| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15644622A= | CA1347664117 | BTD | c.706A= (p.Arg236=) c.399+2565A= (n.399+2565A=) c.165+2565A= (n.165+2565A=) c.766A= (p.Arg256=) c.772A= (p.Arg258=) c.484A= (p.Arg162=) c.*2484A= (n.*2484A=) | |
| 3 | g.15644622A>C | CA432819309 | BTD | c.706A>C (p.Arg236=) c.399+2565A>C (n.399+2565A>C) c.165+2565A>C (n.165+2565A>C) c.766A>C (p.Arg256=) c.772A>C (p.Arg258=) c.484A>C (p.Arg162=) c.*2484A>C (n.*2484A>C) | |
| 3 | g.15644622A>G | CA351607145 | BTD | c.706A>G (p.Arg236Gly) c.399+2565A>G (n.399+2565A>G) c.165+2565A>G (n.165+2565A>G) c.766A>G (p.Arg256Gly) c.772A>G (p.Arg258Gly) c.484A>G (p.Arg162Gly) c.*2484A>G (n.*2484A>G) | dbSNP gnomAD v2 |
| 3 | g.15644622A>T | CA351607147 | BTD | c.706A>T (p.Arg236Ter) c.399+2565A>T (n.399+2565A>T) c.165+2565A>T (n.165+2565A>T) c.766A>T (p.Arg256Ter) c.772A>T (p.Arg258Ter) c.484A>T (p.Arg162Ter) c.*2484A>T (n.*2484A>T) | |
| 3 | g.15644623G>A | CA351607148 | BTD | c.707G>A (p.Arg236Lys) c.399+2566G>A (n.399+2566G>A) c.165+2566G>A (n.165+2566G>A) c.767G>A (p.Arg256Lys) c.773G>A (p.Arg258Lys) c.485G>A (p.Arg162Lys) c.*2485G>A (n.*2485G>A) | |
| 3 | g.15644623G>C | CA351607150 | BTD | c.707G>C (p.Arg236Thr) c.399+2566G>C (n.399+2566G>C) c.165+2566G>C (n.165+2566G>C) c.767G>C (p.Arg256Thr) c.773G>C (p.Arg258Thr) c.485G>C (p.Arg162Thr) c.*2485G>C (n.*2485G>C) | |
| 3 | g.15644623G>T | CA351607152 | BTD | c.707G>T (p.Arg236Ile) c.399+2566G>T (n.399+2566G>T) c.165+2566G>T (n.165+2566G>T) c.767G>T (p.Arg256Ile) c.773G>T (p.Arg258Ile) c.485G>T (p.Arg162Ile) c.*2485G>T (n.*2485G>T) | |
| 3 | g.15644624A>C | CA351607156 | BTD | c.708A>C (p.Arg236Ser) c.399+2567A>C (n.399+2567A>C) c.165+2567A>C (n.165+2567A>C) c.768A>C (p.Arg256Ser) c.774A>C (p.Arg258Ser) c.486A>C (p.Arg162Ser) c.*2486A>C (n.*2486A>C) | |
| 3 | g.15644624A>G | CA432819316 | BTD | c.708A>G (p.Arg236=) c.399+2567A>G (n.399+2567A>G) c.165+2567A>G (n.165+2567A>G) c.768A>G (p.Arg256=) c.774A>G (p.Arg258=) c.486A>G (p.Arg162=) c.*2486A>G (n.*2486A>G) | |
| 3 | g.15644624A>T | CA351607154 | BTD | c.708A>T (p.Arg236Ser) c.399+2567A>T (n.399+2567A>T) c.165+2567A>T (n.165+2567A>T) c.768A>T (p.Arg256Ser) c.774A>T (p.Arg258Ser) c.486A>T (p.Arg162Ser) c.*2486A>T (n.*2486A>T) | |
| 3 | g.15644625G>A | CA351607162 | BTD | c.709G>A (p.Val237Ile) c.399+2568G>A (n.399+2568G>A) c.165+2568G>A (n.165+2568G>A) c.769G>A (p.Val257Ile) c.775G>A (p.Val259Ile) c.487G>A (p.Val163Ile) c.*2487G>A (n.*2487G>A) | |
| 3 | g.15644625G>C | CA351607164 | BTD | c.709G>C (p.Val237Leu) c.399+2568G>C (n.399+2568G>C) c.165+2568G>C (n.165+2568G>C) c.769G>C (p.Val257Leu) c.775G>C (p.Val259Leu) c.487G>C (p.Val163Leu) c.*2487G>C (n.*2487G>C) | |
| 3 | g.15644625G>T | CA351607165 | BTD | c.709G>T (p.Val237Phe) c.399+2568G>T (n.399+2568G>T) c.165+2568G>T (n.165+2568G>T) c.769G>T (p.Val257Phe) c.775G>T (p.Val259Phe) c.487G>T (p.Val163Phe) c.*2487G>T (n.*2487G>T) | gnomAD v4 |
| 3 | g.15644626T>A | CA351607167 | BTD | c.710T>A (p.Val237Asp) c.399+2569T>A (n.399+2569T>A) c.165+2569T>A (n.165+2569T>A) c.770T>A (p.Val257Asp) c.776T>A (p.Val259Asp) c.488T>A (p.Val163Asp) c.*2488T>A (n.*2488T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644626T>C | CA351607170 | BTD | c.710T>C (p.Val237Ala) c.399+2569T>C (n.399+2569T>C) c.165+2569T>C (n.165+2569T>C) c.770T>C (p.Val257Ala) c.776T>C (p.Val259Ala) c.488T>C (p.Val163Ala) c.*2488T>C (n.*2488T>C) | |
| 3 | g.15644626T>G | CA351607172 | BTD | c.710T>G (p.Val237Gly) c.399+2569T>G (n.399+2569T>G) c.165+2569T>G (n.165+2569T>G) c.770T>G (p.Val257Gly) c.776T>G (p.Val259Gly) c.488T>G (p.Val163Gly) c.*2488T>G (n.*2488T>G) | |
| 3 | g.15644626T= | CA1347664120 | BTD | c.710T= (p.Val237=) c.399+2569T= (n.399+2569T=) c.165+2569T= (n.165+2569T=) c.770T= (p.Val257=) c.776T= (p.Val259=) c.488T= (p.Val163=) c.*2488T= (n.*2488T=) | |
| 3 | g.15644627C>A | CA432819325 | BTD | c.711C>A (p.Val237=) c.399+2570C>A (n.399+2570C>A) c.165+2570C>A (n.165+2570C>A) c.771C>A (p.Val257=) c.777C>A (p.Val259=) c.489C>A (p.Val163=) c.*2489C>A (n.*2489C>A) | |
| 3 | g.15644627C>G | CA432819324 | BTD | c.711C>G (p.Val237=) c.399+2570C>G (n.399+2570C>G) c.165+2570C>G (n.165+2570C>G) c.771C>G (p.Val257=) c.777C>G (p.Val259=) c.489C>G (p.Val163=) c.*2489C>G (n.*2489C>G) | |
| 3 | g.15644627C>T | CA432819323 | BTD | c.711C>T (p.Val237=) c.399+2570C>T (n.399+2570C>T) c.165+2570C>T (n.165+2570C>T) c.771C>T (p.Val257=) c.777C>T (p.Val259=) c.489C>T (p.Val163=) c.*2489C>T (n.*2489C>T) | ClinVar |
| 3 | g.15644628C>A | CA351607174 | BTD | c.712C>A (p.Leu238Ile) c.399+2571C>A (n.399+2571C>A) c.165+2571C>A (n.165+2571C>A) c.772C>A (p.Leu258Ile) c.778C>A (p.Leu260Ile) c.490C>A (p.Leu164Ile) c.*2490C>A (n.*2490C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644628C= | CA1347664125 | BTD | c.712C= (p.Leu238=) c.399+2571C= (n.399+2571C=) c.165+2571C= (n.165+2571C=) c.772C= (p.Leu258=) c.778C= (p.Leu260=) c.490C= (p.Leu164=) c.*2490C= (n.*2490C=) | |
| 3 | g.15644628C>G | CA351607176 | BTD | c.712C>G (p.Leu238Val) c.399+2571C>G (n.399+2571C>G) c.165+2571C>G (n.165+2571C>G) c.772C>G (p.Leu258Val) c.778C>G (p.Leu260Val) c.490C>G (p.Leu164Val) c.*2490C>G (n.*2490C>G) | |
| 3 | g.15644628C>T | CA351607178 | BTD | c.712C>T (p.Leu238Phe) c.399+2571C>T (n.399+2571C>T) c.165+2571C>T (n.165+2571C>T) c.772C>T (p.Leu258Phe) c.778C>T (p.Leu260Phe) c.490C>T (p.Leu164Phe) c.*2490C>T (n.*2490C>T) | |
| 3 | g.15644629T>A | CA351607181 | BTD | c.713T>A (p.Leu238His) c.399+2572T>A (n.399+2572T>A) c.165+2572T>A (n.165+2572T>A) c.773T>A (p.Leu258His) c.779T>A (p.Leu260His) c.491T>A (p.Leu164His) c.*2491T>A (n.*2491T>A) | |
| 3 | g.15644629T>C | CA351607183 | BTD | c.713T>C (p.Leu238Pro) c.399+2572T>C (n.399+2572T>C) c.165+2572T>C (n.165+2572T>C) c.773T>C (p.Leu258Pro) c.779T>C (p.Leu260Pro) c.491T>C (p.Leu164Pro) c.*2491T>C (n.*2491T>C) | |
| 3 | g.15644629T>G | CA351607185 | BTD | c.713T>G (p.Leu238Arg) c.399+2572T>G (n.399+2572T>G) c.165+2572T>G (n.165+2572T>G) c.773T>G (p.Leu258Arg) c.779T>G (p.Leu260Arg) c.491T>G (p.Leu164Arg) c.*2491T>G (n.*2491T>G) | |
| 3 | g.15644630C>A | CA432819332 | BTD | c.714C>A (p.Leu238=) c.399+2573C>A (n.399+2573C>A) c.165+2573C>A (n.165+2573C>A) c.774C>A (p.Leu258=) c.780C>A (p.Leu260=) c.492C>A (p.Leu164=) c.*2492C>A (n.*2492C>A) | |
| 3 | g.15644630C>G | CA432819334 | BTD | c.714C>G (p.Leu238=) c.399+2573C>G (n.399+2573C>G) c.165+2573C>G (n.165+2573C>G) c.774C>G (p.Leu258=) c.780C>G (p.Leu260=) c.492C>G (p.Leu164=) c.*2492C>G (n.*2492C>G) | |
| 3 | g.15644630C>T | CA432819335 | BTD | c.714C>T (p.Leu238=) c.399+2573C>T (n.399+2573C>T) c.165+2573C>T (n.165+2573C>T) c.774C>T (p.Leu258=) c.780C>T (p.Leu260=) c.492C>T (p.Leu164=) c.*2492C>T (n.*2492C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644631A>C | CA432819336 | BTD | c.715A>C (p.Arg239=) c.399+2574A>C (n.399+2574A>C) c.165+2574A>C (n.165+2574A>C) c.775A>C (p.Arg259=) c.781A>C (p.Arg261=) c.493A>C (p.Arg165=) c.*2493A>C (n.*2493A>C) | |
| 3 | g.15644631A>G | CA351607188 | BTD | c.715A>G (p.Arg239Gly) c.399+2574A>G (n.399+2574A>G) c.165+2574A>G (n.165+2574A>G) c.775A>G (p.Arg259Gly) c.781A>G (p.Arg261Gly) c.493A>G (p.Arg165Gly) c.*2493A>G (n.*2493A>G) | |
| 3 | g.15644631A>T | CA351607190 | BTD | c.715A>T (p.Arg239Ter) c.399+2574A>T (n.399+2574A>T) c.165+2574A>T (n.165+2574A>T) c.775A>T (p.Arg259Ter) c.781A>T (p.Arg261Ter) c.493A>T (p.Arg165Ter) c.*2493A>T (n.*2493A>T) | |
| 3 | g.15644632G>A | CA2277374 | BTD | c.716G>A (p.Arg239Lys) c.399+2575G>A (n.399+2575G>A) c.165+2575G>A (n.165+2575G>A) c.776G>A (p.Arg259Lys) c.782G>A (p.Arg261Lys) c.494G>A (p.Arg165Lys) c.*2494G>A (n.*2494G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644632G>C | CA351607192 | BTD | c.716G>C (p.Arg239Thr) c.399+2575G>C (n.399+2575G>C) c.165+2575G>C (n.165+2575G>C) c.776G>C (p.Arg259Thr) c.782G>C (p.Arg261Thr) c.494G>C (p.Arg165Thr) c.*2494G>C (n.*2494G>C) | |
| 3 | g.15644632G= | CA1347664130 | BTD | c.716G= (p.Arg239=) c.399+2575G= (n.399+2575G=) c.165+2575G= (n.165+2575G=) c.776G= (p.Arg259=) c.782G= (p.Arg261=) c.494G= (p.Arg165=) c.*2494G= (n.*2494G=) | |
| 3 | g.15644632G>T | CA351607194 | BTD | c.716G>T (p.Arg239Ile) c.399+2575G>T (n.399+2575G>T) c.165+2575G>T (n.165+2575G>T) c.776G>T (p.Arg259Ile) c.782G>T (p.Arg261Ile) c.494G>T (p.Arg165Ile) c.*2494G>T (n.*2494G>T) | |
| 3 | g.15644633A>C | CA351607195 | BTD | c.717A>C (p.Arg239Ser) c.399+2576A>C (n.399+2576A>C) c.165+2576A>C (n.165+2576A>C) c.777A>C (p.Arg259Ser) c.783A>C (p.Arg261Ser) c.495A>C (p.Arg165Ser) c.*2495A>C (n.*2495A>C) | |
| 3 | g.15644633A>G | CA432819338 | BTD | c.717A>G (p.Arg239=) c.399+2576A>G (n.399+2576A>G) c.165+2576A>G (n.165+2576A>G) c.777A>G (p.Arg259=) c.783A>G (p.Arg261=) c.495A>G (p.Arg165=) c.*2495A>G (n.*2495A>G) | |
| 3 | g.15644633A>T | CA351607197 | BTD | c.717A>T (p.Arg239Ser) c.399+2576A>T (n.399+2576A>T) c.165+2576A>T (n.165+2576A>T) c.777A>T (p.Arg259Ser) c.783A>T (p.Arg261Ser) c.495A>T (p.Arg165Ser) c.*2495A>T (n.*2495A>T) | |
| 3 | g.15644634G>A | CA351607199 | BTD | c.718G>A (p.Asp240Asn) c.399+2577G>A (n.399+2577G>A) c.165+2577G>A (n.165+2577G>A) c.778G>A (p.Asp260Asn) c.784G>A (p.Asp262Asn) c.496G>A (p.Asp166Asn) c.*2496G>A (n.*2496G>A) | |
| 3 | g.15644634G>C | CA351607200 | BTD | c.718G>C (p.Asp240His) c.399+2577G>C (n.399+2577G>C) c.165+2577G>C (n.165+2577G>C) c.778G>C (p.Asp260His) c.784G>C (p.Asp262His) c.496G>C (p.Asp166His) c.*2496G>C (n.*2496G>C) | |
| 3 | g.15644634G>T | CA351607201 | BTD | c.718G>T (p.Asp240Tyr) c.399+2577G>T (n.399+2577G>T) c.165+2577G>T (n.165+2577G>T) c.778G>T (p.Asp260Tyr) c.784G>T (p.Asp262Tyr) c.496G>T (p.Asp166Tyr) c.*2496G>T (n.*2496G>T) | |
| 3 | g.15644634_15644637del | CA913102313 | BTD | c.718_721del (p.Asp240ThrfsTer3) c.399+2577_399+2580del (n.399+2577_399+2580del) c.165+2577_165+2580del (n.165+2577_165+2580del) c.778_781del (p.Asp260ThrfsTer3) c.784_787del (p.Asp262ThrfsTer3) c.496_499del (p.Asp166ThrfsTer3) c.*2496_*2499del (n.*2496_*2499del) | |
