Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99884406A= | CA1183930573 | AGL | c.2501A= (p.Glu834=) n.2712A= c.2453A= (p.Glu818=) c.2450A= (p.Glu817=) c.761A= (p.Glu254=) | |
1 | g.99884406A>C | CA341321270 | AGL | c.2501A>C (p.Glu834Ala) n.2712A>C c.2453A>C (p.Glu818Ala) c.2450A>C (p.Glu817Ala) c.761A>C (p.Glu254Ala) | dbSNP |
1 | g.99884406A>G | CA341321272 | AGL | c.2501A>G (p.Glu834Gly) n.2712A>G c.2453A>G (p.Glu818Gly) c.2450A>G (p.Glu817Gly) c.761A>G (p.Glu254Gly) | |
1 | g.99884406A>T | CA341321274 | AGL | c.2501A>T (p.Glu834Val) n.2712A>T c.2453A>T (p.Glu818Val) c.2450A>T (p.Glu817Val) c.761A>T (p.Glu254Val) | |
1 | g.99884407A>C | CA341321277 | AGL | c.2502A>C (p.Glu834Asp) n.2713A>C c.2454A>C (p.Glu818Asp) c.2451A>C (p.Glu817Asp) c.762A>C (p.Glu254Asp) | |
1 | g.99884407A>G | CA419314310 | AGL | c.2502A>G (p.Glu834=) n.2713A>G c.2454A>G (p.Glu818=) c.2451A>G (p.Glu817=) c.762A>G (p.Glu254=) | |
1 | g.99884407A>T | CA341321279 | AGL | c.2502A>T (p.Glu834Asp) n.2713A>T c.2454A>T (p.Glu818Asp) c.2451A>T (p.Glu817Asp) c.762A>T (p.Glu254Asp) | |
1 | g.99884408A= | CA1183930574 | AGL | c.2503A= (p.Ile835=) n.2714A= c.2455A= (p.Ile819=) c.2452A= (p.Ile818=) c.763A= (p.Ile255=) | |
1 | g.99884408A>C | CA341321285 | AGL | c.2503A>C (p.Ile835Leu) n.2714A>C c.2455A>C (p.Ile819Leu) c.2452A>C (p.Ile818Leu) c.763A>C (p.Ile255Leu) | |
1 | g.99884408A>G | CA341321283 | AGL | c.2503A>G (p.Ile835Val) n.2714A>G c.2455A>G (p.Ile819Val) c.2452A>G (p.Ile818Val) c.763A>G (p.Ile255Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884408A>T | CA341321281 | AGL | c.2503A>T (p.Ile835Leu) n.2714A>T c.2455A>T (p.Ile819Leu) c.2452A>T (p.Ile818Leu) c.763A>T (p.Ile255Leu) | |
1 | g.99884409T>A | CA341321287 | AGL | c.2504T>A (p.Ile835Lys) n.2715T>A c.2456T>A (p.Ile819Lys) c.2453T>A (p.Ile818Lys) c.764T>A (p.Ile255Lys) | |
1 | g.99884409T>C | CA341321290 | AGL | c.2504T>C (p.Ile835Thr) n.2715T>C c.2456T>C (p.Ile819Thr) c.2453T>C (p.Ile818Thr) c.764T>C (p.Ile255Thr) | gnomAD v4 |
1 | g.99884409T>G | CA341321288 | AGL | c.2504T>G (p.Ile835Arg) n.2715T>G c.2456T>G (p.Ile819Arg) c.2453T>G (p.Ile818Arg) c.764T>G (p.Ile255Arg) | |
1 | g.99884410A= | CA1183930575 | AGL | c.2505A= (p.Ile835=) n.2716A= c.2457A= (p.Ile819=) c.2454A= (p.Ile818=) c.765A= (p.Ile255=) | |
1 | g.99884410A>C | CA419314312 | AGL | c.2505A>C (p.Ile835=) n.2716A>C c.2457A>C (p.Ile819=) c.2454A>C (p.Ile818=) c.765A>C (p.Ile255=) | |
1 | g.99884410A>G | CA341321291 | AGL | c.2505A>G (p.Ile835Met) n.2716A>G c.2457A>G (p.Ile819Met) c.2454A>G (p.Ile818Met) c.765A>G (p.Ile255Met) | ClinVar dbSNP |
1 | g.99884410A>T | CA419314311 | AGL | c.2505A>T (p.Ile835=) n.2716A>T c.2457A>T (p.Ile819=) c.2454A>T (p.Ile818=) c.765A>T (p.Ile255=) | |
1 | g.99884411G>A | CA966803 | AGL | c.2506G>A (p.Glu836Lys) n.2717G>A c.2458G>A (p.Glu820Lys) c.2455G>A (p.Glu819Lys) c.766G>A (p.Glu256Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884411G>C | CA341321292 | AGL | c.2506G>C (p.Glu836Gln) n.2717G>C c.2458G>C (p.Glu820Gln) c.2455G>C (p.Glu819Gln) c.766G>C (p.Glu256Gln) | gnomAD v4 |
1 | g.99884411G= | CA1183930576 | AGL | c.2506G= (p.Glu836=) n.2717G= c.2458G= (p.Glu820=) c.2455G= (p.Glu819=) c.766G= (p.Glu256=) | |
1 | g.99884411G>T | CA341321295 | AGL | c.2506G>T (p.Glu836Ter) n.2717G>T c.2458G>T (p.Glu820Ter) c.2455G>T (p.Glu819Ter) c.766G>T (p.Glu256Ter) | COSMIC |
1 | g.99884412A>C | CA341321297 | AGL | c.2507A>C (p.Glu836Ala) n.2718A>C c.2459A>C (p.Glu820Ala) c.2456A>C (p.Glu819Ala) c.767A>C (p.Glu256Ala) | |
1 | g.99884412A>G | CA341321299 | AGL | c.2507A>G (p.Glu836Gly) n.2718A>G c.2459A>G (p.Glu820Gly) c.2456A>G (p.Glu819Gly) c.767A>G (p.Glu256Gly) | |
1 | g.99884412A>T | CA341321301 | AGL | c.2507A>T (p.Glu836Val) n.2718A>T c.2459A>T (p.Glu820Val) c.2456A>T (p.Glu819Val) c.767A>T (p.Glu256Val) | |
1 | g.99884413A= | CA1148295091 | AGL | c.2508A= (p.Glu836=) n.2719A= c.2460A= (p.Glu820=) c.2457A= (p.Glu819=) c.768A= (p.Glu256=) | |
1 | g.99884413A>C | CA341321303 | AGL | c.2508A>C (p.Glu836Asp) n.2719A>C c.2460A>C (p.Glu820Asp) c.2457A>C (p.Glu819Asp) c.768A>C (p.Glu256Asp) | |
1 | g.99884413A>G | CA419314313 | AGL | c.2508A>G (p.Glu836=) n.2719A>G c.2460A>G (p.Glu820=) c.2457A>G (p.Glu819=) c.768A>G (p.Glu256=) | gnomAD v4 |
1 | g.99884413A>T | CA966804 | AGL | c.2508A>T (p.Glu836Asp) n.2719A>T c.2460A>T (p.Glu820Asp) c.2457A>T (p.Glu819Asp) c.768A>T (p.Glu256Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884414T>A | CA341321305 | AGL | c.2509T>A (p.Phe837Ile) n.2720T>A c.2461T>A (p.Phe821Ile) c.2458T>A (p.Phe820Ile) c.769T>A (p.Phe257Ile) | |
1 | g.99884414T>C | CA341321307 | AGL | c.2509T>C (p.Phe837Leu) n.2720T>C c.2461T>C (p.Phe821Leu) c.2458T>C (p.Phe820Leu) c.769T>C (p.Phe257Leu) | dbSNP gnomAD v4 |
1 | g.99884414T>G | CA341321309 | AGL | c.2509T>G (p.Phe837Val) n.2720T>G c.2461T>G (p.Phe821Val) c.2458T>G (p.Phe820Val) c.769T>G (p.Phe257Val) | |
