 | c.705A>G (p.Pro235=) | COSMIC |
| 1 | g.149926377T>G | CA420672374 | SF3B4 | c.705A>C (p.Pro235=) | |
| 1 | g.149926377T= | CA2478942334 | SF3B4 | c.705A= (p.Pro235=) | |
| 1 | g.149926378G>A | CA342276257 | SF3B4 | c.704C>T (p.Pro235Leu) | |
| 1 | g.149926378G>C | CA342276258 | SF3B4 | c.704C>G (p.Pro235Arg) | |
| 1 | g.149926378G>T | CA342276259 | SF3B4 | c.704C>A (p.Pro235Gln) | |
| 1 | g.149926379G>A | CA342276260 | SF3B4 | c.703C>T (p.Pro235Ser) | |
| 1 | g.149926379G>C | CA342276261 | SF3B4 | c.703C>G (p.Pro235Ala) | |
| 1 | g.149926379G>T | CA342276262 | SF3B4 | c.703C>A (p.Pro235Thr) | |
| 1 | g.149926380T>A | CA420672384 | SF3B4 | c.702A>T (p.Pro234=) | |
| 1 | g.149926380T>C | CA420672379 | SF3B4 | c.702A>G (p.Pro234=) | dbSNP gnomAD v4 |
| 1 | g.149926380T>G | CA420672381 | SF3B4 | c.702A>C (p.Pro234=) | gnomAD v4 |
| 1 | g.149926380T= | CA2478942336 | SF3B4 | c.702A= (p.Pro234=) | |
| 1 | g.149926381G>A | CA342276265 | SF3B4 | c.701C>T (p.Pro234Leu) | dbSNP |
| 1 | g.149926381G>C | CA342276263 | SF3B4 | c.701C>G (p.Pro234Arg) | |
| 1 | g.149926381G= | CA2478942339 | SF3B4 | c.701C= (p.Pro234=) | |
| 1 | g.149926381G>T | CA342276264 | SF3B4 | c.701C>A (p.Pro234Gln) | |
| 1 | g.149926382G>A | CA342276266 | SF3B4 | c.700C>T (p.Pro234Ser) c.571C>T | |
| 1 | g.149926382G>C | CA342276267 | SF3B4 | c.700C>G (p.Pro234Ala) c.571C>G | |
| 1 | g.149926382G>T | CA342276268 | SF3B4 | c.700C>A (p.Pro234Thr) c.571C>A | |
| 1 | g.149926383A>C | CA420672395 | SF3B4 | c.699T>G (p.Pro233=) c.570T>G (p.Pro190=) | |
| 1 | g.149926383A>G | CA420672396 | SF3B4 | c.699T>C (p.Pro233=) c.570T>C (p.Pro190=) | |
| 1 | g.149926383A>T | CA420672397 | SF3B4 | c.699T>A (p.Pro233=) c.570T>A (p.Pro190=) | |
| 1 | g.149926384G>A | CA342276269 | SF3B4 | c.698C>T (p.Pro233Leu) c.569C>T (p.Pro190Leu) | |
| 1 | g.149926384G>C | CA342276270 | SF3B4 | c.698C>G (p.Pro233Arg) c.569C>G (p.Pro190Arg) | |
| 1 | g.149926384G>T | CA342276271 | SF3B4 | c.698C>A (p.Pro233His) c.569C>A (p.Pro190His) | |
| 1 | g.149926385G>A | CA342276272 | SF3B4 | c.697C>T (p.Pro233Ser) c.568C>T (p.Pro190Ser) | dbSNP |
| 1 | g.149926385G>C | CA342276273 | SF3B4 | c.697C>G (p.Pro233Ala) c.568C>G (p.Pro190Ala) | |
| 1 | g.149926385G= | CA2478942340 | SF3B4 | c.697C= (p.Pro233=) c.568C= (p.Pro190=) | |
| 1 | g.149926385G>T | CA342276274 | SF3B4 | c.697C>A (p.Pro233Thr) c.568C>A (p.Pro190Thr) | |
| 1 | g.149926386A>C | CA420672407 | SF3B4 | c.696T>G (p.Leu232=) c.567T>G (p.Leu189=) | |
| 1 | g.149926386A>G | CA420672409 | SF3B4 | c.696T>C (p.Leu232=) c.567T>C (p.Leu189=) | |
| 1 | g.149926386A>T | CA420672411 | SF3B4 | c.696T>A (p.Leu232=) c.567T>A (p.Leu189=) | |
| 1 | g.149926387A>C | CA342276275 | SF3B4 | c.695T>G (p.Leu232Arg) c.566T>G (p.Leu189Arg) | |
| 1 | g.149926387A>G | CA342276276 | SF3B4 | c.695T>C (p.Leu232Pro) c.566T>C (p.Leu189Pro) | |
| 1 | g.149926387A>T | CA342276277 | SF3B4 | c.695T>A (p.Leu232His) c.566T>A (p.Leu189His) | |
| 1 | g.149926388G>A | CA342276278 | SF3B4 | c.694C>T (p.Leu232Phe) c.565C>T (p.Leu189Phe) | |
| 1 | g.149926388G>C | CA342276280 | SF3B4 | c.694C>G (p.Leu232Val) c.565C>G (p.Leu189Val) | |
| 1 | g.149926388G>T | CA342276279 | SF3B4 | c.694C>A (p.Leu232Ile) c.565C>A (p.Leu189Ile) | |
