Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.169555302G>A | CA343132082 | F5 | c.998C>T (p.Thr333Ile) c.587C>T (p.Thr196Ile) | gnomAD v4 |
1 | g.169555302G>C | CA343132083 | F5 | c.998C>G (p.Thr333Ser) c.587C>G (p.Thr196Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555302G= | CA1206149356 | F5 | c.998C= (p.Thr333=) c.587C= (p.Thr196=) | |
1 | g.169555302G>T | CA343132086 | F5 | c.998C>A (p.Thr333Asn) c.587C>A (p.Thr196Asn) | |
1 | g.169555303T>A | CA343132105 | F5 | c.997A>T (p.Thr333Ser) c.586A>T (p.Thr196Ser) | |
1 | g.169555303T>C | CA343132108 | F5 | c.997A>G (p.Thr333Ala) c.586A>G (p.Thr196Ala) | |
1 | g.169555303T>G | CA343132110 | F5 | c.997A>C (p.Thr333Pro) c.586A>C (p.Thr196Pro) | |
1 | g.169555306dup | CA2649036468 | F5 | c.997dup (p.Thr333AsnfsTer5) c.586dup (p.Thr196AsnfsTer5) | gnomAD v4 |
1 | g.169555304T>A | CA343132125 | F5 | c.996A>T (p.Lys332Asn) c.585A>T (p.Lys195Asn) | |
1 | g.169555304T>C | CA421733987 | F5 | c.996A>G (p.Lys332=) c.585A>G (p.Lys195=) | gnomAD v4 |
1 | g.169555304T>G | CA1234456 | F5 | c.996A>C (p.Lys332Asn) c.585A>C (p.Lys195Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555304T= | CA1141934523 | F5 | c.996A= (p.Lys332=) c.585A= (p.Lys195=) | |
1 | g.169555305T>A | CA343132130 | F5 | c.995A>T (p.Lys332Ile) c.584A>T (p.Lys195Ile) | |
1 | g.169555305T>C | CA343132140 | F5 | c.995A>G (p.Lys332Arg) c.584A>G (p.Lys195Arg) | |
1 | g.169555305T>G | CA343132137 | F5 | c.995A>C (p.Lys332Thr) c.584A>C (p.Lys195Thr) | |
1 | g.169555306T>A | CA343132144 | F5 | c.994A>T (p.Lys332Ter) c.583A>T (p.Lys195Ter) | |
1 | g.169555306T>C | CA343132149 | F5 | c.994A>G (p.Lys332Glu) c.583A>G (p.Lys195Glu) | dbSNP |
1 | g.169555306T>G | CA343132152 | F5 | c.994A>C (p.Lys332Gln) c.583A>C (p.Lys195Gln) | |
1 | g.169555306T= | CA1206149364 | F5 | c.994A= (p.Lys332=) c.583A= (p.Lys195=) | |
1 | g.169555307C>A | CA343132155 | F5 | c.993G>T (p.Lys331Asn) c.582G>T (p.Lys194Asn) | |
1 | g.169555307C= | CA1206149368 | F5 | c.993G= (p.Lys331=) c.582G= (p.Lys194=) | |
1 | g.169555307C>G | CA343132157 | F5 | c.993G>C (p.Lys331Asn) c.582G>C (p.Lys194Asn) | |
1 | g.169555307C>T | CA421733988 | F5 | c.993G>A (p.Lys331=) c.582G>A (p.Lys194=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555308T>A | CA343132161 | F5 | c.992A>T (p.Lys331Met) c.581A>T (p.Lys194Met) | |
1 | g.169555308T>C | CA343132166 | F5 | c.992A>G (p.Lys331Arg) c.581A>G (p.Lys194Arg) | |
1 | g.169555308T>G | CA343132169 | F5 | c.992A>C (p.Lys331Thr) c.581A>C (p.Lys194Thr) | |
1 | g.169555309T>A | CA343132175 | F5 | c.991A>T (p.Lys331Ter) c.580A>T (p.Lys194Ter) | |
1 | g.169555309T>C | CA343132177 | F5 | c.991A>G (p.Lys331Glu) c.580A>G (p.Lys194Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.169555309T>G | CA343132179 | F5 | c.991A>C (p.Lys331Gln) c.580A>C (p.Lys194Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555309T= | CA1206149371 | F5 | c.991A= (p.Lys331=) c.580A= (p.Lys194=) | |