1 | g.99884415T>A | CA341321311 | AGL | c.2510T>A (p.Phe837Tyr) n.2721T>A c.2462T>A (p.Phe821Tyr) c.2459T>A (p.Phe820Tyr) c.770T>A (p.Phe257Tyr) | |
1 | g.99884415T>C | CA341321312 | AGL | c.2510T>C (p.Phe837Ser) n.2721T>C c.2462T>C (p.Phe821Ser) c.2459T>C (p.Phe820Ser) c.770T>C (p.Phe257Ser) | |
1 | g.99884415T>G | CA341321313 | AGL | c.2510T>G (p.Phe837Cys) n.2721T>G c.2462T>G (p.Phe821Cys) c.2459T>G (p.Phe820Cys) c.770T>G (p.Phe257Cys) | |
1 | g.99884416T>A | CA341321316 | AGL | c.2511T>A (p.Phe837Leu) n.2722T>A c.2463T>A (p.Phe821Leu) c.2460T>A (p.Phe820Leu) c.771T>A (p.Phe257Leu) | |
1 | g.99884416T>C | CA419314314 | AGL | c.2511T>C (p.Phe837=) n.2722T>C c.2463T>C (p.Phe821=) c.2460T>C (p.Phe820=) c.771T>C (p.Phe257=) | |
1 | g.99884416T>G | CA341321317 | AGL | c.2511T>G (p.Phe837Leu) n.2722T>G c.2463T>G (p.Phe821Leu) c.2460T>G (p.Phe820Leu) c.771T>G (p.Phe257Leu) | gnomAD v4 |
1 | g.99884417G>A | CA341321323 | AGL | c.2512G>A (p.Glu838Lys) n.2723G>A c.2464G>A (p.Glu822Lys) c.2461G>A (p.Glu821Lys) c.772G>A (p.Glu258Lys) | |
1 | g.99884417G>C | CA341321319 | AGL | c.2512G>C (p.Glu838Gln) n.2723G>C c.2464G>C (p.Glu822Gln) c.2461G>C (p.Glu821Gln) c.772G>C (p.Glu258Gln) | |
1 | g.99884417G>T | CA341321321 | AGL | c.2512G>T (p.Glu838Ter) n.2723G>T c.2464G>T (p.Glu822Ter) c.2461G>T (p.Glu821Ter) c.772G>T (p.Glu258Ter) | |
1 | g.99884418A>C | CA341321325 | AGL | c.2513A>C (p.Glu838Ala) n.2724A>C c.2465A>C (p.Glu822Ala) c.2462A>C (p.Glu821Ala) c.773A>C (p.Glu258Ala) | |
1 | g.99884418A>G | CA341321327 | AGL | c.2513A>G (p.Glu838Gly) n.2724A>G c.2465A>G (p.Glu822Gly) c.2462A>G (p.Glu821Gly) c.773A>G (p.Glu258Gly) | |
1 | g.99884418A>T | CA341321329 | AGL | c.2513A>T (p.Glu838Val) n.2724A>T c.2465A>T (p.Glu822Val) c.2462A>T (p.Glu821Val) c.773A>T (p.Glu258Val) | |
1 | g.99884421dup | CA2580063436 | AGL | c.2516dup (p.Asn839LysfsTer13) n.2727dup c.2468dup (p.Asn823LysfsTer13) c.2465dup (p.Asn822LysfsTer13) c.776dup (p.Asn259LysfsTer13) | ClinVar |
1 | g.99884419A= | CA1183930577 | AGL | c.2514A= (p.Glu838=) n.2725A= c.2466A= (p.Glu822=) c.2463A= (p.Glu821=) c.774A= (p.Glu258=) | |
1 | g.99884419A>C | CA341321331 | AGL | c.2514A>C (p.Glu838Asp) n.2725A>C c.2466A>C (p.Glu822Asp) c.2463A>C (p.Glu821Asp) c.774A>C (p.Glu258Asp) | |
1 | g.99884419A>G | CA419314315 | AGL | c.2514A>G (p.Glu838=) n.2725A>G c.2466A>G (p.Glu822=) c.2463A>G (p.Glu821=) c.774A>G (p.Glu258=) | dbSNP |
1 | g.99884419A>T | CA341321333 | AGL | c.2514A>T (p.Glu838Asp) n.2725A>T c.2466A>T (p.Glu822Asp) c.2463A>T (p.Glu821Asp) c.774A>T (p.Glu258Asp) | |
1 | g.99884420A>C | CA341321335 | AGL | c.2515A>C (p.Asn839His) n.2726A>C c.2467A>C (p.Asn823His) c.2464A>C (p.Asn822His) c.775A>C (p.Asn259His) | |
1 | g.99884420A>G | CA341321337 | AGL | c.2515A>G (p.Asn839Asp) n.2726A>G c.2467A>G (p.Asn823Asp) c.2464A>G (p.Asn822Asp) c.775A>G (p.Asn259Asp) | |
1 | g.99884420A>T | CA341321338 | AGL | c.2515A>T (p.Asn839Tyr) n.2726A>T c.2467A>T (p.Asn823Tyr) c.2464A>T (p.Asn822Tyr) c.775A>T (p.Asn259Tyr) | |
1 | g.99884421A>C | CA341321340 | AGL | c.2516A>C (p.Asn839Thr) n.2727A>C c.2468A>C (p.Asn823Thr) c.2465A>C (p.Asn822Thr) c.776A>C (p.Asn259Thr) | gnomAD v4 |
1 | g.99884421A>G | CA341321342 | AGL | c.2516A>G (p.Asn839Ser) n.2727A>G c.2468A>G (p.Asn823Ser) c.2465A>G (p.Asn822Ser) c.776A>G (p.Asn259Ser) | |
1 | g.99884421A>T | CA341321344 | AGL | c.2516A>T (p.Asn839Ile) n.2727A>T c.2468A>T (p.Asn823Ile) c.2465A>T (p.Asn822Ile) c.776A>T (p.Asn259Ile) | |
1 | g.99884422C>A | CA341321345 | AGL | c.2517C>A (p.Asn839Lys) n.2728C>A c.2469C>A (p.Asn823Lys) c.2466C>A (p.Asn822Lys) c.777C>A (p.Asn259Lys) | |
1 | g.99884422C= | CA1183930578 | AGL | c.2517C= (p.Asn839=) n.2728C= c.2469C= (p.Asn823=) c.2466C= (p.Asn822=) c.777C= (p.Asn259=) | |
1 | g.99884422C>G | CA341321347 | AGL | c.2517C>G (p.Asn839Lys) n.2728C>G c.2469C>G (p.Asn823Lys) c.2466C>G (p.Asn822Lys) c.777C>G (p.Asn259Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99884422C>T | CA419314316 | AGL | c.2517C>T (p.Asn839=) n.2728C>T c.2469C>T (p.Asn823=) c.2466C>T (p.Asn822=) c.777C>T (p.Asn259=) | |
1 | g.99884423T>A | CA341321348 | AGL | c.2518T>A (p.Leu840Met) n.2729T>A c.2470T>A (p.Leu824Met) c.2467T>A (p.Leu823Met) c.778T>A (p.Leu260Met) | |
1 | g.99884423T>C | CA419314317 | AGL | c.2518T>C (p.Leu840=) n.2729T>C c.2470T>C (p.Leu824=) c.2467T>C (p.Leu823=) c.778T>C (p.Leu260=) | ClinVar dbSNP COSMIC COSMIC |
1 | g.99884423T>G | CA341321350 | AGL | c.2518T>G (p.Leu840Val) n.2729T>G c.2470T>G (p.Leu824Val) c.2467T>G (p.Leu823Val) c.778T>G (p.Leu260Val) | |
1 | g.99884424T>A | CA341321352 | AGL | c.2519T>A (p.Leu840Ter) n.2730T>A c.2471T>A (p.Leu824Ter) c.2468T>A (p.Leu823Ter) c.779T>A (p.Leu260Ter) | |
1 | g.99884424T>C | CA341321354 | AGL | c.2519T>C (p.Leu840Ser) n.2730T>C c.2471T>C (p.Leu824Ser) c.2468T>C (p.Leu823Ser) c.779T>C (p.Leu260Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884424T>G | CA341321356 | AGL | c.2519T>G (p.Leu840Trp) n.2730T>G c.2471T>G (p.Leu824Trp) c.2468T>G (p.Leu823Trp) c.779T>G (p.Leu260Trp) | |
