UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42728976dup | CA618002282 | CDAN1 | c.2645+50dup (n.2645+50dup) c.*1823+50dup (n.*1823+50dup) c.638+50dup (n.638+50dup) c.2648+50dup (n.2648+50dup) c.2672+50dup (n.2672+50dup) c.2669+50dup (n.2669+50dup) c.1637+50dup (n.1637+50dup) c.1889+50dup (n.1889+50dup) n.2702+50dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728975_42728976dup | CA2628070803 | CDAN1 | c.2645+49_2645+50dup (n.2645+49_2645+50dup) c.*1823+49_*1823+50dup (n.*1823+49_*1823+50dup) c.638+49_638+50dup (n.638+49_638+50dup) c.2648+49_2648+50dup (n.2648+49_2648+50dup) c.2672+49_2672+50dup (n.2672+49_2672+50dup) c.2669+49_2669+50dup (n.2669+49_2669+50dup) c.1637+49_1637+50dup (n.1637+49_1637+50dup) c.1889+49_1889+50dup (n.1889+49_1889+50dup) n.2702+49_2702+50dup | gnomAD v4 |
| 15 | g.42728975_42728976del | CA392036633 | CDAN1 | c.2645+49_2645+50del (n.2645+49_2645+50del) c.*1823+49_*1823+50del (n.*1823+49_*1823+50del) c.638+49_638+50del (n.638+49_638+50del) c.2648+49_2648+50del (n.2648+49_2648+50del) c.2672+49_2672+50del (n.2672+49_2672+50del) c.2669+49_2669+50del (n.2669+49_2669+50del) c.1637+49_1637+50del (n.1637+49_1637+50del) c.1889+49_1889+50del (n.1889+49_1889+50del) n.2702+49_2702+50del | |
| 15 | g.42728975G>A | CA712945161 | CDAN1 | c.2645+48C>T (n.2645+48C>T) c.*1823+48C>T (n.*1823+48C>T) c.638+48C>T (n.638+48C>T) c.2648+48C>T (n.2648+48C>T) c.2672+48C>T (n.2672+48C>T) c.2669+48C>T (n.2669+48C>T) c.1637+48C>T (n.1637+48C>T) c.1889+48C>T (n.1889+48C>T) n.2702+48C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42728975G>C | CA618002283 | CDAN1 | c.2645+48C>G (n.2645+48C>G) c.*1823+48C>G (n.*1823+48C>G) c.638+48C>G (n.638+48C>G) c.2648+48C>G (n.2648+48C>G) c.2672+48C>G (n.2672+48C>G) c.2669+48C>G (n.2669+48C>G) c.1637+48C>G (n.1637+48C>G) c.1889+48C>G (n.1889+48C>G) n.2702+48C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728975G= | CA2172869137 | CDAN1 | c.2645+48C= (n.2645+48C=) c.*1823+48C= (n.*1823+48C=) c.638+48C= (n.638+48C=) c.2648+48C= (n.2648+48C=) c.2672+48C= (n.2672+48C=) c.2669+48C= (n.2669+48C=) c.1637+48C= (n.1637+48C=) c.1889+48C= (n.1889+48C=) n.2702+48C= | |
| 15 | g.42728976G>A | CA2628070804 | CDAN1 | c.2645+47C>T (n.2645+47C>T) c.*1823+47C>T (n.*1823+47C>T) c.638+47C>T (n.638+47C>T) c.2648+47C>T (n.2648+47C>T) c.2672+47C>T (n.2672+47C>T) c.2669+47C>T (n.2669+47C>T) c.1637+47C>T (n.1637+47C>T) c.1889+47C>T (n.1889+47C>T) n.2702+47C>T | gnomAD v4 |
| 15 | g.42728976G= | CA2172869138 | CDAN1 | c.2645+47C= (n.2645+47C=) c.*1823+47C= (n.*1823+47C=) c.638+47C= (n.638+47C=) c.2648+47C= (n.2648+47C=) c.2672+47C= (n.2672+47C=) c.2669+47C= (n.2669+47C=) c.1637+47C= (n.1637+47C=) c.1889+47C= (n.1889+47C=) n.2702+47C= | |
| 15 | g.42728977A= | CA2172869139 | CDAN1 | c.2645+46T= (n.2645+46T=) c.*1823+46T= (n.*1823+46T=) c.638+46T= (n.638+46T=) c.2648+46T= (n.2648+46T=) c.2672+46T= (n.2672+46T=) c.2669+46T= (n.2669+46T=) c.1637+46T= (n.1637+46T=) c.1889+46T= (n.1889+46T=) n.2702+46T= | |
| 15 | g.42728977A>T | CA7515532 | CDAN1 | c.2645+46T>A (n.2645+46T>A) c.*1823+46T>A (n.*1823+46T>A) c.638+46T>A (n.638+46T>A) c.2648+46T>A (n.2648+46T>A) c.2672+46T>A (n.2672+46T>A) c.2669+46T>A (n.2669+46T>A) c.1637+46T>A (n.1637+46T>A) c.1889+46T>A (n.1889+46T>A) n.2702+46T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728982dup | CA7515531 | CDAN1 | c.2645+46dup (n.2645+46dup) c.*1823+46dup (n.*1823+46dup) c.638+46dup (n.638+46dup) c.2648+46dup (n.2648+46dup) c.2672+46dup (n.2672+46dup) c.2669+46dup (n.2669+46dup) c.1637+46dup (n.1637+46dup) c.1889+46dup (n.1889+46dup) n.2702+46dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728982del | CA2575698375 | CDAN1 | c.2645+46del (n.2645+46del) c.*1823+46del (n.*1823+46del) c.638+46del (n.638+46del) c.2648+46del (n.2648+46del) c.2672+46del (n.2672+46del) c.2669+46del (n.2669+46del) c.1637+46del (n.1637+46del) c.1889+46del (n.1889+46del) n.2702+46del | gnomAD v4 |
| 15 | g.42728980A= | CA2172869140 | CDAN1 | c.2645+43T= (n.2645+43T=) c.*1823+43T= (n.*1823+43T=) c.638+43T= (n.638+43T=) c.2648+43T= (n.2648+43T=) c.2672+43T= (n.2672+43T=) c.2669+43T= (n.2669+43T=) c.1637+43T= (n.1637+43T=) c.1889+43T= (n.1889+43T=) n.2702+43T= | |
| 15 | g.42728980A>G | CA618002284 | CDAN1 | c.2645+43T>C (n.2645+43T>C) c.*1823+43T>C (n.*1823+43T>C) c.638+43T>C (n.638+43T>C) c.2648+43T>C (n.2648+43T>C) c.2672+43T>C (n.2672+43T>C) c.2669+43T>C (n.2669+43T>C) c.1637+43T>C (n.1637+43T>C) c.1889+43T>C (n.1889+43T>C) n.2702+43T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728981A>C | CA2575698376 | CDAN1 | c.2645+42T>G (n.2645+42T>G) c.*1823+42T>G (n.*1823+42T>G) c.638+42T>G (n.638+42T>G) c.2648+42T>G (n.2648+42T>G) c.2672+42T>G (n.2672+42T>G) c.2669+42T>G (n.2669+42T>G) c.1637+42T>G (n.1637+42T>G) c.1889+42T>G (n.1889+42T>G) n.2702+42T>G | |
| 15 | g.42728982A>G | CA2628070805 | CDAN1 | c.2645+41T>C (n.2645+41T>C) c.*1823+41T>C (n.*1823+41T>C) c.638+41T>C (n.638+41T>C) c.2648+41T>C (n.2648+41T>C) c.2672+41T>C (n.2672+41T>C) c.2669+41T>C (n.2669+41T>C) c.1637+41T>C (n.1637+41T>C) c.1889+41T>C (n.1889+41T>C) n.2702+41T>C | gnomAD v4 |
| 15 | g.42728983T>A | CA2803923067 | CDAN1 | c.2645+40A>T (n.2645+40A>T) c.*1823+40A>T (n.*1823+40A>T) c.638+40A>T (n.638+40A>T) c.2648+40A>T (n.2648+40A>T) c.2672+40A>T (n.2672+40A>T) c.2669+40A>T (n.2669+40A>T) c.1637+40A>T (n.1637+40A>T) c.1889+40A>T (n.1889+40A>T) n.2702+40A>T | |
| 15 | g.42728983T>C | CA7515533 | CDAN1 | c.2645+40A>G (n.2645+40A>G) c.*1823+40A>G (n.*1823+40A>G) c.638+40A>G (n.638+40A>G) c.2648+40A>G (n.2648+40A>G) c.2672+40A>G (n.2672+40A>G) c.2669+40A>G (n.2669+40A>G) c.1637+40A>G (n.1637+40A>G) c.1889+40A>G (n.1889+40A>G) n.2702+40A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728983T>G | CA7515534 | CDAN1 | c.2645+40A>C (n.2645+40A>C) c.*1823+40A>C (n.*1823+40A>C) c.638+40A>C (n.638+40A>C) c.2648+40A>C (n.2648+40A>C) c.2672+40A>C (n.2672+40A>C) c.2669+40A>C (n.2669+40A>C) c.1637+40A>C (n.1637+40A>C) c.1889+40A>C (n.1889+40A>C) n.2702+40A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42728983T= | CA2172869141 | CDAN1 | c.2645+40A= (n.2645+40A=) c.*1823+40A= (n.*1823+40A=) c.638+40A= (n.638+40A=) c.2648+40A= (n.2648+40A=) c.2672+40A= (n.2672+40A=) c.2669+40A= (n.2669+40A=) c.1637+40A= (n.1637+40A=) c.1889+40A= (n.1889+40A=) n.2702+40A= | |
| 15 | g.42728984G>A | CA2628070806 | CDAN1 | c.2645+39C>T (n.2645+39C>T) c.*1823+39C>T (n.*1823+39C>T) c.638+39C>T (n.638+39C>T) c.2648+39C>T (n.2648+39C>T) c.2672+39C>T (n.2672+39C>T) c.2669+39C>T (n.2669+39C>T) c.1637+39C>T (n.1637+39C>T) c.1889+39C>T (n.1889+39C>T) n.2702+39C>T | gnomAD v4 |
| 15 | g.42728985G>A | CA712945186 | CDAN1 | c.2645+38C>T (n.2645+38C>T) c.*1823+38C>T (n.*1823+38C>T) c.638+38C>T (n.638+38C>T) c.2648+38C>T (n.2648+38C>T) c.2672+38C>T (n.2672+38C>T) c.2669+38C>T (n.2669+38C>T) c.1637+38C>T (n.1637+38C>T) c.1889+38C>T (n.1889+38C>T) n.2702+38C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42728985G= | CA2172869142 | CDAN1 | c.2645+38C= (n.2645+38C=) c.*1823+38C= (n.*1823+38C=) c.638+38C= (n.638+38C=) c.2648+38C= (n.2648+38C=) c.2672+38C= (n.2672+38C=) c.2669+38C= (n.2669+38C=) c.1637+38C= (n.1637+38C=) c.1889+38C= (n.1889+38C=) n.2702+38C= | |
| 15 | g.42728985G>T | CA2628070807 | CDAN1 | c.2645+38C>A (n.2645+38C>A) c.*1823+38C>A (n.*1823+38C>A) c.638+38C>A (n.638+38C>A) c.2648+38C>A (n.2648+38C>A) c.2672+38C>A (n.2672+38C>A) c.2669+38C>A (n.2669+38C>A) c.1637+38C>A (n.1637+38C>A) c.1889+38C>A (n.1889+38C>A) n.2702+38C>A | gnomAD v4 |
| 15 | g.42728986T>C | CA7515535 | CDAN1 | c.2645+37A>G (n.2645+37A>G) c.*1823+37A>G (n.*1823+37A>G) c.638+37A>G (n.638+37A>G) c.2648+37A>G (n.2648+37A>G) c.2672+37A>G (n.2672+37A>G) c.2669+37A>G (n.2669+37A>G) c.1637+37A>G (n.1637+37A>G) c.1889+37A>G (n.1889+37A>G) n.2702+37A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728986T= | CA2172869143 | CDAN1 | c.2645+37A= (n.2645+37A=) c.*1823+37A= (n.*1823+37A=) c.638+37A= (n.638+37A=) c.2648+37A= (n.2648+37A=) c.2672+37A= (n.2672+37A=) c.2669+37A= (n.2669+37A=) c.1637+37A= (n.1637+37A=) c.1889+37A= (n.1889+37A=) n.2702+37A= | |
| 15 | g.42728987A= | CA2172869144 | CDAN1 | c.2645+36T= (n.2645+36T=) c.*1823+36T= (n.*1823+36T=) c.638+36T= (n.638+36T=) c.2648+36T= (n.2648+36T=) c.2672+36T= (n.2672+36T=) c.2669+36T= (n.2669+36T=) c.1637+36T= (n.1637+36T=) c.1889+36T= (n.1889+36T=) n.2702+36T= | |
| 15 | g.42728987A>G | CA269902883 | CDAN1 | c.2645+36T>C (n.2645+36T>C) c.*1823+36T>C (n.*1823+36T>C) c.638+36T>C (n.638+36T>C) c.2648+36T>C (n.2648+36T>C) c.2672+36T>C (n.2672+36T>C) c.2669+36T>C (n.2669+36T>C) c.1637+36T>C (n.1637+36T>C) c.1889+36T>C (n.1889+36T>C) n.2702+36T>C | dbSNP gnomAD v4 |
| 15 | g.42728988G>A | CA7515536 | CDAN1 | c.2645+35C>T (n.2645+35C>T) c.*1823+35C>T (n.*1823+35C>T) c.638+35C>T (n.638+35C>T) c.2648+35C>T (n.2648+35C>T) c.2672+35C>T (n.2672+35C>T) c.2669+35C>T (n.2669+35C>T) c.1637+35C>T (n.1637+35C>T) c.1889+35C>T (n.1889+35C>T) n.2702+35C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728988G= | CA2172869145 | CDAN1 | c.2645+35C= (n.2645+35C=) c.*1823+35C= (n.*1823+35C=) c.638+35C= (n.638+35C=) c.2648+35C= (n.2648+35C=) c.2672+35C= (n.2672+35C=) c.2669+35C= (n.2669+35C=) c.1637+35C= (n.1637+35C=) c.1889+35C= (n.1889+35C=) n.2702+35C= | |
| 15 | g.42728988G>T | CA618002285 | CDAN1 | c.2645+35C>A (n.2645+35C>A) c.*1823+35C>A (n.*1823+35C>A) c.638+35C>A (n.638+35C>A) c.2648+35C>A (n.2648+35C>A) c.2672+35C>A (n.2672+35C>A) c.2669+35C>A (n.2669+35C>A) c.1637+35C>A (n.1637+35C>A) c.1889+35C>A (n.1889+35C>A) n.2702+35C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728991C= | CA2172869146 | CDAN1 | c.2645+32G= (n.2645+32G=) c.*1823+32G= (n.*1823+32G=) c.638+32G= (n.638+32G=) c.2648+32G= (n.2648+32G=) c.2672+32G= (n.2672+32G=) c.2669+32G= (n.2669+32G=) c.1637+32G= (n.1637+32G=) c.1889+32G= (n.1889+32G=) n.2702+32G= | |