| 3 | g.15644634_15644637delinsGACT | CA1347664133 | BTD | c.718_721delinsGACT (p.Asp240=) c.399+2577_399+2580delinsGACT (n.399+2577_399+2580delinsGACT) c.165+2577_165+2580delinsGACT (n.165+2577_165+2580delinsGACT) c.778_781delinsGACT (p.Asp260=) c.784_787delinsGACT (p.Asp262=) c.496_499delinsGACT (p.Asp166=) c.*2496_*2499delinsGACT (n.*2496_*2499delinsGACT) | |
| 3 | g.15644635A= | CA1347664138 | BTD | c.719A= (p.Asp240=) c.399+2578A= (n.399+2578A=) c.165+2578A= (n.165+2578A=) c.779A= (p.Asp260=) c.785A= (p.Asp262=) c.497A= (p.Asp166=) c.*2497A= (n.*2497A=) | |
| 3 | g.15644635A>C | CA2277375 | BTD | c.719A>C (p.Asp240Ala) c.399+2578A>C (n.399+2578A>C) c.165+2578A>C (n.165+2578A>C) c.779A>C (p.Asp260Ala) c.785A>C (p.Asp262Ala) c.497A>C (p.Asp166Ala) c.*2497A>C (n.*2497A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644635A>G | CA351607202 | BTD | c.719A>G (p.Asp240Gly) c.399+2578A>G (n.399+2578A>G) c.165+2578A>G (n.165+2578A>G) c.779A>G (p.Asp260Gly) c.785A>G (p.Asp262Gly) c.497A>G (p.Asp166Gly) c.*2497A>G (n.*2497A>G) | |
| 3 | g.15644635A>T | CA351607203 | BTD | c.719A>T (p.Asp240Val) c.399+2578A>T (n.399+2578A>T) c.165+2578A>T (n.165+2578A>T) c.779A>T (p.Asp260Val) c.785A>T (p.Asp262Val) c.497A>T (p.Asp166Val) c.*2497A>T (n.*2497A>T) | |
| 3 | g.15644637_15644639del | CA658822117 | BTD | c.721_723del (p.Tyr241del) c.399+2580_399+2582del (n.399+2580_399+2582del) c.165+2580_165+2582del (n.165+2580_165+2582del) c.781_783del (p.Tyr261del) c.787_789del (p.Tyr263del) c.499_501del (p.Tyr167del) c.*2499_*2501del (n.*2499_*2501del) | ClinVar dbSNP |
| 3 | g.15644636C>A | CA351607204 | BTD | c.720C>A (p.Asp240Glu) c.399+2579C>A (n.399+2579C>A) c.165+2579C>A (n.165+2579C>A) c.780C>A (p.Asp260Glu) c.786C>A (p.Asp262Glu) c.498C>A (p.Asp166Glu) c.*2498C>A (n.*2498C>A) | |
| 3 | g.15644636C>G | CA351607205 | BTD | c.720C>G (p.Asp240Glu) c.399+2579C>G (n.399+2579C>G) c.165+2579C>G (n.165+2579C>G) c.780C>G (p.Asp260Glu) c.786C>G (p.Asp262Glu) c.498C>G (p.Asp166Glu) c.*2498C>G (n.*2498C>G) | |
| 3 | g.15644636C>T | CA432819342 | BTD | c.720C>T (p.Asp240=) c.399+2579C>T (n.399+2579C>T) c.165+2579C>T (n.165+2579C>T) c.780C>T (p.Asp260=) c.786C>T (p.Asp262=) c.498C>T (p.Asp166=) c.*2498C>T (n.*2498C>T) | gnomAD v4 |
| 3 | g.15644637T>A | CA351607208 | BTD | c.721T>A (p.Tyr241Asn) c.399+2580T>A (n.399+2580T>A) c.165+2580T>A (n.165+2580T>A) c.781T>A (p.Tyr261Asn) c.787T>A (p.Tyr263Asn) c.499T>A (p.Tyr167Asn) c.*2499T>A (n.*2499T>A) | |
| 3 | g.15644637T>C | CA351607206 | BTD | c.721T>C (p.Tyr241His) c.399+2580T>C (n.399+2580T>C) c.165+2580T>C (n.165+2580T>C) c.781T>C (p.Tyr261His) c.787T>C (p.Tyr263His) c.499T>C (p.Tyr167His) c.*2499T>C (n.*2499T>C) | |
| 3 | g.15644637T>G | CA351607207 | BTD | c.721T>G (p.Tyr241Asp) c.399+2580T>G (n.399+2580T>G) c.165+2580T>G (n.165+2580T>G) c.781T>G (p.Tyr261Asp) c.787T>G (p.Tyr263Asp) c.499T>G (p.Tyr167Asp) c.*2499T>G (n.*2499T>G) | |
| 3 | g.15644638A>C | CA351607209 | BTD | c.722A>C (p.Tyr241Ser) c.399+2581A>C (n.399+2581A>C) c.165+2581A>C (n.165+2581A>C) c.782A>C (p.Tyr261Ser) c.788A>C (p.Tyr263Ser) c.500A>C (p.Tyr167Ser) c.*2500A>C (n.*2500A>C) | |
| 3 | g.15644638A>G | CA351607210 | BTD | c.722A>G (p.Tyr241Cys) c.399+2581A>G (n.399+2581A>G) c.165+2581A>G (n.165+2581A>G) c.782A>G (p.Tyr261Cys) c.788A>G (p.Tyr263Cys) c.500A>G (p.Tyr167Cys) c.*2500A>G (n.*2500A>G) | |
| 3 | g.15644638A>T | CA351607211 | BTD | c.722A>T (p.Tyr241Phe) c.399+2581A>T (n.399+2581A>T) c.165+2581A>T (n.165+2581A>T) c.782A>T (p.Tyr261Phe) c.788A>T (p.Tyr263Phe) c.500A>T (p.Tyr167Phe) c.*2500A>T (n.*2500A>T) | |
| 3 | g.15644639C>A | CA351607212 | BTD | c.723C>A (p.Tyr241Ter) c.399+2582C>A (n.399+2582C>A) c.165+2582C>A (n.165+2582C>A) c.783C>A (p.Tyr261Ter) c.789C>A (p.Tyr263Ter) c.501C>A (p.Tyr167Ter) c.*2501C>A (n.*2501C>A) | |
| 3 | g.15644639C= | CA1347664144 | BTD | c.723C= (p.Tyr241=) c.399+2582C= (n.399+2582C=) c.165+2582C= (n.165+2582C=) c.783C= (p.Tyr261=) c.789C= (p.Tyr263=) c.501C= (p.Tyr167=) c.*2501C= (n.*2501C=) | |
| 3 | g.15644639C>G | CA351607213 | BTD | c.723C>G (p.Tyr241Ter) c.399+2582C>G (n.399+2582C>G) c.165+2582C>G (n.165+2582C>G) c.783C>G (p.Tyr261Ter) c.789C>G (p.Tyr263Ter) c.501C>G (p.Tyr167Ter) c.*2501C>G (n.*2501C>G) | |
| 3 | g.15644639C>T | CA2277376 | BTD | c.723C>T (p.Tyr241=) c.399+2582C>T (n.399+2582C>T) c.165+2582C>T (n.165+2582C>T) c.783C>T (p.Tyr261=) c.789C>T (p.Tyr263=) c.501C>T (p.Tyr167=) c.*2501C>T (n.*2501C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644640A>C | CA351607214 | BTD | c.724A>C (p.Lys242Gln) c.399+2583A>C (n.399+2583A>C) c.165+2583A>C (n.165+2583A>C) c.784A>C (p.Lys262Gln) c.790A>C (p.Lys264Gln) c.502A>C (p.Lys168Gln) c.*2502A>C (n.*2502A>C) | gnomAD v4 |
| 3 | g.15644640A>G | CA351607215 | BTD | c.724A>G (p.Lys242Glu) c.399+2583A>G (n.399+2583A>G) c.165+2583A>G (n.165+2583A>G) c.784A>G (p.Lys262Glu) c.790A>G (p.Lys264Glu) c.502A>G (p.Lys168Glu) c.*2502A>G (n.*2502A>G) | |
| 3 | g.15644640A>T | CA351607216 | BTD | c.724A>T (p.Lys242Ter) c.399+2583A>T (n.399+2583A>T) c.165+2583A>T (n.165+2583A>T) c.784A>T (p.Lys262Ter) c.790A>T (p.Lys264Ter) c.502A>T (p.Lys168Ter) c.*2502A>T (n.*2502A>T) | |
| 3 | g.15644641A>C | CA351607217 | BTD | c.725A>C (p.Lys242Thr) c.399+2584A>C (n.399+2584A>C) c.165+2584A>C (n.165+2584A>C) c.785A>C (p.Lys262Thr) c.791A>C (p.Lys264Thr) c.503A>C (p.Lys168Thr) c.*2503A>C (n.*2503A>C) | |
| 3 | g.15644641A>G | CA351607218 | BTD | c.725A>G (p.Lys242Arg) c.399+2584A>G (n.399+2584A>G) c.165+2584A>G (n.165+2584A>G) c.785A>G (p.Lys262Arg) c.791A>G (p.Lys264Arg) c.503A>G (p.Lys168Arg) c.*2503A>G (n.*2503A>G) | |
| 3 | g.15644641A>T | CA351607219 | BTD | c.725A>T (p.Lys242Met) c.399+2584A>T (n.399+2584A>T) c.165+2584A>T (n.165+2584A>T) c.785A>T (p.Lys262Met) c.791A>T (p.Lys264Met) c.503A>T (p.Lys168Met) c.*2503A>T (n.*2503A>T) | |
| 3 | g.15644642G>A | CA432819347 | BTD | c.726G>A (p.Lys242=) c.399+2585G>A (n.399+2585G>A) c.165+2585G>A (n.165+2585G>A) c.786G>A (p.Lys262=) c.792G>A (p.Lys264=) c.504G>A (p.Lys168=) c.*2504G>A (n.*2504G>A) | COSMIC |
| 3 | g.15644642G>C | CA351607221 | BTD | c.726G>C (p.Lys242Asn) c.399+2585G>C (n.399+2585G>C) c.165+2585G>C (n.165+2585G>C) c.786G>C (p.Lys262Asn) c.792G>C (p.Lys264Asn) c.504G>C (p.Lys168Asn) c.*2504G>C (n.*2504G>C) | |
| 3 | g.15644642G>T | CA351607220 | BTD | c.726G>T (p.Lys242Asn) c.399+2585G>T (n.399+2585G>T) c.165+2585G>T (n.165+2585G>T) c.786G>T (p.Lys262Asn) c.792G>T (p.Lys264Asn) c.504G>T (p.Lys168Asn) c.*2504G>T (n.*2504G>T) | |
| 3 | g.15644643G>A | CA351607222 | BTD | c.727G>A (p.Val243Met) c.399+2586G>A (n.399+2586G>A) c.165+2586G>A (n.165+2586G>A) c.787G>A (p.Val263Met) c.793G>A (p.Val265Met) c.505G>A (p.Val169Met) c.*2505G>A (n.*2505G>A) | |
| 3 | g.15644643G>C | CA351607223 | BTD | c.727G>C (p.Val243Leu) c.399+2586G>C (n.399+2586G>C) c.165+2586G>C (n.165+2586G>C) c.787G>C (p.Val263Leu) c.793G>C (p.Val265Leu) c.505G>C (p.Val169Leu) c.*2505G>C (n.*2505G>C) | |
| 3 | g.15644643G= | CA1347664147 | BTD | c.727G= (p.Val243=) c.399+2586G= (n.399+2586G=) c.165+2586G= (n.165+2586G=) c.787G= (p.Val263=) c.793G= (p.Val265=) c.505G= (p.Val169=) c.*2505G= (n.*2505G=) | |
| 3 | g.15644643G>T | CA2277377 | BTD | c.727G>T (p.Val243Leu) c.399+2586G>T (n.399+2586G>T) c.165+2586G>T (n.165+2586G>T) c.787G>T (p.Val263Leu) c.793G>T (p.Val265Leu) c.505G>T (p.Val169Leu) c.*2505G>T (n.*2505G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644644T>A | CA351607224 | BTD | c.728T>A (p.Val243Glu) c.399+2587T>A (n.399+2587T>A) c.165+2587T>A (n.165+2587T>A) c.788T>A (p.Val263Glu) c.794T>A (p.Val265Glu) c.506T>A (p.Val169Glu) c.*2506T>A (n.*2506T>A) | |
| 3 | g.15644644T>C | CA351607225 | BTD | c.728T>C (p.Val243Ala) c.399+2587T>C (n.399+2587T>C) c.165+2587T>C (n.165+2587T>C) c.788T>C (p.Val263Ala) c.794T>C (p.Val265Ala) c.506T>C (p.Val169Ala) c.*2506T>C (n.*2506T>C) | |
| 3 | g.15644644T>G | CA351607226 | BTD | c.728T>G (p.Val243Gly) c.399+2587T>G (n.399+2587T>G) c.165+2587T>G (n.165+2587T>G) c.788T>G (p.Val263Gly) c.794T>G (p.Val265Gly) c.506T>G (p.Val169Gly) c.*2506T>G (n.*2506T>G) | |
| 3 | g.15644645G>A | CA2277378 | BTD | c.729G>A (p.Val243=) c.399+2588G>A (n.399+2588G>A) c.165+2588G>A (n.165+2588G>A) c.789G>A (p.Val263=) c.795G>A (p.Val265=) c.507G>A (p.Val169=) c.*2507G>A (n.*2507G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644645G>C | CA432819349 | BTD | c.729G>C (p.Val243=) c.399+2588G>C (n.399+2588G>C) c.165+2588G>C (n.165+2588G>C) c.789G>C (p.Val263=) c.795G>C (p.Val265=) c.507G>C (p.Val169=) c.*2507G>C (n.*2507G>C) | |
| 3 | g.15644645G= | CA1347664151 | BTD | c.729G= (p.Val243=) c.399+2588G= (n.399+2588G=) c.165+2588G= (n.165+2588G=) c.789G= (p.Val263=) c.795G= (p.Val265=) c.507G= (p.Val169=) c.*2507G= (n.*2507G=) | |
| 3 | g.15644645G>T | CA432819350 | BTD | c.729G>T (p.Val243=) c.399+2588G>T (n.399+2588G>T) c.165+2588G>T (n.165+2588G>T) c.789G>T (p.Val263=) c.795G>T (p.Val265=) c.507G>T (p.Val169=) c.*2507G>T (n.*2507G>T) | |
| 3 | g.15644646A>C | CA351607227 | BTD | c.730A>C (p.Lys244Gln) c.399+2589A>C (n.399+2589A>C) c.165+2589A>C (n.165+2589A>C) c.790A>C (p.Lys264Gln) c.796A>C (p.Lys266Gln) c.508A>C (p.Lys170Gln) c.*2508A>C (n.*2508A>C) | |
| 3 | g.15644646A>G | CA351607228 | BTD | c.730A>G (p.Lys244Glu) c.399+2589A>G (n.399+2589A>G) c.165+2589A>G (n.165+2589A>G) c.790A>G (p.Lys264Glu) c.796A>G (p.Lys266Glu) c.508A>G (p.Lys170Glu) c.*2508A>G (n.*2508A>G) | |
| 3 | g.15644646A>T | CA351607229 | BTD | c.730A>T (p.Lys244Ter) c.399+2589A>T (n.399+2589A>T) c.165+2589A>T (n.165+2589A>T) c.790A>T (p.Lys264Ter) c.796A>T (p.Lys266Ter) c.508A>T (p.Lys170Ter) c.*2508A>T (n.*2508A>T) | |
| 3 | g.15644647A>C | CA351607230 | BTD | c.731A>C (p.Lys244Thr) c.399+2590A>C (n.399+2590A>C) c.165+2590A>C (n.165+2590A>C) c.791A>C (p.Lys264Thr) c.797A>C (p.Lys266Thr) c.509A>C (p.Lys170Thr) c.*2509A>C (n.*2509A>C) | |
| 3 | g.15644647A>G | CA351607231 | BTD | c.731A>G (p.Lys244Arg) c.399+2590A>G (n.399+2590A>G) c.165+2590A>G (n.165+2590A>G) c.791A>G (p.Lys264Arg) c.797A>G (p.Lys266Arg) c.509A>G (p.Lys170Arg) c.*2509A>G (n.*2509A>G) | |
| 3 | g.15644647A>T | CA351607232 | BTD | c.731A>T (p.Lys244Met) c.399+2590A>T (n.399+2590A>T) c.165+2590A>T (n.165+2590A>T) c.791A>T (p.Lys264Met) c.797A>T (p.Lys266Met) c.509A>T (p.Lys170Met) c.*2509A>T (n.*2509A>T) | |