1 | g.99884424T= | CA1183930579 | AGL | c.2519T= (p.Leu840=) n.2730T= c.2471T= (p.Leu824=) c.2468T= (p.Leu823=) c.779T= (p.Leu260=) | |
1 | g.99884425G>A | CA419314318 | AGL | c.2520G>A (p.Leu840=) n.2731G>A c.2472G>A (p.Leu824=) c.2469G>A (p.Leu823=) c.780G>A (p.Leu260=) | |
1 | g.99884425G>C | CA341321359 | AGL | c.2520G>C (p.Leu840Phe) n.2731G>C c.2472G>C (p.Leu824Phe) c.2469G>C (p.Leu823Phe) c.780G>C (p.Leu260Phe) | |
1 | g.99884425G= | CA1183930580 | AGL | c.2520G= (p.Leu840=) n.2731G= c.2472G= (p.Leu824=) c.2469G= (p.Leu823=) c.780G= (p.Leu260=) | |
1 | g.99884425G>T | CA341321361 | AGL | c.2520G>T (p.Leu840Phe) n.2731G>T c.2472G>T (p.Leu824Phe) c.2469G>T (p.Leu823Phe) c.780G>T (p.Leu260Phe) | dbSNP COSMIC COSMIC |
1 | g.99884425_99884429dup | CA966805 | AGL | c.2520_2524dup (p.Pro842ArgfsTer28) n.2731_2735dup c.2472_2476dup (p.Pro826ArgfsTer28) c.2469_2473dup (p.Pro825ArgfsTer28) c.780_784dup (p.Pro262ArgfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884426T>A | CA341321363 | AGL | c.2521T>A (p.Ser841Thr) n.2732T>A c.2473T>A (p.Ser825Thr) c.2470T>A (p.Ser824Thr) c.781T>A (p.Ser261Thr) | |
1 | g.99884426T>C | CA966806 | AGL | c.2521T>C (p.Ser841Pro) n.2732T>C c.2473T>C (p.Ser825Pro) c.2470T>C (p.Ser824Pro) c.781T>C (p.Ser261Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884426T>G | CA341321364 | AGL | c.2521T>G (p.Ser841Ala) n.2732T>G c.2473T>G (p.Ser825Ala) c.2470T>G (p.Ser824Ala) c.781T>G (p.Ser261Ala) | |
1 | g.99884426T= | CA1183930581 | AGL | c.2521T= (p.Ser841=) n.2732T= c.2473T= (p.Ser825=) c.2470T= (p.Ser824=) c.781T= (p.Ser261=) | |
1 | g.99884427C>A | CA966808 | AGL | c.2522C>A (p.Ser841Tyr) n.2733C>A c.2474C>A (p.Ser825Tyr) c.2471C>A (p.Ser824Tyr) c.782C>A (p.Ser261Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884427C= | CA1142364300 | AGL | c.2522C= (p.Ser841=) n.2733C= c.2474C= (p.Ser825=) c.2471C= (p.Ser824=) c.782C= (p.Ser261=) | |
1 | g.99884427C>G | CA341321367 | AGL | c.2522C>G (p.Ser841Cys) n.2733C>G c.2474C>G (p.Ser825Cys) c.2471C>G (p.Ser824Cys) c.782C>G (p.Ser261Cys) | |
1 | g.99884427C>T | CA966807 | AGL | c.2522C>T (p.Ser841Phe) n.2733C>T c.2474C>T (p.Ser825Phe) c.2471C>T (p.Ser824Phe) c.782C>T (p.Ser261Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884428T>A | CA419314319 | AGL | c.2523T>A (p.Ser841=) n.2734T>A c.2475T>A (p.Ser825=) c.2472T>A (p.Ser824=) c.783T>A (p.Ser261=) | |
1 | g.99884428T>C | CA419314320 | AGL | c.2523T>C (p.Ser841=) n.2734T>C c.2475T>C (p.Ser825=) c.2472T>C (p.Ser824=) c.783T>C (p.Ser261=) | |
1 | g.99884428T>G | CA419314321 | AGL | c.2523T>G (p.Ser841=) n.2734T>G c.2475T>G (p.Ser825=) c.2472T>G (p.Ser824=) c.783T>G (p.Ser261=) | |
1 | g.99884428_99884429delinsTC | CA1183930582 | AGL | c.2523_2524delinsTC (p.Ser841=) n.2734_2735delinsTC c.2475_2476delinsTC (p.Ser825=) c.2472_2473delinsTC (p.Ser824=) c.783_784delinsTC (p.Ser261=) | |
1 | g.99884429C>A | CA341321376 | AGL | c.2524C>A (p.Pro842Thr) n.2735C>A c.2476C>A (p.Pro826Thr) c.2473C>A (p.Pro825Thr) c.784C>A (p.Pro262Thr) | |
1 | g.99884429C>G | CA341321374 | AGL | c.2524C>G (p.Pro842Ala) n.2735C>G c.2476C>G (p.Pro826Ala) c.2473C>G (p.Pro825Ala) c.784C>G (p.Pro262Ala) | |
1 | g.99884429C>T | CA341321371 | AGL | c.2524C>T (p.Pro842Ser) n.2735C>T c.2476C>T (p.Pro826Ser) c.2473C>T (p.Pro825Ser) c.784C>T (p.Pro262Ser) | |
1 | g.99884430del | CA16040836 | AGL | c.2525del (p.Pro842GlnfsTer26) n.2736del c.2477del (p.Pro826GlnfsTer26) c.2474del (p.Pro825GlnfsTer26) c.785del (p.Pro262GlnfsTer26) | ClinVar dbSNP |
1 | g.99884430C>A | CA341321378 | AGL | c.2525C>A (p.Pro842Gln) n.2736C>A c.2477C>A (p.Pro826Gln) c.2474C>A (p.Pro825Gln) c.785C>A (p.Pro262Gln) | gnomAD v4 |
1 | g.99884430C>G | CA341321380 | AGL | c.2525C>G (p.Pro842Arg) n.2736C>G c.2477C>G (p.Pro826Arg) c.2474C>G (p.Pro825Arg) c.785C>G (p.Pro262Arg) | |
1 | g.99884430C>T | CA341321382 | AGL | c.2525C>T (p.Pro842Leu) n.2736C>T c.2477C>T (p.Pro826Leu) c.2474C>T (p.Pro825Leu) c.785C>T (p.Pro262Leu) | dbSNP |
1 | g.99884431A>C | CA419314322 | AGL | c.2526A>C (p.Pro842=) n.2737A>C c.2478A>C (p.Pro826=) c.2475A>C (p.Pro825=) c.786A>C (p.Pro262=) | |
1 | g.99884431A>G | CA419314323 | AGL | c.2526A>G (p.Pro842=) n.2737A>G c.2478A>G (p.Pro826=) c.2475A>G (p.Pro825=) c.786A>G (p.Pro262=) | ClinVar |
1 | g.99884431A>T | CA419314324 | AGL | c.2526A>T (p.Pro842=) n.2737A>T c.2478A>T (p.Pro826=) c.2475A>T (p.Pro825=) c.786A>T (p.Pro262=) | |
1 | g.99884432G>A | CA341321384 | AGL | c.2527G>A (p.Gly843Arg) n.2738G>A c.2479G>A (p.Gly827Arg) c.2476G>A (p.Gly826Arg) c.787G>A (p.Gly263Arg) | |
1 | g.99884432G>C | CA341321385 | AGL | c.2527G>C (p.Gly843Arg) n.2738G>C c.2479G>C (p.Gly827Arg) c.2476G>C (p.Gly826Arg) c.787G>C (p.Gly263Arg) | |
1 | g.99884432G>T | CA341321387 | AGL | c.2527G>T (p.Gly843Ter) n.2738G>T c.2479G>T (p.Gly827Ter) c.2476G>T (p.Gly826Ter) c.787G>T (p.Gly263Ter) | |