| 15 | g.42728991C>G | CA269902892 | CDAN1 | c.2645+32G>C (n.2645+32G>C) c.*1823+32G>C (n.*1823+32G>C) c.638+32G>C (n.638+32G>C) c.2648+32G>C (n.2648+32G>C) c.2672+32G>C (n.2672+32G>C) c.2669+32G>C (n.2669+32G>C) c.1637+32G>C (n.1637+32G>C) c.1889+32G>C (n.1889+32G>C) n.2702+32G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42728991C>T | CA7515537 | CDAN1 | c.2645+32G>A (n.2645+32G>A) c.*1823+32G>A (n.*1823+32G>A) c.638+32G>A (n.638+32G>A) c.2648+32G>A (n.2648+32G>A) c.2672+32G>A (n.2672+32G>A) c.2669+32G>A (n.2669+32G>A) c.1637+32G>A (n.1637+32G>A) c.1889+32G>A (n.1889+32G>A) n.2702+32G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728992G>A | CA618002286 | CDAN1 | c.2645+31C>T (n.2645+31C>T) c.*1823+31C>T (n.*1823+31C>T) c.638+31C>T (n.638+31C>T) c.2648+31C>T (n.2648+31C>T) c.2672+31C>T (n.2672+31C>T) c.2669+31C>T (n.2669+31C>T) c.1637+31C>T (n.1637+31C>T) c.1889+31C>T (n.1889+31C>T) n.2702+31C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728992G= | CA2172869147 | CDAN1 | c.2645+31C= (n.2645+31C=) c.*1823+31C= (n.*1823+31C=) c.638+31C= (n.638+31C=) c.2648+31C= (n.2648+31C=) c.2672+31C= (n.2672+31C=) c.2669+31C= (n.2669+31C=) c.1637+31C= (n.1637+31C=) c.1889+31C= (n.1889+31C=) n.2702+31C= | |
| 15 | g.42728992G>T | CA2575698377 | CDAN1 | c.2645+31C>A (n.2645+31C>A) c.*1823+31C>A (n.*1823+31C>A) c.638+31C>A (n.638+31C>A) c.2648+31C>A (n.2648+31C>A) c.2672+31C>A (n.2672+31C>A) c.2669+31C>A (n.2669+31C>A) c.1637+31C>A (n.1637+31C>A) c.1889+31C>A (n.1889+31C>A) n.2702+31C>A | |
| 15 | g.42728993A= | CA2172869148 | CDAN1 | c.2645+30T= (n.2645+30T=) c.*1823+30T= (n.*1823+30T=) c.638+30T= (n.638+30T=) c.2648+30T= (n.2648+30T=) c.2672+30T= (n.2672+30T=) c.2669+30T= (n.2669+30T=) c.1637+30T= (n.1637+30T=) c.1889+30T= (n.1889+30T=) n.2702+30T= | |
| 15 | g.42728993A>G | CA7515538 | CDAN1 | c.2645+30T>C (n.2645+30T>C) c.*1823+30T>C (n.*1823+30T>C) c.638+30T>C (n.638+30T>C) c.2648+30T>C (n.2648+30T>C) c.2672+30T>C (n.2672+30T>C) c.2669+30T>C (n.2669+30T>C) c.1637+30T>C (n.1637+30T>C) c.1889+30T>C (n.1889+30T>C) n.2702+30T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42728995G>A | CA2628070808 | CDAN1 | c.2645+28C>T (n.2645+28C>T) c.*1823+28C>T (n.*1823+28C>T) c.638+28C>T (n.638+28C>T) c.2648+28C>T (n.2648+28C>T) c.2672+28C>T (n.2672+28C>T) c.2669+28C>T (n.2669+28C>T) c.1637+28C>T (n.1637+28C>T) c.1889+28C>T (n.1889+28C>T) n.2702+28C>T | gnomAD v4 |
| 15 | g.42728997G>C | CA2803923068 | CDAN1 | c.2645+26C>G (n.2645+26C>G) c.*1823+26C>G (n.*1823+26C>G) c.638+26C>G (n.638+26C>G) c.2648+26C>G (n.2648+26C>G) c.2672+26C>G (n.2672+26C>G) c.2669+26C>G (n.2669+26C>G) c.1637+26C>G (n.1637+26C>G) c.1889+26C>G (n.1889+26C>G) n.2702+26C>G | |
| 15 | g.42728998A= | CA2172869149 | CDAN1 | c.2645+25T= (n.2645+25T=) c.*1823+25T= (n.*1823+25T=) c.638+25T= (n.638+25T=) c.2648+25T= (n.2648+25T=) c.2672+25T= (n.2672+25T=) c.2669+25T= (n.2669+25T=) c.1637+25T= (n.1637+25T=) c.1889+25T= (n.1889+25T=) n.2702+25T= | |
| 15 | g.42728998A>T | CA2172869150 | CDAN1 | c.2645+25T>A (n.2645+25T>A) c.*1823+25T>A (n.*1823+25T>A) c.638+25T>A (n.638+25T>A) c.2648+25T>A (n.2648+25T>A) c.2672+25T>A (n.2672+25T>A) c.2669+25T>A (n.2669+25T>A) c.1637+25T>A (n.1637+25T>A) c.1889+25T>A (n.1889+25T>A) n.2702+25T>A | dbSNP |
| 15 | g.42728999C>A | CA712945207 | CDAN1 | c.2645+24G>T (n.2645+24G>T) c.*1823+24G>T (n.*1823+24G>T) c.638+24G>T (n.638+24G>T) c.2648+24G>T (n.2648+24G>T) c.2672+24G>T (n.2672+24G>T) c.2669+24G>T (n.2669+24G>T) c.1637+24G>T (n.1637+24G>T) c.1889+24G>T (n.1889+24G>T) n.2702+24G>T | dbSNP gnomAD v4 |
| 15 | g.42728999C= | CA2172869151 | CDAN1 | c.2645+24G= (n.2645+24G=) c.*1823+24G= (n.*1823+24G=) c.638+24G= (n.638+24G=) c.2648+24G= (n.2648+24G=) c.2672+24G= (n.2672+24G=) c.2669+24G= (n.2669+24G=) c.1637+24G= (n.1637+24G=) c.1889+24G= (n.1889+24G=) n.2702+24G= | |
| 15 | g.42728999C>T | CA2628070809 | CDAN1 | c.2645+24G>A (n.2645+24G>A) c.*1823+24G>A (n.*1823+24G>A) c.638+24G>A (n.638+24G>A) c.2648+24G>A (n.2648+24G>A) c.2672+24G>A (n.2672+24G>A) c.2669+24G>A (n.2669+24G>A) c.1637+24G>A (n.1637+24G>A) c.1889+24G>A (n.1889+24G>A) n.2702+24G>A | gnomAD v4 |
| 15 | g.42729000del | CA2575698378 | CDAN1 | c.2645+24del (n.2645+24del) c.*1823+24del (n.*1823+24del) c.638+24del (n.638+24del) c.2648+24del (n.2648+24del) c.2672+24del (n.2672+24del) c.2669+24del (n.2669+24del) c.1637+24del (n.1637+24del) c.1889+24del (n.1889+24del) n.2702+24del | |
| 15 | g.42729000C>A | CA2803923069 | CDAN1 | c.2645+23G>T (n.2645+23G>T) c.*1823+23G>T (n.*1823+23G>T) c.638+23G>T (n.638+23G>T) c.2648+23G>T (n.2648+23G>T) c.2672+23G>T (n.2672+23G>T) c.2669+23G>T (n.2669+23G>T) c.1637+23G>T (n.1637+23G>T) c.1889+23G>T (n.1889+23G>T) n.2702+23G>T | |
| 15 | g.42729000C= | CA2172869152 | CDAN1 | c.2645+23G= (n.2645+23G=) c.*1823+23G= (n.*1823+23G=) c.638+23G= (n.638+23G=) c.2648+23G= (n.2648+23G=) c.2672+23G= (n.2672+23G=) c.2669+23G= (n.2669+23G=) c.1637+23G= (n.1637+23G=) c.1889+23G= (n.1889+23G=) n.2702+23G= | |
| 15 | g.42729000C>T | CA2172869153 | CDAN1 | c.2645+23G>A (n.2645+23G>A) c.*1823+23G>A (n.*1823+23G>A) c.638+23G>A (n.638+23G>A) c.2648+23G>A (n.2648+23G>A) c.2672+23G>A (n.2672+23G>A) c.2669+23G>A (n.2669+23G>A) c.1637+23G>A (n.1637+23G>A) c.1889+23G>A (n.1889+23G>A) n.2702+23G>A | dbSNP |
| 15 | g.42729001A>G | CA2628070810 | CDAN1 | c.2645+22T>C (n.2645+22T>C) c.*1823+22T>C (n.*1823+22T>C) c.638+22T>C (n.638+22T>C) c.2648+22T>C (n.2648+22T>C) c.2672+22T>C (n.2672+22T>C) c.2669+22T>C (n.2669+22T>C) c.1637+22T>C (n.1637+22T>C) c.1889+22T>C (n.1889+22T>C) n.2702+22T>C | gnomAD v4 |
| 15 | g.42729002G>A | CA2628070811 | CDAN1 | c.2645+21C>T (n.2645+21C>T) c.*1823+21C>T (n.*1823+21C>T) c.638+21C>T (n.638+21C>T) c.2648+21C>T (n.2648+21C>T) c.2672+21C>T (n.2672+21C>T) c.2669+21C>T (n.2669+21C>T) c.1637+21C>T (n.1637+21C>T) c.1889+21C>T (n.1889+21C>T) n.2702+21C>T | gnomAD v4 |
| 15 | g.42729006C>A | CA2628070812 | CDAN1 | c.2645+17G>T (n.2645+17G>T) c.*1823+17G>T (n.*1823+17G>T) c.638+17G>T (n.638+17G>T) c.2648+17G>T (n.2648+17G>T) c.2672+17G>T (n.2672+17G>T) c.2669+17G>T (n.2669+17G>T) c.1637+17G>T (n.1637+17G>T) c.1889+17G>T (n.1889+17G>T) n.2702+17G>T | gnomAD v4 |
| 15 | g.42729007C= | CA2172869154 | CDAN1 | c.2645+16G= (n.2645+16G=) c.*1823+16G= (n.*1823+16G=) c.638+16G= (n.638+16G=) c.2648+16G= (n.2648+16G=) c.2672+16G= (n.2672+16G=) c.2669+16G= (n.2669+16G=) c.1637+16G= (n.1637+16G=) c.1889+16G= (n.1889+16G=) n.2702+16G= | |
| 15 | g.42729007C>G | CA7515540 | CDAN1 | c.2645+16G>C (n.2645+16G>C) c.*1823+16G>C (n.*1823+16G>C) c.638+16G>C (n.638+16G>C) c.2648+16G>C (n.2648+16G>C) c.2672+16G>C (n.2672+16G>C) c.2669+16G>C (n.2669+16G>C) c.1637+16G>C (n.1637+16G>C) c.1889+16G>C (n.1889+16G>C) n.2702+16G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729007C>T | CA7515539 | CDAN1 | c.2645+16G>A (n.2645+16G>A) c.*1823+16G>A (n.*1823+16G>A) c.638+16G>A (n.638+16G>A) c.2648+16G>A (n.2648+16G>A) c.2672+16G>A (n.2672+16G>A) c.2669+16G>A (n.2669+16G>A) c.1637+16G>A (n.1637+16G>A) c.1889+16G>A (n.1889+16G>A) n.2702+16G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729008T>C | CA269902910 | CDAN1 | c.2645+15A>G (n.2645+15A>G) c.*1823+15A>G (n.*1823+15A>G) c.638+15A>G (n.638+15A>G) c.2648+15A>G (n.2648+15A>G) c.2672+15A>G (n.2672+15A>G) c.2669+15A>G (n.2669+15A>G) c.1637+15A>G (n.1637+15A>G) c.1889+15A>G (n.1889+15A>G) n.2702+15A>G | dbSNP gnomAD v4 |
| 15 | g.42729008T= | CA2172869155 | CDAN1 | c.2645+15A= (n.2645+15A=) c.*1823+15A= (n.*1823+15A=) c.638+15A= (n.638+15A=) c.2648+15A= (n.2648+15A=) c.2672+15A= (n.2672+15A=) c.2669+15A= (n.2669+15A=) c.1637+15A= (n.1637+15A=) c.1889+15A= (n.1889+15A=) n.2702+15A= | |
| 15 | g.42729009T>A | CA2628070813 | CDAN1 | c.2645+14A>T (n.2645+14A>T) c.*1823+14A>T (n.*1823+14A>T) c.638+14A>T (n.638+14A>T) c.2648+14A>T (n.2648+14A>T) c.2672+14A>T (n.2672+14A>T) c.2669+14A>T (n.2669+14A>T) c.1637+14A>T (n.1637+14A>T) c.1889+14A>T (n.1889+14A>T) n.2702+14A>T | gnomAD v4 |
| 15 | g.42729011A= | CA2172869156 | CDAN1 | c.2645+12T= (n.2645+12T=) c.*1823+12T= (n.*1823+12T=) c.638+12T= (n.638+12T=) c.2648+12T= (n.2648+12T=) c.2672+12T= (n.2672+12T=) c.2669+12T= (n.2669+12T=) c.1637+12T= (n.1637+12T=) c.1889+12T= (n.1889+12T=) n.2702+12T= | |
| 15 | g.42729011A>T | CA7515541 | CDAN1 | c.2645+12T>A (n.2645+12T>A) c.*1823+12T>A (n.*1823+12T>A) c.638+12T>A (n.638+12T>A) c.2648+12T>A (n.2648+12T>A) c.2672+12T>A (n.2672+12T>A) c.2669+12T>A (n.2669+12T>A) c.1637+12T>A (n.1637+12T>A) c.1889+12T>A (n.1889+12T>A) n.2702+12T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729012C>A | CA712945214 | CDAN1 | c.2645+11G>T (n.2645+11G>T) c.*1823+11G>T (n.*1823+11G>T) c.638+11G>T (n.638+11G>T) c.2648+11G>T (n.2648+11G>T) c.2672+11G>T (n.2672+11G>T) c.2669+11G>T (n.2669+11G>T) c.1637+11G>T (n.1637+11G>T) c.1889+11G>T (n.1889+11G>T) n.2702+11G>T | dbSNP gnomAD v4 |
| 15 | g.42729012C= | CA2172869157 | CDAN1 | c.2645+11G= (n.2645+11G=) c.*1823+11G= (n.*1823+11G=) c.638+11G= (n.638+11G=) c.2648+11G= (n.2648+11G=) c.2672+11G= (n.2672+11G=) c.2669+11G= (n.2669+11G=) c.1637+11G= (n.1637+11G=) c.1889+11G= (n.1889+11G=) n.2702+11G= | |
| 15 | g.42729013C= | CA2172869158 | CDAN1 | c.2645+10G= (n.2645+10G=) c.*1823+10G= (n.*1823+10G=) c.638+10G= (n.638+10G=) c.2648+10G= (n.2648+10G=) c.2672+10G= (n.2672+10G=) c.2669+10G= (n.2669+10G=) c.1637+10G= (n.1637+10G=) c.1889+10G= (n.1889+10G=) n.2702+10G= | |