| 3 | g.15644648G>A | CA432819351 | BTD | c.732G>A (p.Lys244=) c.399+2591G>A (n.399+2591G>A) c.165+2591G>A (n.165+2591G>A) c.792G>A (p.Lys264=) c.798G>A (p.Lys266=) c.510G>A (p.Lys170=) c.*2510G>A (n.*2510G>A) | |
| 3 | g.15644648G>C | CA351607233 | BTD | c.732G>C (p.Lys244Asn) c.399+2591G>C (n.399+2591G>C) c.165+2591G>C (n.165+2591G>C) c.792G>C (p.Lys264Asn) c.798G>C (p.Lys266Asn) c.510G>C (p.Lys170Asn) c.*2510G>C (n.*2510G>C) | |
| 3 | g.15644648G>T | CA351607234 | BTD | c.732G>T (p.Lys244Asn) c.399+2591G>T (n.399+2591G>T) c.165+2591G>T (n.165+2591G>T) c.792G>T (p.Lys264Asn) c.798G>T (p.Lys266Asn) c.510G>T (p.Lys170Asn) c.*2510G>T (n.*2510G>T) | |
| 3 | g.15644649C>A | CA351607237 | BTD | c.733C>A (p.His245Asn) c.399+2592C>A (n.399+2592C>A) c.165+2592C>A (n.165+2592C>A) c.793C>A (p.His265Asn) c.799C>A (p.His267Asn) c.511C>A (p.His171Asn) c.*2511C>A (n.*2511C>A) | |
| 3 | g.15644649C= | CA1347664153 | BTD | c.733C= (p.His245=) c.399+2592C= (n.399+2592C=) c.165+2592C= (n.165+2592C=) c.793C= (p.His265=) c.799C= (p.His267=) c.511C= (p.His171=) c.*2511C= (n.*2511C=) | |
| 3 | g.15644649C>G | CA351607235 | BTD | c.733C>G (p.His245Asp) c.399+2592C>G (n.399+2592C>G) c.165+2592C>G (n.165+2592C>G) c.793C>G (p.His265Asp) c.799C>G (p.His267Asp) c.511C>G (p.His171Asp) c.*2511C>G (n.*2511C>G) | gnomAD v4 |
| 3 | g.15644649C>T | CA351607236 | BTD | c.733C>T (p.His245Tyr) c.399+2592C>T (n.399+2592C>T) c.165+2592C>T (n.165+2592C>T) c.793C>T (p.His265Tyr) c.799C>T (p.His267Tyr) c.511C>T (p.His171Tyr) c.*2511C>T (n.*2511C>T) | dbSNP gnomAD v4 |
| 3 | g.15644650A= | CA1347664160 | BTD | c.734A= (p.His245=) c.399+2593A= (n.399+2593A=) c.165+2593A= (n.165+2593A=) c.794A= (p.His265=) c.800A= (p.His267=) c.512A= (p.His171=) c.*2512A= (n.*2512A=) | |
| 3 | g.15644650A>C | CA351607238 | BTD | c.734A>C (p.His245Pro) c.399+2593A>C (n.399+2593A>C) c.165+2593A>C (n.165+2593A>C) c.794A>C (p.His265Pro) c.800A>C (p.His267Pro) c.512A>C (p.His171Pro) c.*2512A>C (n.*2512A>C) | |
| 3 | g.15644650A>G | CA351607239 | BTD | c.734A>G (p.His245Arg) c.399+2593A>G (n.399+2593A>G) c.165+2593A>G (n.165+2593A>G) c.794A>G (p.His265Arg) c.800A>G (p.His267Arg) c.512A>G (p.His171Arg) c.*2512A>G (n.*2512A>G) | |
| 3 | g.15644650A>T | CA278260 | BTD | c.734A>T (p.His245Leu) c.399+2593A>T (n.399+2593A>T) c.165+2593A>T (n.165+2593A>T) c.794A>T (p.His265Leu) c.800A>T (p.His267Leu) c.512A>T (p.His171Leu) c.*2512A>T (n.*2512A>T) | dbSNP |
| 3 | g.[15644650A>T;15644789T>G] | CA082722 | BTD | c.[734A>T;873T>G] (p.[His245Leu;Ser291Arg]) c.[399+2593A>T;399+2732T>G] (n.[399+2593A>T;399+2732T>G]) c.[165+2593A>T;165+2732T>G] (n.[165+2593A>T;165+2732T>G]) c.[794A>T;933T>G] (p.[His265Leu;Ser311Arg]) c.[800A>T;939T>G] (p.[His267Leu;Ser313Arg]) c.[512A>T;651T>G] (p.[His171Leu;Ser217Arg]) c.[*2512A>T;*2651T>G] (n.[*2512A>T;*2651T>G]) | |
| 3 | g.15644652_15644653insGATG | CA2664667151 | BTD | c.736_737insGATG (p.Val246GlyfsTer19) c.399+2595_399+2596insGATG (n.399+2595_399+2596insGATG) c.165+2595_165+2596insGATG (n.165+2595_165+2596insGATG) c.796_797insGATG (p.Val266GlyfsTer19) c.802_803insGATG (p.Val268GlyfsTer19) c.514_515insGATG (p.Val172GlyfsTer19) c.736_737insGATG (p.Val246GlyfsTer?) c.*2514_*2515insGATG (n.*2514_*2515insGATG) | gnomAD v4 |
| 3 | g.15644651T>A | CA351607240 | BTD | c.735T>A (p.His245Gln) c.399+2594T>A (n.399+2594T>A) c.165+2594T>A (n.165+2594T>A) c.795T>A (p.His265Gln) c.801T>A (p.His267Gln) c.513T>A (p.His171Gln) c.*2513T>A (n.*2513T>A) | |
| 3 | g.15644651T>C | CA432819352 | BTD | c.735T>C (p.His245=) c.399+2594T>C (n.399+2594T>C) c.165+2594T>C (n.165+2594T>C) c.795T>C (p.His265=) c.801T>C (p.His267=) c.513T>C (p.His171=) c.*2513T>C (n.*2513T>C) | COSMIC |
| 3 | g.15644651T>G | CA351607241 | BTD | c.735T>G (p.His245Gln) c.399+2594T>G (n.399+2594T>G) c.165+2594T>G (n.165+2594T>G) c.795T>G (p.His265Gln) c.801T>G (p.His267Gln) c.513T>G (p.His171Gln) c.*2513T>G (n.*2513T>G) | |
| 3 | g.15644652G>A | CA351607242 | BTD | c.736G>A (p.Val246Ile) c.399+2595G>A (n.399+2595G>A) c.165+2595G>A (n.165+2595G>A) c.796G>A (p.Val266Ile) c.802G>A (p.Val268Ile) c.514G>A (p.Val172Ile) c.*2514G>A (n.*2514G>A) | dbSNP |
| 3 | g.15644652G>C | CA351607243 | BTD | c.736G>C (p.Val246Leu) c.399+2595G>C (n.399+2595G>C) c.165+2595G>C (n.165+2595G>C) c.796G>C (p.Val266Leu) c.802G>C (p.Val268Leu) c.514G>C (p.Val172Leu) c.*2514G>C (n.*2514G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644652G= | CA1347664168 | BTD | c.736G= (p.Val246=) c.399+2595G= (n.399+2595G=) c.165+2595G= (n.165+2595G=) c.796G= (p.Val266=) c.802G= (p.Val268=) c.514G= (p.Val172=) c.*2514G= (n.*2514G=) | |
| 3 | g.15644652G>T | CA351607244 | BTD | c.736G>T (p.Val246Phe) c.399+2595G>T (n.399+2595G>T) c.165+2595G>T (n.165+2595G>T) c.796G>T (p.Val266Phe) c.802G>T (p.Val268Phe) c.514G>T (p.Val172Phe) c.*2514G>T (n.*2514G>T) | |
| 3 | g.15644653T>A | CA351607245 | BTD | c.737T>A (p.Val246Asp) c.399+2596T>A (n.399+2596T>A) c.165+2596T>A (n.165+2596T>A) c.797T>A (p.Val266Asp) c.803T>A (p.Val268Asp) c.515T>A (p.Val172Asp) c.*2515T>A (n.*2515T>A) | ClinVar |
| 3 | g.15644653T>C | CA351607246 | BTD | c.737T>C (p.Val246Ala) c.399+2596T>C (n.399+2596T>C) c.165+2596T>C (n.165+2596T>C) c.797T>C (p.Val266Ala) c.803T>C (p.Val268Ala) c.515T>C (p.Val172Ala) c.*2515T>C (n.*2515T>C) | |
| 3 | g.15644653T>G | CA351607247 | BTD | c.737T>G (p.Val246Gly) c.399+2596T>G (n.399+2596T>G) c.165+2596T>G (n.165+2596T>G) c.797T>G (p.Val266Gly) c.803T>G (p.Val268Gly) c.515T>G (p.Val172Gly) c.*2515T>G (n.*2515T>G) | |
| 3 | g.15644654T>A | CA432819354 | BTD | c.738T>A (p.Val246=) c.399+2597T>A (n.399+2597T>A) c.165+2597T>A (n.165+2597T>A) c.798T>A (p.Val266=) c.804T>A (p.Val268=) c.516T>A (p.Val172=) c.*2516T>A (n.*2516T>A) | |
| 3 | g.15644654T>C | CA432819355 | BTD | c.738T>C (p.Val246=) c.399+2597T>C (n.399+2597T>C) c.165+2597T>C (n.165+2597T>C) c.798T>C (p.Val266=) c.804T>C (p.Val268=) c.516T>C (p.Val172=) c.*2516T>C (n.*2516T>C) | |
| 3 | g.15644654T>G | CA432819357 | BTD | c.738T>G (p.Val246=) c.399+2597T>G (n.399+2597T>G) c.165+2597T>G (n.165+2597T>G) c.798T>G (p.Val266=) c.804T>G (p.Val268=) c.516T>G (p.Val172=) c.*2516T>G (n.*2516T>G) | |
| 3 | g.15644655G>A | CA351607250 | BTD | c.739G>A (p.Val247Met) c.399+2598G>A (n.399+2598G>A) c.165+2598G>A (n.165+2598G>A) c.799G>A (p.Val267Met) c.805G>A (p.Val269Met) c.517G>A (p.Val173Met) c.*2517G>A (n.*2517G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644655G>C | CA351607249 | BTD | c.739G>C (p.Val247Leu) c.399+2598G>C (n.399+2598G>C) c.165+2598G>C (n.165+2598G>C) c.799G>C (p.Val267Leu) c.805G>C (p.Val269Leu) c.517G>C (p.Val173Leu) c.*2517G>C (n.*2517G>C) | |
| 3 | g.15644655G= | CA1347664174 | BTD | c.739G= (p.Val247=) c.399+2598G= (n.399+2598G=) c.165+2598G= (n.165+2598G=) c.799G= (p.Val267=) c.805G= (p.Val269=) c.517G= (p.Val173=) c.*2517G= (n.*2517G=) | |
| 3 | g.15644655G>T | CA351607248 | BTD | c.739G>T (p.Val247Leu) c.399+2598G>T (n.399+2598G>T) c.165+2598G>T (n.165+2598G>T) c.799G>T (p.Val267Leu) c.805G>T (p.Val269Leu) c.517G>T (p.Val173Leu) c.*2517G>T (n.*2517G>T) | ClinVar dbSNP |
| 3 | g.15644656T>A | CA351607251 | BTD | c.740T>A (p.Val247Glu) c.399+2599T>A (n.399+2599T>A) c.165+2599T>A (n.165+2599T>A) c.800T>A (p.Val267Glu) c.806T>A (p.Val269Glu) c.518T>A (p.Val173Glu) c.*2518T>A (n.*2518T>A) | |
| 3 | g.15644656T>C | CA351607252 | BTD | c.740T>C (p.Val247Ala) c.399+2599T>C (n.399+2599T>C) c.165+2599T>C (n.165+2599T>C) c.800T>C (p.Val267Ala) c.806T>C (p.Val269Ala) c.518T>C (p.Val173Ala) c.*2518T>C (n.*2518T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644656T>G | CA351607253 | BTD | c.740T>G (p.Val247Gly) c.399+2599T>G (n.399+2599T>G) c.165+2599T>G (n.165+2599T>G) c.800T>G (p.Val267Gly) c.806T>G (p.Val269Gly) c.518T>G (p.Val173Gly) c.*2518T>G (n.*2518T>G) | |
| 3 | g.15644656T= | CA1347664179 | BTD | c.740T= (p.Val247=) c.399+2599T= (n.399+2599T=) c.165+2599T= (n.165+2599T=) c.800T= (p.Val267=) c.806T= (p.Val269=) c.518T= (p.Val173=) c.*2518T= (n.*2518T=) | |
| 3 | g.15644657G>A | CA2277379 | BTD | c.741G>A (p.Val247=) c.399+2600G>A (n.399+2600G>A) c.165+2600G>A (n.165+2600G>A) c.801G>A (p.Val267=) c.807G>A (p.Val269=) c.519G>A (p.Val173=) c.*2519G>A (n.*2519G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644657G>C | CA432819359 | BTD | c.741G>C (p.Val247=) c.399+2600G>C (n.399+2600G>C) c.165+2600G>C (n.165+2600G>C) c.801G>C (p.Val267=) c.807G>C (p.Val269=) c.519G>C (p.Val173=) c.*2519G>C (n.*2519G>C) | |
| 3 | g.15644657G= | CA1347664181 | BTD | c.741G= (p.Val247=) c.399+2600G= (n.399+2600G=) c.165+2600G= (n.165+2600G=) c.801G= (p.Val267=) c.807G= (p.Val269=) c.519G= (p.Val173=) c.*2519G= (n.*2519G=) | |
| 3 | g.15644657G>T | CA432819360 | BTD | c.741G>T (p.Val247=) c.399+2600G>T (n.399+2600G>T) c.165+2600G>T (n.165+2600G>T) c.801G>T (p.Val267=) c.807G>T (p.Val269=) c.519G>T (p.Val173=) c.*2519G>T (n.*2519G>T) | |
| 3 | g.15644658T>A | CA351607254 | BTD | c.742T>A (p.Tyr248Asn) c.399+2601T>A (n.399+2601T>A) c.165+2601T>A (n.165+2601T>A) c.802T>A (p.Tyr268Asn) c.808T>A (p.Tyr270Asn) c.520T>A (p.Tyr174Asn) c.*2520T>A (n.*2520T>A) | |
| 3 | g.15644658T>C | CA351607255 | BTD | c.742T>C (p.Tyr248His) c.399+2601T>C (n.399+2601T>C) c.165+2601T>C (n.165+2601T>C) c.802T>C (p.Tyr268His) c.808T>C (p.Tyr270His) c.520T>C (p.Tyr174His) c.*2520T>C (n.*2520T>C) | |
| 3 | g.15644658T>G | CA351607256 | BTD | c.742T>G (p.Tyr248Asp) c.399+2601T>G (n.399+2601T>G) c.165+2601T>G (n.165+2601T>G) c.802T>G (p.Tyr268Asp) c.808T>G (p.Tyr270Asp) c.520T>G (p.Tyr174Asp) c.*2520T>G (n.*2520T>G) | |
| 3 | g.15644659A>C | CA351607257 | BTD | c.743A>C (p.Tyr248Ser) c.399+2602A>C (n.399+2602A>C) c.165+2602A>C (n.165+2602A>C) c.803A>C (p.Tyr268Ser) c.809A>C (p.Tyr270Ser) c.521A>C (p.Tyr174Ser) c.*2521A>C (n.*2521A>C) | |
| 3 | g.15644659A>G | CA351607258 | BTD | c.743A>G (p.Tyr248Cys) c.399+2602A>G (n.399+2602A>G) c.165+2602A>G (n.165+2602A>G) c.803A>G (p.Tyr268Cys) c.809A>G (p.Tyr270Cys) c.521A>G (p.Tyr174Cys) c.*2521A>G (n.*2521A>G) | |
| 3 | g.15644659A>T | CA351607259 | BTD | c.743A>T (p.Tyr248Phe) c.399+2602A>T (n.399+2602A>T) c.165+2602A>T (n.165+2602A>T) c.803A>T (p.Tyr268Phe) c.809A>T (p.Tyr270Phe) c.521A>T (p.Tyr174Phe) c.*2521A>T (n.*2521A>T) | gnomAD v4 |