1 | g.169555310T>A | CA421733989 | F5 | c.990A>T (p.Pro330=) c.579A>T (p.Pro193=) | |
1 | g.169555310T>C | CA421733990 | F5 | c.990A>G (p.Pro330=) c.579A>G (p.Pro193=) | |
1 | g.169555310T>G | CA421733992 | F5 | c.990A>C (p.Pro330=) c.579A>C (p.Pro193=) | |
1 | g.169555311G>A | CA343132194 | F5 | c.989C>T (p.Pro330Leu) c.578C>T (p.Pro193Leu) | |
1 | g.169555311G>C | CA343132189 | F5 | c.989C>G (p.Pro330Arg) c.578C>G (p.Pro193Arg) | |
1 | g.169555311G= | CA1206149374 | F5 | c.989C= (p.Pro330=) c.578C= (p.Pro193=) | |
1 | g.169555311G>T | CA343132186 | F5 | c.989C>A (p.Pro330Gln) c.578C>A (p.Pro193Gln) | dbSNP |
1 | g.169555312G>A | CA343132198 | F5 | c.988C>T (p.Pro330Ser) c.577C>T (p.Pro193Ser) | |
1 | g.169555312G>C | CA343132211 | F5 | c.988C>G (p.Pro330Ala) c.577C>G (p.Pro193Ala) | dbSNP |
1 | g.169555312G= | CA1206149376 | F5 | c.988C= (p.Pro330=) c.577C= (p.Pro193=) | |
1 | g.169555312G>T | CA343132223 | F5 | c.988C>A (p.Pro330Thr) c.577C>A (p.Pro193Thr) | |
1 | g.169555313G>A | CA421733993 | F5 | c.987C>T (p.Cys329=) c.576C>T (p.Cys192=) | gnomAD v4 |
1 | g.169555313G>C | CA343132224 | F5 | c.987C>G (p.Cys329Trp) c.576C>G (p.Cys192Trp) | |
1 | g.169555313G>T | CA343132226 | F5 | c.987C>A (p.Cys329Ter) c.576C>A (p.Cys192Ter) | ClinVar |
1 | g.169555314C>A | CA1234457 | F5 | c.986G>T (p.Cys329Phe) c.575G>T (p.Cys192Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555314C= | CA1147832150 | F5 | c.986G= (p.Cys329=) c.575G= (p.Cys192=) | |
1 | g.169555314C>G | CA343132234 | F5 | c.986G>C (p.Cys329Ser) c.575G>C (p.Cys192Ser) | |
1 | g.169555314C>T | CA1234458 | F5 | c.986G>A (p.Cys329Tyr) c.575G>A (p.Cys192Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555315A>C | CA343132248 | F5 | c.985T>G (p.Cys329Gly) c.574T>G (p.Cys192Gly) | |
1 | g.169555315A>G | CA343132252 | F5 | c.985T>C (p.Cys329Arg) c.574T>C (p.Cys192Arg) | |
1 | g.169555315A>T | CA343132262 | F5 | c.985T>A (p.Cys329Ser) c.574T>A (p.Cys192Ser) | |
1 | g.169555316G>A | CA421733995 | F5 | c.984C>T (p.Asn328=) c.573C>T (p.Asn191=) | gnomAD v4 |
1 | g.169555316G>C | CA343132265 | F5 | c.984C>G (p.Asn328Lys) c.573C>G (p.Asn191Lys) | |
1 | g.169555316G>T | CA343132268 | F5 | c.984C>A (p.Asn328Lys) c.573C>A (p.Asn191Lys) | |
1 | g.169555317T>A | CA343132270 | F5 | c.983A>T (p.Asn328Ile) c.572A>T (p.Asn191Ile) | |
1 | g.169555317T>C | CA343132276 | F5 | c.983A>G (p.Asn328Ser) c.572A>G (p.Asn191Ser) | |
1 | g.169555317T>G | CA343132273 | F5 | c.983A>C (p.Asn328Thr) c.572A>C (p.Asn191Thr) | |
1 | g.169555318T>A | CA343132279 | F5 | c.982A>T (p.Asn328Tyr) c.571A>T (p.Asn191Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555318T>C | CA343132289 | F5 | c.982A>G (p.Asn328Asp) c.571A>G (p.Asn191Asp) | |