| 15 | g.42729013C>G | CA7515543 | CDAN1 | c.2645+10G>C (n.2645+10G>C) c.*1823+10G>C (n.*1823+10G>C) c.638+10G>C (n.638+10G>C) c.2648+10G>C (n.2648+10G>C) c.2672+10G>C (n.2672+10G>C) c.2669+10G>C (n.2669+10G>C) c.1637+10G>C (n.1637+10G>C) c.1889+10G>C (n.1889+10G>C) n.2702+10G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729013C>T | CA7515542 | CDAN1 | c.2645+10G>A (n.2645+10G>A) c.*1823+10G>A (n.*1823+10G>A) c.638+10G>A (n.638+10G>A) c.2648+10G>A (n.2648+10G>A) c.2672+10G>A (n.2672+10G>A) c.2669+10G>A (n.2669+10G>A) c.1637+10G>A (n.1637+10G>A) c.1889+10G>A (n.1889+10G>A) n.2702+10G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729014C= | CA2172869159 | CDAN1 | c.2645+9G= (n.2645+9G=) c.*1823+9G= (n.*1823+9G=) c.638+9G= (n.638+9G=) c.2648+9G= (n.2648+9G=) c.2672+9G= (n.2672+9G=) c.2669+9G= (n.2669+9G=) c.1637+9G= (n.1637+9G=) c.1889+9G= (n.1889+9G=) n.2702+9G= | |
| 15 | g.42729014C>T | CA7515544 | CDAN1 | c.2645+9G>A (n.2645+9G>A) c.*1823+9G>A (n.*1823+9G>A) c.638+9G>A (n.638+9G>A) c.2648+9G>A (n.2648+9G>A) c.2672+9G>A (n.2672+9G>A) c.2669+9G>A (n.2669+9G>A) c.1637+9G>A (n.1637+9G>A) c.1889+9G>A (n.1889+9G>A) n.2702+9G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729015A>C | CA2628070814 | CDAN1 | c.2645+8T>G (n.2645+8T>G) c.*1823+8T>G (n.*1823+8T>G) c.638+8T>G (n.638+8T>G) c.2648+8T>G (n.2648+8T>G) c.2672+8T>G (n.2672+8T>G) c.2669+8T>G (n.2669+8T>G) c.1637+8T>G (n.1637+8T>G) c.1889+8T>G (n.1889+8T>G) n.2702+8T>G | gnomAD v4 |
| 15 | g.42729016C= | CA2172869160 | CDAN1 | c.2645+7G= (n.2645+7G=) c.*1823+7G= (n.*1823+7G=) c.638+7G= (n.638+7G=) c.2648+7G= (n.2648+7G=) c.2672+7G= (n.2672+7G=) c.2669+7G= (n.2669+7G=) c.1637+7G= (n.1637+7G=) c.1889+7G= (n.1889+7G=) n.2702+7G= | |
| 15 | g.42729016C>T | CA2575698380 | CDAN1 | c.2645+7G>A (n.2645+7G>A) c.*1823+7G>A (n.*1823+7G>A) c.638+7G>A (n.638+7G>A) c.2648+7G>A (n.2648+7G>A) c.2672+7G>A (n.2672+7G>A) c.2669+7G>A (n.2669+7G>A) c.1637+7G>A (n.1637+7G>A) c.1889+7G>A (n.1889+7G>A) n.2702+7G>A | |
| 15 | g.42729018_42729019del | CA2575698379 | CDAN1 | c.2645+6_2645+7del (n.2645+6_2645+7del) c.*1823+6_*1823+7del (n.*1823+6_*1823+7del) c.638+6_638+7del (n.638+6_638+7del) c.2648+6_2648+7del (n.2648+6_2648+7del) c.2672+6_2672+7del (n.2672+6_2672+7del) c.2669+6_2669+7del (n.2669+6_2669+7del) c.1637+6_1637+7del (n.1637+6_1637+7del) c.1889+6_1889+7del (n.1889+6_1889+7del) n.2702+6_2702+7del | |
| 15 | g.42729017dup | CA712945226 | CDAN1 | c.2645+6dup (n.2645+6dup) c.*1823+6dup (n.*1823+6dup) c.638+6dup (n.638+6dup) c.2648+6dup (n.2648+6dup) c.2672+6dup (n.2672+6dup) c.2669+6dup (n.2669+6dup) c.1637+6dup (n.1637+6dup) c.1889+6dup (n.1889+6dup) n.2702+6dup | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42729018C= | CA2172869161 | CDAN1 | c.2645+5G= (n.2645+5G=) c.*1823+5G= (n.*1823+5G=) c.638+5G= (n.638+5G=) c.2648+5G= (n.2648+5G=) c.2672+5G= (n.2672+5G=) c.2669+5G= (n.2669+5G=) c.1637+5G= (n.1637+5G=) c.1889+5G= (n.1889+5G=) n.2702+5G= | |
| 15 | g.42729018C>G | CA7515545 | CDAN1 | c.2645+5G>C (n.2645+5G>C) c.*1823+5G>C (n.*1823+5G>C) c.638+5G>C (n.638+5G>C) c.2648+5G>C (n.2648+5G>C) c.2672+5G>C (n.2672+5G>C) c.2669+5G>C (n.2669+5G>C) c.1637+5G>C (n.1637+5G>C) c.1889+5G>C (n.1889+5G>C) n.2702+5G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729019T>C | CA269902932 | CDAN1 | c.2645+4A>G (n.2645+4A>G) c.*1823+4A>G (n.*1823+4A>G) c.638+4A>G (n.638+4A>G) c.2648+4A>G (n.2648+4A>G) c.2672+4A>G (n.2672+4A>G) c.2669+4A>G (n.2669+4A>G) c.1637+4A>G (n.1637+4A>G) c.1889+4A>G (n.1889+4A>G) n.2702+4A>G | dbSNP gnomAD v4 |
| 15 | g.42729019T= | CA2172869162 | CDAN1 | c.2645+4A= (n.2645+4A=) c.*1823+4A= (n.*1823+4A=) c.638+4A= (n.638+4A=) c.2648+4A= (n.2648+4A=) c.2672+4A= (n.2672+4A=) c.2669+4A= (n.2669+4A=) c.1637+4A= (n.1637+4A=) c.1889+4A= (n.1889+4A=) n.2702+4A= | |
| 15 | g.42729020T>C | CA7515546 | CDAN1 | c.2645+3A>G (n.2645+3A>G) c.*1823+3A>G (n.*1823+3A>G) c.638+3A>G (n.638+3A>G) c.2648+3A>G (n.2648+3A>G) c.2672+3A>G (n.2672+3A>G) c.2669+3A>G (n.2669+3A>G) c.1637+3A>G (n.1637+3A>G) c.1889+3A>G (n.1889+3A>G) n.2702+3A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729020T= | CA2172869163 | CDAN1 | c.2645+3A= (n.2645+3A=) c.*1823+3A= (n.*1823+3A=) c.638+3A= (n.638+3A=) c.2648+3A= (n.2648+3A=) c.2672+3A= (n.2672+3A=) c.2669+3A= (n.2669+3A=) c.1637+3A= (n.1637+3A=) c.1889+3A= (n.1889+3A=) n.2702+3A= | |
| 15 | g.42729021A= | CA2172869164 | CDAN1 | c.2645+2T= (n.2645+2T=) c.*1823+2T= (n.*1823+2T=) c.638+2T= (n.638+2T=) c.2648+2T= (n.2648+2T=) c.2672+2T= (n.2672+2T=) c.2669+2T= (n.2669+2T=) c.1637+2T= (n.1637+2T=) c.1889+2T= (n.1889+2T=) n.2702+2T= | |
| 15 | g.42729021A>C | CA392036702 | CDAN1 | c.2645+2T>G (n.2645+2T>G) c.*1823+2T>G (n.*1823+2T>G) c.638+2T>G (n.638+2T>G) c.2648+2T>G (n.2648+2T>G) c.2672+2T>G (n.2672+2T>G) c.2669+2T>G (n.2669+2T>G) c.1637+2T>G (n.1637+2T>G) c.1889+2T>G (n.1889+2T>G) n.2702+2T>G | |
| 15 | g.42729021A>G | CA392036703 | CDAN1 | c.2645+2T>C (n.2645+2T>C) c.*1823+2T>C (n.*1823+2T>C) c.638+2T>C (n.638+2T>C) c.2648+2T>C (n.2648+2T>C) c.2672+2T>C (n.2672+2T>C) c.2669+2T>C (n.2669+2T>C) c.1637+2T>C (n.1637+2T>C) c.1889+2T>C (n.1889+2T>C) n.2702+2T>C | dbSNP gnomAD v4 |
| 15 | g.42729021A>T | CA392036707 | CDAN1 | c.2645+2T>A (n.2645+2T>A) c.*1823+2T>A (n.*1823+2T>A) c.638+2T>A (n.638+2T>A) c.2648+2T>A (n.2648+2T>A) c.2672+2T>A (n.2672+2T>A) c.2669+2T>A (n.2669+2T>A) c.1637+2T>A (n.1637+2T>A) c.1889+2T>A (n.1889+2T>A) n.2702+2T>A | dbSNP |
| 15 | g.42729021dup | CA7515547 | CDAN1 | c.2645+2dup (n.2645+2dup) c.*1823+2dup (n.*1823+2dup) c.638+2dup (n.638+2dup) c.2648+2dup (n.2648+2dup) c.2672+2dup (n.2672+2dup) c.2669+2dup (n.2669+2dup) c.1637+2dup (n.1637+2dup) c.1889+2dup (n.1889+2dup) n.2702+2dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729022C>A | CA392036715 | CDAN1 | c.2645+1G>T (n.2645+1G>T) c.*1823+1G>T (n.*1823+1G>T) c.638+1G>T (n.638+1G>T) c.2648+1G>T (n.2648+1G>T) c.2672+1G>T (n.2672+1G>T) c.2669+1G>T (n.2669+1G>T) c.1637+1G>T (n.1637+1G>T) c.1889+1G>T (n.1889+1G>T) n.2702+1G>T | |
| 15 | g.42729022C= | CA2172869165 | CDAN1 | c.2645+1G= (n.2645+1G=) c.*1823+1G= (n.*1823+1G=) c.638+1G= (n.638+1G=) c.2648+1G= (n.2648+1G=) c.2672+1G= (n.2672+1G=) c.2669+1G= (n.2669+1G=) c.1637+1G= (n.1637+1G=) c.1889+1G= (n.1889+1G=) n.2702+1G= | |
| 15 | g.42729022C>G | CA392036717 | CDAN1 | c.2645+1G>C (n.2645+1G>C) c.*1823+1G>C (n.*1823+1G>C) c.638+1G>C (n.638+1G>C) c.2648+1G>C (n.2648+1G>C) c.2672+1G>C (n.2672+1G>C) c.2669+1G>C (n.2669+1G>C) c.1637+1G>C (n.1637+1G>C) c.1889+1G>C (n.1889+1G>C) n.2702+1G>C | |
| 15 | g.42729022C>T | CA392036719 | CDAN1 | c.2645+1G>A (n.2645+1G>A) c.*1823+1G>A (n.*1823+1G>A) c.638+1G>A (n.638+1G>A) c.2648+1G>A (n.2648+1G>A) c.2672+1G>A (n.2672+1G>A) c.2669+1G>A (n.2669+1G>A) c.1637+1G>A (n.1637+1G>A) c.1889+1G>A (n.1889+1G>A) n.2702+1G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42729023T>A | CA392036726 | CDAN1 | c.2645A>T (p.Lys882Met) c.*1823A>T (n.*1823A>T) c.638A>T (p.Lys213Met) c.2648A>T (p.Lys883Met) c.2672A>T (p.Lys891Met) c.2669A>T (p.Lys890Met) c.1637A>T (p.Lys546Met) c.1889A>T (p.Lys630Met) n.2702A>T | |
| 15 | g.42729023T>C | CA392036728 | CDAN1 | c.2645A>G (p.Lys882Arg) c.*1823A>G (n.*1823A>G) c.638A>G (p.Lys213Arg) c.2648A>G (p.Lys883Arg) c.2672A>G (p.Lys891Arg) c.2669A>G (p.Lys890Arg) c.1637A>G (p.Lys546Arg) c.1889A>G (p.Lys630Arg) n.2702A>G | |
| 15 | g.42729023T>G | CA392036722 | CDAN1 | c.2645A>C (p.Lys882Thr) c.*1823A>C (n.*1823A>C) c.638A>C (p.Lys213Thr) c.2648A>C (p.Lys883Thr) c.2672A>C (p.Lys891Thr) c.2669A>C (p.Lys890Thr) c.1637A>C (p.Lys546Thr) c.1889A>C (p.Lys630Thr) n.2702A>C | |
| 15 | g.42729024T>A | CA392036733 | CDAN1 | c.2644A>T (p.Lys882Ter) c.*1822A>T (n.*1822A>T) c.637A>T (p.Lys213Ter) c.2647A>T (p.Lys883Ter) c.2671A>T (p.Lys891Ter) c.2668A>T (p.Lys890Ter) c.1636A>T (p.Lys546Ter) c.1888A>T (p.Lys630Ter) n.2701A>T | |
| 15 | g.42729024T>C | CA392036736 | CDAN1 | c.2644A>G (p.Lys882Glu) c.*1822A>G (n.*1822A>G) c.637A>G (p.Lys213Glu) c.2647A>G (p.Lys883Glu) c.2671A>G (p.Lys891Glu) c.2668A>G (p.Lys890Glu) c.1636A>G (p.Lys546Glu) c.1888A>G (p.Lys630Glu) n.2701A>G | |
| 15 | g.42729024T>G | CA392036738 | CDAN1 | c.2644A>C (p.Lys882Gln) c.*1822A>C (n.*1822A>C) c.637A>C (p.Lys213Gln) c.2647A>C (p.Lys883Gln) c.2671A>C (p.Lys891Gln) c.2668A>C (p.Lys890Gln) c.1636A>C (p.Lys546Gln) c.1888A>C (p.Lys630Gln) n.2701A>C | gnomAD v4 |
| 15 | g.42729024_42729025insA | CA2628070817 | CDAN1 | c.2643_2644insT (p.Lys882Ter) c.*1821_*1822insT (n.*1821_*1822insT) c.636_637insT (p.Lys213Ter) c.2646_2647insT (p.Lys883Ter) c.2670_2671insT (p.Lys891Ter) c.2667_2668insT (p.Lys890Ter) c.1635_1636insT (p.Lys546Ter) c.1887_1888insT (p.Lys630Ter) n.2700_2701insT | gnomAD v4 |
| 15 | g.42729025G>A | CA490001934 | CDAN1 | c.2643C>T (p.Ile881=) c.*1821C>T (n.*1821C>T) c.636C>T (p.Ile212=) c.2646C>T (p.Ile882=) c.2670C>T (p.Ile890=) c.2667C>T (p.Ile889=) c.1635C>T (p.Ile545=) c.1887C>T (p.Ile629=) n.2700C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729025G>C | CA7515548 | CDAN1 | c.2643C>G (p.Ile881Met) c.*1821C>G (n.*1821C>G) c.636C>G (p.Ile212Met) c.2646C>G (p.Ile882Met) c.2670C>G (p.Ile890Met) c.2667C>G (p.Ile889Met) c.1635C>G (p.Ile545Met) c.1887C>G (p.Ile629Met) n.2700C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729025G= | CA2172869166 | CDAN1 | c.2643C= (p.Ile881=) c.*1821C= (n.*1821C=) c.636C= (p.Ile212=) c.2646C= (p.Ile882=) c.2670C= (p.Ile890=) c.2667C= (p.Ile889=) c.1635C= (p.Ile545=) c.1887C= (p.Ile629=) n.2700C= | |
| 15 | g.42729025G>T | CA490001935 | CDAN1 | c.2643C>A (p.Ile881=) c.*1821C>A (n.*1821C>A) c.636C>A (p.Ile212=) c.2646C>A (p.Ile882=) c.2670C>A (p.Ile890=) c.2667C>A (p.Ile889=) c.1635C>A (p.Ile545=) c.1887C>A (p.Ile629=) n.2700C>A | |
| 15 | g.42729026A= | CA2172869167 | CDAN1 | c.2642T= (p.Ile881=) c.*1820T= (n.*1820T=) c.635T= (p.Ile212=) c.2645T= (p.Ile882=) c.2669T= (p.Ile890=) c.2666T= (p.Ile889=) c.1634T= (p.Ile545=) c.1886T= (p.Ile629=) n.2699T= | |