| 3 | g.15644659dup | CA2499216566 | BTD | c.743dup (p.Tyr248Ter) c.399+2602dup (n.399+2602dup) c.165+2602dup (n.165+2602dup) c.803dup (p.Tyr268Ter) c.809dup (p.Tyr270Ter) c.521dup (p.Tyr174Ter) c.*2521dup (n.*2521dup) | ClinVar dbSNP |
| 3 | g.15644660C>A | CA351607260 | BTD | c.744C>A (p.Tyr248Ter) c.399+2603C>A (n.399+2603C>A) c.165+2603C>A (n.165+2603C>A) c.804C>A (p.Tyr268Ter) c.810C>A (p.Tyr270Ter) c.522C>A (p.Tyr174Ter) c.*2522C>A (n.*2522C>A) | |
| 3 | g.15644660C>G | CA351607261 | BTD | c.744C>G (p.Tyr248Ter) c.399+2603C>G (n.399+2603C>G) c.165+2603C>G (n.165+2603C>G) c.804C>G (p.Tyr268Ter) c.810C>G (p.Tyr270Ter) c.522C>G (p.Tyr174Ter) c.*2522C>G (n.*2522C>G) | |
| 3 | g.15644660C>T | CA432819362 | BTD | c.744C>T (p.Tyr248=) c.399+2603C>T (n.399+2603C>T) c.165+2603C>T (n.165+2603C>T) c.804C>T (p.Tyr268=) c.810C>T (p.Tyr270=) c.522C>T (p.Tyr174=) c.*2522C>T (n.*2522C>T) | gnomAD v4 |
| 3 | g.15644661C>A | CA351607263 | BTD | c.745C>A (p.Pro249Thr) c.399+2604C>A (n.399+2604C>A) c.165+2604C>A (n.165+2604C>A) c.805C>A (p.Pro269Thr) c.811C>A (p.Pro271Thr) c.523C>A (p.Pro175Thr) c.*2523C>A (n.*2523C>A) | |
| 3 | g.15644661C>G | CA351607264 | BTD | c.745C>G (p.Pro249Ala) c.399+2604C>G (n.399+2604C>G) c.165+2604C>G (n.165+2604C>G) c.805C>G (p.Pro269Ala) c.811C>G (p.Pro271Ala) c.523C>G (p.Pro175Ala) c.*2523C>G (n.*2523C>G) | gnomAD v4 |
| 3 | g.15644661C>T | CA351607262 | BTD | c.745C>T (p.Pro249Ser) c.399+2604C>T (n.399+2604C>T) c.165+2604C>T (n.165+2604C>T) c.805C>T (p.Pro269Ser) c.811C>T (p.Pro271Ser) c.523C>T (p.Pro175Ser) c.*2523C>T (n.*2523C>T) | gnomAD v4 |
| 3 | g.15644662C>A | CA351607265 | BTD | c.746C>A (p.Pro249Gln) c.399+2605C>A (n.399+2605C>A) c.165+2605C>A (n.165+2605C>A) c.806C>A (p.Pro269Gln) c.812C>A (p.Pro271Gln) c.524C>A (p.Pro175Gln) c.*2524C>A (n.*2524C>A) | gnomAD v4 |
| 3 | g.15644662C>G | CA351607266 | BTD | c.746C>G (p.Pro249Arg) c.399+2605C>G (n.399+2605C>G) c.165+2605C>G (n.165+2605C>G) c.806C>G (p.Pro269Arg) c.812C>G (p.Pro271Arg) c.524C>G (p.Pro175Arg) c.*2524C>G (n.*2524C>G) | |
| 3 | g.15644662C>T | CA351607267 | BTD | c.746C>T (p.Pro249Leu) c.399+2605C>T (n.399+2605C>T) c.165+2605C>T (n.165+2605C>T) c.806C>T (p.Pro269Leu) c.812C>T (p.Pro271Leu) c.524C>T (p.Pro175Leu) c.*2524C>T (n.*2524C>T) | |
| 3 | g.15644663A>C | CA432819366 | BTD | c.747A>C (p.Pro249=) c.399+2606A>C (n.399+2606A>C) c.165+2606A>C (n.165+2606A>C) c.807A>C (p.Pro269=) c.813A>C (p.Pro271=) c.525A>C (p.Pro175=) c.*2525A>C (n.*2525A>C) | |
| 3 | g.15644663A>G | CA432819365 | BTD | c.747A>G (p.Pro249=) c.399+2606A>G (n.399+2606A>G) c.165+2606A>G (n.165+2606A>G) c.807A>G (p.Pro269=) c.813A>G (p.Pro271=) c.525A>G (p.Pro175=) c.*2525A>G (n.*2525A>G) | |
| 3 | g.15644663A>T | CA432819364 | BTD | c.747A>T (p.Pro249=) c.399+2606A>T (n.399+2606A>T) c.165+2606A>T (n.165+2606A>T) c.807A>T (p.Pro269=) c.813A>T (p.Pro271=) c.525A>T (p.Pro175=) c.*2525A>T (n.*2525A>T) | |
| 3 | g.15644664A= | CA1347664185 | BTD | c.748A= (p.Thr250=) c.399+2607A= (n.399+2607A=) c.165+2607A= (n.165+2607A=) c.808A= (p.Thr270=) c.814A= (p.Thr272=) c.526A= (p.Thr176=) c.*2526A= (n.*2526A=) | |
| 3 | g.15644664A>C | CA351607268 | BTD | c.748A>C (p.Thr250Pro) c.399+2607A>C (n.399+2607A>C) c.165+2607A>C (n.165+2607A>C) c.808A>C (p.Thr270Pro) c.814A>C (p.Thr272Pro) c.526A>C (p.Thr176Pro) c.*2526A>C (n.*2526A>C) | |
| 3 | g.15644664A>G | CA2277380 | BTD | c.748A>G (p.Thr250Ala) c.399+2607A>G (n.399+2607A>G) c.165+2607A>G (n.165+2607A>G) c.808A>G (p.Thr270Ala) c.814A>G (p.Thr272Ala) c.526A>G (p.Thr176Ala) c.*2526A>G (n.*2526A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644664A>T | CA351607269 | BTD | c.748A>T (p.Thr250Ser) c.399+2607A>T (n.399+2607A>T) c.165+2607A>T (n.165+2607A>T) c.808A>T (p.Thr270Ser) c.814A>T (p.Thr272Ser) c.526A>T (p.Thr176Ser) c.*2526A>T (n.*2526A>T) | |
| 3 | g.15644665C>A | CA351607270 | BTD | c.749C>A (p.Thr250Asn) c.399+2608C>A (n.399+2608C>A) c.165+2608C>A (n.165+2608C>A) c.809C>A (p.Thr270Asn) c.815C>A (p.Thr272Asn) c.527C>A (p.Thr176Asn) c.*2527C>A (n.*2527C>A) | |
| 3 | g.15644665C= | CA1347664188 | BTD | c.749C= (p.Thr250=) c.399+2608C= (n.399+2608C=) c.165+2608C= (n.165+2608C=) c.809C= (p.Thr270=) c.815C= (p.Thr272=) c.527C= (p.Thr176=) c.*2527C= (n.*2527C=) | |
| 3 | g.15644665C>G | CA351607272 | BTD | c.749C>G (p.Thr250Ser) c.399+2608C>G (n.399+2608C>G) c.165+2608C>G (n.165+2608C>G) c.809C>G (p.Thr270Ser) c.815C>G (p.Thr272Ser) c.527C>G (p.Thr176Ser) c.*2527C>G (n.*2527C>G) | dbSNP |
| 3 | g.15644665C>T | CA351607271 | BTD | c.749C>T (p.Thr250Ile) c.399+2608C>T (n.399+2608C>T) c.165+2608C>T (n.165+2608C>T) c.809C>T (p.Thr270Ile) c.815C>T (p.Thr272Ile) c.527C>T (p.Thr176Ile) c.*2527C>T (n.*2527C>T) | |
| 3 | g.15644666T>A | CA70622166 | BTD | c.750T>A (p.Thr250=) c.399+2609T>A (n.399+2609T>A) c.165+2609T>A (n.165+2609T>A) c.810T>A (p.Thr270=) c.816T>A (p.Thr272=) c.528T>A (p.Thr176=) c.*2528T>A (n.*2528T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644666T>C | CA432819367 | BTD | c.750T>C (p.Thr250=) c.399+2609T>C (n.399+2609T>C) c.165+2609T>C (n.165+2609T>C) c.810T>C (p.Thr270=) c.816T>C (p.Thr272=) c.528T>C (p.Thr176=) c.*2528T>C (n.*2528T>C) | |
| 3 | g.15644666T>G | CA432819368 | BTD | c.750T>G (p.Thr250=) c.399+2609T>G (n.399+2609T>G) c.165+2609T>G (n.165+2609T>G) c.810T>G (p.Thr270=) c.816T>G (p.Thr272=) c.528T>G (p.Thr176=) c.*2528T>G (n.*2528T>G) | |
| 3 | g.15644666T= | CA1347664193 | BTD | c.750T= (p.Thr250=) c.399+2609T= (n.399+2609T=) c.165+2609T= (n.165+2609T=) c.810T= (p.Thr270=) c.816T= (p.Thr272=) c.528T= (p.Thr176=) c.*2528T= (n.*2528T=) | |
| 3 | g.15644666_15644668delinsCTA | CA2580068524 | BTD | c.750_752delinsCTA (p.Ala251Tyr) c.399+2609_399+2611delinsCTA (n.399+2609_399+2611delinsCTA) c.165+2609_165+2611delinsCTA (n.165+2609_165+2611delinsCTA) c.810_812delinsCTA (p.Ala271Tyr) c.816_818delinsCTA (p.Ala273Tyr) c.528_530delinsCTA (p.Ala177Tyr) c.*2528_*2530delinsCTA (n.*2528_*2530delinsCTA) | ClinVar |
| 3 | g.15644667G>A | CA351607273 | BTD | c.751G>A (p.Ala251Thr) c.399+2610G>A (n.399+2610G>A) c.165+2610G>A (n.165+2610G>A) c.811G>A (p.Ala271Thr) c.817G>A (p.Ala273Thr) c.529G>A (p.Ala177Thr) c.*2529G>A (n.*2529G>A) | |
| 3 | g.15644667G>C | CA351607274 | BTD | c.751G>C (p.Ala251Pro) c.399+2610G>C (n.399+2610G>C) c.165+2610G>C (n.165+2610G>C) c.811G>C (p.Ala271Pro) c.817G>C (p.Ala273Pro) c.529G>C (p.Ala177Pro) c.*2529G>C (n.*2529G>C) | |
| 3 | g.15644667G= | CA1347664198 | BTD | c.751G= (p.Ala251=) c.399+2610G= (n.399+2610G=) c.165+2610G= (n.165+2610G=) c.811G= (p.Ala271=) c.817G= (p.Ala273=) c.529G= (p.Ala177=) c.*2529G= (n.*2529G=) | |
| 3 | g.15644667G>T | CA2277381 | BTD | c.751G>T (p.Ala251Ser) c.399+2610G>T (n.399+2610G>T) c.165+2610G>T (n.165+2610G>T) c.811G>T (p.Ala271Ser) c.817G>T (p.Ala273Ser) c.529G>T (p.Ala177Ser) c.*2529G>T (n.*2529G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644668C>A | CA351607277 | BTD | c.752C>A (p.Ala251Asp) c.399+2611C>A (n.399+2611C>A) c.165+2611C>A (n.165+2611C>A) c.812C>A (p.Ala271Asp) c.818C>A (p.Ala273Asp) c.530C>A (p.Ala177Asp) c.*2530C>A (n.*2530C>A) | gnomAD v4 |
| 3 | g.15644668C>G | CA351607276 | BTD | c.752C>G (p.Ala251Gly) c.399+2611C>G (n.399+2611C>G) c.165+2611C>G (n.165+2611C>G) c.812C>G (p.Ala271Gly) c.818C>G (p.Ala273Gly) c.530C>G (p.Ala177Gly) c.*2530C>G (n.*2530C>G) | |
| 3 | g.15644668C>T | CA351607275 | BTD | c.752C>T (p.Ala251Val) c.399+2611C>T (n.399+2611C>T) c.165+2611C>T (n.165+2611C>T) c.812C>T (p.Ala271Val) c.818C>T (p.Ala273Val) c.530C>T (p.Ala177Val) c.*2530C>T (n.*2530C>T) | |
| 3 | g.15644669C>A | CA432819372 | BTD | c.753C>A (p.Ala251=) c.399+2612C>A (n.399+2612C>A) c.165+2612C>A (n.165+2612C>A) c.813C>A (p.Ala271=) c.819C>A (p.Ala273=) c.531C>A (p.Ala177=) c.*2531C>A (n.*2531C>A) | |
| 3 | g.15644669C>G | CA432819373 | BTD | c.753C>G (p.Ala251=) c.399+2612C>G (n.399+2612C>G) c.165+2612C>G (n.165+2612C>G) c.813C>G (p.Ala271=) c.819C>G (p.Ala273=) c.531C>G (p.Ala177=) c.*2531C>G (n.*2531C>G) | gnomAD v4 |
| 3 | g.15644669C>T | CA432819374 | BTD | c.753C>T (p.Ala251=) c.399+2612C>T (n.399+2612C>T) c.165+2612C>T (n.165+2612C>T) c.813C>T (p.Ala271=) c.819C>T (p.Ala273=) c.531C>T (p.Ala177=) c.*2531C>T (n.*2531C>T) | ClinVar gnomAD v4 |
| 3 | g.15644670T>A | CA351607278 | BTD | c.754T>A (p.Trp252Arg) c.399+2613T>A (n.399+2613T>A) c.165+2613T>A (n.165+2613T>A) c.814T>A (p.Trp272Arg) c.820T>A (p.Trp274Arg) c.532T>A (p.Trp178Arg) c.754T>A c.*2532T>A (n.*2532T>A) | |
| 3 | g.15644670T>C | CA351607279 | BTD | c.754T>C (p.Trp252Arg) c.399+2613T>C (n.399+2613T>C) c.165+2613T>C (n.165+2613T>C) c.814T>C (p.Trp272Arg) c.820T>C (p.Trp274Arg) c.532T>C (p.Trp178Arg) c.754T>C c.*2532T>C (n.*2532T>C) | gnomAD v4 |
| 3 | g.15644670T>G | CA278262 | BTD | c.754T>G (p.Trp252Gly) c.399+2613T>G (n.399+2613T>G) c.165+2613T>G (n.165+2613T>G) c.814T>G (p.Trp272Gly) c.820T>G (p.Trp274Gly) c.532T>G (p.Trp178Gly) c.754T>G c.*2532T>G (n.*2532T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644670T= | CA1347664203 | BTD | c.754T= (p.Trp252=) c.399+2613T= (n.399+2613T=) c.165+2613T= (n.165+2613T=) c.814T= (p.Trp272=) c.820T= (p.Trp274=) c.532T= (p.Trp178=) c.754T= c.*2532T= (n.*2532T=) | |
| 3 | g.15644671G>A | CA70622203 | BTD | c.755G>A (p.Trp252Ter) c.399+2614G>A (n.399+2614G>A) c.165+2614G>A (n.165+2614G>A) c.815G>A (p.Trp272Ter) c.821G>A (p.Trp274Ter) c.533G>A (p.Trp178Ter) c.*2533G>A (n.*2533G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644671G>C | CA351607280 | BTD | c.755G>C (p.Trp252Ser) c.399+2614G>C (n.399+2614G>C) c.165+2614G>C (n.165+2614G>C) c.815G>C (p.Trp272Ser) c.821G>C (p.Trp274Ser) c.533G>C (p.Trp178Ser) c.*2533G>C (n.*2533G>C) | |
| 3 | g.15644671G= | CA1347664211 | BTD | c.755G= (p.Trp252=) c.399+2614G= (n.399+2614G=) c.165+2614G= (n.165+2614G=) c.815G= (p.Trp272=) c.821G= (p.Trp274=) c.533G= (p.Trp178=) c.*2533G= (n.*2533G=) | |
| 3 | g.15644671G>T | CA351607281 | BTD | c.755G>T (p.Trp252Leu) c.399+2614G>T (n.399+2614G>T) c.165+2614G>T (n.165+2614G>T) c.815G>T (p.Trp272Leu) c.821G>T (p.Trp274Leu) c.533G>T (p.Trp178Leu) c.*2533G>T (n.*2533G>T) | |