1 | g.169555318T>G | CA343132285 | F5 | c.982A>C (p.Asn328His) c.571A>C (p.Asn191His) | gnomAD v4 |
1 | g.169555318T= | CA1206149382 | F5 | c.982A= (p.Asn328=) c.571A= (p.Asn191=) | |
1 | g.169555319T>A | CA343132292 | F5 | c.981A>T (p.Lys327Asn) c.570A>T (p.Lys190Asn) | |
1 | g.169555319T>C | CA421733999 | F5 | c.981A>G (p.Lys327=) c.570A>G (p.Lys190=) | |
1 | g.169555319T>G | CA343132293 | F5 | c.981A>C (p.Lys327Asn) c.570A>C (p.Lys190Asn) | |
1 | g.169555320T>A | CA343132295 | F5 | c.980A>T (p.Lys327Ile) c.569A>T (p.Lys190Ile) | |
1 | g.169555320T>C | CA343132299 | F5 | c.980A>G (p.Lys327Arg) c.569A>G (p.Lys190Arg) | |
1 | g.169555320T>G | CA1234459 | F5 | c.980A>C (p.Lys327Thr) c.569A>C (p.Lys190Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555320T= | CA1206149385 | F5 | c.980A= (p.Lys327=) c.569A= (p.Lys190=) | |
1 | g.169555321T>A | CA343132302 | F5 | c.979A>T (p.Lys327Ter) c.568A>T (p.Lys190Ter) | |
1 | g.169555321T>C | CA343132312 | F5 | c.979A>G (p.Lys327Glu) c.568A>G (p.Lys190Glu) | gnomAD v4 |
1 | g.169555321T>G | CA343132304 | F5 | c.979A>C (p.Lys327Gln) c.568A>C (p.Lys190Gln) | |
1 | g.169555321T= | CA1206149388 | F5 | c.979A= (p.Lys327=) c.568A= (p.Lys190=) | |
1 | g.169555322A>C | CA343132315 | F5 | c.978T>G (p.Ile326Met) c.567T>G (p.Ile189Met) | |
1 | g.169555322A>G | CA421734001 | F5 | c.978T>C (p.Ile326=) c.567T>C (p.Ile189=) | |
1 | g.169555322A>T | CA421734002 | F5 | c.978T>A (p.Ile326=) c.567T>A (p.Ile189=) | |
1 | g.169555323dup | CA1206149390 | F5 | c.978dup (p.Lys327Ter) c.567dup (p.Lys190Ter) | dbSNP |
1 | g.169555323A>C | CA343132320 | F5 | c.977T>G (p.Ile326Ser) c.566T>G (p.Ile189Ser) | |
1 | g.169555323A>G | CA343132324 | F5 | c.977T>C (p.Ile326Thr) c.566T>C (p.Ile189Thr) | |
1 | g.169555323A>T | CA343132333 | F5 | c.977T>A (p.Ile326Asn) c.566T>A (p.Ile189Asn) | |
1 | g.169555324T>A | CA343132339 | F5 | c.976A>T (p.Ile326Phe) c.565A>T (p.Ile189Phe) | |
1 | g.169555324T>C | CA343132341 | F5 | c.976A>G (p.Ile326Val) c.565A>G (p.Ile189Val) | gnomAD v4 |
1 | g.169555324T>G | CA343132343 | F5 | c.976A>C (p.Ile326Leu) c.565A>C (p.Ile189Leu) | gnomAD v4 |
1 | g.169555325G>A | CA421734004 | F5 | c.975C>T (p.Asp325=) c.564C>T (p.Asp188=) | |
1 | g.169555325G>C | CA343132347 | F5 | c.975C>G (p.Asp325Glu) c.564C>G (p.Asp188Glu) | |
1 | g.169555325G= | CA1206149394 | F5 | c.975C= (p.Asp325=) c.564C= (p.Asp188=) | |
1 | g.169555325G>T | CA343132351 | F5 | c.975C>A (p.Asp325Glu) c.564C>A (p.Asp188Glu) | dbSNP gnomAD v4 |
1 | g.169555326T>A | CA1234460 | F5 | c.974A>T (p.Asp325Val) c.563A>T (p.Asp188Val) | dbSNP ExAC gnomAD v2 |
1 | g.169555326T>C | CA343132364 | F5 | c.974A>G (p.Asp325Gly) c.563A>G (p.Asp188Gly) | dbSNP |