| 1 | g.149926389C>A | CA420672421 | SF3B4 | c.693G>T (p.Gly231=) c.564G>T (p.Gly188=) | |
| 1 | g.149926389C= | CA2478942342 | SF3B4 | c.693G= (p.Gly231=) c.564G= (p.Gly188=) | |
| 1 | g.149926389C>G | CA420672422 | SF3B4 | c.693G>C (p.Gly231=) c.564G>C (p.Gly188=) | |
| 1 | g.149926389C>T | CA1071489 | SF3B4 | c.693G>A (p.Gly231=) c.564G>A (p.Gly188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.149926390C>A | CA342276281 | SF3B4 | c.692G>T (p.Gly231Val) c.563G>T (p.Gly188Val) | gnomAD v4 COSMIC |
| 1 | g.149926390C>G | CA342276282 | SF3B4 | c.692G>C (p.Gly231Ala) c.563G>C (p.Gly188Ala) | gnomAD v4 |
| 1 | g.149926390C>T | CA342276283 | SF3B4 | c.692G>A (p.Gly231Glu) c.563G>A (p.Gly188Glu) | |
| 1 | g.149926391C>A | CA342276284 | SF3B4 | c.691G>T (p.Gly231Trp) c.562G>T (p.Gly188Trp) | |
| 1 | g.149926391C>G | CA342276285 | SF3B4 | c.691G>C (p.Gly231Arg) c.562G>C (p.Gly188Arg) | gnomAD v4 |
| 1 | g.149926391C>T | CA342276286 | SF3B4 | c.691G>A (p.Gly231Arg) c.562G>A (p.Gly188Arg) | |
| 1 | g.149926392A>C | CA420672426 | SF3B4 | c.690T>G (p.Ser230=) c.561T>G (p.Ser187=) | |
| 1 | g.149926392A>G | CA420672427 | SF3B4 | c.690T>C (p.Ser230=) c.561T>C (p.Ser187=) | |
| 1 | g.149926392A>T | CA420672428 | SF3B4 | c.690T>A (p.Ser230=) c.561T>A (p.Ser187=) | |
| 1 | g.149926393G>A | CA29990962 | SF3B4 | c.689C>T (p.Ser230Phe) c.560C>T (p.Ser187Phe) | dbSNP |
| 1 | g.149926393G>C | CA342276287 | SF3B4 | c.689C>G (p.Ser230Cys) c.560C>G (p.Ser187Cys) | gnomAD v4 |
| 1 | g.149926393G= | CA2478942344 | SF3B4 | c.689C= (p.Ser230=) c.560C= (p.Ser187=) | |
| 1 | g.149926393G>T | CA342276288 | SF3B4 | c.689C>A (p.Ser230Tyr) c.560C>A (p.Ser187Tyr) | |
| 1 | g.149926394A= | CA2478942345 | SF3B4 | c.688T= (p.Ser230=) c.559T= (p.Ser187=) | |
| 1 | g.149926394A>C | CA342276289 | SF3B4 | c.688T>G (p.Ser230Ala) c.559T>G (p.Ser187Ala) | |
| 1 | g.149926394A>G | CA342276290 | SF3B4 | c.688T>C (p.Ser230Pro) c.559T>C (p.Ser187Pro) | |
| 1 | g.149926394A>T | CA342276291 | SF3B4 | c.688T>A (p.Ser230Thr) c.559T>A (p.Ser187Thr) | dbSNP |
| 1 | g.149926395C>A | CA420672432 | SF3B4 | c.687G>T (p.Gly229=) c.558G>T (p.Gly186=) | gnomAD v4 |
| 1 | g.149926395C>G | CA420672429 | SF3B4 | c.687G>C (p.Gly229=) c.558G>C (p.Gly186=) | |
| 1 | g.149926395C>T | CA420672431 | SF3B4 | c.687G>A (p.Gly229=) c.558G>A (p.Gly186=) | |
| 1 | g.149926396C>A | CA342276292 | SF3B4 | c.686G>T (p.Gly229Val) c.557G>T (p.Gly186Val) | |
| 1 | g.149926396C>G | CA342276294 | SF3B4 | c.686G>C (p.Gly229Ala) c.557G>C (p.Gly186Ala) | |
| 1 | g.149926396C>T | CA342276293 | SF3B4 | c.686G>A (p.Gly229Glu) c.557G>A (p.Gly186Glu) | |
| 1 | g.149926397C>A | CA342276295 | SF3B4 | c.685G>T (p.Gly229Trp) c.556G>T (p.Gly186Trp) | |
| 1 | g.149926397C>G | CA342276296 | SF3B4 | c.685G>C (p.Gly229Arg) c.556G>C (p.Gly186Arg) | |
| 1 | g.149926397C>T | CA342276297 | SF3B4 | c.685G>A (p.Gly229Arg) c.556G>A (p.Gly186Arg) | |
| 1 | g.149926398C>A | CA342276298 | SF3B4 | c.684G>T (p.Leu228Phe) c.555G>T (p.Leu185Phe) | |
| 1 | g.149926398C>G | CA342276299 | SF3B4 | c.684G>C (p.Leu228Phe) c.555G>C (p.Leu185Phe) | |
| 1 | g.149926398C>T | CA420672434 | SF3B4 | c.684G>A (p.Leu228=) c.555G>A (p.Leu185=) |