| 15 | g.42729026A>C | CA392036748 | CDAN1 | c.2642T>G (p.Ile881Ser) c.*1820T>G (n.*1820T>G) c.635T>G (p.Ile212Ser) c.2645T>G (p.Ile882Ser) c.2669T>G (p.Ile890Ser) c.2666T>G (p.Ile889Ser) c.1634T>G (p.Ile545Ser) c.1886T>G (p.Ile629Ser) n.2699T>G | |
| 15 | g.42729026A>G | CA7515549 | CDAN1 | c.2642T>C (p.Ile881Thr) c.*1820T>C (n.*1820T>C) c.635T>C (p.Ile212Thr) c.2645T>C (p.Ile882Thr) c.2669T>C (p.Ile890Thr) c.2666T>C (p.Ile889Thr) c.1634T>C (p.Ile545Thr) c.1886T>C (p.Ile629Thr) n.2699T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729026A>T | CA392036754 | CDAN1 | c.2642T>A (p.Ile881Asn) c.*1820T>A (n.*1820T>A) c.635T>A (p.Ile212Asn) c.2645T>A (p.Ile882Asn) c.2669T>A (p.Ile890Asn) c.2666T>A (p.Ile889Asn) c.1634T>A (p.Ile545Asn) c.1886T>A (p.Ile629Asn) n.2699T>A | gnomAD v4 |
| 15 | g.42729028_42729029del | CA2628070819 | CDAN1 | c.2641_2642del (p.Ile881GlnfsTer?) c.*1819_*1820del (n.*1819_*1820del) c.634_635del (p.Ile212GlnfsTer?) c.2644_2645del (p.Ile882GlnfsTer?) c.2668_2669del (p.Ile890GlnfsTer?) c.2665_2666del (p.Ile889GlnfsTer?) c.1633_1634del (p.Ile545GlnfsTer?) c.1885_1886del (p.Ile629GlnfsTer?) n.2698_2699del | gnomAD v4 |
| 15 | g.42729026_42729032del | CA2628070818 | CDAN1 | c.2636_2642del (p.Lys879ThrfsTer22) c.*1814_*1820del (n.*1814_*1820del) c.629_635del (p.Lys210ThrfsTer22) c.2639_2645del (p.Lys880ThrfsTer22) c.2663_2669del (p.Lys888ThrfsTer22) c.2660_2666del (p.Lys887ThrfsTer22) c.1628_1634del (p.Lys543ThrfsTer22) c.1880_1886del (p.Lys627ThrfsTer22) n.2693_2699del | gnomAD v4 |
| 15 | g.42729027T>A | CA392036760 | CDAN1 | c.2641A>T (p.Ile881Phe) c.*1819A>T (n.*1819A>T) c.634A>T (p.Ile212Phe) c.2644A>T (p.Ile882Phe) c.2668A>T (p.Ile890Phe) c.2665A>T (p.Ile889Phe) c.1633A>T (p.Ile545Phe) c.1885A>T (p.Ile629Phe) n.2698A>T | gnomAD v4 |
| 15 | g.42729027T>C | CA392036767 | CDAN1 | c.2641A>G (p.Ile881Val) c.*1819A>G (n.*1819A>G) c.634A>G (p.Ile212Val) c.2644A>G (p.Ile882Val) c.2668A>G (p.Ile890Val) c.2665A>G (p.Ile889Val) c.1633A>G (p.Ile545Val) c.1885A>G (p.Ile629Val) n.2698A>G | gnomAD v4 |
| 15 | g.42729027T>G | CA392036763 | CDAN1 | c.2641A>C (p.Ile881Leu) c.*1819A>C (n.*1819A>C) c.634A>C (p.Ile212Leu) c.2644A>C (p.Ile882Leu) c.2668A>C (p.Ile890Leu) c.2665A>C (p.Ile889Leu) c.1633A>C (p.Ile545Leu) c.1885A>C (p.Ile629Leu) n.2698A>C | |
| 15 | g.42729028A>C | CA392036772 | CDAN1 | c.2640T>G (p.His880Gln) c.*1818T>G (n.*1818T>G) c.633T>G (p.His211Gln) c.2643T>G (p.His881Gln) c.2667T>G (p.His889Gln) c.2664T>G (p.His888Gln) c.1632T>G (p.His544Gln) c.1884T>G (p.His628Gln) n.2697T>G | |
| 15 | g.42729028A>G | CA490001936 | CDAN1 | c.2640T>C (p.His880=) c.*1818T>C (n.*1818T>C) c.633T>C (p.His211=) c.2643T>C (p.His881=) c.2667T>C (p.His889=) c.2664T>C (p.His888=) c.1632T>C (p.His544=) c.1884T>C (p.His628=) n.2697T>C | |
| 15 | g.42729028A>T | CA392036775 | CDAN1 | c.2640T>A (p.His880Gln) c.*1818T>A (n.*1818T>A) c.633T>A (p.His211Gln) c.2643T>A (p.His881Gln) c.2667T>A (p.His889Gln) c.2664T>A (p.His888Gln) c.1632T>A (p.His544Gln) c.1884T>A (p.His628Gln) n.2697T>A | |
| 15 | g.42729029T>A | CA392036777 | CDAN1 | c.2639A>T (p.His880Leu) c.*1817A>T (n.*1817A>T) c.632A>T (p.His211Leu) c.2642A>T (p.His881Leu) c.2666A>T (p.His889Leu) c.2663A>T (p.His888Leu) c.1631A>T (p.His544Leu) c.1883A>T (p.His628Leu) n.2696A>T | gnomAD v4 |
| 15 | g.42729029T>C | CA392036780 | CDAN1 | c.2639A>G (p.His880Arg) c.*1817A>G (n.*1817A>G) c.632A>G (p.His211Arg) c.2642A>G (p.His881Arg) c.2666A>G (p.His889Arg) c.2663A>G (p.His888Arg) c.1631A>G (p.His544Arg) c.1883A>G (p.His628Arg) n.2696A>G | gnomAD v4 |
| 15 | g.42729029T>G | CA392036785 | CDAN1 | c.2639A>C (p.His880Pro) c.*1817A>C (n.*1817A>C) c.632A>C (p.His211Pro) c.2642A>C (p.His881Pro) c.2666A>C (p.His889Pro) c.2663A>C (p.His888Pro) c.1631A>C (p.His544Pro) c.1883A>C (p.His628Pro) n.2696A>C | |
| 15 | g.42729029_42729030insA | CA2628070820 | CDAN1 | c.2638_2639insT (p.His880LeufsTer?) c.*1816_*1817insT (n.*1816_*1817insT) c.631_632insT (p.His211LeufsTer?) c.2641_2642insT (p.His881LeufsTer?) c.2665_2666insT (p.His889LeufsTer?) c.2662_2663insT (p.His888LeufsTer?) c.1630_1631insT (p.His544LeufsTer?) c.1882_1883insT (p.His628LeufsTer?) n.2695_2696insT | gnomAD v4 |
| 15 | g.42729030G>A | CA392036789 | CDAN1 | c.2638C>T (p.His880Tyr) c.*1816C>T (n.*1816C>T) c.631C>T (p.His211Tyr) c.2641C>T (p.His881Tyr) c.2665C>T (p.His889Tyr) c.2662C>T (p.His888Tyr) c.1630C>T (p.His544Tyr) c.1882C>T (p.His628Tyr) n.2695C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729030G>C | CA392036794 | CDAN1 | c.2638C>G (p.His880Asp) c.*1816C>G (n.*1816C>G) c.631C>G (p.His211Asp) c.2641C>G (p.His881Asp) c.2665C>G (p.His889Asp) c.2662C>G (p.His888Asp) c.1630C>G (p.His544Asp) c.1882C>G (p.His628Asp) n.2695C>G | gnomAD v4 |
| 15 | g.42729030G= | CA2172869168 | CDAN1 | c.2638C= (p.His880=) c.*1816C= (n.*1816C=) c.631C= (p.His211=) c.2641C= (p.His881=) c.2665C= (p.His889=) c.2662C= (p.His888=) c.1630C= (p.His544=) c.1882C= (p.His628=) n.2695C= | |
| 15 | g.42729030G>T | CA392036791 | CDAN1 | c.2638C>A (p.His880Asn) c.*1816C>A (n.*1816C>A) c.631C>A (p.His211Asn) c.2641C>A (p.His881Asn) c.2665C>A (p.His889Asn) c.2662C>A (p.His888Asn) c.1630C>A (p.His544Asn) c.1882C>A (p.His628Asn) n.2695C>A | |
| 15 | g.42729031T>A | CA392036799 | CDAN1 | c.2637A>T (p.Lys879Asn) c.*1815A>T (n.*1815A>T) c.630A>T (p.Lys210Asn) c.2640A>T (p.Lys880Asn) c.2664A>T (p.Lys888Asn) c.2661A>T (p.Lys887Asn) c.1629A>T (p.Lys543Asn) c.1881A>T (p.Lys627Asn) n.2694A>T | |
| 15 | g.42729031T>C | CA490001937 | CDAN1 | c.2637A>G (p.Lys879=) c.*1815A>G (n.*1815A>G) c.630A>G (p.Lys210=) c.2640A>G (p.Lys880=) c.2664A>G (p.Lys888=) c.2661A>G (p.Lys887=) c.1629A>G (p.Lys543=) c.1881A>G (p.Lys627=) n.2694A>G | |
| 15 | g.42729031T>G | CA392036802 | CDAN1 | c.2637A>C (p.Lys879Asn) c.*1815A>C (n.*1815A>C) c.630A>C (p.Lys210Asn) c.2640A>C (p.Lys880Asn) c.2664A>C (p.Lys888Asn) c.2661A>C (p.Lys887Asn) c.1629A>C (p.Lys543Asn) c.1881A>C (p.Lys627Asn) n.2694A>C | |
| 15 | g.42729032T>A | CA392036807 | CDAN1 | c.2636A>T (p.Lys879Ile) c.*1814A>T (n.*1814A>T) c.629A>T (p.Lys210Ile) c.2639A>T (p.Lys880Ile) c.2663A>T (p.Lys888Ile) c.2660A>T (p.Lys887Ile) c.1628A>T (p.Lys543Ile) c.1880A>T (p.Lys627Ile) n.2693A>T | |
| 15 | g.42729032T>C | CA392036810 | CDAN1 | c.2636A>G (p.Lys879Arg) c.*1814A>G (n.*1814A>G) c.629A>G (p.Lys210Arg) c.2639A>G (p.Lys880Arg) c.2663A>G (p.Lys888Arg) c.2660A>G (p.Lys887Arg) c.1628A>G (p.Lys543Arg) c.1880A>G (p.Lys627Arg) n.2693A>G | |
| 15 | g.42729032T>G | CA392036813 | CDAN1 | c.2636A>C (p.Lys879Thr) c.*1814A>C (n.*1814A>C) c.629A>C (p.Lys210Thr) c.2639A>C (p.Lys880Thr) c.2663A>C (p.Lys888Thr) c.2660A>C (p.Lys887Thr) c.1628A>C (p.Lys543Thr) c.1880A>C (p.Lys627Thr) n.2693A>C | |
| 15 | g.42729033T>A | CA392036817 | CDAN1 | c.2635A>T (p.Lys879Ter) c.*1813A>T (n.*1813A>T) c.628A>T (p.Lys210Ter) c.2638A>T (p.Lys880Ter) c.2662A>T (p.Lys888Ter) c.2659A>T (p.Lys887Ter) c.1627A>T (p.Lys543Ter) c.1879A>T (p.Lys627Ter) n.2692A>T | |
| 15 | g.42729033T>C | CA392036820 | CDAN1 | c.2635A>G (p.Lys879Glu) c.*1813A>G (n.*1813A>G) c.628A>G (p.Lys210Glu) c.2638A>G (p.Lys880Glu) c.2662A>G (p.Lys888Glu) c.2659A>G (p.Lys887Glu) c.1627A>G (p.Lys543Glu) c.1879A>G (p.Lys627Glu) n.2692A>G | gnomAD v4 |
| 15 | g.42729033T>G | CA392036823 | CDAN1 | c.2635A>C (p.Lys879Gln) c.*1813A>C (n.*1813A>C) c.628A>C (p.Lys210Gln) c.2638A>C (p.Lys880Gln) c.2662A>C (p.Lys888Gln) c.2659A>C (p.Lys887Gln) c.1627A>C (p.Lys543Gln) c.1879A>C (p.Lys627Gln) n.2692A>C | |
| 15 | g.42729034G>A | CA7515550 | CDAN1 | c.2634C>T (p.Val878=) c.*1812C>T (n.*1812C>T) c.627C>T (p.Val209=) c.2637C>T (p.Val879=) c.2661C>T (p.Val887=) c.2658C>T (p.Val886=) c.1626C>T (p.Val542=) c.1878C>T (p.Val626=) n.2691C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729034G>C | CA490001938 | CDAN1 | c.2634C>G (p.Val878=) c.*1812C>G (n.*1812C>G) c.627C>G (p.Val209=) c.2637C>G (p.Val879=) c.2661C>G (p.Val887=) c.2658C>G (p.Val886=) c.1626C>G (p.Val542=) c.1878C>G (p.Val626=) n.2691C>G | gnomAD v4 |
| 15 | g.42729034G= | CA2172869170 | CDAN1 | c.2634C= (p.Val878=) c.*1812C= (n.*1812C=) c.627C= (p.Val209=) c.2637C= (p.Val879=) c.2661C= (p.Val887=) c.2658C= (p.Val886=) c.1626C= (p.Val542=) c.1878C= (p.Val626=) n.2691C= | |
| 15 | g.42729034G>T | CA490001939 | CDAN1 | c.2634C>A (p.Val878=) c.*1812C>A (n.*1812C>A) c.627C>A (p.Val209=) c.2637C>A (p.Val879=) c.2661C>A (p.Val887=) c.2658C>A (p.Val886=) c.1626C>A (p.Val542=) c.1878C>A (p.Val626=) n.2691C>A | |
| 15 | g.42729034_42729036delinsGAC | CA2172869169 | CDAN1 | c.2632_2634delinsGTC (p.Val878=) c.*1810_*1812delinsGTC (n.*1810_*1812delinsGTC) c.625_627delinsGTC (p.Val209=) c.2635_2637delinsGTC (p.Val879=) c.2659_2661delinsGTC (p.Val887=) c.2656_2658delinsGTC (p.Val886=) c.1624_1626delinsGTC (p.Val542=) c.1876_1878delinsGTC (p.Val626=) n.2689_2691delinsGTC | |
| 15 | g.42729035A>C | CA392036827 | CDAN1 | c.2633T>G (p.Val878Gly) c.*1811T>G (n.*1811T>G) c.626T>G (p.Val209Gly) c.2636T>G (p.Val879Gly) c.2660T>G (p.Val887Gly) c.2657T>G (p.Val886Gly) c.1625T>G (p.Val542Gly) c.1877T>G (p.Val626Gly) n.2690T>G | |
| 15 | g.42729035A>G | CA392036831 | CDAN1 | c.2633T>C (p.Val878Ala) c.*1811T>C (n.*1811T>C) c.626T>C (p.Val209Ala) c.2636T>C (p.Val879Ala) c.2660T>C (p.Val887Ala) c.2657T>C (p.Val886Ala) c.1625T>C (p.Val542Ala) c.1877T>C (p.Val626Ala) n.2690T>C | |
| 15 | g.42729035A>T | CA392036834 | CDAN1 | c.2633T>A (p.Val878Asp) c.*1811T>A (n.*1811T>A) c.626T>A (p.Val209Asp) c.2636T>A (p.Val879Asp) c.2660T>A (p.Val887Asp) c.2657T>A (p.Val886Asp) c.1625T>A (p.Val542Asp) c.1877T>A (p.Val626Asp) n.2690T>A | |