1 | g.169555326T>G | CA343132374 | F5 | c.974A>C (p.Asp325Ala) c.563A>C (p.Asp188Ala) | dbSNP |
1 | g.169555326T= | CA1206149399 | F5 | c.974A= (p.Asp325=) c.563A= (p.Asp188=) | |
1 | g.169555327C>A | CA343132378 | F5 | c.973G>T (p.Asp325Tyr) c.562G>T (p.Asp188Tyr) | |
1 | g.169555327C>G | CA343132381 | F5 | c.973G>C (p.Asp325His) c.562G>C (p.Asp188His) | |
1 | g.169555327C>T | CA343132379 | F5 | c.973G>A (p.Asp325Asn) c.562G>A (p.Asp188Asn) | |
1 | g.169555328A>C | CA343132383 | F5 | c.972T>G (p.Ile324Met) c.561T>G (p.Ile187Met) | |
1 | g.169555328A>G | CA421734007 | F5 | c.972T>C (p.Ile324=) c.561T>C (p.Ile187=) | |
1 | g.169555328A>T | CA421734008 | F5 | c.972T>A (p.Ile324=) c.561T>A (p.Ile187=) | |
1 | g.169555329A= | CA1141816304 | F5 | c.971T= (p.Ile324=) c.560T= (p.Ile187=) | |
1 | g.169555329A>C | CA343132388 | F5 | c.971T>G (p.Ile324Ser) c.560T>G (p.Ile187Ser) | |
1 | g.169555329A>G | CA32390668 | F5 | c.971T>C (p.Ile324Thr) c.560T>C (p.Ile187Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555329A>T | CA343132407 | F5 | c.971T>A (p.Ile324Asn) c.560T>A (p.Ile187Asn) | |
1 | g.169555330del | CA645528100 | F5 | c.970del (p.Ile324LeufsTer16) c.559del (p.Ile187LeufsTer16) | COSMIC |
1 | g.169555330T>A | CA343132412 | F5 | c.970A>T (p.Ile324Phe) c.559A>T (p.Ile187Phe) | |
1 | g.169555330T>C | CA1234461 | F5 | c.970A>G (p.Ile324Val) c.559A>G (p.Ile187Val) | dbSNP ExAC gnomAD v2 |
1 | g.169555330T>G | CA343132445 | F5 | c.970A>C (p.Ile324Leu) c.559A>C (p.Ile187Leu) | |
1 | g.169555330T= | CA1142085428 | F5 | c.970A= (p.Ile324=) c.559A= (p.Ile187=) | |
1 | g.169555331G>A | CA421734010 | F5 | c.969C>T (p.Tyr323=) c.558C>T (p.Tyr186=) | |
1 | g.169555331G>C | CA343132453 | F5 | c.969C>G (p.Tyr323Ter) c.558C>G (p.Tyr186Ter) | |
1 | g.169555331G>T | CA343132457 | F5 | c.969C>A (p.Tyr323Ter) c.558C>A (p.Tyr186Ter) | gnomAD v4 |
1 | g.169555332T>A | CA343132470 | F5 | c.968A>T (p.Tyr323Phe) c.557A>T (p.Tyr186Phe) | |
1 | g.169555332T>C | CA343132468 | F5 | c.968A>G (p.Tyr323Cys) c.557A>G (p.Tyr186Cys) | |
1 | g.169555332T>G | CA343132467 | F5 | c.968A>C (p.Tyr323Ser) c.557A>C (p.Tyr186Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555332T= | CA1206149405 | F5 | c.968A= (p.Tyr323=) c.557A= (p.Tyr186=) | |
1 | g.169555333A>C | CA343132478 | F5 | c.967T>G (p.Tyr323Asp) c.556T>G (p.Tyr186Asp) | |
1 | g.169555333A>G | CA343132481 | F5 | c.967T>C (p.Tyr323His) c.556T>C (p.Tyr186His) | |
1 | g.169555333A>T | CA343132483 | F5 | c.967T>A (p.Tyr323Asn) c.556T>A (p.Tyr186Asn) | |
1 | g.169555333_169555335del | CA2573946209 | F5 | c.965_967del (p.Ala322_Tyr323delinsAsp) c.554_556del (p.Ala185_Tyr186delinsAsp) | |
1 | g.169555334A= | CA1206149409 | F5 | c.966T= (p.Ala322=) c.555T= (p.Ala185=) | |