1 | g.99884433G>A | CA341321389 | AGL | c.2528G>A (p.Gly843Glu) n.2739G>A c.2480G>A (p.Gly827Glu) c.2477G>A (p.Gly826Glu) c.788G>A (p.Gly263Glu) | |
1 | g.99884433G>C | CA341321390 | AGL | c.2528G>C (p.Gly843Ala) n.2739G>C c.2480G>C (p.Gly827Ala) c.2477G>C (p.Gly826Ala) c.788G>C (p.Gly263Ala) | |
1 | g.99884433G>T | CA341321392 | AGL | c.2528G>T (p.Gly843Val) n.2739G>T c.2480G>T (p.Gly827Val) c.2477G>T (p.Gly826Val) c.788G>T (p.Gly263Val) | |
1 | g.99884434A= | CA1183930583 | AGL | c.2529A= (p.Gly843=) n.2740A= c.2481A= (p.Gly827=) c.2478A= (p.Gly826=) c.789A= (p.Gly263=) | |
1 | g.99884434A>C | CA419314325 | AGL | c.2529A>C (p.Gly843=) n.2740A>C c.2481A>C (p.Gly827=) c.2478A>C (p.Gly826=) c.789A>C (p.Gly263=) | |
1 | g.99884434A>G | CA419314326 | AGL | c.2529A>G (p.Gly843=) n.2740A>G c.2481A>G (p.Gly827=) c.2478A>G (p.Gly826=) c.789A>G (p.Gly263=) | |
1 | g.99884434A>T | CA419314327 | AGL | c.2529A>T (p.Gly843=) n.2740A>T c.2481A>T (p.Gly827=) c.2478A>T (p.Gly826=) c.789A>T (p.Gly263=) | dbSNP gnomAD v2 |
1 | g.99884435dup | CA2580063438 | AGL | c.2530dup (p.Ser844LysfsTer8) n.2741dup c.2482dup (p.Ser828LysfsTer8) c.2479dup (p.Ser827LysfsTer8) c.790dup (p.Ser264LysfsTer8) | ClinVar |
1 | g.99884435A>C | CA341321394 | AGL | c.2530A>C (p.Ser844Arg) n.2741A>C c.2482A>C (p.Ser828Arg) c.2479A>C (p.Ser827Arg) c.790A>C (p.Ser264Arg) | |
1 | g.99884435A>G | CA341321395 | AGL | c.2530A>G (p.Ser844Gly) n.2741A>G c.2482A>G (p.Ser828Gly) c.2479A>G (p.Ser827Gly) c.790A>G (p.Ser264Gly) | |
1 | g.99884435A>T | CA341321397 | AGL | c.2530A>T (p.Ser844Cys) n.2741A>T c.2482A>T (p.Ser828Cys) c.2479A>T (p.Ser827Cys) c.790A>T (p.Ser264Cys) | |
1 | g.99884436G>A | CA341321400 | AGL | c.2531G>A (p.Ser844Asn) n.2742G>A c.2483G>A (p.Ser828Asn) c.2480G>A (p.Ser827Asn) c.791G>A (p.Ser264Asn) | gnomAD v4 |
1 | g.99884436G>C | CA341321402 | AGL | c.2531G>C (p.Ser844Thr) n.2742G>C c.2483G>C (p.Ser828Thr) c.2480G>C (p.Ser827Thr) c.791G>C (p.Ser264Thr) | |
1 | g.99884436G>T | CA341321401 | AGL | c.2531G>T (p.Ser844Ile) n.2742G>T c.2483G>T (p.Ser828Ile) c.2480G>T (p.Ser827Ile) c.791G>T (p.Ser264Ile) | |
1 | g.99884437T>A | CA341321404 | AGL | c.2532T>A (p.Ser844Arg) n.2743T>A c.2484T>A (p.Ser828Arg) c.2481T>A (p.Ser827Arg) c.792T>A (p.Ser264Arg) | |
1 | g.99884437T>C | CA419314328 | AGL | c.2532T>C (p.Ser844=) n.2743T>C c.2484T>C (p.Ser828=) c.2481T>C (p.Ser827=) c.792T>C (p.Ser264=) | |
1 | g.99884437T>G | CA341321405 | AGL | c.2532T>G (p.Ser844Arg) n.2743T>G c.2484T>G (p.Ser828Arg) c.2481T>G (p.Ser827Arg) c.792T>G (p.Ser264Arg) | |
1 | g.99884438G>A | CA341321407 | AGL | c.2533G>A (p.Val845Ile) n.2744G>A c.2485G>A (p.Val829Ile) c.2482G>A (p.Val828Ile) c.793G>A (p.Val265Ile) | |
1 | g.99884438G>C | CA341321409 | AGL | c.2533G>C (p.Val845Leu) n.2744G>C c.2485G>C (p.Val829Leu) c.2482G>C (p.Val828Leu) c.793G>C (p.Val265Leu) | |
1 | g.99884438G>T | CA341321410 | AGL | c.2533G>T (p.Val845Phe) n.2744G>T c.2485G>T (p.Val829Phe) c.2482G>T (p.Val828Phe) c.793G>T (p.Val265Phe) | |
1 | g.99884439T>A | CA341321411 | AGL | c.2534T>A (p.Val845Asp) n.2745T>A c.2486T>A (p.Val829Asp) c.2483T>A (p.Val828Asp) c.794T>A (p.Val265Asp) | |
1 | g.99884439T>C | CA341321413 | AGL | c.2534T>C (p.Val845Ala) n.2745T>C c.2486T>C (p.Val829Ala) c.2483T>C (p.Val828Ala) c.794T>C (p.Val265Ala) | dbSNP |
1 | g.99884439T>G | CA341321415 | AGL | c.2534T>G (p.Val845Gly) n.2745T>G c.2486T>G (p.Val829Gly) c.2483T>G (p.Val828Gly) c.794T>G (p.Val265Gly) | |
1 | g.99884440T>A | CA419314332 | AGL | c.2535T>A (p.Val845=) n.2746T>A c.2487T>A (p.Val829=) c.2484T>A (p.Val828=) c.795T>A (p.Val265=) | |
1 | g.99884440T>C | CA419314331 | AGL | c.2535T>C (p.Val845=) n.2746T>C c.2487T>C (p.Val829=) c.2484T>C (p.Val828=) c.795T>C (p.Val265=) | |
1 | g.99884440T>G | CA419314330 | AGL | c.2535T>G (p.Val845=) n.2746T>G c.2487T>G (p.Val829=) c.2484T>G (p.Val828=) c.795T>G (p.Val265=) | |
1 | g.99884441A= | CA1183930584 | AGL | c.2536A= (p.Ile846=) n.2747A= c.2488A= (p.Ile830=) c.2485A= (p.Ile829=) c.796A= (p.Ile266=) | |
1 | g.99884441A>C | CA341321417 | AGL | c.2536A>C (p.Ile846Leu) n.2747A>C c.2488A>C (p.Ile830Leu) c.2485A>C (p.Ile829Leu) c.796A>C (p.Ile266Leu) | |
1 | g.99884441A>G | CA966809 | AGL | c.2536A>G (p.Ile846Val) n.2747A>G c.2488A>G (p.Ile830Val) c.2485A>G (p.Ile829Val) c.796A>G (p.Ile266Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884441A>T | CA341321419 | AGL | c.2536A>T (p.Ile846Phe) n.2747A>T c.2488A>T (p.Ile830Phe) c.2485A>T (p.Ile829Phe) c.796A>T (p.Ile266Phe) | |
1 | g.99884442T>A | CA341321421 | AGL | c.2537T>A (p.Ile846Asn) n.2748T>A c.2489T>A (p.Ile830Asn) c.2486T>A (p.Ile829Asn) c.797T>A (p.Ile266Asn) | |
1 | g.99884442T>C | CA341321423 | AGL | c.2537T>C (p.Ile846Thr) n.2748T>C c.2489T>C (p.Ile830Thr) c.2486T>C (p.Ile829Thr) c.797T>C (p.Ile266Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.99884442T>G | CA341321424 | AGL | c.2537T>G (p.Ile846Ser) n.2748T>G c.2489T>G (p.Ile830Ser) c.2486T>G (p.Ile829Ser) c.797T>G (p.Ile266Ser) | |