| 15 | g.42729038_42729039dup | CA618002287 | CDAN1 | c.2632_2633dup (p.Lys879SerfsTer25) c.*1810_*1811dup (n.*1810_*1811dup) c.625_626dup (p.Lys210SerfsTer25) c.2635_2636dup (p.Lys880SerfsTer25) c.2659_2660dup (p.Lys888SerfsTer25) c.2656_2657dup (p.Lys887SerfsTer25) c.1624_1625dup (p.Lys543SerfsTer25) c.1876_1877dup (p.Lys627SerfsTer25) n.2689_2690dup | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729038_42729039del | CA7515551 | CDAN1 | c.2632_2633del (p.Val878GlnfsTer?) c.*1810_*1811del (n.*1810_*1811del) c.625_626del (p.Val209GlnfsTer?) c.2635_2636del (p.Val879GlnfsTer?) c.2659_2660del (p.Val887GlnfsTer?) c.2656_2657del (p.Val886GlnfsTer?) c.1624_1625del (p.Val542GlnfsTer?) c.1876_1877del (p.Val626GlnfsTer?) n.2689_2690del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729036C>A | CA392036851 | CDAN1 | c.2632G>T (p.Val878Phe) c.*1810G>T (n.*1810G>T) c.625G>T (p.Val209Phe) c.2635G>T (p.Val879Phe) c.2659G>T (p.Val887Phe) c.2656G>T (p.Val886Phe) c.1624G>T (p.Val542Phe) c.1876G>T (p.Val626Phe) n.2689G>T | |
| 15 | g.42729036C>G | CA392036841 | CDAN1 | c.2632G>C (p.Val878Leu) c.*1810G>C (n.*1810G>C) c.625G>C (p.Val209Leu) c.2635G>C (p.Val879Leu) c.2659G>C (p.Val887Leu) c.2656G>C (p.Val886Leu) c.1624G>C (p.Val542Leu) c.1876G>C (p.Val626Leu) n.2689G>C | gnomAD v4 |
| 15 | g.42729036C>T | CA392036847 | CDAN1 | c.2632G>A (p.Val878Ile) c.*1810G>A (n.*1810G>A) c.625G>A (p.Val209Ile) c.2635G>A (p.Val879Ile) c.2659G>A (p.Val887Ile) c.2656G>A (p.Val886Ile) c.1624G>A (p.Val542Ile) c.1876G>A (p.Val626Ile) n.2689G>A | |
| 15 | g.42729037A= | CA2172869171 | CDAN1 | c.2631T= (p.Cys877=) c.*1809T= (n.*1809T=) c.624T= (p.Cys208=) c.2634T= (p.Cys878=) c.2658T= (p.Cys886=) c.2655T= (p.Cys885=) c.1623T= (p.Cys541=) c.1875T= (p.Cys625=) n.2688T= | |
| 15 | g.42729037A>C | CA392036859 | CDAN1 | c.2631T>G (p.Cys877Trp) c.*1809T>G (n.*1809T>G) c.624T>G (p.Cys208Trp) c.2634T>G (p.Cys878Trp) c.2658T>G (p.Cys886Trp) c.2655T>G (p.Cys885Trp) c.1623T>G (p.Cys541Trp) c.1875T>G (p.Cys625Trp) n.2688T>G | dbSNP |
| 15 | g.42729037A>G | CA490001940 | CDAN1 | c.2631T>C (p.Cys877=) c.*1809T>C (n.*1809T>C) c.624T>C (p.Cys208=) c.2634T>C (p.Cys878=) c.2658T>C (p.Cys886=) c.2655T>C (p.Cys885=) c.1623T>C (p.Cys541=) c.1875T>C (p.Cys625=) n.2688T>C | dbSNP gnomAD v4 |
| 15 | g.42729037A>T | CA392036863 | CDAN1 | c.2631T>A (p.Cys877Ter) c.*1809T>A (n.*1809T>A) c.624T>A (p.Cys208Ter) c.2634T>A (p.Cys878Ter) c.2658T>A (p.Cys886Ter) c.2655T>A (p.Cys885Ter) c.1623T>A (p.Cys541Ter) c.1875T>A (p.Cys625Ter) n.2688T>A | |
| 15 | g.42729038C>A | CA392036867 | CDAN1 | c.2630G>T (p.Cys877Phe) c.*1808G>T (n.*1808G>T) c.623G>T (p.Cys208Phe) c.2633G>T (p.Cys878Phe) c.2657G>T (p.Cys886Phe) c.2654G>T (p.Cys885Phe) c.1622G>T (p.Cys541Phe) c.1874G>T (p.Cys625Phe) n.2687G>T | |
| 15 | g.42729038C= | CA2172869172 | CDAN1 | c.2630G= (p.Cys877=) c.*1808G= (n.*1808G=) c.623G= (p.Cys208=) c.2633G= (p.Cys878=) c.2657G= (p.Cys886=) c.2654G= (p.Cys885=) c.1622G= (p.Cys541=) c.1874G= (p.Cys625=) n.2687G= | |
| 15 | g.42729038C>G | CA392036871 | CDAN1 | c.2630G>C (p.Cys877Ser) c.*1808G>C (n.*1808G>C) c.623G>C (p.Cys208Ser) c.2633G>C (p.Cys878Ser) c.2657G>C (p.Cys886Ser) c.2654G>C (p.Cys885Ser) c.1622G>C (p.Cys541Ser) c.1874G>C (p.Cys625Ser) n.2687G>C | dbSNP gnomAD v4 |
| 15 | g.42729038C>T | CA392036874 | CDAN1 | c.2630G>A (p.Cys877Tyr) c.*1808G>A (n.*1808G>A) c.623G>A (p.Cys208Tyr) c.2633G>A (p.Cys878Tyr) c.2657G>A (p.Cys886Tyr) c.2654G>A (p.Cys885Tyr) c.1622G>A (p.Cys541Tyr) c.1874G>A (p.Cys625Tyr) n.2687G>A | |
| 15 | g.42729039A= | CA2172869173 | CDAN1 | c.2629T= (p.Cys877=) c.*1807T= (n.*1807T=) c.622T= (p.Cys208=) c.2632T= (p.Cys878=) c.2656T= (p.Cys886=) c.2653T= (p.Cys885=) c.1621T= (p.Cys541=) c.1873T= (p.Cys625=) n.2686T= | |
| 15 | g.42729039A>C | CA392036877 | CDAN1 | c.2629T>G (p.Cys877Gly) c.*1807T>G (n.*1807T>G) c.622T>G (p.Cys208Gly) c.2632T>G (p.Cys878Gly) c.2656T>G (p.Cys886Gly) c.2653T>G (p.Cys885Gly) c.1621T>G (p.Cys541Gly) c.1873T>G (p.Cys625Gly) n.2686T>G | |
| 15 | g.42729039A>G | CA392036879 | CDAN1 | c.2629T>C (p.Cys877Arg) c.*1807T>C (n.*1807T>C) c.622T>C (p.Cys208Arg) c.2632T>C (p.Cys878Arg) c.2656T>C (p.Cys886Arg) c.2653T>C (p.Cys885Arg) c.1621T>C (p.Cys541Arg) c.1873T>C (p.Cys625Arg) n.2686T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729039A>T | CA392036880 | CDAN1 | c.2629T>A (p.Cys877Ser) c.*1807T>A (n.*1807T>A) c.622T>A (p.Cys208Ser) c.2632T>A (p.Cys878Ser) c.2656T>A (p.Cys886Ser) c.2653T>A (p.Cys885Ser) c.1621T>A (p.Cys541Ser) c.1873T>A (p.Cys625Ser) n.2686T>A | gnomAD v4 |
| 15 | g.42729040G>A | CA490001941 | CDAN1 | c.2628C>T (p.Asn876=) c.*1806C>T (n.*1806C>T) c.621C>T (p.Asn207=) c.2631C>T (p.Asn877=) c.2655C>T (p.Asn885=) c.2652C>T (p.Asn884=) c.1620C>T (p.Asn540=) c.1872C>T (p.Asn624=) n.2685C>T | |
| 15 | g.42729040G>C | CA392036882 | CDAN1 | c.2628C>G (p.Asn876Lys) c.*1806C>G (n.*1806C>G) c.621C>G (p.Asn207Lys) c.2631C>G (p.Asn877Lys) c.2655C>G (p.Asn885Lys) c.2652C>G (p.Asn884Lys) c.1620C>G (p.Asn540Lys) c.1872C>G (p.Asn624Lys) n.2685C>G | |
| 15 | g.42729040G>T | CA392036885 | CDAN1 | c.2628C>A (p.Asn876Lys) c.*1806C>A (n.*1806C>A) c.621C>A (p.Asn207Lys) c.2631C>A (p.Asn877Lys) c.2655C>A (p.Asn885Lys) c.2652C>A (p.Asn884Lys) c.1620C>A (p.Asn540Lys) c.1872C>A (p.Asn624Lys) n.2685C>A | |
| 15 | g.42729041T>A | CA392036886 | CDAN1 | c.2627A>T (p.Asn876Ile) c.*1805A>T (n.*1805A>T) c.620A>T (p.Asn207Ile) c.2630A>T (p.Asn877Ile) c.2654A>T (p.Asn885Ile) c.2651A>T (p.Asn884Ile) c.1619A>T (p.Asn540Ile) c.1871A>T (p.Asn624Ile) n.2684A>T | |
| 15 | g.42729041T>C | CA392036888 | CDAN1 | c.2627A>G (p.Asn876Ser) c.*1805A>G (n.*1805A>G) c.620A>G (p.Asn207Ser) c.2630A>G (p.Asn877Ser) c.2654A>G (p.Asn885Ser) c.2651A>G (p.Asn884Ser) c.1619A>G (p.Asn540Ser) c.1871A>G (p.Asn624Ser) n.2684A>G | |
| 15 | g.42729041T>G | CA392036889 | CDAN1 | c.2627A>C (p.Asn876Thr) c.*1805A>C (n.*1805A>C) c.620A>C (p.Asn207Thr) c.2630A>C (p.Asn877Thr) c.2654A>C (p.Asn885Thr) c.2651A>C (p.Asn884Thr) c.1619A>C (p.Asn540Thr) c.1871A>C (p.Asn624Thr) n.2684A>C | |
| 15 | g.42729043del | CA2628070826 | CDAN1 | c.2627del (p.Asn876ThrfsTer27) c.*1805del (n.*1805del) c.620del (p.Asn207ThrfsTer27) c.2630del (p.Asn877ThrfsTer27) c.2654del (p.Asn885ThrfsTer27) c.2651del (p.Asn884ThrfsTer27) c.1619del (p.Asn540ThrfsTer27) c.1871del (p.Asn624ThrfsTer27) n.2684del | gnomAD v4 |
| 15 | g.42729042T>A | CA392036896 | CDAN1 | c.2626A>T (p.Asn876Tyr) c.*1804A>T (n.*1804A>T) c.619A>T (p.Asn207Tyr) c.2629A>T (p.Asn877Tyr) c.2653A>T (p.Asn885Tyr) c.2650A>T (p.Asn884Tyr) c.1618A>T (p.Asn540Tyr) c.1870A>T (p.Asn624Tyr) n.2683A>T | |
| 15 | g.42729042T>C | CA392036894 | CDAN1 | c.2626A>G (p.Asn876Asp) c.*1804A>G (n.*1804A>G) c.619A>G (p.Asn207Asp) c.2629A>G (p.Asn877Asp) c.2653A>G (p.Asn885Asp) c.2650A>G (p.Asn884Asp) c.1618A>G (p.Asn540Asp) c.1870A>G (p.Asn624Asp) n.2683A>G | |
| 15 | g.42729042T>G | CA392036892 | CDAN1 | c.2626A>C (p.Asn876His) c.*1804A>C (n.*1804A>C) c.619A>C (p.Asn207His) c.2629A>C (p.Asn877His) c.2653A>C (p.Asn885His) c.2650A>C (p.Asn884His) c.1618A>C (p.Asn540His) c.1870A>C (p.Asn624His) n.2683A>C | |
| 15 | g.42729043T>A | CA490001943 | CDAN1 | c.2625A>T (p.Ser875=) c.*1803A>T (n.*1803A>T) c.618A>T (p.Ser206=) c.2628A>T (p.Ser876=) c.2652A>T (p.Ser884=) c.2649A>T (p.Ser883=) c.1617A>T (p.Ser539=) c.1869A>T (p.Ser623=) n.2682A>T | |
| 15 | g.42729043T>C | CA490001944 | CDAN1 | c.2625A>G (p.Ser875=) c.*1803A>G (n.*1803A>G) c.618A>G (p.Ser206=) c.2628A>G (p.Ser876=) c.2652A>G (p.Ser884=) c.2649A>G (p.Ser883=) c.1617A>G (p.Ser539=) c.1869A>G (p.Ser623=) n.2682A>G | dbSNP gnomAD v4 |
| 15 | g.42729043T>G | CA490001942 | CDAN1 | c.2625A>C (p.Ser875=) c.*1803A>C (n.*1803A>C) c.618A>C (p.Ser206=) c.2628A>C (p.Ser876=) c.2652A>C (p.Ser884=) c.2649A>C (p.Ser883=) c.1617A>C (p.Ser539=) c.1869A>C (p.Ser623=) n.2682A>C | |
| 15 | g.42729043T= | CA2172869174 | CDAN1 | c.2625A= (p.Ser875=) c.*1803A= (n.*1803A=) c.618A= (p.Ser206=) c.2628A= (p.Ser876=) c.2652A= (p.Ser884=) c.2649A= (p.Ser883=) c.1617A= (p.Ser539=) c.1869A= (p.Ser623=) n.2682A= | |
| 15 | g.42729044G>A | CA392036898 | CDAN1 | c.2624C>T (p.Ser875Leu) c.*1802C>T (n.*1802C>T) c.617C>T (p.Ser206Leu) c.2627C>T (p.Ser876Leu) c.2651C>T (p.Ser884Leu) c.2648C>T (p.Ser883Leu) c.1616C>T (p.Ser539Leu) c.1868C>T (p.Ser623Leu) n.2681C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42729044G>C | CA392036900 | CDAN1 | c.2624C>G (p.Ser875Ter) c.*1802C>G (n.*1802C>G) c.617C>G (p.Ser206Ter) c.2627C>G (p.Ser876Ter) c.2651C>G (p.Ser884Ter) c.2648C>G (p.Ser883Ter) c.1616C>G (p.Ser539Ter) c.1868C>G (p.Ser623Ter) n.2681C>G | |
| 15 | g.42729044G= | CA2172869175 | CDAN1 | c.2624C= (p.Ser875=) c.*1802C= (n.*1802C=) c.617C= (p.Ser206=) c.2627C= (p.Ser876=) c.2651C= (p.Ser884=) c.2648C= (p.Ser883=) c.1616C= (p.Ser539=) c.1868C= (p.Ser623=) n.2681C= | |
| 15 | g.42729044G>T | CA392036902 | CDAN1 | c.2624C>A (p.Ser875Ter) c.*1802C>A (n.*1802C>A) c.617C>A (p.Ser206Ter) c.2627C>A (p.Ser876Ter) c.2651C>A (p.Ser884Ter) c.2648C>A (p.Ser883Ter) c.1616C>A (p.Ser539Ter) c.1868C>A (p.Ser623Ter) n.2681C>A | |
| 15 | g.42729045A= | CA2172869176 | CDAN1 | c.2623T= (p.Ser875=) c.*1801T= (n.*1801T=) c.616T= (p.Ser206=) c.2626T= (p.Ser876=) c.2650T= (p.Ser884=) c.2647T= (p.Ser883=) c.1615T= (p.Ser539=) c.1867T= (p.Ser623=) n.2680T= | |
| 15 | g.42729045A>C | CA392036909 | CDAN1 | c.2623T>G (p.Ser875Ala) c.*1801T>G (n.*1801T>G) c.616T>G (p.Ser206Ala) c.2626T>G (p.Ser876Ala) c.2650T>G (p.Ser884Ala) c.2647T>G (p.Ser883Ala) c.1615T>G (p.Ser539Ala) c.1867T>G (p.Ser623Ala) n.2680T>G | |
| 15 | g.42729045A>G | CA392036911 | CDAN1 | c.2623T>C (p.Ser875Pro) c.*1801T>C (n.*1801T>C) c.616T>C (p.Ser206Pro) c.2626T>C (p.Ser876Pro) c.2650T>C (p.Ser884Pro) c.2647T>C (p.Ser883Pro) c.1615T>C (p.Ser539Pro) c.1867T>C (p.Ser623Pro) n.2680T>C | dbSNP |