1 | g.169555334A>C | CA421734022 | F5 | c.966T>G (p.Ala322=) c.555T>G (p.Ala185=) | |
1 | g.169555334A>G | CA421734021 | F5 | c.966T>C (p.Ala322=) c.555T>C (p.Ala185=) | |
1 | g.169555334A>T | CA421734019 | F5 | c.966T>A (p.Ala322=) c.555T>A (p.Ala185=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555335G>A | CA343132495 | F5 | c.965C>T (p.Ala322Val) c.554C>T (p.Ala185Val) | |
1 | g.169555335G>C | CA343132497 | F5 | c.965C>G (p.Ala322Gly) c.554C>G (p.Ala185Gly) | |
1 | g.169555335G>T | CA343132502 | F5 | c.965C>A (p.Ala322Asp) c.554C>A (p.Ala185Asp) | |
1 | g.169555336C>A | CA343132505 | F5 | c.964G>T (p.Ala322Ser) c.553G>T (p.Ala185Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.169555336C= | CA1206149413 | F5 | c.964G= (p.Ala322=) c.553G= (p.Ala185=) | |
1 | g.169555336C>G | CA343132508 | F5 | c.964G>C (p.Ala322Pro) c.553G>C (p.Ala185Pro) | |
1 | g.169555336C>T | CA343132510 | F5 | c.964G>A (p.Ala322Thr) c.553G>A (p.Ala185Thr) | |
1 | g.169555337C>A | CA343132513 | F5 | c.963G>T (p.Gln321His) c.552G>T (p.Gln184His) | |
1 | g.169555337C>G | CA343132516 | F5 | c.963G>C (p.Gln321His) c.552G>C (p.Gln184His) | |
1 | g.169555337C>T | CA421734034 | F5 | c.963G>A (p.Gln321=) c.552G>A (p.Gln184=) | gnomAD v4 |
1 | g.169555338T>A | CA343132523 | F5 | c.962A>T (p.Gln321Leu) c.551A>T (p.Gln184Leu) | |
1 | g.169555338T>C | CA1234462 | F5 | c.962A>G (p.Gln321Arg) c.551A>G (p.Gln184Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555338T>G | CA343132517 | F5 | c.962A>C (p.Gln321Pro) c.551A>C (p.Gln184Pro) | |
1 | g.169555338T= | CA1143957523 | F5 | c.962A= (p.Gln321=) c.551A= (p.Gln184=) | |
1 | g.169555339G>A | CA343132560 | F5 | c.961C>T (p.Gln321Ter) c.550C>T (p.Gln184Ter) | |
1 | g.169555339G>C | CA343132564 | F5 | c.961C>G (p.Gln321Glu) c.550C>G (p.Gln184Glu) | |
1 | g.169555339G>T | CA343132567 | F5 | c.961C>A (p.Gln321Lys) c.550C>A (p.Gln184Lys) | gnomAD v4 |
1 | g.169555340C>A | CA343132568 | F5 | c.960G>T (p.Met320Ile) c.549G>T (p.Met183Ile) | COSMIC |
1 | g.169555340C>G | CA343132576 | F5 | c.960G>C (p.Met320Ile) c.549G>C (p.Met183Ile) | |
1 | g.169555340C>T | CA343132602 | F5 | c.960G>A (p.Met320Ile) c.549G>A (p.Met183Ile) | COSMIC |
1 | g.169555341A>C | CA343132607 | F5 | c.959T>G (p.Met320Arg) c.548T>G (p.Met183Arg) | |
1 | g.169555341A>G | CA343132631 | F5 | c.959T>C (p.Met320Thr) c.548T>C (p.Met183Thr) | |
1 | g.169555341A>T | CA343132634 | F5 | c.959T>A (p.Met320Lys) c.548T>A (p.Met183Lys) | |
1 | g.169555342T>A | CA343132635 | F5 | c.958A>T (p.Met320Leu) c.547A>T (p.Met183Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555342T>C | CA343132637 | F5 | c.958A>G (p.Met320Val) c.547A>G (p.Met183Val) | |
1 | g.169555342T>G | CA343132640 | F5 | c.958A>C (p.Met320Leu) c.547A>C (p.Met183Leu) | |