1 | g.99884442T= | CA1183930585 | AGL | c.2537T= (p.Ile846=) n.2748T= c.2489T= (p.Ile830=) c.2486T= (p.Ile829=) c.797T= (p.Ile266=) | |
1 | g.99884443dup | CA16040837 | AGL | c.2538dup (p.Ile847TyrfsTer5) n.2749dup c.2490dup (p.Ile831TyrfsTer5) c.2487dup (p.Ile830TyrfsTer5) c.798dup (p.Ile267TyrfsTer5) | ClinVar dbSNP |
1 | g.99884443T>A | CA419314337 | AGL | c.2538T>A (p.Ile846=) n.2749T>A c.2490T>A (p.Ile830=) c.2487T>A (p.Ile829=) c.798T>A (p.Ile266=) | |
1 | g.99884443T>C | CA419314336 | AGL | c.2538T>C (p.Ile846=) n.2749T>C c.2490T>C (p.Ile830=) c.2487T>C (p.Ile829=) c.798T>C (p.Ile266=) | |
1 | g.99884443T>G | CA341321426 | AGL | c.2538T>G (p.Ile846Met) n.2749T>G c.2490T>G (p.Ile830Met) c.2487T>G (p.Ile829Met) c.798T>G (p.Ile266Met) | |
1 | g.99884444A>C | CA341321428 | AGL | c.2539A>C (p.Ile847Leu) n.2750A>C c.2491A>C (p.Ile831Leu) c.2488A>C (p.Ile830Leu) c.799A>C (p.Ile267Leu) | |
1 | g.99884444A>G | CA341321432 | AGL | c.2539A>G (p.Ile847Val) n.2750A>G c.2491A>G (p.Ile831Val) c.2488A>G (p.Ile830Val) c.799A>G (p.Ile267Val) | |
1 | g.99884444A>T | CA341321430 | AGL | c.2539A>T (p.Ile847Leu) n.2750A>T c.2491A>T (p.Ile831Leu) c.2488A>T (p.Ile830Leu) c.799A>T (p.Ile267Leu) | gnomAD v4 |
1 | g.99884445T>A | CA341321433 | AGL | c.2540T>A (p.Ile847Lys) n.2751T>A c.2492T>A (p.Ile831Lys) c.2489T>A (p.Ile830Lys) c.800T>A (p.Ile267Lys) | |
1 | g.99884445T>C | CA341321434 | AGL | c.2540T>C (p.Ile847Thr) n.2751T>C c.2492T>C (p.Ile831Thr) c.2489T>C (p.Ile830Thr) c.800T>C (p.Ile267Thr) | |
1 | g.99884445T>G | CA341321435 | AGL | c.2540T>G (p.Ile847Arg) n.2751T>G c.2492T>G (p.Ile831Arg) c.2489T>G (p.Ile830Arg) c.800T>G (p.Ile267Arg) | |
1 | g.99884446A>C | CA419314340 | AGL | c.2541A>C (p.Ile847=) n.2752A>C c.2493A>C (p.Ile831=) c.2490A>C (p.Ile830=) c.801A>C (p.Ile267=) | |
1 | g.99884446A>G | CA341321437 | AGL | c.2541A>G (p.Ile847Met) n.2752A>G c.2493A>G (p.Ile831Met) c.2490A>G (p.Ile830Met) c.801A>G (p.Ile267Met) | |
1 | g.99884446A>T | CA419314342 | AGL | c.2541A>T (p.Ile847=) n.2752A>T c.2493A>T (p.Ile831=) c.2490A>T (p.Ile830=) c.801A>T (p.Ile267=) | |
1 | g.99884447T>A | CA341321439 | AGL | c.2542T>A (p.Phe848Ile) n.2753T>A c.2494T>A (p.Phe832Ile) c.2491T>A (p.Phe831Ile) c.802T>A (p.Phe268Ile) | |
1 | g.99884447T>C | CA341321441 | AGL | c.2542T>C (p.Phe848Leu) n.2753T>C c.2494T>C (p.Phe832Leu) c.2491T>C (p.Phe831Leu) c.802T>C (p.Phe268Leu) | |
1 | g.99884447T>G | CA341321442 | AGL | c.2542T>G (p.Phe848Val) n.2753T>G c.2494T>G (p.Phe832Val) c.2491T>G (p.Phe831Val) c.802T>G (p.Phe268Val) | |
1 | g.99884448T>A | CA341321444 | AGL | c.2543T>A (p.Phe848Tyr) n.2754T>A c.2495T>A (p.Phe832Tyr) c.2492T>A (p.Phe831Tyr) c.803T>A (p.Phe268Tyr) | |
1 | g.99884448T>C | CA341321445 | AGL | c.2543T>C (p.Phe848Ser) n.2754T>C c.2495T>C (p.Phe832Ser) c.2492T>C (p.Phe831Ser) c.803T>C (p.Phe268Ser) | |
1 | g.99884448T>G | CA341321447 | AGL | c.2543T>G (p.Phe848Cys) n.2754T>G c.2495T>G (p.Phe832Cys) c.2492T>G (p.Phe831Cys) c.803T>G (p.Phe268Cys) | |
1 | g.99884449C>A | CA341321451 | AGL | c.2544C>A (p.Phe848Leu) n.2755C>A c.2496C>A (p.Phe832Leu) c.2493C>A (p.Phe831Leu) c.804C>A (p.Phe268Leu) | |
1 | g.99884449C>G | CA341321449 | AGL | c.2544C>G (p.Phe848Leu) n.2755C>G c.2496C>G (p.Phe832Leu) c.2493C>G (p.Phe831Leu) c.804C>G (p.Phe268Leu) | |
1 | g.99884449C>T | CA419314344 | AGL | c.2544C>T (p.Phe848=) n.2755C>T c.2496C>T (p.Phe832=) c.2493C>T (p.Phe831=) c.804C>T (p.Phe268=) | |
1 | g.99884450A= | CA1143597374 | AGL | c.2545A= (p.Arg849=) n.2756A= c.2497A= (p.Arg833=) c.2494A= (p.Arg832=) c.805A= (p.Arg269=) | |
1 | g.99884450A>C | CA419314346 | AGL | c.2545A>C (p.Arg849=) n.2756A>C c.2497A>C (p.Arg833=) c.2494A>C (p.Arg832=) c.805A>C (p.Arg269=) | |
1 | g.99884450A>G | CA966810 | AGL | c.2545A>G (p.Arg849Gly) n.2756A>G c.2497A>G (p.Arg833Gly) c.2494A>G (p.Arg832Gly) c.805A>G (p.Arg269Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884450A>T | CA341321453 | AGL | c.2545A>T (p.Arg849Ter) n.2756A>T c.2497A>T (p.Arg833Ter) c.2494A>T (p.Arg832Ter) c.805A>T (p.Arg269Ter) | |
1 | g.99884451G>A | CA341321455 | AGL | c.2546G>A (p.Arg849Lys) n.2757G>A c.2498G>A (p.Arg833Lys) c.2495G>A (p.Arg832Lys) c.806G>A (p.Arg269Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884451G>C | CA341321457 | AGL | c.2546G>C (p.Arg849Thr) n.2757G>C c.2498G>C (p.Arg833Thr) c.2495G>C (p.Arg832Thr) c.806G>C (p.Arg269Thr) | |
1 | g.99884451G= | CA1183930586 | AGL | c.2546G= (p.Arg849=) n.2757G= c.2498G= (p.Arg833=) c.2495G= (p.Arg832=) c.806G= (p.Arg269=) | |
1 | g.99884451G>T | CA341321459 | AGL | c.2546G>T (p.Arg849Ile) n.2757G>T c.2498G>T (p.Arg833Ile) c.2495G>T (p.Arg832Ile) c.806G>T (p.Arg269Ile) | |
1 | g.99884452G>A | CA341321461 | AGL | c.2546+1G>A (n.2546+1G>A) n.2757+1G>A c.2498+1G>A (n.2498+1G>A) c.2495+1G>A (n.2495+1G>A) c.806+1G>A (n.806+1G>A) | ClinVar dbSNP |
1 | g.99884452G>C | CA341321463 | AGL | c.2546+1G>C (n.2546+1G>C) n.2757+1G>C c.2498+1G>C (n.2498+1G>C) c.2495+1G>C (n.2495+1G>C) c.806+1G>C (n.806+1G>C) | |