| 3 | g.15644672G>A | CA351607282 | BTD | c.756G>A (p.Trp252Ter) c.399+2615G>A (n.399+2615G>A) c.165+2615G>A (n.165+2615G>A) c.816G>A (p.Trp272Ter) c.822G>A (p.Trp274Ter) c.534G>A (p.Trp178Ter) c.*2534G>A (n.*2534G>A) | |
| 3 | g.15644672G>C | CA351607283 | BTD | c.756G>C (p.Trp252Cys) c.399+2615G>C (n.399+2615G>C) c.165+2615G>C (n.165+2615G>C) c.816G>C (p.Trp272Cys) c.822G>C (p.Trp274Cys) c.534G>C (p.Trp178Cys) c.*2534G>C (n.*2534G>C) | |
| 3 | g.15644672G>T | CA351607284 | BTD | c.756G>T (p.Trp252Cys) c.399+2615G>T (n.399+2615G>T) c.165+2615G>T (n.165+2615G>T) c.816G>T (p.Trp272Cys) c.822G>T (p.Trp274Cys) c.534G>T (p.Trp178Cys) c.*2534G>T (n.*2534G>T) | |
| 3 | g.15644673A>C | CA351607285 | BTD | c.757A>C (p.Met253Leu) c.399+2616A>C (n.399+2616A>C) c.165+2616A>C (n.165+2616A>C) c.817A>C (p.Met273Leu) c.823A>C (p.Met275Leu) c.535A>C (p.Met179Leu) c.*2535A>C (n.*2535A>C) | gnomAD v4 |
| 3 | g.15644673A>G | CA351607286 | BTD | c.757A>G (p.Met253Val) c.399+2616A>G (n.399+2616A>G) c.165+2616A>G (n.165+2616A>G) c.817A>G (p.Met273Val) c.823A>G (p.Met275Val) c.535A>G (p.Met179Val) c.*2535A>G (n.*2535A>G) | |
| 3 | g.15644673A>T | CA351607287 | BTD | c.757A>T (p.Met253Leu) c.399+2616A>T (n.399+2616A>T) c.165+2616A>T (n.165+2616A>T) c.817A>T (p.Met273Leu) c.823A>T (p.Met275Leu) c.535A>T (p.Met179Leu) c.*2535A>T (n.*2535A>T) | |
| 3 | g.15644674T>A | CA351607288 | BTD | c.758T>A (p.Met253Lys) c.399+2617T>A (n.399+2617T>A) c.165+2617T>A (n.165+2617T>A) c.818T>A (p.Met273Lys) c.824T>A (p.Met275Lys) c.536T>A (p.Met179Lys) c.*2536T>A (n.*2536T>A) | |
| 3 | g.15644674T>C | CA351607289 | BTD | c.758T>C (p.Met253Thr) c.399+2617T>C (n.399+2617T>C) c.165+2617T>C (n.165+2617T>C) c.818T>C (p.Met273Thr) c.824T>C (p.Met275Thr) c.536T>C (p.Met179Thr) c.*2536T>C (n.*2536T>C) | |
| 3 | g.15644674T>G | CA351607290 | BTD | c.758T>G (p.Met253Arg) c.399+2617T>G (n.399+2617T>G) c.165+2617T>G (n.165+2617T>G) c.818T>G (p.Met273Arg) c.824T>G (p.Met275Arg) c.536T>G (p.Met179Arg) c.*2536T>G (n.*2536T>G) | |
| 3 | g.15644675G>A | CA351607293 | BTD | c.759G>A (p.Met253Ile) c.399+2618G>A (n.399+2618G>A) c.165+2618G>A (n.165+2618G>A) c.819G>A (p.Met273Ile) c.825G>A (p.Met275Ile) c.537G>A (p.Met179Ile) c.*2537G>A (n.*2537G>A) | |
| 3 | g.15644675G>C | CA351607291 | BTD | c.759G>C (p.Met253Ile) c.399+2618G>C (n.399+2618G>C) c.165+2618G>C (n.165+2618G>C) c.819G>C (p.Met273Ile) c.825G>C (p.Met275Ile) c.537G>C (p.Met179Ile) c.*2537G>C (n.*2537G>C) | |
| 3 | g.15644675G>T | CA351607292 | BTD | c.759G>T (p.Met253Ile) c.399+2618G>T (n.399+2618G>T) c.165+2618G>T (n.165+2618G>T) c.819G>T (p.Met273Ile) c.825G>T (p.Met275Ile) c.537G>T (p.Met179Ile) c.*2537G>T (n.*2537G>T) | |
| 3 | g.15644676A= | CA1347664222 | BTD | c.760A= (p.Asn254=) c.399+2619A= (n.399+2619A=) c.165+2619A= (n.165+2619A=) c.820A= (p.Asn274=) c.826A= (p.Asn276=) c.538A= (p.Asn180=) c.*2538A= (n.*2538A=) | |
| 3 | g.15644676A>C | CA351607294 | BTD | c.760A>C (p.Asn254His) c.399+2619A>C (n.399+2619A>C) c.165+2619A>C (n.165+2619A>C) c.820A>C (p.Asn274His) c.826A>C (p.Asn276His) c.538A>C (p.Asn180His) c.*2538A>C (n.*2538A>C) | |
| 3 | g.15644676A>G | CA351607295 | BTD | c.760A>G (p.Asn254Asp) c.399+2619A>G (n.399+2619A>G) c.165+2619A>G (n.165+2619A>G) c.820A>G (p.Asn274Asp) c.826A>G (p.Asn276Asp) c.538A>G (p.Asn180Asp) c.*2538A>G (n.*2538A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644676A>T | CA351607296 | BTD | c.760A>T (p.Asn254Tyr) c.399+2619A>T (n.399+2619A>T) c.165+2619A>T (n.165+2619A>T) c.820A>T (p.Asn274Tyr) c.826A>T (p.Asn276Tyr) c.538A>T (p.Asn180Tyr) c.*2538A>T (n.*2538A>T) | |
| 3 | g.15644677A= | CA1347664226 | BTD | c.761A= (p.Asn254=) c.399+2620A= (n.399+2620A=) c.165+2620A= (n.165+2620A=) c.821A= (p.Asn274=) c.827A= (p.Asn276=) c.539A= (p.Asn180=) c.*2539A= (n.*2539A=) | |
| 3 | g.15644677A>C | CA351607297 | BTD | c.761A>C (p.Asn254Thr) c.399+2620A>C (n.399+2620A>C) c.165+2620A>C (n.165+2620A>C) c.821A>C (p.Asn274Thr) c.827A>C (p.Asn276Thr) c.539A>C (p.Asn180Thr) c.*2539A>C (n.*2539A>C) | |
| 3 | g.15644677A>G | CA2277382 | BTD | c.761A>G (p.Asn254Ser) c.399+2620A>G (n.399+2620A>G) c.165+2620A>G (n.165+2620A>G) c.821A>G (p.Asn274Ser) c.827A>G (p.Asn276Ser) c.539A>G (p.Asn180Ser) c.*2539A>G (n.*2539A>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.15644677A>T | CA351607298 | BTD | c.761A>T (p.Asn254Ile) c.399+2620A>T (n.399+2620A>T) c.165+2620A>T (n.165+2620A>T) c.821A>T (p.Asn274Ile) c.827A>T (p.Asn276Ile) c.539A>T (p.Asn180Ile) c.*2539A>T (n.*2539A>T) | |
| 3 | g.15644678C>A | CA351607299 | BTD | c.762C>A (p.Asn254Lys) c.399+2621C>A (n.399+2621C>A) c.165+2621C>A (n.165+2621C>A) c.822C>A (p.Asn274Lys) c.828C>A (p.Asn276Lys) c.540C>A (p.Asn180Lys) c.*2540C>A (n.*2540C>A) | |
| 3 | g.15644678C= | CA1347664227 | BTD | c.762C= (p.Asn254=) c.399+2621C= (n.399+2621C=) c.165+2621C= (n.165+2621C=) c.822C= (p.Asn274=) c.828C= (p.Asn276=) c.540C= (p.Asn180=) c.*2540C= (n.*2540C=) | |
| 3 | g.15644678C>G | CA351607300 | BTD | c.762C>G (p.Asn254Lys) c.399+2621C>G (n.399+2621C>G) c.165+2621C>G (n.165+2621C>G) c.822C>G (p.Asn274Lys) c.828C>G (p.Asn276Lys) c.540C>G (p.Asn180Lys) c.*2540C>G (n.*2540C>G) | |
| 3 | g.15644678C>T | CA432819378 | BTD | c.762C>T (p.Asn254=) c.399+2621C>T (n.399+2621C>T) c.165+2621C>T (n.165+2621C>T) c.822C>T (p.Asn274=) c.828C>T (p.Asn276=) c.540C>T (p.Asn180=) c.*2540C>T (n.*2540C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644679C>A | CA351607301 | BTD | c.763C>A (p.Gln255Lys) c.399+2622C>A (n.399+2622C>A) c.165+2622C>A (n.165+2622C>A) c.823C>A (p.Gln275Lys) c.829C>A (p.Gln277Lys) c.541C>A (p.Gln181Lys) c.*2541C>A (n.*2541C>A) | |
| 3 | g.15644679C= | CA1347664229 | BTD | c.763C= (p.Gln255=) c.399+2622C= (n.399+2622C=) c.165+2622C= (n.165+2622C=) c.823C= (p.Gln275=) c.829C= (p.Gln277=) c.541C= (p.Gln181=) c.*2541C= (n.*2541C=) | |
| 3 | g.15644679C>G | CA351607302 | BTD | c.763C>G (p.Gln255Glu) c.399+2622C>G (n.399+2622C>G) c.165+2622C>G (n.165+2622C>G) c.823C>G (p.Gln275Glu) c.829C>G (p.Gln277Glu) c.541C>G (p.Gln181Glu) c.*2541C>G (n.*2541C>G) | |
| 3 | g.15644679C>T | CA351607303 | BTD | c.763C>T (p.Gln255Ter) c.399+2622C>T (n.399+2622C>T) c.165+2622C>T (n.165+2622C>T) c.823C>T (p.Gln275Ter) c.829C>T (p.Gln277Ter) c.541C>T (p.Gln181Ter) c.*2541C>T (n.*2541C>T) | gnomAD v4 |
| 3 | g.15644680A>C | CA351607306 | BTD | c.764A>C (p.Gln255Pro) c.399+2623A>C (n.399+2623A>C) c.165+2623A>C (n.165+2623A>C) c.824A>C (p.Gln275Pro) c.830A>C (p.Gln277Pro) c.542A>C (p.Gln181Pro) c.*2542A>C (n.*2542A>C) | |
| 3 | g.15644680A>G | CA351607305 | BTD | c.764A>G (p.Gln255Arg) c.399+2623A>G (n.399+2623A>G) c.165+2623A>G (n.165+2623A>G) c.824A>G (p.Gln275Arg) c.830A>G (p.Gln277Arg) c.542A>G (p.Gln181Arg) c.*2542A>G (n.*2542A>G) | |
| 3 | g.15644680A>T | CA351607304 | BTD | c.764A>T (p.Gln255Leu) c.399+2623A>T (n.399+2623A>T) c.165+2623A>T (n.165+2623A>T) c.824A>T (p.Gln275Leu) c.830A>T (p.Gln277Leu) c.542A>T (p.Gln181Leu) c.*2542A>T (n.*2542A>T) | gnomAD v4 |
| 3 | g.15644680dup | CA2277383 | BTD | c.764dup (p.Leu256AlafsTer8) c.399+2623dup (n.399+2623dup) c.165+2623dup (n.165+2623dup) c.824dup (p.Leu276AlafsTer8) c.830dup (p.Leu278AlafsTer8) c.542dup (p.Leu182AlafsTer8) c.*2542dup (n.*2542dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644681G>A | CA432819382 | BTD | c.765G>A (p.Gln255=) c.399+2624G>A (n.399+2624G>A) c.165+2624G>A (n.165+2624G>A) c.825G>A (p.Gln275=) c.831G>A (p.Gln277=) c.543G>A (p.Gln181=) c.*2543G>A (n.*2543G>A) | |
| 3 | g.15644681G>C | CA70622231 | BTD | c.765G>C (p.Gln255His) c.399+2624G>C (n.399+2624G>C) c.165+2624G>C (n.165+2624G>C) c.825G>C (p.Gln275His) c.831G>C (p.Gln277His) c.543G>C (p.Gln181His) c.*2543G>C (n.*2543G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644681G= | CA1347664238 | BTD | c.765G= (p.Gln255=) c.399+2624G= (n.399+2624G=) c.165+2624G= (n.165+2624G=) c.825G= (p.Gln275=) c.831G= (p.Gln277=) c.543G= (p.Gln181=) c.*2543G= (n.*2543G=) | |
| 3 | g.15644681G>T | CA351607307 | BTD | c.765G>T (p.Gln255His) c.399+2624G>T (n.399+2624G>T) c.165+2624G>T (n.165+2624G>T) c.825G>T (p.Gln275His) c.831G>T (p.Gln277His) c.543G>T (p.Gln181His) c.*2543G>T (n.*2543G>T) | COSMIC |
| 3 | g.15644682C>A | CA351607308 | BTD | c.766C>A (p.Leu256Ile) c.399+2625C>A (n.399+2625C>A) c.165+2625C>A (n.165+2625C>A) c.826C>A (p.Leu276Ile) c.832C>A (p.Leu278Ile) c.544C>A (p.Leu182Ile) c.*2544C>A (n.*2544C>A) | |
| 3 | g.15644682C>G | CA351607309 | BTD | c.766C>G (p.Leu256Val) c.399+2625C>G (n.399+2625C>G) c.165+2625C>G (n.165+2625C>G) c.826C>G (p.Leu276Val) c.832C>G (p.Leu278Val) c.544C>G (p.Leu182Val) c.*2544C>G (n.*2544C>G) | |
| 3 | g.15644682C>T | CA351607310 | BTD | c.766C>T (p.Leu256Phe) c.399+2625C>T (n.399+2625C>T) c.165+2625C>T (n.165+2625C>T) c.826C>T (p.Leu276Phe) c.832C>T (p.Leu278Phe) c.544C>T (p.Leu182Phe) c.*2544C>T (n.*2544C>T) | |
| 3 | g.15644683T>A | CA351607311 | BTD | c.767T>A (p.Leu256His) c.399+2626T>A (n.399+2626T>A) c.165+2626T>A (n.165+2626T>A) c.827T>A (p.Leu276His) c.833T>A (p.Leu278His) c.545T>A (p.Leu182His) c.*2545T>A (n.*2545T>A) | |
| 3 | g.15644683T>C | CA351607312 | BTD | c.767T>C (p.Leu256Pro) c.399+2626T>C (n.399+2626T>C) c.165+2626T>C (n.165+2626T>C) c.827T>C (p.Leu276Pro) c.833T>C (p.Leu278Pro) c.545T>C (p.Leu182Pro) c.*2545T>C (n.*2545T>C) | |
| 3 | g.15644683T>G | CA351607313 | BTD | c.767T>G (p.Leu256Arg) c.399+2626T>G (n.399+2626T>G) c.165+2626T>G (n.165+2626T>G) c.827T>G (p.Leu276Arg) c.833T>G (p.Leu278Arg) c.545T>G (p.Leu182Arg) c.*2545T>G (n.*2545T>G) | |
| 3 | g.15644684C>A | CA432819386 | BTD | c.768C>A (p.Leu256=) c.399+2627C>A (n.399+2627C>A) c.165+2627C>A (n.165+2627C>A) c.828C>A (p.Leu276=) c.834C>A (p.Leu278=) c.546C>A (p.Leu182=) c.*2546C>A (n.*2546C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644684C= | CA1347664244 | BTD | c.768C= (p.Leu256=) c.399+2627C= (n.399+2627C=) c.165+2627C= (n.165+2627C=) c.828C= (p.Leu276=) c.834C= (p.Leu278=) c.546C= (p.Leu182=) c.*2546C= (n.*2546C=) | |