1 | g.169555342T= | CA1206149419 | F5 | c.958A= (p.Met320=) c.547A= (p.Met183=) | |
1 | g.169555343C>A | CA421734046 | F5 | c.957G>T (p.Gly319=) c.546G>T (p.Gly182=) | dbSNP gnomAD v2 |
1 | g.169555343C= | CA1206149420 | F5 | c.957G= (p.Gly319=) c.546G= (p.Gly182=) | |
1 | g.169555343C>G | CA32390669 | F5 | c.957G>C (p.Gly319=) c.546G>C (p.Gly182=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555343C>T | CA421734047 | F5 | c.957G>A (p.Gly319=) c.546G>A (p.Gly182=) | gnomAD v4 |
1 | g.169555344C>A | CA343132642 | F5 | c.956G>T (p.Gly319Val) c.545G>T (p.Gly182Val) | |
1 | g.169555344C>G | CA343132644 | F5 | c.956G>C (p.Gly319Ala) c.545G>C (p.Gly182Ala) | |
1 | g.169555344C>T | CA343132641 | F5 | c.956G>A (p.Gly319Glu) c.545G>A (p.Gly182Glu) | |
1 | g.169555345C>A | CA343132653 | F5 | c.955G>T (p.Gly319Trp) c.544G>T (p.Gly182Trp) | |
1 | g.169555345C= | CA1206149422 | F5 | c.955G= (p.Gly319=) c.544G= (p.Gly182=) | |
1 | g.169555345C>G | CA343132646 | F5 | c.955G>C (p.Gly319Arg) c.544G>C (p.Gly182Arg) | |
1 | g.169555345C>T | CA32390670 | F5 | c.955G>A (p.Gly319Arg) c.544G>A (p.Gly182Arg) | dbSNP gnomAD v4 |
1 | g.169555346A>C | CA421734057 | F5 | c.954T>G (p.Ala318=) c.543T>G (p.Ala181=) | |
1 | g.169555346A>G | CA421734059 | F5 | c.954T>C (p.Ala318=) c.543T>C (p.Ala181=) | |
1 | g.169555346A>T | CA421734061 | F5 | c.954T>A (p.Ala318=) c.543T>A (p.Ala181=) | |
1 | g.169555347G>A | CA343132657 | F5 | c.953C>T (p.Ala318Val) c.542C>T (p.Ala181Val) | |
1 | g.169555347G>C | CA343132660 | F5 | c.953C>G (p.Ala318Gly) c.542C>G (p.Ala181Gly) | gnomAD v4 |
1 | g.169555347G>T | CA343132670 | F5 | c.953C>A (p.Ala318Asp) c.542C>A (p.Ala181Asp) | |
1 | g.169555348C>A | CA343132674 | F5 | c.953-1G>T (n.953-1G>T) c.542-1G>T (n.542-1G>T) | |
1 | g.169555348C>G | CA343132675 | F5 | c.953-1G>C (n.953-1G>C) c.542-1G>C (n.542-1G>C) | |
1 | g.169555348C>T | CA343132676 | F5 | c.953-1G>A (n.953-1G>A) c.542-1G>A (n.542-1G>A) | ClinVar gnomAD v4 |
1 | g.169555349T>A | CA343132677 | F5 | c.953-2A>T (n.953-2A>T) c.542-2A>T (n.542-2A>T) | |
1 | g.169555349T>C | CA343132678 | F5 | c.953-2A>G (n.953-2A>G) c.542-2A>G (n.542-2A>G) | |
1 | g.169555349T>G | CA343132680 | F5 | c.953-2A>C (n.953-2A>C) c.542-2A>C (n.542-2A>C) | |
1 | g.169555349T= | CA1206149427 | F5 | c.953-2A= (n.953-2A=) c.542-2A= (n.542-2A=) | |
1 | g.169555350G>A | CA1008979536 | F5 | c.953-3C>T (n.953-3C>T) c.542-3C>T (n.542-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555350G= | CA1206149429 | F5 | c.953-3C= (n.953-3C=) c.542-3C= (n.542-3C=) | |
1 | g.169555352G>A | CA2573946599 | F5 | c.953-5C>T (n.953-5C>T) c.542-5C>T (n.542-5C>T) | gnomAD v4 |
1 | g.169555355A= | CA1206149432 | F5 | c.953-8T= (n.953-8T=) c.542-8T= (n.542-8T=) | |