| 15 | g.42729045A>T | CA392036913 | CDAN1 | c.2623T>A (p.Ser875Thr) c.*1801T>A (n.*1801T>A) c.616T>A (p.Ser206Thr) c.2626T>A (p.Ser876Thr) c.2650T>A (p.Ser884Thr) c.2647T>A (p.Ser883Thr) c.1615T>A (p.Ser539Thr) c.1867T>A (p.Ser623Thr) n.2680T>A | |
| 15 | g.42729045dup | CA2521481163 | CDAN1 | c.2623dup (p.Ser875PhefsTer?) c.*1801dup (n.*1801dup) c.616dup (p.Ser206PhefsTer?) c.2626dup (p.Ser876PhefsTer?) c.2650dup (p.Ser884PhefsTer?) c.2647dup (p.Ser883PhefsTer?) c.1615dup (p.Ser539PhefsTer?) c.1867dup (p.Ser623PhefsTer?) n.2680dup | |
| 15 | g.42729046T>A | CA490001947 | CDAN1 | c.2622A>T (p.Gly874=) c.*1800A>T (n.*1800A>T) c.615A>T (p.Gly205=) c.2625A>T (p.Gly875=) c.2649A>T (p.Gly883=) c.2646A>T (p.Gly882=) c.1614A>T (p.Gly538=) c.1866A>T (p.Gly622=) n.2679A>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729046T>C | CA490001945 | CDAN1 | c.2622A>G (p.Gly874=) c.*1800A>G (n.*1800A>G) c.615A>G (p.Gly205=) c.2625A>G (p.Gly875=) c.2649A>G (p.Gly883=) c.2646A>G (p.Gly882=) c.1614A>G (p.Gly538=) c.1866A>G (p.Gly622=) n.2679A>G | gnomAD v4 |
| 15 | g.42729046T>G | CA490001946 | CDAN1 | c.2622A>C (p.Gly874=) c.*1800A>C (n.*1800A>C) c.615A>C (p.Gly205=) c.2625A>C (p.Gly875=) c.2649A>C (p.Gly883=) c.2646A>C (p.Gly882=) c.1614A>C (p.Gly538=) c.1866A>C (p.Gly622=) n.2679A>C | |
| 15 | g.42729046T= | CA2172869177 | CDAN1 | c.2622A= (p.Gly874=) c.*1800A= (n.*1800A=) c.615A= (p.Gly205=) c.2625A= (p.Gly875=) c.2649A= (p.Gly883=) c.2646A= (p.Gly882=) c.1614A= (p.Gly538=) c.1866A= (p.Gly622=) n.2679A= | |
| 15 | g.42729047C>A | CA392036917 | CDAN1 | c.2621G>T (p.Gly874Val) c.*1799G>T (n.*1799G>T) c.614G>T (p.Gly205Val) c.2624G>T (p.Gly875Val) c.2648G>T (p.Gly883Val) c.2645G>T (p.Gly882Val) c.1613G>T (p.Gly538Val) c.1865G>T (p.Gly622Val) n.2678G>T | |
| 15 | g.42729047C>G | CA392036919 | CDAN1 | c.2621G>C (p.Gly874Ala) c.*1799G>C (n.*1799G>C) c.614G>C (p.Gly205Ala) c.2624G>C (p.Gly875Ala) c.2648G>C (p.Gly883Ala) c.2645G>C (p.Gly882Ala) c.1613G>C (p.Gly538Ala) c.1865G>C (p.Gly622Ala) n.2678G>C | |
| 15 | g.42729047C>T | CA392036920 | CDAN1 | c.2621G>A (p.Gly874Glu) c.*1799G>A (n.*1799G>A) c.614G>A (p.Gly205Glu) c.2624G>A (p.Gly875Glu) c.2648G>A (p.Gly883Glu) c.2645G>A (p.Gly882Glu) c.1613G>A (p.Gly538Glu) c.1865G>A (p.Gly622Glu) n.2678G>A | |
| 15 | g.42729048C>A | CA392036924 | CDAN1 | c.2620G>T (p.Gly874Ter) c.*1798G>T (n.*1798G>T) c.613G>T (p.Gly205Ter) c.2623G>T (p.Gly875Ter) c.2647G>T (p.Gly883Ter) c.2644G>T (p.Gly882Ter) c.1612G>T (p.Gly538Ter) c.1864G>T (p.Gly622Ter) n.2677G>T | |
| 15 | g.42729048C>G | CA392036925 | CDAN1 | c.2620G>C (p.Gly874Arg) c.*1798G>C (n.*1798G>C) c.613G>C (p.Gly205Arg) c.2623G>C (p.Gly875Arg) c.2647G>C (p.Gly883Arg) c.2644G>C (p.Gly882Arg) c.1612G>C (p.Gly538Arg) c.1864G>C (p.Gly622Arg) n.2677G>C | |
| 15 | g.42729048C>T | CA392036928 | CDAN1 | c.2620G>A (p.Gly874Arg) c.*1798G>A (n.*1798G>A) c.613G>A (p.Gly205Arg) c.2623G>A (p.Gly875Arg) c.2647G>A (p.Gly883Arg) c.2644G>A (p.Gly882Arg) c.1612G>A (p.Gly538Arg) c.1864G>A (p.Gly622Arg) n.2677G>A | gnomAD v4 |
| 15 | g.42729049A= | CA2172869178 | CDAN1 | c.2619T= (p.Ile873=) c.*1797T= (n.*1797T=) c.612T= (p.Ile204=) c.2622T= (p.Ile874=) c.2646T= (p.Ile882=) c.2643T= (p.Ile881=) c.1611T= (p.Ile537=) c.1863T= (p.Ile621=) n.2676T= | |
| 15 | g.42729049A>C | CA392036930 | CDAN1 | c.2619T>G (p.Ile873Met) c.*1797T>G (n.*1797T>G) c.612T>G (p.Ile204Met) c.2622T>G (p.Ile874Met) c.2646T>G (p.Ile882Met) c.2643T>G (p.Ile881Met) c.1611T>G (p.Ile537Met) c.1863T>G (p.Ile621Met) n.2676T>G | gnomAD v4 |
| 15 | g.42729049A>G | CA7515552 | CDAN1 | c.2619T>C (p.Ile873=) c.*1797T>C (n.*1797T>C) c.612T>C (p.Ile204=) c.2622T>C (p.Ile874=) c.2646T>C (p.Ile882=) c.2643T>C (p.Ile881=) c.1611T>C (p.Ile537=) c.1863T>C (p.Ile621=) n.2676T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729049A>T | CA490001948 | CDAN1 | c.2619T>A (p.Ile873=) c.*1797T>A (n.*1797T>A) c.612T>A (p.Ile204=) c.2622T>A (p.Ile874=) c.2646T>A (p.Ile882=) c.2643T>A (p.Ile881=) c.1611T>A (p.Ile537=) c.1863T>A (p.Ile621=) n.2676T>A | |
| 15 | g.42729050A>C | CA392036935 | CDAN1 | c.2618T>G (p.Ile873Ser) c.*1796T>G (n.*1796T>G) c.611T>G (p.Ile204Ser) c.2621T>G (p.Ile874Ser) c.2645T>G (p.Ile882Ser) c.2642T>G (p.Ile881Ser) c.1610T>G (p.Ile537Ser) c.1862T>G (p.Ile621Ser) n.2675T>G | |
| 15 | g.42729050A>G | CA392036938 | CDAN1 | c.2618T>C (p.Ile873Thr) c.*1796T>C (n.*1796T>C) c.611T>C (p.Ile204Thr) c.2621T>C (p.Ile874Thr) c.2645T>C (p.Ile882Thr) c.2642T>C (p.Ile881Thr) c.1610T>C (p.Ile537Thr) c.1862T>C (p.Ile621Thr) n.2675T>C | gnomAD v4 |
| 15 | g.42729050A>T | CA392036934 | CDAN1 | c.2618T>A (p.Ile873Asn) c.*1796T>A (n.*1796T>A) c.611T>A (p.Ile204Asn) c.2621T>A (p.Ile874Asn) c.2645T>A (p.Ile882Asn) c.2642T>A (p.Ile881Asn) c.1610T>A (p.Ile537Asn) c.1862T>A (p.Ile621Asn) n.2675T>A | |
| 15 | g.42729051T>A | CA392036940 | CDAN1 | c.2617A>T (p.Ile873Phe) c.*1795A>T (n.*1795A>T) c.610A>T (p.Ile204Phe) c.2620A>T (p.Ile874Phe) c.2644A>T (p.Ile882Phe) c.2641A>T (p.Ile881Phe) c.1609A>T (p.Ile537Phe) c.1861A>T (p.Ile621Phe) n.2674A>T | |
| 15 | g.42729051T>C | CA392036942 | CDAN1 | c.2617A>G (p.Ile873Val) c.*1795A>G (n.*1795A>G) c.610A>G (p.Ile204Val) c.2620A>G (p.Ile874Val) c.2644A>G (p.Ile882Val) c.2641A>G (p.Ile881Val) c.1609A>G (p.Ile537Val) c.1861A>G (p.Ile621Val) n.2674A>G | |
| 15 | g.42729051T>G | CA392036944 | CDAN1 | c.2617A>C (p.Ile873Leu) c.*1795A>C (n.*1795A>C) c.610A>C (p.Ile204Leu) c.2620A>C (p.Ile874Leu) c.2644A>C (p.Ile882Leu) c.2641A>C (p.Ile881Leu) c.1609A>C (p.Ile537Leu) c.1861A>C (p.Ile621Leu) n.2674A>C | |
| 15 | g.42729052T>A | CA392036946 | CDAN1 | c.2616A>T (p.Arg872Ser) c.*1794A>T (n.*1794A>T) c.609A>T (p.Arg203Ser) c.2619A>T (p.Arg873Ser) c.2643A>T (p.Arg881Ser) c.2640A>T (p.Arg880Ser) c.1608A>T (p.Arg536Ser) c.1860A>T (p.Arg620Ser) n.2673A>T | |
| 15 | g.42729052T>C | CA490001949 | CDAN1 | c.2616A>G (p.Arg872=) c.*1794A>G (n.*1794A>G) c.609A>G (p.Arg203=) c.2619A>G (p.Arg873=) c.2643A>G (p.Arg881=) c.2640A>G (p.Arg880=) c.1608A>G (p.Arg536=) c.1860A>G (p.Arg620=) n.2673A>G | |
| 15 | g.42729052T>G | CA392036947 | CDAN1 | c.2616A>C (p.Arg872Ser) c.*1794A>C (n.*1794A>C) c.609A>C (p.Arg203Ser) c.2619A>C (p.Arg873Ser) c.2643A>C (p.Arg881Ser) c.2640A>C (p.Arg880Ser) c.1608A>C (p.Arg536Ser) c.1860A>C (p.Arg620Ser) n.2673A>C | |
| 15 | g.42729053C>A | CA392036948 | CDAN1 | c.2615G>T (p.Arg872Ile) c.*1793G>T (n.*1793G>T) c.608G>T (p.Arg203Ile) c.2618G>T (p.Arg873Ile) c.2642G>T (p.Arg881Ile) c.2639G>T (p.Arg880Ile) c.1607G>T (p.Arg536Ile) c.1859G>T (p.Arg620Ile) n.2672G>T | gnomAD v4 COSMIC |
| 15 | g.42729053C>G | CA392036949 | CDAN1 | c.2615G>C (p.Arg872Thr) c.*1793G>C (n.*1793G>C) c.608G>C (p.Arg203Thr) c.2618G>C (p.Arg873Thr) c.2642G>C (p.Arg881Thr) c.2639G>C (p.Arg880Thr) c.1607G>C (p.Arg536Thr) c.1859G>C (p.Arg620Thr) n.2672G>C | |
| 15 | g.42729053C>T | CA392036951 | CDAN1 | c.2615G>A (p.Arg872Lys) c.*1793G>A (n.*1793G>A) c.608G>A (p.Arg203Lys) c.2618G>A (p.Arg873Lys) c.2642G>A (p.Arg881Lys) c.2639G>A (p.Arg880Lys) c.1607G>A (p.Arg536Lys) c.1859G>A (p.Arg620Lys) n.2672G>A | |
| 15 | g.42729054T>A | CA392036954 | CDAN1 | c.2614A>T (p.Arg872Ter) c.*1792A>T (n.*1792A>T) c.607A>T (p.Arg203Ter) c.2617A>T (p.Arg873Ter) c.2641A>T (p.Arg881Ter) c.2638A>T (p.Arg880Ter) c.1606A>T (p.Arg536Ter) c.1858A>T (p.Arg620Ter) n.2671A>T | |
| 15 | g.42729054T>C | CA392036956 | CDAN1 | c.2614A>G (p.Arg872Gly) c.*1792A>G (n.*1792A>G) c.607A>G (p.Arg203Gly) c.2617A>G (p.Arg873Gly) c.2641A>G (p.Arg881Gly) c.2638A>G (p.Arg880Gly) c.1606A>G (p.Arg536Gly) c.1858A>G (p.Arg620Gly) n.2671A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729054T>G | CA490001950 | CDAN1 | c.2614A>C (p.Arg872=) c.*1792A>C (n.*1792A>C) c.607A>C (p.Arg203=) c.2617A>C (p.Arg873=) c.2641A>C (p.Arg881=) c.2638A>C (p.Arg880=) c.1606A>C (p.Arg536=) c.1858A>C (p.Arg620=) n.2671A>C | |
| 15 | g.42729054T= | CA2172869179 | CDAN1 | c.2614A= (p.Arg872=) c.*1792A= (n.*1792A=) c.607A= (p.Arg203=) c.2617A= (p.Arg873=) c.2641A= (p.Arg881=) c.2638A= (p.Arg880=) c.1606A= (p.Arg536=) c.1858A= (p.Arg620=) n.2671A= | |
| 15 | g.42729055T>A | CA392036958 | CDAN1 | c.2613A>T (p.Glu871Asp) c.*1791A>T (n.*1791A>T) c.606A>T (p.Glu202Asp) c.2616A>T (p.Glu872Asp) c.2640A>T (p.Glu880Asp) c.2637A>T (p.Glu879Asp) c.1605A>T (p.Glu535Asp) c.1857A>T (p.Glu619Asp) n.2670A>T | |
| 15 | g.42729055T>C | CA490001951 | CDAN1 | c.2613A>G (p.Glu871=) c.*1791A>G (n.*1791A>G) c.606A>G (p.Glu202=) c.2616A>G (p.Glu872=) c.2640A>G (p.Glu880=) c.2637A>G (p.Glu879=) c.1605A>G (p.Glu535=) c.1857A>G (p.Glu619=) n.2670A>G | |
| 15 | g.42729055T>G | CA392036960 | CDAN1 | c.2613A>C (p.Glu871Asp) c.*1791A>C (n.*1791A>C) c.606A>C (p.Glu202Asp) c.2616A>C (p.Glu872Asp) c.2640A>C (p.Glu880Asp) c.2637A>C (p.Glu879Asp) c.1605A>C (p.Glu535Asp) c.1857A>C (p.Glu619Asp) n.2670A>C | |
| 15 | g.42729056T>A | CA392036963 | CDAN1 | c.2612A>T (p.Glu871Val) c.*1790A>T (n.*1790A>T) c.605A>T (p.Glu202Val) c.2615A>T (p.Glu872Val) c.2639A>T (p.Glu880Val) c.2636A>T (p.Glu879Val) c.1604A>T (p.Glu535Val) c.1856A>T (p.Glu619Val) n.2669A>T | |
| 15 | g.42729056T>C | CA392036965 | CDAN1 | c.2612A>G (p.Glu871Gly) c.*1790A>G (n.*1790A>G) c.605A>G (p.Glu202Gly) c.2615A>G (p.Glu872Gly) c.2639A>G (p.Glu880Gly) c.2636A>G (p.Glu879Gly) c.1604A>G (p.Glu535Gly) c.1856A>G (p.Glu619Gly) n.2669A>G | dbSNP gnomAD v4 |
| 15 | g.42729056T>G | CA392036967 | CDAN1 | c.2612A>C (p.Glu871Ala) c.*1790A>C (n.*1790A>C) c.605A>C (p.Glu202Ala) c.2615A>C (p.Glu872Ala) c.2639A>C (p.Glu880Ala) c.2636A>C (p.Glu879Ala) c.1604A>C (p.Glu535Ala) c.1856A>C (p.Glu619Ala) n.2669A>C | |