| 3 | g.15644684C>G | CA2277384 | BTD | c.768C>G (p.Leu256=) c.399+2627C>G (n.399+2627C>G) c.165+2627C>G (n.165+2627C>G) c.828C>G (p.Leu276=) c.834C>G (p.Leu278=) c.546C>G (p.Leu182=) c.*2546C>G (n.*2546C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644684C>T | CA432819389 | BTD | c.768C>T (p.Leu256=) c.399+2627C>T (n.399+2627C>T) c.165+2627C>T (n.165+2627C>T) c.828C>T (p.Leu276=) c.834C>T (p.Leu278=) c.546C>T (p.Leu182=) c.*2546C>T (n.*2546C>T) | gnomAD v4 |
| 3 | g.15644685C>A | CA351607314 | BTD | c.769C>A (p.Pro257Thr) c.399+2628C>A (n.399+2628C>A) c.165+2628C>A (n.165+2628C>A) c.829C>A (p.Pro277Thr) c.835C>A (p.Pro279Thr) c.547C>A (p.Pro183Thr) c.*2547C>A (n.*2547C>A) | |
| 3 | g.15644685C>G | CA351607315 | BTD | c.769C>G (p.Pro257Ala) c.399+2628C>G (n.399+2628C>G) c.165+2628C>G (n.165+2628C>G) c.829C>G (p.Pro277Ala) c.835C>G (p.Pro279Ala) c.547C>G (p.Pro183Ala) c.*2547C>G (n.*2547C>G) | |
| 3 | g.15644685C>T | CA351607316 | BTD | c.769C>T (p.Pro257Ser) c.399+2628C>T (n.399+2628C>T) c.165+2628C>T (n.165+2628C>T) c.829C>T (p.Pro277Ser) c.835C>T (p.Pro279Ser) c.547C>T (p.Pro183Ser) c.*2547C>T (n.*2547C>T) | gnomAD v4 |
| 3 | g.15644686C>A | CA70622251 | BTD | c.770C>A (p.Pro257Gln) c.399+2629C>A (n.399+2629C>A) c.165+2629C>A (n.165+2629C>A) c.830C>A (p.Pro277Gln) c.836C>A (p.Pro279Gln) c.548C>A (p.Pro183Gln) c.*2548C>A (n.*2548C>A) | dbSNP |
| 3 | g.15644686C= | CA1347664250 | BTD | c.770C= (p.Pro257=) c.399+2629C= (n.399+2629C=) c.165+2629C= (n.165+2629C=) c.830C= (p.Pro277=) c.836C= (p.Pro279=) c.548C= (p.Pro183=) c.*2548C= (n.*2548C=) | |
| 3 | g.15644686C>G | CA351607317 | BTD | c.770C>G (p.Pro257Arg) c.399+2629C>G (n.399+2629C>G) c.165+2629C>G (n.165+2629C>G) c.830C>G (p.Pro277Arg) c.836C>G (p.Pro279Arg) c.548C>G (p.Pro183Arg) c.*2548C>G (n.*2548C>G) | |
| 3 | g.15644686C>T | CA220335 | BTD | c.770C>T (p.Pro257Leu) c.399+2629C>T (n.399+2629C>T) c.165+2629C>T (n.165+2629C>T) c.830C>T (p.Pro277Leu) c.836C>T (p.Pro279Leu) c.548C>T (p.Pro183Leu) c.*2548C>T (n.*2548C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644687A>C | CA432819391 | BTD | c.771A>C (p.Pro257=) c.399+2630A>C (n.399+2630A>C) c.165+2630A>C (n.165+2630A>C) c.831A>C (p.Pro277=) c.837A>C (p.Pro279=) c.549A>C (p.Pro183=) c.*2549A>C (n.*2549A>C) | |
| 3 | g.15644687A>G | CA432819392 | BTD | c.771A>G (p.Pro257=) c.399+2630A>G (n.399+2630A>G) c.165+2630A>G (n.165+2630A>G) c.831A>G (p.Pro277=) c.837A>G (p.Pro279=) c.549A>G (p.Pro183=) c.*2549A>G (n.*2549A>G) | gnomAD v4 |
| 3 | g.15644687A>T | CA432819394 | BTD | c.771A>T (p.Pro257=) c.399+2630A>T (n.399+2630A>T) c.165+2630A>T (n.165+2630A>T) c.831A>T (p.Pro277=) c.837A>T (p.Pro279=) c.549A>T (p.Pro183=) c.*2549A>T (n.*2549A>T) | |
| 3 | g.15644688C>A | CA351607318 | BTD | c.772C>A (p.Leu258Ile) c.399+2631C>A (n.399+2631C>A) c.165+2631C>A (n.165+2631C>A) c.832C>A (p.Leu278Ile) c.838C>A (p.Leu280Ile) c.550C>A (p.Leu184Ile) c.*2550C>A (n.*2550C>A) | |
| 3 | g.15644688C= | CA1347664257 | BTD | c.772C= (p.Leu258=) c.399+2631C= (n.399+2631C=) c.165+2631C= (n.165+2631C=) c.832C= (p.Leu278=) c.838C= (p.Leu280=) c.550C= (p.Leu184=) c.*2550C= (n.*2550C=) | |
| 3 | g.15644688C>G | CA278264 | BTD | c.772C>G (p.Leu258Val) c.399+2631C>G (n.399+2631C>G) c.165+2631C>G (n.165+2631C>G) c.832C>G (p.Leu278Val) c.838C>G (p.Leu280Val) c.550C>G (p.Leu184Val) c.*2550C>G (n.*2550C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644688C>T | CA351607319 | BTD | c.772C>T (p.Leu258Phe) c.399+2631C>T (n.399+2631C>T) c.165+2631C>T (n.165+2631C>T) c.832C>T (p.Leu278Phe) c.838C>T (p.Leu280Phe) c.550C>T (p.Leu184Phe) c.*2550C>T (n.*2550C>T) | dbSNP |
| 3 | g.15644689T>A | CA351607320 | BTD | c.773T>A (p.Leu258His) c.399+2632T>A (n.399+2632T>A) c.165+2632T>A (n.165+2632T>A) c.833T>A (p.Leu278His) c.839T>A (p.Leu280His) c.551T>A (p.Leu184His) c.*2551T>A (n.*2551T>A) | |
| 3 | g.15644689T>C | CA278266 | BTD | c.773T>C (p.Leu258Pro) c.399+2632T>C (n.399+2632T>C) c.165+2632T>C (n.165+2632T>C) c.833T>C (p.Leu278Pro) c.839T>C (p.Leu280Pro) c.551T>C (p.Leu184Pro) c.*2551T>C (n.*2551T>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644689T>G | CA351607321 | BTD | c.773T>G (p.Leu258Arg) c.399+2632T>G (n.399+2632T>G) c.165+2632T>G (n.165+2632T>G) c.833T>G (p.Leu278Arg) c.839T>G (p.Leu280Arg) c.551T>G (p.Leu184Arg) c.*2551T>G (n.*2551T>G) | |
| 3 | g.15644689T= | CA1347664263 | BTD | c.773T= (p.Leu258=) c.399+2632T= (n.399+2632T=) c.165+2632T= (n.165+2632T=) c.833T= (p.Leu278=) c.839T= (p.Leu280=) c.551T= (p.Leu184=) c.*2551T= (n.*2551T=) | |
| 3 | g.15644690C>A | CA432819395 | BTD | c.774C>A (p.Leu258=) c.399+2633C>A (n.399+2633C>A) c.165+2633C>A (n.165+2633C>A) c.834C>A (p.Leu278=) c.840C>A (p.Leu280=) c.552C>A (p.Leu184=) c.*2552C>A (n.*2552C>A) | |
| 3 | g.15644690C>G | CA432819397 | BTD | c.774C>G (p.Leu258=) c.399+2633C>G (n.399+2633C>G) c.165+2633C>G (n.165+2633C>G) c.834C>G (p.Leu278=) c.840C>G (p.Leu280=) c.552C>G (p.Leu184=) c.*2552C>G (n.*2552C>G) | |
| 3 | g.15644690C>T | CA432819399 | BTD | c.774C>T (p.Leu258=) c.399+2633C>T (n.399+2633C>T) c.165+2633C>T (n.165+2633C>T) c.834C>T (p.Leu278=) c.840C>T (p.Leu280=) c.552C>T (p.Leu184=) c.*2552C>T (n.*2552C>T) | |
| 3 | g.15644691T>A | CA351607322 | BTD | c.775T>A (p.Leu259Met) c.399+2634T>A (n.399+2634T>A) c.165+2634T>A (n.165+2634T>A) c.835T>A (p.Leu279Met) c.841T>A (p.Leu281Met) c.553T>A (p.Leu185Met) c.*2553T>A (n.*2553T>A) | |
| 3 | g.15644691T>C | CA432819400 | BTD | c.775T>C (p.Leu259=) c.399+2634T>C (n.399+2634T>C) c.165+2634T>C (n.165+2634T>C) c.835T>C (p.Leu279=) c.841T>C (p.Leu281=) c.553T>C (p.Leu185=) c.*2553T>C (n.*2553T>C) | |
| 3 | g.15644691T>G | CA351607323 | BTD | c.775T>G (p.Leu259Val) c.399+2634T>G (n.399+2634T>G) c.165+2634T>G (n.165+2634T>G) c.835T>G (p.Leu279Val) c.841T>G (p.Leu281Val) c.553T>G (p.Leu185Val) c.*2553T>G (n.*2553T>G) | |
| 3 | g.15644692T>A | CA351607324 | BTD | c.776T>A (p.Leu259Ter) c.399+2635T>A (n.399+2635T>A) c.165+2635T>A (n.165+2635T>A) c.836T>A (p.Leu279Ter) c.842T>A (p.Leu281Ter) c.554T>A (p.Leu185Ter) c.*2554T>A (n.*2554T>A) | dbSNP |
| 3 | g.15644692T>C | CA351607325 | BTD | c.776T>C (p.Leu259Ser) c.399+2635T>C (n.399+2635T>C) c.165+2635T>C (n.165+2635T>C) c.836T>C (p.Leu279Ser) c.842T>C (p.Leu281Ser) c.554T>C (p.Leu185Ser) c.*2554T>C (n.*2554T>C) | |
| 3 | g.15644692T>G | CA278268 | BTD | c.776T>G (p.Leu259Trp) c.399+2635T>G (n.399+2635T>G) c.165+2635T>G (n.165+2635T>G) c.836T>G (p.Leu279Trp) c.842T>G (p.Leu281Trp) c.554T>G (p.Leu185Trp) c.*2554T>G (n.*2554T>G) | dbSNP |
| 3 | g.15644692T= | CA1347664269 | BTD | c.776T= (p.Leu259=) c.399+2635T= (n.399+2635T=) c.165+2635T= (n.165+2635T=) c.836T= (p.Leu279=) c.842T= (p.Leu281=) c.554T= (p.Leu185=) c.*2554T= (n.*2554T=) | |
| 3 | g.15644693G>A | CA432819402 | BTD | c.777G>A (p.Leu259=) c.399+2636G>A (n.399+2636G>A) c.165+2636G>A (n.165+2636G>A) c.837G>A (p.Leu279=) c.843G>A (p.Leu281=) c.555G>A (p.Leu185=) c.*2555G>A (n.*2555G>A) | |
| 3 | g.15644693G>C | CA351607326 | BTD | c.777G>C (p.Leu259Phe) c.399+2636G>C (n.399+2636G>C) c.165+2636G>C (n.165+2636G>C) c.837G>C (p.Leu279Phe) c.843G>C (p.Leu281Phe) c.555G>C (p.Leu185Phe) c.*2555G>C (n.*2555G>C) | |
| 3 | g.15644693G>T | CA351607327 | BTD | c.777G>T (p.Leu259Phe) c.399+2636G>T (n.399+2636G>T) c.165+2636G>T (n.165+2636G>T) c.837G>T (p.Leu279Phe) c.843G>T (p.Leu281Phe) c.555G>T (p.Leu185Phe) c.*2555G>T (n.*2555G>T) | |
| 3 | g.15644694G>A | CA351607330 | BTD | c.778G>A (p.Ala260Thr) c.399+2637G>A (n.399+2637G>A) c.165+2637G>A (n.165+2637G>A) c.838G>A (p.Ala280Thr) c.844G>A (p.Ala282Thr) c.556G>A (p.Ala186Thr) c.*2556G>A (n.*2556G>A) | |
| 3 | g.15644694G>C | CA351607329 | BTD | c.778G>C (p.Ala260Pro) c.399+2637G>C (n.399+2637G>C) c.165+2637G>C (n.165+2637G>C) c.838G>C (p.Ala280Pro) c.844G>C (p.Ala282Pro) c.556G>C (p.Ala186Pro) c.*2556G>C (n.*2556G>C) | |
| 3 | g.15644694G>T | CA351607328 | BTD | c.778G>T (p.Ala260Ser) c.399+2637G>T (n.399+2637G>T) c.165+2637G>T (n.165+2637G>T) c.838G>T (p.Ala280Ser) c.844G>T (p.Ala282Ser) c.556G>T (p.Ala186Ser) c.*2556G>T (n.*2556G>T) | |
| 3 | g.15644695C>A | CA351607331 | BTD | c.779C>A (p.Ala260Glu) c.399+2638C>A (n.399+2638C>A) c.165+2638C>A (n.165+2638C>A) c.839C>A (p.Ala280Glu) c.845C>A (p.Ala282Glu) c.557C>A (p.Ala186Glu) c.*2557C>A (n.*2557C>A) | |
| 3 | g.15644695C>G | CA351607333 | BTD | c.779C>G (p.Ala260Gly) c.399+2638C>G (n.399+2638C>G) c.165+2638C>G (n.165+2638C>G) c.839C>G (p.Ala280Gly) c.845C>G (p.Ala282Gly) c.557C>G (p.Ala186Gly) c.*2557C>G (n.*2557C>G) | |
| 3 | g.15644695C>T | CA351607332 | BTD | c.779C>T (p.Ala260Val) c.399+2638C>T (n.399+2638C>T) c.165+2638C>T (n.165+2638C>T) c.839C>T (p.Ala280Val) c.845C>T (p.Ala282Val) c.557C>T (p.Ala186Val) c.*2557C>T (n.*2557C>T) | gnomAD v4 |
| 3 | g.15644696A>C | CA432819404 | BTD | c.780A>C (p.Ala260=) c.399+2639A>C (n.399+2639A>C) c.165+2639A>C (n.165+2639A>C) c.840A>C (p.Ala280=) c.846A>C (p.Ala282=) c.558A>C (p.Ala186=) c.*2558A>C (n.*2558A>C) | |
| 3 | g.15644696A>G | CA432819406 | BTD | c.780A>G (p.Ala260=) c.399+2639A>G (n.399+2639A>G) c.165+2639A>G (n.165+2639A>G) c.840A>G (p.Ala280=) c.846A>G (p.Ala282=) c.558A>G (p.Ala186=) c.*2558A>G (n.*2558A>G) | |
| 3 | g.15644696A>T | CA432819408 | BTD | c.780A>T (p.Ala260=) c.399+2639A>T (n.399+2639A>T) c.165+2639A>T (n.165+2639A>T) c.840A>T (p.Ala280=) c.846A>T (p.Ala282=) c.558A>T (p.Ala186=) c.*2558A>T (n.*2558A>T) | |
| 3 | g.15644697G>A | CA351607334 | BTD | c.781G>A (p.Ala261Thr) c.399+2640G>A (n.399+2640G>A) c.165+2640G>A (n.165+2640G>A) c.841G>A (p.Ala281Thr) c.847G>A (p.Ala283Thr) c.559G>A (p.Ala187Thr) c.*2559G>A (n.*2559G>A) | |
| 3 | g.15644697G>C | CA351607335 | BTD | c.781G>C (p.Ala261Pro) c.399+2640G>C (n.399+2640G>C) c.165+2640G>C (n.165+2640G>C) c.841G>C (p.Ala281Pro) c.847G>C (p.Ala283Pro) c.559G>C (p.Ala187Pro) c.*2559G>C (n.*2559G>C) | |
| 3 | g.15644697G>T | CA351607336 | BTD | c.781G>T (p.Ala261Ser) c.399+2640G>T (n.399+2640G>T) c.165+2640G>T (n.165+2640G>T) c.841G>T (p.Ala281Ser) c.847G>T (p.Ala283Ser) c.559G>T (p.Ala187Ser) c.*2559G>T (n.*2559G>T) | |
| 3 | g.15644698C>A | CA351607337 | BTD | c.782C>A (p.Ala261Glu) c.399+2641C>A (n.399+2641C>A) c.165+2641C>A (n.165+2641C>A) c.842C>A (p.Ala281Glu) c.848C>A (p.Ala283Glu) c.560C>A (p.Ala187Glu) c.*2560C>A (n.*2560C>A) | |