1 | g.169555355A>C | CA1234463 | F5 | c.953-8T>G (n.953-8T>G) c.542-8T>G (n.542-8T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.169555356G>A | CA2649036560 | F5 | c.953-9C>T (n.953-9C>T) c.542-9C>T (n.542-9C>T) | gnomAD v4 |
1 | g.169555357G>A | CA1234464 | F5 | c.953-10C>T (n.953-10C>T) c.542-10C>T (n.542-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555357G>C | CA1234465 | F5 | c.953-10C>G (n.953-10C>G) c.542-10C>G (n.542-10C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555357G= | CA1145344335 | F5 | c.953-10C= (n.953-10C=) c.542-10C= (n.542-10C=) | |
1 | g.169555358A>G | CA2649036568 | F5 | c.953-11T>C (n.953-11T>C) c.542-11T>C (n.542-11T>C) | gnomAD v4 |
1 | g.169555359C>T | CA2649036572 | F5 | c.953-12G>A (n.953-12G>A) c.542-12G>A (n.542-12G>A) | gnomAD v4 |
1 | g.169555360A= | CA1206149442 | F5 | c.953-13T= (n.953-13T=) c.542-13T= (n.542-13T=) | |
1 | g.169555360A>C | CA1234466 | F5 | c.953-13T>G (n.953-13T>G) c.542-13T>G (n.542-13T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555360A>G | CA527131311 | F5 | c.953-13T>C (n.953-13T>C) c.542-13T>C (n.542-13T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555361G>A | CA2573946614 | F5 | c.953-14C>T (n.953-14C>T) c.542-14C>T (n.542-14C>T) | gnomAD v4 |
1 | g.169555361G>C | CA527131312 | F5 | c.953-14C>G (n.953-14C>G) c.542-14C>G (n.542-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555361G= | CA1206149446 | F5 | c.953-14C= (n.953-14C=) c.542-14C= (n.542-14C=) | |
1 | g.169555361G>T | CA527131313 | F5 | c.953-14C>A (n.953-14C>A) c.542-14C>A (n.542-14C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555367C= | CA1206149447 | F5 | c.953-20G= (n.953-20G=) c.542-20G= (n.542-20G=) | |
1 | g.169555367C>T | CA1234467 | F5 | c.953-20G>A (n.953-20G>A) c.542-20G>A (n.542-20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555369A= | CA1206149449 | F5 | c.953-22T= (n.953-22T=) c.542-22T= (n.542-22T=) | |
1 | g.169555369A>G | CA1008979544 | F5 | c.953-22T>C (n.953-22T>C) c.542-22T>C (n.542-22T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555370T>G | CA527131314 | F5 | c.953-23A>C (n.953-23A>C) c.542-23A>C (n.542-23A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555370T= | CA1206149450 | F5 | c.953-23A= (n.953-23A=) c.542-23A= (n.542-23A=) | |
1 | g.169555371G>A | CA890930142 | F5 | c.953-24C>T (n.953-24C>T) c.542-24C>T (n.542-24C>T) | dbSNP |
1 | g.169555371G= | CA1206149452 | F5 | c.953-24C= (n.953-24C=) c.542-24C= (n.542-24C=) | |
1 | g.169555371G>T | CA2573946630 | F5 | c.953-24C>A (n.953-24C>A) c.542-24C>A (n.542-24C>A) | |
1 | g.169555373A>T | CA2697394099 | F5 | c.953-26T>A (n.953-26T>A) c.542-26T>A (n.542-26T>A) | dbSNP |
1 | g.169555375_169555380delinsTAACTC | CA1206149453 | F5 | c.953-33_953-28delinsGAGTTA (n.953-33_953-28delinsGAGTTA) c.542-33_542-28delinsGAGTTA (n.542-33_542-28delinsGAGTTA) | |