1 | g.99884452G= | CA1183930587 | AGL | c.2546+1G= (n.2546+1G=) n.2757+1G= c.2498+1G= (n.2498+1G=) c.2495+1G= (n.2495+1G=) c.806+1G= (n.806+1G=) | |
1 | g.99884452G>T | CA341321465 | AGL | c.2546+1G>T (n.2546+1G>T) n.2757+1G>T c.2498+1G>T (n.2498+1G>T) c.2495+1G>T (n.2495+1G>T) c.806+1G>T (n.806+1G>T) | ClinVar |
1 | g.99884453del | CA2744755774 | AGL | c.2546+2del (n.2546+2del) n.2757+2del c.2498+2del (n.2498+2del) c.2495+2del (n.2495+2del) c.806+2del (n.806+2del) | |
1 | g.99884453T>A | CA341321467 | AGL | c.2546+2T>A (n.2546+2T>A) n.2757+2T>A c.2498+2T>A (n.2498+2T>A) c.2495+2T>A (n.2495+2T>A) c.806+2T>A (n.806+2T>A) | |
1 | g.99884453T>C | CA341321469 | AGL | c.2546+2T>C (n.2546+2T>C) n.2757+2T>C c.2498+2T>C (n.2498+2T>C) c.2495+2T>C (n.2495+2T>C) c.806+2T>C (n.806+2T>C) | COSMIC COSMIC |
1 | g.99884453T>G | CA341321471 | AGL | c.2546+2T>G (n.2546+2T>G) n.2757+2T>G c.2498+2T>G (n.2498+2T>G) c.2495+2T>G (n.2495+2T>G) c.806+2T>G (n.806+2T>G) | |
1 | g.99884454A= | CA1148717831 | AGL | c.2546+3A= (n.2546+3A=) n.2757+3A= c.2498+3A= (n.2498+3A=) c.2495+3A= (n.2495+3A=) c.806+3A= (n.806+3A=) | |
1 | g.99884454A>G | CA966811 | AGL | c.2546+3A>G (n.2546+3A>G) n.2757+3A>G c.2498+3A>G (n.2498+3A>G) c.2495+3A>G (n.2495+3A>G) c.806+3A>G (n.806+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884455T>A | CA2646737273 | AGL | c.2546+4T>A (n.2546+4T>A) n.2757+4T>A c.2498+4T>A (n.2498+4T>A) c.2495+4T>A (n.2495+4T>A) c.806+4T>A (n.806+4T>A) | gnomAD v4 |
1 | g.99884455T>G | CA2574444383 | AGL | c.2546+4T>G (n.2546+4T>G) n.2757+4T>G c.2498+4T>G (n.2498+4T>G) c.2495+4T>G (n.2495+4T>G) c.806+4T>G (n.806+4T>G) | gnomAD v4 |
1 | g.99884456G>A | CA2646737274 | AGL | c.2546+5G>A (n.2546+5G>A) n.2757+5G>A c.2498+5G>A (n.2498+5G>A) c.2495+5G>A (n.2495+5G>A) c.806+5G>A (n.806+5G>A) | ClinVar gnomAD v4 |
1 | g.99884457T>G | CA2646737275 | AGL | c.2546+6T>G (n.2546+6T>G) n.2757+6T>G c.2498+6T>G (n.2498+6T>G) c.2495+6T>G (n.2495+6T>G) c.806+6T>G (n.806+6T>G) | gnomAD v4 |
1 | g.99884458del | CA2744755775 | AGL | c.2546+7del (n.2546+7del) n.2757+7del c.2498+7del (n.2498+7del) c.2495+7del (n.2495+7del) c.806+7del (n.806+7del) | |
1 | g.99884458T>C | CA2744755776 | AGL | c.2546+7T>C (n.2546+7T>C) n.2757+7T>C c.2498+7T>C (n.2498+7T>C) c.2495+7T>C (n.2495+7T>C) c.806+7T>C (n.806+7T>C) | |
1 | g.99884459A>T | CA2744755777 | AGL | c.2546+8A>T (n.2546+8A>T) n.2757+8A>T c.2498+8A>T (n.2498+8A>T) c.2495+8A>T (n.2495+8A>T) c.806+8A>T (n.806+8A>T) | |
1 | g.99884460A= | CA1145297942 | AGL | c.2546+9A= (n.2546+9A=) n.2757+9A= c.2498+9A= (n.2498+9A=) c.2495+9A= (n.2495+9A=) c.806+9A= (n.806+9A=) | |
1 | g.99884460A>G | CA966812 | AGL | c.2546+9A>G (n.2546+9A>G) n.2757+9A>G c.2498+9A>G (n.2498+9A>G) c.2495+9A>G (n.2495+9A>G) c.806+9A>G (n.806+9A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884461T>C | CA966813 | AGL | c.2546+10T>C (n.2546+10T>C) n.2757+10T>C c.2498+10T>C (n.2498+10T>C) c.2495+10T>C (n.2495+10T>C) c.806+10T>C (n.806+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884461T= | CA1140898651 | AGL | c.2546+10T= (n.2546+10T=) n.2757+10T= c.2498+10T= (n.2498+10T=) c.2495+10T= (n.2495+10T=) c.806+10T= (n.806+10T=) | |
1 | g.99884462T>G | CA1183930589 | AGL | c.2546+11T>G (n.2546+11T>G) n.2757+11T>G c.2498+11T>G (n.2498+11T>G) c.2495+11T>G (n.2495+11T>G) c.806+11T>G (n.806+11T>G) | dbSNP gnomAD v4 |
1 | g.99884462T= | CA1183930588 | AGL | c.2546+11T= (n.2546+11T=) n.2757+11T= c.2498+11T= (n.2498+11T=) c.2495+11T= (n.2495+11T=) c.806+11T= (n.806+11T=) | |
1 | g.99884465G>A | CA2646737276 | AGL | c.2546+14G>A (n.2546+14G>A) n.2757+14G>A c.2498+14G>A (n.2498+14G>A) c.2495+14G>A (n.2495+14G>A) c.806+14G>A (n.806+14G>A) | gnomAD v4 |
1 | g.99884465G>C | CA524878255 | AGL | c.2546+14G>C (n.2546+14G>C) n.2757+14G>C c.2498+14G>C (n.2498+14G>C) c.2495+14G>C (n.2495+14G>C) c.806+14G>C (n.806+14G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884465G= | CA1183930590 | AGL | c.2546+14G= (n.2546+14G=) n.2757+14G= c.2498+14G= (n.2498+14G=) c.2495+14G= (n.2495+14G=) c.806+14G= (n.806+14G=) | |
1 | g.99884468C>A | CA2646737277 | AGL | c.2546+17C>A (n.2546+17C>A) n.2757+17C>A c.2498+17C>A (n.2498+17C>A) c.2495+17C>A (n.2495+17C>A) c.806+17C>A (n.806+17C>A) | gnomAD v4 |
1 | g.99884469A>G | CA2646737278 | AGL | c.2546+18A>G (n.2546+18A>G) n.2757+18A>G c.2498+18A>G (n.2498+18A>G) c.2495+18A>G (n.2495+18A>G) c.806+18A>G (n.806+18A>G) | ClinVar gnomAD v4 |
1 | g.99884470A= | CA1183930591 | AGL | c.2546+19A= (n.2546+19A=) n.2757+19A= c.2498+19A= (n.2498+19A=) c.2495+19A= (n.2495+19A=) c.806+19A= (n.806+19A=) | |
1 | g.99884470A>G | CA524878256 | AGL | c.2546+19A>G (n.2546+19A>G) n.2757+19A>G c.2498+19A>G (n.2498+19A>G) c.2495+19A>G (n.2495+19A>G) c.806+19A>G (n.806+19A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884471A>T | CA2696507693 | AGL | c.2546+20A>T (n.2546+20A>T) n.2757+20A>T c.2498+20A>T (n.2498+20A>T) c.2495+20A>T (n.2495+20A>T) c.806+20A>T (n.806+20A>T) | dbSNP |