| 3 | g.15644698C= | CA1347664276 | BTD | c.782C= (p.Ala261=) c.399+2641C= (n.399+2641C=) c.165+2641C= (n.165+2641C=) c.842C= (p.Ala281=) c.848C= (p.Ala283=) c.560C= (p.Ala187=) c.*2560C= (n.*2560C=) | |
| 3 | g.15644698C>G | CA351607338 | BTD | c.782C>G (p.Ala261Gly) c.399+2641C>G (n.399+2641C>G) c.165+2641C>G (n.165+2641C>G) c.842C>G (p.Ala281Gly) c.848C>G (p.Ala283Gly) c.560C>G (p.Ala187Gly) c.*2560C>G (n.*2560C>G) | dbSNP |
| 3 | g.15644698C>T | CA351607339 | BTD | c.782C>T (p.Ala261Val) c.399+2641C>T (n.399+2641C>T) c.165+2641C>T (n.165+2641C>T) c.842C>T (p.Ala281Val) c.848C>T (p.Ala283Val) c.560C>T (p.Ala187Val) c.*2560C>T (n.*2560C>T) | dbSNP |
| 3 | g.15644699A>C | CA432819413 | BTD | c.783A>C (p.Ala261=) c.399+2642A>C (n.399+2642A>C) c.165+2642A>C (n.165+2642A>C) c.843A>C (p.Ala281=) c.849A>C (p.Ala283=) c.561A>C (p.Ala187=) c.*2561A>C (n.*2561A>C) | |
| 3 | g.15644699A>G | CA432819415 | BTD | c.783A>G (p.Ala261=) c.399+2642A>G (n.399+2642A>G) c.165+2642A>G (n.165+2642A>G) c.843A>G (p.Ala281=) c.849A>G (p.Ala283=) c.561A>G (p.Ala187=) c.*2561A>G (n.*2561A>G) | |
| 3 | g.15644699A>T | CA432819416 | BTD | c.783A>T (p.Ala261=) c.399+2642A>T (n.399+2642A>T) c.165+2642A>T (n.165+2642A>T) c.843A>T (p.Ala281=) c.849A>T (p.Ala283=) c.561A>T (p.Ala187=) c.*2561A>T (n.*2561A>T) | |
| 3 | g.15644700A= | CA1347664282 | BTD | c.784A= (p.Ile262=) c.399+2643A= (n.399+2643A=) c.165+2643A= (n.165+2643A=) c.844A= (p.Ile282=) c.850A= (p.Ile284=) c.562A= (p.Ile188=) c.*2562A= (n.*2562A=) | |
| 3 | g.15644700A>C | CA351607340 | BTD | c.784A>C (p.Ile262Leu) c.399+2643A>C (n.399+2643A>C) c.165+2643A>C (n.165+2643A>C) c.844A>C (p.Ile282Leu) c.850A>C (p.Ile284Leu) c.562A>C (p.Ile188Leu) c.*2562A>C (n.*2562A>C) | |
| 3 | g.15644700A>G | CA70622257 | BTD | c.784A>G (p.Ile262Val) c.399+2643A>G (n.399+2643A>G) c.165+2643A>G (n.165+2643A>G) c.844A>G (p.Ile282Val) c.850A>G (p.Ile284Val) c.562A>G (p.Ile188Val) c.*2562A>G (n.*2562A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644700A>T | CA351607341 | BTD | c.784A>T (p.Ile262Phe) c.399+2643A>T (n.399+2643A>T) c.165+2643A>T (n.165+2643A>T) c.844A>T (p.Ile282Phe) c.850A>T (p.Ile284Phe) c.562A>T (p.Ile188Phe) c.*2562A>T (n.*2562A>T) | ClinVar dbSNP |
| 3 | g.15644701T>A | CA351607342 | BTD | c.785T>A (p.Ile262Asn) c.399+2644T>A (n.399+2644T>A) c.165+2644T>A (n.165+2644T>A) c.845T>A (p.Ile282Asn) c.851T>A (p.Ile284Asn) c.563T>A (p.Ile188Asn) c.*2563T>A (n.*2563T>A) | |
| 3 | g.15644701T>C | CA351607343 | BTD | c.785T>C (p.Ile262Thr) c.399+2644T>C (n.399+2644T>C) c.165+2644T>C (n.165+2644T>C) c.845T>C (p.Ile282Thr) c.851T>C (p.Ile284Thr) c.563T>C (p.Ile188Thr) c.*2563T>C (n.*2563T>C) | dbSNP gnomAD v4 |
| 3 | g.15644701T>G | CA351607344 | BTD | c.785T>G (p.Ile262Ser) c.399+2644T>G (n.399+2644T>G) c.165+2644T>G (n.165+2644T>G) c.845T>G (p.Ile282Ser) c.851T>G (p.Ile284Ser) c.563T>G (p.Ile188Ser) c.*2563T>G (n.*2563T>G) | |
| 3 | g.15644701T= | CA1347664285 | BTD | c.785T= (p.Ile262=) c.399+2644T= (n.399+2644T=) c.165+2644T= (n.165+2644T=) c.845T= (p.Ile282=) c.851T= (p.Ile284=) c.563T= (p.Ile188=) c.*2563T= (n.*2563T=) | |
| 3 | g.15644702T>A | CA432819419 | BTD | c.786T>A (p.Ile262=) c.399+2645T>A (n.399+2645T>A) c.165+2645T>A (n.165+2645T>A) c.846T>A (p.Ile282=) c.852T>A (p.Ile284=) c.564T>A (p.Ile188=) c.*2564T>A (n.*2564T>A) | |
| 3 | g.15644702T>C | CA432819420 | BTD | c.786T>C (p.Ile262=) c.399+2645T>C (n.399+2645T>C) c.165+2645T>C (n.165+2645T>C) c.846T>C (p.Ile282=) c.852T>C (p.Ile284=) c.564T>C (p.Ile188=) c.*2564T>C (n.*2564T>C) | |
| 3 | g.15644702T>G | CA351607345 | BTD | c.786T>G (p.Ile262Met) c.399+2645T>G (n.399+2645T>G) c.165+2645T>G (n.165+2645T>G) c.846T>G (p.Ile282Met) c.852T>G (p.Ile284Met) c.564T>G (p.Ile188Met) c.*2564T>G (n.*2564T>G) | |
| 3 | g.15644703G>A | CA351607346 | BTD | c.787G>A (p.Glu263Lys) c.399+2646G>A (n.399+2646G>A) c.165+2646G>A (n.165+2646G>A) c.847G>A (p.Glu283Lys) c.853G>A (p.Glu285Lys) c.565G>A (p.Glu189Lys) c.*2565G>A (n.*2565G>A) | |
| 3 | g.15644703G>C | CA351607348 | BTD | c.787G>C (p.Glu263Gln) c.399+2646G>C (n.399+2646G>C) c.165+2646G>C (n.165+2646G>C) c.847G>C (p.Glu283Gln) c.853G>C (p.Glu285Gln) c.565G>C (p.Glu189Gln) c.*2565G>C (n.*2565G>C) | |
| 3 | g.15644703G>T | CA351607347 | BTD | c.787G>T (p.Glu263Ter) c.399+2646G>T (n.399+2646G>T) c.165+2646G>T (n.165+2646G>T) c.847G>T (p.Glu283Ter) c.853G>T (p.Glu285Ter) c.565G>T (p.Glu189Ter) c.*2565G>T (n.*2565G>T) | |
| 3 | g.15644704A>C | CA351607349 | BTD | c.788A>C (p.Glu263Ala) c.399+2647A>C (n.399+2647A>C) c.165+2647A>C (n.165+2647A>C) c.848A>C (p.Glu283Ala) c.854A>C (p.Glu285Ala) c.566A>C (p.Glu189Ala) c.*2566A>C (n.*2566A>C) | |
| 3 | g.15644704A>G | CA351607350 | BTD | c.788A>G (p.Glu263Gly) c.399+2647A>G (n.399+2647A>G) c.165+2647A>G (n.165+2647A>G) c.848A>G (p.Glu283Gly) c.854A>G (p.Glu285Gly) c.566A>G (p.Glu189Gly) c.*2566A>G (n.*2566A>G) | |
| 3 | g.15644704A>T | CA351607351 | BTD | c.788A>T (p.Glu263Val) c.399+2647A>T (n.399+2647A>T) c.165+2647A>T (n.165+2647A>T) c.848A>T (p.Glu283Val) c.854A>T (p.Glu285Val) c.566A>T (p.Glu189Val) c.*2566A>T (n.*2566A>T) | |
| 3 | g.15644705G>A | CA432819428 | BTD | c.789G>A (p.Glu263=) c.399+2648G>A (n.399+2648G>A) c.165+2648G>A (n.165+2648G>A) c.849G>A (p.Glu283=) c.855G>A (p.Glu285=) c.567G>A (p.Glu189=) c.*2567G>A (n.*2567G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644705G>C | CA351607352 | BTD | c.789G>C (p.Glu263Asp) c.399+2648G>C (n.399+2648G>C) c.165+2648G>C (n.165+2648G>C) c.849G>C (p.Glu283Asp) c.855G>C (p.Glu285Asp) c.567G>C (p.Glu189Asp) c.*2567G>C (n.*2567G>C) | |
| 3 | g.15644705G= | CA1347664291 | BTD | c.789G= (p.Glu263=) c.399+2648G= (n.399+2648G=) c.165+2648G= (n.165+2648G=) c.849G= (p.Glu283=) c.855G= (p.Glu285=) c.567G= (p.Glu189=) c.*2567G= (n.*2567G=) | |
| 3 | g.15644705G>T | CA351607353 | BTD | c.789G>T (p.Glu263Asp) c.399+2648G>T (n.399+2648G>T) c.165+2648G>T (n.165+2648G>T) c.849G>T (p.Glu283Asp) c.855G>T (p.Glu285Asp) c.567G>T (p.Glu189Asp) c.*2567G>T (n.*2567G>T) | |
| 3 | g.15644706A>C | CA351607354 | BTD | c.790A>C (p.Ile264Leu) c.399+2649A>C (n.399+2649A>C) c.165+2649A>C (n.165+2649A>C) c.850A>C (p.Ile284Leu) c.856A>C (p.Ile286Leu) c.568A>C (p.Ile190Leu) c.*2568A>C (n.*2568A>C) | |
| 3 | g.15644706A>G | CA351607355 | BTD | c.790A>G (p.Ile264Val) c.399+2649A>G (n.399+2649A>G) c.165+2649A>G (n.165+2649A>G) c.850A>G (p.Ile284Val) c.856A>G (p.Ile286Val) c.568A>G (p.Ile190Val) c.*2568A>G (n.*2568A>G) | gnomAD v4 |
| 3 | g.15644706A>T | CA351607356 | BTD | c.790A>T (p.Ile264Phe) c.399+2649A>T (n.399+2649A>T) c.165+2649A>T (n.165+2649A>T) c.850A>T (p.Ile284Phe) c.856A>T (p.Ile286Phe) c.568A>T (p.Ile190Phe) c.*2568A>T (n.*2568A>T) | |
| 3 | g.15644707T>A | CA351607357 | BTD | c.791T>A (p.Ile264Asn) c.399+2650T>A (n.399+2650T>A) c.165+2650T>A (n.165+2650T>A) c.851T>A (p.Ile284Asn) c.857T>A (p.Ile286Asn) c.569T>A (p.Ile190Asn) c.*2569T>A (n.*2569T>A) | |
| 3 | g.15644707T>C | CA351607358 | BTD | c.791T>C (p.Ile264Thr) c.399+2650T>C (n.399+2650T>C) c.165+2650T>C (n.165+2650T>C) c.851T>C (p.Ile284Thr) c.857T>C (p.Ile286Thr) c.569T>C (p.Ile190Thr) c.*2569T>C (n.*2569T>C) | gnomAD v4 |
| 3 | g.15644707T>G | CA351607359 | BTD | c.791T>G (p.Ile264Ser) c.399+2650T>G (n.399+2650T>G) c.165+2650T>G (n.165+2650T>G) c.851T>G (p.Ile284Ser) c.857T>G (p.Ile286Ser) c.569T>G (p.Ile190Ser) c.*2569T>G (n.*2569T>G) | |
| 3 | g.15644708T>A | CA432819437 | BTD | c.792T>A (p.Ile264=) c.399+2651T>A (n.399+2651T>A) c.165+2651T>A (n.165+2651T>A) c.852T>A (p.Ile284=) c.858T>A (p.Ile286=) c.570T>A (p.Ile190=) c.*2570T>A (n.*2570T>A) | |
| 3 | g.15644708T>C | CA432819435 | BTD | c.792T>C (p.Ile264=) c.399+2651T>C (n.399+2651T>C) c.165+2651T>C (n.165+2651T>C) c.852T>C (p.Ile284=) c.858T>C (p.Ile286=) c.570T>C (p.Ile190=) c.*2570T>C (n.*2570T>C) | |
| 3 | g.15644708T>G | CA351607360 | BTD | c.792T>G (p.Ile264Met) c.399+2651T>G (n.399+2651T>G) c.165+2651T>G (n.165+2651T>G) c.852T>G (p.Ile284Met) c.858T>G (p.Ile286Met) c.570T>G (p.Ile190Met) c.*2570T>G (n.*2570T>G) | dbSNP |
| 3 | g.15644708T= | CA1347664292 | BTD | c.792T= (p.Ile264=) c.399+2651T= (n.399+2651T=) c.165+2651T= (n.165+2651T=) c.852T= (p.Ile284=) c.858T= (p.Ile286=) c.570T= (p.Ile190=) c.*2570T= (n.*2570T=) | |
| 3 | g.15644709C>A | CA351607363 | BTD | c.793C>A (p.Gln265Lys) c.399+2652C>A (n.399+2652C>A) c.165+2652C>A (n.165+2652C>A) c.853C>A (p.Gln285Lys) c.859C>A (p.Gln287Lys) c.571C>A (p.Gln191Lys) c.*2571C>A (n.*2571C>A) | |
| 3 | g.15644709C>G | CA351607361 | BTD | c.793C>G (p.Gln265Glu) c.399+2652C>G (n.399+2652C>G) c.165+2652C>G (n.165+2652C>G) c.853C>G (p.Gln285Glu) c.859C>G (p.Gln287Glu) c.571C>G (p.Gln191Glu) c.*2571C>G (n.*2571C>G) | gnomAD v4 |
| 3 | g.15644709C>T | CA351607362 | BTD | c.793C>T (p.Gln265Ter) c.399+2652C>T (n.399+2652C>T) c.165+2652C>T (n.165+2652C>T) c.853C>T (p.Gln285Ter) c.859C>T (p.Gln287Ter) c.571C>T (p.Gln191Ter) c.*2571C>T (n.*2571C>T) | |
| 3 | g.15644710A>C | CA351607364 | BTD | c.794A>C (p.Gln265Pro) c.399+2653A>C (n.399+2653A>C) c.165+2653A>C (n.165+2653A>C) c.854A>C (p.Gln285Pro) c.860A>C (p.Gln287Pro) c.572A>C (p.Gln191Pro) c.*2572A>C (n.*2572A>C) | |
| 3 | g.15644710A>G | CA351607365 | BTD | c.794A>G (p.Gln265Arg) c.399+2653A>G (n.399+2653A>G) c.165+2653A>G (n.165+2653A>G) c.854A>G (p.Gln285Arg) c.860A>G (p.Gln287Arg) c.572A>G (p.Gln191Arg) c.*2572A>G (n.*2572A>G) | |
| 3 | g.15644710A>T | CA351607366 | BTD | c.794A>T (p.Gln265Leu) c.399+2653A>T (n.399+2653A>T) c.165+2653A>T (n.165+2653A>T) c.854A>T (p.Gln285Leu) c.860A>T (p.Gln287Leu) c.572A>T (p.Gln191Leu) c.*2572A>T (n.*2572A>T) | |
| 3 | g.15644711G>A | CA432819443 | BTD | c.795G>A (p.Gln265=) c.399+2654G>A (n.399+2654G>A) c.165+2654G>A (n.165+2654G>A) c.855G>A (p.Gln285=) c.861G>A (p.Gln287=) c.573G>A (p.Gln191=) c.*2573G>A (n.*2573G>A) | |
| 3 | g.15644711G>C | CA351607367 | BTD | c.795G>C (p.Gln265His) c.399+2654G>C (n.399+2654G>C) c.165+2654G>C (n.165+2654G>C) c.855G>C (p.Gln285His) c.861G>C (p.Gln287His) c.573G>C (p.Gln191His) c.*2573G>C (n.*2573G>C) | ClinVar dbSNP |
| 3 | g.15644711G= | CA1347664296 | BTD | c.795G= (p.Gln265=) c.399+2654G= (n.399+2654G=) c.165+2654G= (n.165+2654G=) c.855G= (p.Gln285=) c.861G= (p.Gln287=) c.573G= (p.Gln191=) c.*2573G= (n.*2573G=) | |