1 | g.169555376A= | CA1206149455 | F5 | c.953-29T= (n.953-29T=) c.542-29T= (n.542-29T=) | |
1 | g.169555376A>C | CA32390681 | F5 | c.953-29T>G (n.953-29T>G) c.542-29T>G (n.542-29T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555378_169555382del | CA890930145 | F5 | c.953-33_953-29del (n.953-33_953-29del) c.542-33_542-29del (n.542-33_542-29del) | dbSNP gnomAD v4 |
1 | g.169555378C= | CA1206149457 | F5 | c.953-31G= (n.953-31G=) c.542-31G= (n.542-31G=) | |
1 | g.169555378C>T | CA527131315 | F5 | c.953-31G>A (n.953-31G>A) c.542-31G>A (n.542-31G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555380C>A | CA2649036585 | F5 | c.953-33G>T (n.953-33G>T) c.542-33G>T (n.542-33G>T) | gnomAD v4 |
1 | g.169555381_169555382del | CA2529224744 | F5 | c.953-35_953-34del (n.953-35_953-34del) c.542-35_542-34del (n.542-35_542-34del) | |
1 | g.169555382A= | CA1206149458 | F5 | c.953-35T= (n.953-35T=) c.542-35T= (n.542-35T=) | |
1 | g.169555382A>G | CA1206149459 | F5 | c.953-35T>C (n.953-35T>C) c.542-35T>C (n.542-35T>C) | dbSNP |
1 | g.169555385G>T | CA2649036586 | F5 | c.953-38C>A (n.953-38C>A) c.542-38C>A (n.542-38C>A) | gnomAD v4 |
1 | g.169555387A>G | CA2649036587 | F5 | c.953-40T>C (n.953-40T>C) c.542-40T>C (n.542-40T>C) | gnomAD v4 |
1 | g.169555388G>A | CA2649036589 | F5 | c.953-41C>T (n.953-41C>T) c.542-41C>T (n.542-41C>T) | gnomAD v4 |
1 | g.169555393T>G | CA2649036590 | F5 | c.953-46A>C (n.953-46A>C) c.542-46A>C (n.542-46A>C) | gnomAD v4 |
1 | g.169555395T>C | CA1234468 | F5 | c.953-48A>G (n.953-48A>G) c.542-48A>G (n.542-48A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555395T= | CA1144117450 | F5 | c.953-48A= (n.953-48A=) c.542-48A= (n.542-48A=) | |
1 | g.169555396G>T | CA2649036594 | F5 | c.953-49C>A (n.953-49C>A) c.542-49C>A (n.542-49C>A) | gnomAD v4 |
1 | g.169555397G>A | CA527131316 | F5 | c.953-50C>T (n.953-50C>T) c.542-50C>T (n.542-50C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.169555397G= | CA1206149462 | F5 | c.953-50C= (n.953-50C=) c.542-50C= (n.542-50C=) | |
1 | g.169555397G>T | CA2649036597 | F5 | c.953-50C>A (n.953-50C>A) c.542-50C>A (n.542-50C>A) | gnomAD v4 |
1 | g.169555400G>T | CA2649036599 | F5 | c.953-53C>A (n.953-53C>A) c.542-53C>A (n.542-53C>A) | gnomAD v4 |
1 | g.169555401A= | CA1206149463 | F5 | c.953-54T= (n.953-54T=) c.542-54T= (n.542-54T=) | |
1 | g.169555401A>C | CA2573946643 | F5 | c.953-54T>G (n.953-54T>G) c.542-54T>G (n.542-54T>G) | |
1 | g.169555401A>T | CA32390687 | F5 | c.953-54T>A (n.953-54T>A) c.542-54T>A (n.542-54T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.169555402T>C | CA1008979553 | F5 | c.953-55A>G (n.953-55A>G) c.542-55A>G (n.542-55A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.169555402T= | CA1206149465 | F5 | c.953-55A= (n.953-55A=) c.542-55A= (n.542-55A=) |