1 | g.99884472C= | CA1183930592 | AGL | c.2546+21C= (n.2546+21C=) n.2757+21C= c.2498+21C= (n.2498+21C=) c.2495+21C= (n.2495+21C=) c.806+21C= (n.806+21C=) | |
1 | g.99884472C>G | CA524878257 | AGL | c.2546+21C>G (n.2546+21C>G) n.2757+21C>G c.2498+21C>G (n.2498+21C>G) c.2495+21C>G (n.2495+21C>G) c.806+21C>G (n.806+21C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884473T>C | CA524878258 | AGL | c.2546+22T>C (n.2546+22T>C) n.2757+22T>C c.2498+22T>C (n.2498+22T>C) c.2495+22T>C (n.2495+22T>C) c.806+22T>C (n.806+22T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884473T= | CA1183930593 | AGL | c.2546+22T= (n.2546+22T=) n.2757+22T= c.2498+22T= (n.2498+22T=) c.2495+22T= (n.2495+22T=) c.806+22T= (n.806+22T=) | |
1 | g.99884474G>A | CA741035403 | AGL | c.2546+23G>A (n.2546+23G>A) n.2757+23G>A c.2498+23G>A (n.2498+23G>A) c.2495+23G>A (n.2495+23G>A) c.806+23G>A (n.806+23G>A) | dbSNP |
1 | g.99884474G= | CA1183930594 | AGL | c.2546+23G= (n.2546+23G=) n.2757+23G= c.2498+23G= (n.2498+23G=) c.2495+23G= (n.2495+23G=) c.806+23G= (n.806+23G=) | |
1 | g.99884477G>T | CA2519779416 | AGL | c.2546+26G>T (n.2546+26G>T) n.2757+26G>T c.2498+26G>T (n.2498+26G>T) c.2495+26G>T (n.2495+26G>T) c.806+26G>T (n.806+26G>T) | |
1 | g.99884478A= | CA1183930595 | AGL | c.2546+27A= (n.2546+27A=) n.2757+27A= c.2498+27A= (n.2498+27A=) c.2495+27A= (n.2495+27A=) c.806+27A= (n.806+27A=) | |
1 | g.99884478A>C | CA741035409 | AGL | c.2546+27A>C (n.2546+27A>C) n.2757+27A>C c.2498+27A>C (n.2498+27A>C) c.2495+27A>C (n.2495+27A>C) c.806+27A>C (n.806+27A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99884478A>G | CA966814 | AGL | c.2546+27A>G (n.2546+27A>G) n.2757+27A>G c.2498+27A>G (n.2498+27A>G) c.2495+27A>G (n.2495+27A>G) c.806+27A>G (n.806+27A>G) | dbSNP ExAC gnomAD v2 |
1 | g.99884478_99884508dup | CA2646737279 | AGL | c.2546+27_2546+57dup (n.2546+27_2546+57dup) n.2757+27_2757+57dup c.2498+27_2498+57dup (n.2498+27_2498+57dup) c.2495+27_2495+57dup (n.2495+27_2495+57dup) c.806+27_806+57dup (n.806+27_806+57dup) | gnomAD v4 |
1 | g.99884479C>A | CA2646737280 | AGL | c.2546+28C>A (n.2546+28C>A) n.2757+28C>A c.2498+28C>A (n.2498+28C>A) c.2495+28C>A (n.2495+28C>A) c.806+28C>A (n.806+28C>A) | gnomAD v4 |
1 | g.99884479C= | CA1183930596 | AGL | c.2546+28C= (n.2546+28C=) n.2757+28C= c.2498+28C= (n.2498+28C=) c.2495+28C= (n.2495+28C=) c.806+28C= (n.806+28C=) | |
1 | g.99884479C>G | CA2574444387 | AGL | c.2546+28C>G (n.2546+28C>G) n.2757+28C>G c.2498+28C>G (n.2498+28C>G) c.2495+28C>G (n.2495+28C>G) c.806+28C>G (n.806+28C>G) | |
1 | g.99884479C>T | CA1004936280 | AGL | c.2546+28C>T (n.2546+28C>T) n.2757+28C>T c.2498+28C>T (n.2498+28C>T) c.2495+28C>T (n.2495+28C>T) c.806+28C>T (n.806+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99884482T>C | CA27519270 | AGL | c.2546+31T>C (n.2546+31T>C) n.2757+31T>C c.2498+31T>C (n.2498+31T>C) c.2495+31T>C (n.2495+31T>C) c.806+31T>C (n.806+31T>C) | dbSNP |
1 | g.99884482T>G | CA966815 | AGL | c.2546+31T>G (n.2546+31T>G) n.2757+31T>G c.2498+31T>G (n.2498+31T>G) c.2495+31T>G (n.2495+31T>G) c.806+31T>G (n.806+31T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884482T= | CA1144030175 | AGL | c.2546+31T= (n.2546+31T=) n.2757+31T= c.2498+31T= (n.2498+31T=) c.2495+31T= (n.2495+31T=) c.806+31T= (n.806+31T=) | |
1 | g.99884483_99884484insTAT | CA2646737281 | AGL | c.2546+32_2546+33insTAT (n.2546+32_2546+33insTAT) n.2757+32_2757+33insTAT c.2498+32_2498+33insTAT (n.2498+32_2498+33insTAT) c.2495+32_2495+33insTAT (n.2495+32_2495+33insTAT) c.806+32_806+33insTAT (n.806+32_806+33insTAT) | gnomAD v4 |
1 | g.99884483_99884484insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT | CA966816 | AGL | c.2546+32_2546+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT (n.2546+32_2546+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT) n.2757+32_2757+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT c.2498+32_2498+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT (n.2498+32_2498+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT) c.2495+32_2495+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT (n.2495+32_2495+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT) c.806+32_806+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT (n.806+32_806+33insTATTTTATATTTAAATATAAATATATTTATATTTATATTTAAATATATTTATATTTAAATATAT) | ExAC gnomAD v2 |
1 | g.99884484C= | CA1183930597 | AGL | c.2546+33C= (n.2546+33C=) n.2757+33C= c.2498+33C= (n.2498+33C=) c.2495+33C= (n.2495+33C=) c.806+33C= (n.806+33C=) | |
1 | g.99884484C>G | CA1183930598 | AGL | c.2546+33C>G (n.2546+33C>G) n.2757+33C>G c.2498+33C>G (n.2498+33C>G) c.2495+33C>G (n.2495+33C>G) c.806+33C>G (n.806+33C>G) | dbSNP |
1 | g.99884484C>T | CA966817 | AGL | c.2546+33C>T (n.2546+33C>T) n.2757+33C>T c.2498+33C>T (n.2498+33C>T) c.2495+33C>T (n.2495+33C>T) c.806+33C>T (n.806+33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884486T= | CA1183930599 | AGL | c.2546+35T= (n.2546+35T=) n.2757+35T= c.2498+35T= (n.2498+35T=) c.2495+35T= (n.2495+35T=) c.806+35T= (n.806+35T=) | |