| 15 | g.42729056T= | CA2172869180 | CDAN1 | c.2612A= (p.Glu871=) c.*1790A= (n.*1790A=) c.605A= (p.Glu202=) c.2615A= (p.Glu872=) c.2639A= (p.Glu880=) c.2636A= (p.Glu879=) c.1604A= (p.Glu535=) c.1856A= (p.Glu619=) n.2669A= | |
| 15 | g.42729057C>A | CA392036970 | CDAN1 | c.2611G>T (p.Glu871Ter) c.*1789G>T (n.*1789G>T) c.604G>T (p.Glu202Ter) c.2614G>T (p.Glu872Ter) c.2638G>T (p.Glu880Ter) c.2635G>T (p.Glu879Ter) c.1603G>T (p.Glu535Ter) c.1855G>T (p.Glu619Ter) n.2668G>T | gnomAD v4 |
| 15 | g.42729057C>G | CA392036977 | CDAN1 | c.2611G>C (p.Glu871Gln) c.*1789G>C (n.*1789G>C) c.604G>C (p.Glu202Gln) c.2614G>C (p.Glu872Gln) c.2638G>C (p.Glu880Gln) c.2635G>C (p.Glu879Gln) c.1603G>C (p.Glu535Gln) c.1855G>C (p.Glu619Gln) n.2668G>C | |
| 15 | g.42729057C>T | CA392036972 | CDAN1 | c.2611G>A (p.Glu871Lys) c.*1789G>A (n.*1789G>A) c.604G>A (p.Glu202Lys) c.2614G>A (p.Glu872Lys) c.2638G>A (p.Glu880Lys) c.2635G>A (p.Glu879Lys) c.1603G>A (p.Glu535Lys) c.1855G>A (p.Glu619Lys) n.2668G>A | |
| 15 | g.42729058T>A | CA490001952 | CDAN1 | c.2610A>T (p.Ala870=) c.*1788A>T (n.*1788A>T) c.603A>T (p.Ala201=) c.2613A>T (p.Ala871=) c.2637A>T (p.Ala879=) c.2634A>T (p.Ala878=) c.1602A>T (p.Ala534=) c.1854A>T (p.Ala618=) n.2667A>T | |
| 15 | g.42729058T>C | CA490001953 | CDAN1 | c.2610A>G (p.Ala870=) c.*1788A>G (n.*1788A>G) c.603A>G (p.Ala201=) c.2613A>G (p.Ala871=) c.2637A>G (p.Ala879=) c.2634A>G (p.Ala878=) c.1602A>G (p.Ala534=) c.1854A>G (p.Ala618=) n.2667A>G | gnomAD v4 |
| 15 | g.42729058T>G | CA490001954 | CDAN1 | c.2610A>C (p.Ala870=) c.*1788A>C (n.*1788A>C) c.603A>C (p.Ala201=) c.2613A>C (p.Ala871=) c.2637A>C (p.Ala879=) c.2634A>C (p.Ala878=) c.1602A>C (p.Ala534=) c.1854A>C (p.Ala618=) n.2667A>C | |
| 15 | g.42729059G>A | CA392036979 | CDAN1 | c.2609C>T (p.Ala870Val) c.*1787C>T (n.*1787C>T) c.602C>T (p.Ala201Val) c.2612C>T (p.Ala871Val) c.2636C>T (p.Ala879Val) c.2633C>T (p.Ala878Val) c.1601C>T (p.Ala534Val) c.1853C>T (p.Ala618Val) n.2666C>T | gnomAD v4 |
| 15 | g.42729059G>C | CA392036980 | CDAN1 | c.2609C>G (p.Ala870Gly) c.*1787C>G (n.*1787C>G) c.602C>G (p.Ala201Gly) c.2612C>G (p.Ala871Gly) c.2636C>G (p.Ala879Gly) c.2633C>G (p.Ala878Gly) c.1601C>G (p.Ala534Gly) c.1853C>G (p.Ala618Gly) n.2666C>G | |
| 15 | g.42729059G>T | CA392036981 | CDAN1 | c.2609C>A (p.Ala870Glu) c.*1787C>A (n.*1787C>A) c.602C>A (p.Ala201Glu) c.2612C>A (p.Ala871Glu) c.2636C>A (p.Ala879Glu) c.2633C>A (p.Ala878Glu) c.1601C>A (p.Ala534Glu) c.1853C>A (p.Ala618Glu) n.2666C>A | |
| 15 | g.42729060C>A | CA392036982 | CDAN1 | c.2608G>T (p.Ala870Ser) c.*1786G>T (n.*1786G>T) c.601G>T (p.Ala201Ser) c.2611G>T (p.Ala871Ser) c.2635G>T (p.Ala879Ser) c.2632G>T (p.Ala878Ser) c.1600G>T (p.Ala534Ser) c.1852G>T (p.Ala618Ser) n.2665G>T | |
| 15 | g.42729060C>G | CA392036983 | CDAN1 | c.2608G>C (p.Ala870Pro) c.*1786G>C (n.*1786G>C) c.601G>C (p.Ala201Pro) c.2611G>C (p.Ala871Pro) c.2635G>C (p.Ala879Pro) c.2632G>C (p.Ala878Pro) c.1600G>C (p.Ala534Pro) c.1852G>C (p.Ala618Pro) n.2665G>C | |
| 15 | g.42729060C>T | CA392036984 | CDAN1 | c.2608G>A (p.Ala870Thr) c.*1786G>A (n.*1786G>A) c.601G>A (p.Ala201Thr) c.2611G>A (p.Ala871Thr) c.2635G>A (p.Ala879Thr) c.2632G>A (p.Ala878Thr) c.1600G>A (p.Ala534Thr) c.1852G>A (p.Ala618Thr) n.2665G>A | |
| 15 | g.42729061C>A | CA490001955 | CDAN1 | c.2607G>T (p.Val869=) c.*1785G>T (n.*1785G>T) c.600G>T (p.Val200=) c.2610G>T (p.Val870=) c.2634G>T (p.Val878=) c.2631G>T (p.Val877=) c.1599G>T (p.Val533=) c.1851G>T (p.Val617=) n.2664G>T | |
| 15 | g.42729061C>G | CA490001956 | CDAN1 | c.2607G>C (p.Val869=) c.*1785G>C (n.*1785G>C) c.600G>C (p.Val200=) c.2610G>C (p.Val870=) c.2634G>C (p.Val878=) c.2631G>C (p.Val877=) c.1599G>C (p.Val533=) c.1851G>C (p.Val617=) n.2664G>C | |
| 15 | g.42729061C>T | CA490001957 | CDAN1 | c.2607G>A (p.Val869=) c.*1785G>A (n.*1785G>A) c.600G>A (p.Val200=) c.2610G>A (p.Val870=) c.2634G>A (p.Val878=) c.2631G>A (p.Val877=) c.1599G>A (p.Val533=) c.1851G>A (p.Val617=) n.2664G>A | gnomAD v4 |
| 15 | g.42729062A>C | CA392036987 | CDAN1 | c.2606T>G (p.Val869Gly) c.*1784T>G (n.*1784T>G) c.599T>G (p.Val200Gly) c.2609T>G (p.Val870Gly) c.2633T>G (p.Val878Gly) c.2630T>G (p.Val877Gly) c.1598T>G (p.Val533Gly) c.1850T>G (p.Val617Gly) n.2663T>G | |
| 15 | g.42729062A>G | CA392036990 | CDAN1 | c.2606T>C (p.Val869Ala) c.*1784T>C (n.*1784T>C) c.599T>C (p.Val200Ala) c.2609T>C (p.Val870Ala) c.2633T>C (p.Val878Ala) c.2630T>C (p.Val877Ala) c.1598T>C (p.Val533Ala) c.1850T>C (p.Val617Ala) n.2663T>C | gnomAD v4 |
| 15 | g.42729062A>T | CA392036992 | CDAN1 | c.2606T>A (p.Val869Glu) c.*1784T>A (n.*1784T>A) c.599T>A (p.Val200Glu) c.2609T>A (p.Val870Glu) c.2633T>A (p.Val878Glu) c.2630T>A (p.Val877Glu) c.1598T>A (p.Val533Glu) c.1850T>A (p.Val617Glu) n.2663T>A | |
| 15 | g.42729065_42729073del | CA490001958 | CDAN1 | c.2598_2606del (p.Glu867_Val869del) c.*1776_*1784del (n.*1776_*1784del) c.591_599del (p.Glu198_Val200del) c.2601_2609del (p.Glu868_Val870del) c.2625_2633del (p.Glu876_Val878del) c.2622_2630del (p.Glu875_Val877del) c.1590_1598del (p.Glu531_Val533del) c.1842_1850del (p.Glu615_Val617del) n.2655_2663del | |
| 15 | g.42729063C>A | CA392036994 | CDAN1 | c.2605G>T (p.Val869Leu) c.*1783G>T (n.*1783G>T) c.598G>T (p.Val200Leu) c.2608G>T (p.Val870Leu) c.2632G>T (p.Val878Leu) c.2629G>T (p.Val877Leu) c.1597G>T (p.Val533Leu) c.1849G>T (p.Val617Leu) n.2662G>T | |
| 15 | g.42729063C= | CA2172869181 | CDAN1 | c.2605G= (p.Val869=) c.*1783G= (n.*1783G=) c.598G= (p.Val200=) c.2608G= (p.Val870=) c.2632G= (p.Val878=) c.2629G= (p.Val877=) c.1597G= (p.Val533=) c.1849G= (p.Val617=) n.2662G= | |
| 15 | g.42729063C>G | CA269902949 | CDAN1 | c.2605G>C (p.Val869Leu) c.*1783G>C (n.*1783G>C) c.598G>C (p.Val200Leu) c.2608G>C (p.Val870Leu) c.2632G>C (p.Val878Leu) c.2629G>C (p.Val877Leu) c.1597G>C (p.Val533Leu) c.1849G>C (p.Val617Leu) n.2662G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729063C>T | CA7515553 | CDAN1 | c.2605G>A (p.Val869Met) c.*1783G>A (n.*1783G>A) c.598G>A (p.Val200Met) c.2608G>A (p.Val870Met) c.2632G>A (p.Val878Met) c.2629G>A (p.Val877Met) c.1597G>A (p.Val533Met) c.1849G>A (p.Val617Met) n.2662G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729064G>A | CA7515554 | CDAN1 | c.2604C>T (p.Phe868=) c.*1782C>T (n.*1782C>T) c.597C>T (p.Phe199=) c.2607C>T (p.Phe869=) c.2631C>T (p.Phe877=) c.2628C>T (p.Phe876=) c.1596C>T (p.Phe532=) c.1848C>T (p.Phe616=) n.2661C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42729064G>C | CA392037008 | CDAN1 | c.2604C>G (p.Phe868Leu) c.*1782C>G (n.*1782C>G) c.597C>G (p.Phe199Leu) c.2607C>G (p.Phe869Leu) c.2631C>G (p.Phe877Leu) c.2628C>G (p.Phe876Leu) c.1596C>G (p.Phe532Leu) c.1848C>G (p.Phe616Leu) n.2661C>G | |
| 15 | g.42729064G= | CA2172869182 | CDAN1 | c.2604C= (p.Phe868=) c.*1782C= (n.*1782C=) c.597C= (p.Phe199=) c.2607C= (p.Phe869=) c.2631C= (p.Phe877=) c.2628C= (p.Phe876=) c.1596C= (p.Phe532=) c.1848C= (p.Phe616=) n.2661C= | |
| 15 | g.42729064G>T | CA392037004 | CDAN1 | c.2604C>A (p.Phe868Leu) c.*1782C>A (n.*1782C>A) c.597C>A (p.Phe199Leu) c.2607C>A (p.Phe869Leu) c.2631C>A (p.Phe877Leu) c.2628C>A (p.Phe876Leu) c.1596C>A (p.Phe532Leu) c.1848C>A (p.Phe616Leu) n.2661C>A | |
| 15 | g.42729065A>C | CA392037011 | CDAN1 | c.2603T>G (p.Phe868Cys) c.*1781T>G (n.*1781T>G) c.596T>G (p.Phe199Cys) c.2606T>G (p.Phe869Cys) c.2630T>G (p.Phe877Cys) c.2627T>G (p.Phe876Cys) c.1595T>G (p.Phe532Cys) c.1847T>G (p.Phe616Cys) n.2660T>G | |
| 15 | g.42729065A>G | CA392037013 | CDAN1 | c.2603T>C (p.Phe868Ser) c.*1781T>C (n.*1781T>C) c.596T>C (p.Phe199Ser) c.2606T>C (p.Phe869Ser) c.2630T>C (p.Phe877Ser) c.2627T>C (p.Phe876Ser) c.1595T>C (p.Phe532Ser) c.1847T>C (p.Phe616Ser) n.2660T>C | |
| 15 | g.42729065A>T | CA392037016 | CDAN1 | c.2603T>A (p.Phe868Tyr) c.*1781T>A (n.*1781T>A) c.596T>A (p.Phe199Tyr) c.2606T>A (p.Phe869Tyr) c.2630T>A (p.Phe877Tyr) c.2627T>A (p.Phe876Tyr) c.1595T>A (p.Phe532Tyr) c.1847T>A (p.Phe616Tyr) n.2660T>A | |
| 15 | g.42729066A= | CA2172869183 | CDAN1 | c.2602T= (p.Phe868=) c.*1780T= (n.*1780T=) c.595T= (p.Phe199=) c.2605T= (p.Phe869=) c.2629T= (p.Phe877=) c.2626T= (p.Phe876=) c.1594T= (p.Phe532=) c.1846T= (p.Phe616=) n.2659T= | |
| 15 | g.42729066A>C | CA392037020 | CDAN1 | c.2602T>G (p.Phe868Val) c.*1780T>G (n.*1780T>G) c.595T>G (p.Phe199Val) c.2605T>G (p.Phe869Val) c.2629T>G (p.Phe877Val) c.2626T>G (p.Phe876Val) c.1594T>G (p.Phe532Val) c.1846T>G (p.Phe616Val) n.2659T>G | |
| 15 | g.42729066A>G | CA392037021 | CDAN1 | c.2602T>C (p.Phe868Leu) c.*1780T>C (n.*1780T>C) c.595T>C (p.Phe199Leu) c.2605T>C (p.Phe869Leu) c.2629T>C (p.Phe877Leu) c.2626T>C (p.Phe876Leu) c.1594T>C (p.Phe532Leu) c.1846T>C (p.Phe616Leu) n.2659T>C | |
| 15 | g.42729066A>T | CA252609 | CDAN1 | c.2602T>A (p.Phe868Ile) c.*1780T>A (n.*1780T>A) c.595T>A (p.Phe199Ile) c.2605T>A (p.Phe869Ile) c.2629T>A (p.Phe877Ile) c.2626T>A (p.Phe876Ile) c.1594T>A (p.Phe532Ile) c.1846T>A (p.Phe616Ile) n.2659T>A | ClinVar dbSNP |
| 15 | g.42729067C>A | CA392037027 | CDAN1 | c.2601G>T (p.Glu867Asp) c.*1779G>T (n.*1779G>T) c.594G>T (p.Glu198Asp) c.2604G>T (p.Glu868Asp) c.2628G>T (p.Glu876Asp) c.2625G>T (p.Glu875Asp) c.1593G>T (p.Glu531Asp) c.1845G>T (p.Glu615Asp) n.2658G>T | |
| 15 | g.42729067C= | CA2172869184 | CDAN1 | c.2601G= (p.Glu867=) c.*1779G= (n.*1779G=) c.594G= (p.Glu198=) c.2604G= (p.Glu868=) c.2628G= (p.Glu876=) c.2625G= (p.Glu875=) c.1593G= (p.Glu531=) c.1845G= (p.Glu615=) n.2658G= | |
| 15 | g.42729067C>G | CA392037029 | CDAN1 | c.2601G>C (p.Glu867Asp) c.*1779G>C (n.*1779G>C) c.594G>C (p.Glu198Asp) c.2604G>C (p.Glu868Asp) c.2628G>C (p.Glu876Asp) c.2625G>C (p.Glu875Asp) c.1593G>C (p.Glu531Asp) c.1845G>C (p.Glu615Asp) n.2658G>C | |