| 3 | g.15644711G>T | CA351607368 | BTD | c.795G>T (p.Gln265His) c.399+2654G>T (n.399+2654G>T) c.165+2654G>T (n.165+2654G>T) c.855G>T (p.Gln285His) c.861G>T (p.Gln287His) c.573G>T (p.Gln191His) c.*2573G>T (n.*2573G>T) | |
| 3 | g.15644711_15644712delinsGA | CA1347664298 | BTD | c.795_796delinsGA (p.Gln265=) c.399+2654_399+2655delinsGA (n.399+2654_399+2655delinsGA) c.165+2654_165+2655delinsGA (n.165+2654_165+2655delinsGA) c.855_856delinsGA (p.Gln285=) c.861_862delinsGA (p.Gln287=) c.573_574delinsGA (p.Gln191=) c.*2573_*2574delinsGA (n.*2573_*2574delinsGA) | |
| 3 | g.15644712A= | CA1347664304 | BTD | c.796A= (p.Lys266=) c.399+2655A= (n.399+2655A=) c.165+2655A= (n.165+2655A=) c.856A= (p.Lys286=) c.862A= (p.Lys288=) c.574A= (p.Lys192=) c.*2574A= (n.*2574A=) | |
| 3 | g.15644712A>C | CA351607369 | BTD | c.796A>C (p.Lys266Gln) c.399+2655A>C (n.399+2655A>C) c.165+2655A>C (n.165+2655A>C) c.856A>C (p.Lys286Gln) c.862A>C (p.Lys288Gln) c.574A>C (p.Lys192Gln) c.*2574A>C (n.*2574A>C) | |
| 3 | g.15644712A>G | CA351607370 | BTD | c.796A>G (p.Lys266Glu) c.399+2655A>G (n.399+2655A>G) c.165+2655A>G (n.165+2655A>G) c.856A>G (p.Lys286Glu) c.862A>G (p.Lys288Glu) c.574A>G (p.Lys192Glu) c.*2574A>G (n.*2574A>G) | |
| 3 | g.15644712A>T | CA351607371 | BTD | c.796A>T (p.Lys266Ter) c.399+2655A>T (n.399+2655A>T) c.165+2655A>T (n.165+2655A>T) c.856A>T (p.Lys286Ter) c.862A>T (p.Lys288Ter) c.574A>T (p.Lys192Ter) c.*2574A>T (n.*2574A>T) | |
| 3 | g.15644714del | CA915941881 | BTD | c.798del (p.Ala267LeufsTer22) c.399+2657del (n.399+2657del) c.165+2657del (n.165+2657del) c.858del (p.Ala287LeufsTer22) c.864del (p.Ala289LeufsTer22) c.576del (p.Ala193LeufsTer22) c.*2576del (n.*2576del) | ClinVar dbSNP |
| 3 | g.15644713A>C | CA351607372 | BTD | c.797A>C (p.Lys266Thr) c.399+2656A>C (n.399+2656A>C) c.165+2656A>C (n.165+2656A>C) c.857A>C (p.Lys286Thr) c.863A>C (p.Lys288Thr) c.575A>C (p.Lys192Thr) c.*2575A>C (n.*2575A>C) | |
| 3 | g.15644713A>G | CA351607373 | BTD | c.797A>G (p.Lys266Arg) c.399+2656A>G (n.399+2656A>G) c.165+2656A>G (n.165+2656A>G) c.857A>G (p.Lys286Arg) c.863A>G (p.Lys288Arg) c.575A>G (p.Lys192Arg) c.*2575A>G (n.*2575A>G) | gnomAD v4 |
| 3 | g.15644713A>T | CA351607374 | BTD | c.797A>T (p.Lys266Ile) c.399+2656A>T (n.399+2656A>T) c.165+2656A>T (n.165+2656A>T) c.857A>T (p.Lys286Ile) c.863A>T (p.Lys288Ile) c.575A>T (p.Lys192Ile) c.*2575A>T (n.*2575A>T) | |
| 3 | g.15644714A= | CA1347664312 | BTD | c.798A= (p.Lys266=) c.399+2657A= (n.399+2657A=) c.165+2657A= (n.165+2657A=) c.858A= (p.Lys286=) c.864A= (p.Lys288=) c.576A= (p.Lys192=) c.*2576A= (n.*2576A=) | |
| 3 | g.15644714A>C | CA351607376 | BTD | c.798A>C (p.Lys266Asn) c.399+2657A>C (n.399+2657A>C) c.165+2657A>C (n.165+2657A>C) c.858A>C (p.Lys286Asn) c.864A>C (p.Lys288Asn) c.576A>C (p.Lys192Asn) c.*2576A>C (n.*2576A>C) | gnomAD v4 |
| 3 | g.15644714A>G | CA2277385 | BTD | c.798A>G (p.Lys266=) c.399+2657A>G (n.399+2657A>G) c.165+2657A>G (n.165+2657A>G) c.858A>G (p.Lys286=) c.864A>G (p.Lys288=) c.576A>G (p.Lys192=) c.*2576A>G (n.*2576A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644714A>T | CA351607375 | BTD | c.798A>T (p.Lys266Asn) c.399+2657A>T (n.399+2657A>T) c.165+2657A>T (n.165+2657A>T) c.858A>T (p.Lys286Asn) c.864A>T (p.Lys288Asn) c.576A>T (p.Lys192Asn) c.*2576A>T (n.*2576A>T) | |
| 3 | g.15644715del | CA2695197751 | BTD | c.799del (p.Ala267LeufsTer22) c.399+2658del (n.399+2658del) c.165+2658del (n.165+2658del) c.859del (p.Ala287LeufsTer22) c.865del (p.Ala289LeufsTer22) c.577del (p.Ala193LeufsTer22) c.*2577del (n.*2577del) | ClinVar |
| 3 | g.15644715G>A | CA351607377 | BTD | c.799G>A (p.Ala267Thr) c.399+2658G>A (n.399+2658G>A) c.165+2658G>A (n.165+2658G>A) c.859G>A (p.Ala287Thr) c.865G>A (p.Ala289Thr) c.577G>A (p.Ala193Thr) c.*2577G>A (n.*2577G>A) | |
| 3 | g.15644715G>C | CA351607378 | BTD | c.799G>C (p.Ala267Pro) c.399+2658G>C (n.399+2658G>C) c.165+2658G>C (n.165+2658G>C) c.859G>C (p.Ala287Pro) c.865G>C (p.Ala289Pro) c.577G>C (p.Ala193Pro) c.*2577G>C (n.*2577G>C) | |
| 3 | g.15644715G= | CA1347664317 | BTD | c.799G= (p.Ala267=) c.399+2658G= (n.399+2658G=) c.165+2658G= (n.165+2658G=) c.859G= (p.Ala287=) c.865G= (p.Ala289=) c.577G= (p.Ala193=) c.*2577G= (n.*2577G=) | |
| 3 | g.15644715G>T | CA351607379 | BTD | c.799G>T (p.Ala267Ser) c.399+2658G>T (n.399+2658G>T) c.165+2658G>T (n.165+2658G>T) c.859G>T (p.Ala287Ser) c.865G>T (p.Ala289Ser) c.577G>T (p.Ala193Ser) c.*2577G>T (n.*2577G>T) | dbSNP gnomAD v4 |
| 3 | g.15644716C>A | CA351607380 | BTD | c.800C>A (p.Ala267Asp) c.399+2659C>A (n.399+2659C>A) c.165+2659C>A (n.165+2659C>A) c.860C>A (p.Ala287Asp) c.866C>A (p.Ala289Asp) c.578C>A (p.Ala193Asp) c.*2578C>A (n.*2578C>A) | |
| 3 | g.15644716C>G | CA351607381 | BTD | c.800C>G (p.Ala267Gly) c.399+2659C>G (n.399+2659C>G) c.165+2659C>G (n.165+2659C>G) c.860C>G (p.Ala287Gly) c.866C>G (p.Ala289Gly) c.578C>G (p.Ala193Gly) c.*2578C>G (n.*2578C>G) | |
| 3 | g.15644716C>T | CA351607382 | BTD | c.800C>T (p.Ala267Val) c.399+2659C>T (n.399+2659C>T) c.165+2659C>T (n.165+2659C>T) c.860C>T (p.Ala287Val) c.866C>T (p.Ala289Val) c.578C>T (p.Ala193Val) c.*2578C>T (n.*2578C>T) | |
| 3 | g.15644717T>A | CA432819454 | BTD | c.801T>A (p.Ala267=) c.399+2660T>A (n.399+2660T>A) c.165+2660T>A (n.165+2660T>A) c.861T>A (p.Ala287=) c.867T>A (p.Ala289=) c.579T>A (p.Ala193=) c.*2579T>A (n.*2579T>A) | |
| 3 | g.15644717T>C | CA432819455 | BTD | c.801T>C (p.Ala267=) c.399+2660T>C (n.399+2660T>C) c.165+2660T>C (n.165+2660T>C) c.861T>C (p.Ala287=) c.867T>C (p.Ala289=) c.579T>C (p.Ala193=) c.*2579T>C (n.*2579T>C) | |
| 3 | g.15644717T>G | CA432819456 | BTD | c.801T>G (p.Ala267=) c.399+2660T>G (n.399+2660T>G) c.165+2660T>G (n.165+2660T>G) c.861T>G (p.Ala287=) c.867T>G (p.Ala289=) c.579T>G (p.Ala193=) c.*2579T>G (n.*2579T>G) | |
| 3 | g.15644720del | CA2664667152 | BTD | c.804del (p.Phe268LeufsTer21) c.399+2663del (n.399+2663del) c.165+2663del (n.165+2663del) c.864del (p.Phe288LeufsTer21) c.870del (p.Phe290LeufsTer21) c.582del (p.Phe194LeufsTer21) c.*2582del (n.*2582del) | gnomAD v4 |
| 3 | g.15644718T>A | CA351607383 | BTD | c.802T>A (p.Phe268Ile) c.399+2661T>A (n.399+2661T>A) c.165+2661T>A (n.165+2661T>A) c.862T>A (p.Phe288Ile) c.868T>A (p.Phe290Ile) c.580T>A (p.Phe194Ile) c.*2580T>A (n.*2580T>A) | |
| 3 | g.15644718T>C | CA351607384 | BTD | c.802T>C (p.Phe268Leu) c.399+2661T>C (n.399+2661T>C) c.165+2661T>C (n.165+2661T>C) c.862T>C (p.Phe288Leu) c.868T>C (p.Phe290Leu) c.580T>C (p.Phe194Leu) c.*2580T>C (n.*2580T>C) | |
| 3 | g.15644718T>G | CA351607385 | BTD | c.802T>G (p.Phe268Val) c.399+2661T>G (n.399+2661T>G) c.165+2661T>G (n.165+2661T>G) c.862T>G (p.Phe288Val) c.868T>G (p.Phe290Val) c.580T>G (p.Phe194Val) c.*2580T>G (n.*2580T>G) | |
| 3 | g.15644719T>A | CA351607386 | BTD | c.803T>A (p.Phe268Tyr) c.399+2662T>A (n.399+2662T>A) c.165+2662T>A (n.165+2662T>A) c.863T>A (p.Phe288Tyr) c.869T>A (p.Phe290Tyr) c.581T>A (p.Phe194Tyr) c.*2581T>A (n.*2581T>A) | |
| 3 | g.15644719T>C | CA351607387 | BTD | c.803T>C (p.Phe268Ser) c.399+2662T>C (n.399+2662T>C) c.165+2662T>C (n.165+2662T>C) c.863T>C (p.Phe288Ser) c.869T>C (p.Phe290Ser) c.581T>C (p.Phe194Ser) c.*2581T>C (n.*2581T>C) | |
| 3 | g.15644719T>G | CA351607388 | BTD | c.803T>G (p.Phe268Cys) c.399+2662T>G (n.399+2662T>G) c.165+2662T>G (n.165+2662T>G) c.863T>G (p.Phe288Cys) c.869T>G (p.Phe290Cys) c.581T>G (p.Phe194Cys) c.*2581T>G (n.*2581T>G) | |
| 3 | g.15644720T>A | CA351607389 | BTD | c.804T>A (p.Phe268Leu) c.399+2663T>A (n.399+2663T>A) c.165+2663T>A (n.165+2663T>A) c.864T>A (p.Phe288Leu) c.870T>A (p.Phe290Leu) c.582T>A (p.Phe194Leu) c.*2582T>A (n.*2582T>A) | |
| 3 | g.15644720T>C | CA432819462 | BTD | c.804T>C (p.Phe268=) c.399+2663T>C (n.399+2663T>C) c.165+2663T>C (n.165+2663T>C) c.864T>C (p.Phe288=) c.870T>C (p.Phe290=) c.582T>C (p.Phe194=) c.*2582T>C (n.*2582T>C) | |
| 3 | g.15644720T>G | CA2277386 | BTD | c.804T>G (p.Phe268Leu) c.399+2663T>G (n.399+2663T>G) c.165+2663T>G (n.165+2663T>G) c.864T>G (p.Phe288Leu) c.870T>G (p.Phe290Leu) c.582T>G (p.Phe194Leu) c.*2582T>G (n.*2582T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644720T= | CA1347664319 | BTD | c.804T= (p.Phe268=) c.399+2663T= (n.399+2663T=) c.165+2663T= (n.165+2663T=) c.864T= (p.Phe288=) c.870T= (p.Phe290=) c.582T= (p.Phe194=) c.*2582T= (n.*2582T=) | |
| 3 | g.15644721G>A | CA351607390 | BTD | c.805G>A (p.Ala269Thr) c.399+2664G>A (n.399+2664G>A) c.165+2664G>A (n.165+2664G>A) c.865G>A (p.Ala289Thr) c.871G>A (p.Ala291Thr) c.583G>A (p.Ala195Thr) c.*2583G>A (n.*2583G>A) | gnomAD v4 |
| 3 | g.15644721G>C | CA081769 | BTD | c.805G>C (p.Ala269Pro) c.399+2664G>C (n.399+2664G>C) c.165+2664G>C (n.165+2664G>C) c.865G>C (p.Ala289Pro) c.871G>C (p.Ala291Pro) c.583G>C (p.Ala195Pro) c.*2583G>C (n.*2583G>C) | ClinVar dbSNP |
| 3 | g.15644721G= | CA1347664324 | BTD | c.805G= (p.Ala269=) c.399+2664G= (n.399+2664G=) c.165+2664G= (n.165+2664G=) c.865G= (p.Ala289=) c.871G= (p.Ala291=) c.583G= (p.Ala195=) c.*2583G= (n.*2583G=) | |
| 3 | g.15644721G>T | CA351607391 | BTD | c.805G>T (p.Ala269Ser) c.399+2664G>T (n.399+2664G>T) c.165+2664G>T (n.165+2664G>T) c.865G>T (p.Ala289Ser) c.871G>T (p.Ala291Ser) c.583G>T (p.Ala195Ser) c.*2583G>T (n.*2583G>T) | gnomAD v4 |
| 3 | g.15644722C>A | CA351607392 | BTD | c.806C>A (p.Ala269Asp) c.399+2665C>A (n.399+2665C>A) c.165+2665C>A (n.165+2665C>A) c.866C>A (p.Ala289Asp) c.872C>A (p.Ala291Asp) c.584C>A (p.Ala195Asp) c.*2584C>A (n.*2584C>A) | gnomAD v4 |
| 3 | g.15644722C= | CA1347664330 | BTD | c.806C= (p.Ala269=) c.399+2665C= (n.399+2665C=) c.165+2665C= (n.165+2665C=) c.866C= (p.Ala289=) c.872C= (p.Ala291=) c.584C= (p.Ala195=) c.*2584C= (n.*2584C=) | |
| 3 | g.15644722C>G | CA351607393 | BTD | c.806C>G (p.Ala269Gly) c.399+2665C>G (n.399+2665C>G) c.165+2665C>G (n.165+2665C>G) c.866C>G (p.Ala289Gly) c.872C>G (p.Ala291Gly) c.584C>G (p.Ala195Gly) c.*2584C>G (n.*2584C>G) | |
| 3 | g.15644722C>T | CA16604827 | BTD | c.806C>T (p.Ala269Val) c.399+2665C>T (n.399+2665C>T) c.165+2665C>T (n.165+2665C>T) c.866C>T (p.Ala289Val) c.872C>T (p.Ala291Val) c.584C>T (p.Ala195Val) c.*2584C>T (n.*2584C>T) | ClinVar dbSNP |