1 | g.99884487A= | CA1183930600 | AGL | c.2546+36A= (n.2546+36A=) n.2757+36A= c.2498+36A= (n.2498+36A=) c.2495+36A= (n.2495+36A=) c.806+36A= (n.806+36A=) | |
1 | g.99884487A>G | CA27519294 | AGL | c.2546+36A>G (n.2546+36A>G) n.2757+36A>G c.2498+36A>G (n.2498+36A>G) c.2495+36A>G (n.2495+36A>G) c.806+36A>G (n.806+36A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884487dup | CA966818 | AGL | c.2546+36dup (n.2546+36dup) n.2757+36dup c.2498+36dup (n.2498+36dup) c.2495+36dup (n.2495+36dup) c.806+36dup (n.806+36dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884490T>G | CA2646737282 | AGL | c.2546+39T>G (n.2546+39T>G) n.2757+39T>G c.2498+39T>G (n.2498+39T>G) c.2495+39T>G (n.2495+39T>G) c.806+39T>G (n.806+39T>G) | gnomAD v4 |
1 | g.99884491T>G | CA966819 | AGL | c.2546+40T>G (n.2546+40T>G) n.2757+40T>G c.2498+40T>G (n.2498+40T>G) c.2495+40T>G (n.2495+40T>G) c.806+40T>G (n.806+40T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99884491T= | CA1183930601 | AGL | c.2546+40T= (n.2546+40T=) n.2757+40T= c.2498+40T= (n.2498+40T=) c.2495+40T= (n.2495+40T=) c.806+40T= (n.806+40T=) | |
1 | g.99884496del | CA2646737283 | AGL | c.2546+45del (n.2546+45del) n.2757+45del c.2498+45del (n.2498+45del) c.2495+45del (n.2495+45del) c.806+45del (n.806+45del) | gnomAD v4 |
1 | g.99884495A= | CA1183930602 | AGL | c.2546+44A= (n.2546+44A=) n.2757+44A= c.2498+44A= (n.2498+44A=) c.2495+44A= (n.2495+44A=) c.806+44A= (n.806+44A=) | |
1 | g.99884495A>C | CA2515047592 | AGL | c.2546+44A>C (n.2546+44A>C) n.2757+44A>C c.2498+44A>C (n.2498+44A>C) c.2495+44A>C (n.2495+44A>C) c.806+44A>C (n.806+44A>C) | |
1 | g.99884495A>T | CA966820 | AGL | c.2546+44A>T (n.2546+44A>T) n.2757+44A>T c.2498+44A>T (n.2498+44A>T) c.2495+44A>T (n.2495+44A>T) c.806+44A>T (n.806+44A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99884496A= | CA1183930603 | AGL | c.2546+45A= (n.2546+45A=) n.2757+45A= c.2498+45A= (n.2498+45A=) c.2495+45A= (n.2495+45A=) c.806+45A= (n.806+45A=) | |
1 | g.99884496A>G | CA524878259 | AGL | c.2546+45A>G (n.2546+45A>G) n.2757+45A>G c.2498+45A>G (n.2498+45A>G) c.2495+45A>G (n.2495+45A>G) c.806+45A>G (n.806+45A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884498A>T | CA2696507719 | AGL | c.2546+47A>T (n.2546+47A>T) n.2757+47A>T c.2498+47A>T (n.2498+47A>T) c.2495+47A>T (n.2495+47A>T) c.806+47A>T (n.806+47A>T) | dbSNP |
1 | g.99884498_99884499delinsAG | CA1183930604 | AGL | c.2546+47_2546+48delinsAG (n.2546+47_2546+48delinsAG) n.2757+47_2757+48delinsAG c.2498+47_2498+48delinsAG (n.2498+47_2498+48delinsAG) c.2495+47_2495+48delinsAG (n.2495+47_2495+48delinsAG) c.806+47_806+48delinsAG (n.806+47_806+48delinsAG) | |
1 | g.99884499del | CA524878260 | AGL | c.2546+48del (n.2546+48del) n.2757+48del c.2498+48del (n.2498+48del) c.2495+48del (n.2495+48del) c.806+48del (n.806+48del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884500T>C | CA524878261 | AGL | c.2546+49T>C (n.2546+49T>C) n.2757+49T>C c.2498+49T>C (n.2498+49T>C) c.2495+49T>C (n.2495+49T>C) c.806+49T>C (n.806+49T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99884500T= | CA1183930605 | AGL | c.2546+49T= (n.2546+49T=) n.2757+49T= c.2498+49T= (n.2498+49T=) c.2495+49T= (n.2495+49T=) c.806+49T= (n.806+49T=) | |
1 | g.99884502T>A | CA2546646585 | AGL | c.2546+51T>A (n.2546+51T>A) n.2757+51T>A c.2498+51T>A (n.2498+51T>A) c.2495+51T>A (n.2495+51T>A) c.806+51T>A (n.806+51T>A) | |
1 | g.99884502T>C | CA741035432 | AGL | c.2546+51T>C (n.2546+51T>C) n.2757+51T>C c.2498+51T>C (n.2498+51T>C) c.2495+51T>C (n.2495+51T>C) c.806+51T>C (n.806+51T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.99884502T= | CA1183930606 | AGL | c.2546+51T= (n.2546+51T=) n.2757+51T= c.2498+51T= (n.2498+51T=) c.2495+51T= (n.2495+51T=) c.806+51T= (n.806+51T=) | |
1 | g.99884503G>A | CA2646737284 | AGL | c.2546+52G>A (n.2546+52G>A) n.2757+52G>A c.2498+52G>A (n.2498+52G>A) c.2495+52G>A (n.2495+52G>A) c.806+52G>A (n.806+52G>A) | gnomAD v4 |
1 | g.99884503G>T | CA645732638 | AGL | c.2546+52G>T (n.2546+52G>T) n.2757+52G>T c.2498+52G>T (n.2498+52G>T) c.2495+52G>T (n.2495+52G>T) c.806+52G>T (n.806+52G>T) | COSMIC |
1 | g.99884504C>T | CA2646737285 | AGL | c.2546+53C>T (n.2546+53C>T) n.2757+53C>T c.2498+53C>T (n.2498+53C>T) c.2495+53C>T (n.2495+53C>T) c.806+53C>T (n.806+53C>T) | gnomAD v4 |
1 | g.99884505A= | CA1183930607 | AGL | c.2546+54A= (n.2546+54A=) n.2757+54A= c.2498+54A= (n.2498+54A=) c.2495+54A= (n.2495+54A=) c.806+54A= (n.806+54A=) | |
1 | g.99884505A>C | CA27519321 | AGL | c.2546+54A>C (n.2546+54A>C) n.2757+54A>C c.2498+54A>C (n.2498+54A>C) c.2495+54A>C (n.2495+54A>C) c.806+54A>C (n.806+54A>C) | dbSNP gnomAD v4 |
1 | g.99884505A>G | CA645732648 | AGL | c.2546+54A>G (n.2546+54A>G) n.2757+54A>G c.2498+54A>G (n.2498+54A>G) c.2495+54A>G (n.2495+54A>G) c.806+54A>G (n.806+54A>G) | dbSNP gnomAD v4 COSMIC |