| 15 | g.42729067C>T | CA490001959 | CDAN1 | c.2601G>A (p.Glu867=) c.*1779G>A (n.*1779G>A) c.594G>A (p.Glu198=) c.2604G>A (p.Glu868=) c.2628G>A (p.Glu876=) c.2625G>A (p.Glu875=) c.1593G>A (p.Glu531=) c.1845G>A (p.Glu615=) n.2658G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.42729068T>A | CA392037031 | CDAN1 | c.2600A>T (p.Glu867Val) c.*1778A>T (n.*1778A>T) c.593A>T (p.Glu198Val) c.2603A>T (p.Glu868Val) c.2627A>T (p.Glu876Val) c.2624A>T (p.Glu875Val) c.1592A>T (p.Glu531Val) c.1844A>T (p.Glu615Val) n.2657A>T | |
| 15 | g.42729068T>C | CA7515555 | CDAN1 | c.2600A>G (p.Glu867Gly) c.*1778A>G (n.*1778A>G) c.593A>G (p.Glu198Gly) c.2603A>G (p.Glu868Gly) c.2627A>G (p.Glu876Gly) c.2624A>G (p.Glu875Gly) c.1592A>G (p.Glu531Gly) c.1844A>G (p.Glu615Gly) n.2657A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729068T>G | CA392037039 | CDAN1 | c.2600A>C (p.Glu867Ala) c.*1778A>C (n.*1778A>C) c.593A>C (p.Glu198Ala) c.2603A>C (p.Glu868Ala) c.2627A>C (p.Glu876Ala) c.2624A>C (p.Glu875Ala) c.1592A>C (p.Glu531Ala) c.1844A>C (p.Glu615Ala) n.2657A>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729068T= | CA2172869185 | CDAN1 | c.2600A= (p.Glu867=) c.*1778A= (n.*1778A=) c.593A= (p.Glu198=) c.2603A= (p.Glu868=) c.2627A= (p.Glu876=) c.2624A= (p.Glu875=) c.1592A= (p.Glu531=) c.1844A= (p.Glu615=) n.2657A= | |
| 15 | g.42729069C>A | CA392037045 | CDAN1 | c.2599G>T (p.Glu867Ter) c.*1777G>T (n.*1777G>T) c.592G>T (p.Glu198Ter) c.2602G>T (p.Glu868Ter) c.2626G>T (p.Glu876Ter) c.2623G>T (p.Glu875Ter) c.1591G>T (p.Glu531Ter) c.1843G>T (p.Glu615Ter) n.2656G>T | |
| 15 | g.42729069C>G | CA392037046 | CDAN1 | c.2599G>C (p.Glu867Gln) c.*1777G>C (n.*1777G>C) c.592G>C (p.Glu198Gln) c.2602G>C (p.Glu868Gln) c.2626G>C (p.Glu876Gln) c.2623G>C (p.Glu875Gln) c.1591G>C (p.Glu531Gln) c.1843G>C (p.Glu615Gln) n.2656G>C | |
| 15 | g.42729069C>T | CA392037048 | CDAN1 | c.2599G>A (p.Glu867Lys) c.*1777G>A (n.*1777G>A) c.592G>A (p.Glu198Lys) c.2602G>A (p.Glu868Lys) c.2626G>A (p.Glu876Lys) c.2623G>A (p.Glu875Lys) c.1591G>A (p.Glu531Lys) c.1843G>A (p.Glu615Lys) n.2656G>A | gnomAD v4 |
| 15 | g.42729069_42729071delinsCTA | CA2172869186 | CDAN1 | c.2597_2599delinsTAG (p.Val866=) c.*1775_*1777delinsTAG (n.*1775_*1777delinsTAG) c.590_592delinsTAG (p.Val197=) c.2600_2602delinsTAG (p.Val867=) c.2624_2626delinsTAG (p.Val875=) c.2621_2623delinsTAG (p.Val874=) c.1589_1591delinsTAG (p.Val530=) c.1841_1843delinsTAG (p.Val614=) n.2654_2656delinsTAG | |
| 15 | g.42729070T>A | CA490001961 | CDAN1 | c.2598A>T (p.Val866=) c.*1776A>T (n.*1776A>T) c.591A>T (p.Val197=) c.2601A>T (p.Val867=) c.2625A>T (p.Val875=) c.2622A>T (p.Val874=) c.1590A>T (p.Val530=) c.1842A>T (p.Val614=) n.2655A>T | |
| 15 | g.42729070T>C | CA269902975 | CDAN1 | c.2598A>G (p.Val866=) c.*1776A>G (n.*1776A>G) c.591A>G (p.Val197=) c.2601A>G (p.Val867=) c.2625A>G (p.Val875=) c.2622A>G (p.Val874=) c.1590A>G (p.Val530=) c.1842A>G (p.Val614=) n.2655A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.42729070T>G | CA490001960 | CDAN1 | c.2598A>C (p.Val866=) c.*1776A>C (n.*1776A>C) c.591A>C (p.Val197=) c.2601A>C (p.Val867=) c.2625A>C (p.Val875=) c.2622A>C (p.Val874=) c.1590A>C (p.Val530=) c.1842A>C (p.Val614=) n.2655A>C | gnomAD v4 |
| 15 | g.42729070T= | CA2172869187 | CDAN1 | c.2598A= (p.Val866=) c.*1776A= (n.*1776A=) c.591A= (p.Val197=) c.2601A= (p.Val867=) c.2625A= (p.Val875=) c.2622A= (p.Val874=) c.1590A= (p.Val530=) c.1842A= (p.Val614=) n.2655A= | |
| 15 | g.42729070_42729071del | CA7515556 | CDAN1 | c.2597_2598del (p.Val866GlyfsTer?) c.*1775_*1776del (n.*1775_*1776del) c.590_591del (p.Val197GlyfsTer?) c.2600_2601del (p.Val867GlyfsTer?) c.2624_2625del (p.Val875GlyfsTer?) c.2621_2622del (p.Val874GlyfsTer?) c.1589_1590del (p.Val530GlyfsTer?) c.1841_1842del (p.Val614GlyfsTer?) n.2654_2655del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729071A= | CA2172869188 | CDAN1 | c.2597T= (p.Val866=) c.*1775T= (n.*1775T=) c.590T= (p.Val197=) c.2600T= (p.Val867=) c.2624T= (p.Val875=) c.2621T= (p.Val874=) c.1589T= (p.Val530=) c.1841T= (p.Val614=) n.2654T= | |
| 15 | g.42729071A>C | CA392037053 | CDAN1 | c.2597T>G (p.Val866Gly) c.*1775T>G (n.*1775T>G) c.590T>G (p.Val197Gly) c.2600T>G (p.Val867Gly) c.2624T>G (p.Val875Gly) c.2621T>G (p.Val874Gly) c.1589T>G (p.Val530Gly) c.1841T>G (p.Val614Gly) n.2654T>G | |
| 15 | g.42729071A>G | CA392037056 | CDAN1 | c.2597T>C (p.Val866Ala) c.*1775T>C (n.*1775T>C) c.590T>C (p.Val197Ala) c.2600T>C (p.Val867Ala) c.2624T>C (p.Val875Ala) c.2621T>C (p.Val874Ala) c.1589T>C (p.Val530Ala) c.1841T>C (p.Val614Ala) n.2654T>C | gnomAD v4 |
| 15 | g.42729071A>T | CA392037058 | CDAN1 | c.2597T>A (p.Val866Glu) c.*1775T>A (n.*1775T>A) c.590T>A (p.Val197Glu) c.2600T>A (p.Val867Glu) c.2624T>A (p.Val875Glu) c.2621T>A (p.Val874Glu) c.1589T>A (p.Val530Glu) c.1841T>A (p.Val614Glu) n.2654T>A | |
| 15 | g.42729072C>A | CA392037060 | CDAN1 | c.2596G>T (p.Val866Leu) c.*1774G>T (n.*1774G>T) c.589G>T (p.Val197Leu) c.2599G>T (p.Val867Leu) c.2623G>T (p.Val875Leu) c.2620G>T (p.Val874Leu) c.1588G>T (p.Val530Leu) c.1840G>T (p.Val614Leu) n.2653G>T | gnomAD v4 |
| 15 | g.42729072C= | CA2172869189 | CDAN1 | c.2596G= (p.Val866=) c.*1774G= (n.*1774G=) c.589G= (p.Val197=) c.2599G= (p.Val867=) c.2623G= (p.Val875=) c.2620G= (p.Val874=) c.1588G= (p.Val530=) c.1840G= (p.Val614=) n.2653G= | |
| 15 | g.42729072C>G | CA392037072 | CDAN1 | c.2596G>C (p.Val866Leu) c.*1774G>C (n.*1774G>C) c.589G>C (p.Val197Leu) c.2599G>C (p.Val867Leu) c.2623G>C (p.Val875Leu) c.2620G>C (p.Val874Leu) c.1588G>C (p.Val530Leu) c.1840G>C (p.Val614Leu) n.2653G>C | dbSNP gnomAD v4 |
| 15 | g.42729072C>T | CA7515557 | CDAN1 | c.2596G>A (p.Val866Ile) c.*1774G>A (n.*1774G>A) c.589G>A (p.Val197Ile) c.2599G>A (p.Val867Ile) c.2623G>A (p.Val875Ile) c.2620G>A (p.Val874Ile) c.1588G>A (p.Val530Ile) c.1840G>A (p.Val614Ile) n.2653G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42729075_42729079dup | CA618002288 | CDAN1 | c.2592_2596dup (p.Val866GlyfsTer3) c.*1770_*1774dup (n.*1770_*1774dup) c.585_589dup (p.Val197GlyfsTer3) c.2595_2599dup (p.Val867GlyfsTer3) c.2619_2623dup (p.Val875GlyfsTer3) c.2616_2620dup (p.Val874GlyfsTer3) c.1584_1588dup (p.Val530GlyfsTer3) c.1836_1840dup (p.Val614GlyfsTer3) n.2649_2653dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.42729073G>A | CA7515559 | CDAN1 | c.2595C>T (p.Thr865=) c.*1773C>T (n.*1773C>T) c.588C>T (p.Thr196=) c.2598C>T (p.Thr866=) c.2622C>T (p.Thr874=) c.2619C>T (p.Thr873=) c.1587C>T (p.Thr529=) c.1839C>T (p.Thr613=) n.2652C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.42729073G>C | CA7515558 | CDAN1 | c.2595C>G (p.Thr865=) c.*1773C>G (n.*1773C>G) c.588C>G (p.Thr196=) c.2598C>G (p.Thr866=) c.2622C>G (p.Thr874=) c.2619C>G (p.Thr873=) c.1587C>G (p.Thr529=) c.1839C>G (p.Thr613=) n.2652C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729073G= | CA2172869190 | CDAN1 | c.2595C= (p.Thr865=) c.*1773C= (n.*1773C=) c.588C= (p.Thr196=) c.2598C= (p.Thr866=) c.2622C= (p.Thr874=) c.2619C= (p.Thr873=) c.1587C= (p.Thr529=) c.1839C= (p.Thr613=) n.2652C= | |
| 15 | g.42729073G>T | CA490001962 | CDAN1 | c.2595C>A (p.Thr865=) c.*1773C>A (n.*1773C>A) c.588C>A (p.Thr196=) c.2598C>A (p.Thr866=) c.2622C>A (p.Thr874=) c.2619C>A (p.Thr873=) c.1587C>A (p.Thr529=) c.1839C>A (p.Thr613=) n.2652C>A | gnomAD v4 |
| 15 | g.42729075_42729086dup | CA2628070864 | CDAN1 | c.2584_2595dup (p.Thr865_Val866insLeuArgArgThr) c.*1762_*1773dup (n.*1762_*1773dup) c.577_588dup (p.Thr196_Val197insLeuArgArgThr) c.2587_2598dup (p.Thr866_Val867insLeuArgArgThr) c.2611_2622dup (p.Thr874_Val875insLeuArgArgThr) c.2608_2619dup (p.Thr873_Val874insLeuArgArgThr) c.1576_1587dup (p.Thr529_Val530insLeuArgArgThr) c.1828_1839dup (p.Thr613_Val614insLeuArgArgThr) n.2641_2652dup | gnomAD v4 |
| 15 | g.42729074G>A | CA392037080 | CDAN1 | c.2594C>T (p.Thr865Ile) c.*1772C>T (n.*1772C>T) c.587C>T (p.Thr196Ile) c.2597C>T (p.Thr866Ile) c.2621C>T (p.Thr874Ile) c.2618C>T (p.Thr873Ile) c.1586C>T (p.Thr529Ile) c.1838C>T (p.Thr613Ile) n.2651C>T | gnomAD v4 |
| 15 | g.42729074G>C | CA392037082 | CDAN1 | c.2594C>G (p.Thr865Ser) c.*1772C>G (n.*1772C>G) c.587C>G (p.Thr196Ser) c.2597C>G (p.Thr866Ser) c.2621C>G (p.Thr874Ser) c.2618C>G (p.Thr873Ser) c.1586C>G (p.Thr529Ser) c.1838C>G (p.Thr613Ser) n.2651C>G | |
| 15 | g.42729074G>T | CA392037083 | CDAN1 | c.2594C>A (p.Thr865Asn) c.*1772C>A (n.*1772C>A) c.587C>A (p.Thr196Asn) c.2597C>A (p.Thr866Asn) c.2621C>A (p.Thr874Asn) c.2618C>A (p.Thr873Asn) c.1586C>A (p.Thr529Asn) c.1838C>A (p.Thr613Asn) n.2651C>A | |
| 15 | g.42729075_42729078dup | CA2172869191 | CDAN1 | c.2591_2594dup (p.Val866AspfsTer?) c.*1769_*1772dup (n.*1769_*1772dup) c.584_587dup (p.Val197AspfsTer?) c.2594_2597dup (p.Val867AspfsTer?) c.2618_2621dup (p.Val875AspfsTer?) c.2615_2618dup (p.Val874AspfsTer?) c.1583_1586dup (p.Val530AspfsTer?) c.1835_1838dup (p.Val614AspfsTer?) n.2648_2651dup | dbSNP |
| 15 | g.42729075T>A | CA392037085 | CDAN1 | c.2593A>T (p.Thr865Ser) c.*1771A>T (n.*1771A>T) c.586A>T (p.Thr196Ser) c.2596A>T (p.Thr866Ser) c.2620A>T (p.Thr874Ser) c.2617A>T (p.Thr873Ser) c.1585A>T (p.Thr529Ser) c.1837A>T (p.Thr613Ser) n.2650A>T | |
| 15 | g.42729075T>C | CA7515560 | CDAN1 | c.2593A>G (p.Thr865Ala) c.*1771A>G (n.*1771A>G) c.586A>G (p.Thr196Ala) c.2596A>G (p.Thr866Ala) c.2620A>G (p.Thr874Ala) c.2617A>G (p.Thr873Ala) c.1585A>G (p.Thr529Ala) c.1837A>G (p.Thr613Ala) n.2650A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42729075T>G | CA392037088 | CDAN1 | c.2593A>C (p.Thr865Pro) c.*1771A>C (n.*1771A>C) c.586A>C (p.Thr196Pro) c.2596A>C (p.Thr866Pro) c.2620A>C (p.Thr874Pro) c.2617A>C (p.Thr873Pro) c.1585A>C (p.Thr529Pro) c.1837A>C (p.Thr613Pro) n.2650A>C | |
| 15 | g.42729075T= | CA2172869192 | CDAN1 | c.2593A= (p.Thr865=) c.*1771A= (n.*1771A=) c.586A= (p.Thr196=) c.2596A= (p.Thr866=) c.2620A= (p.Thr874=) c.2617A= (p.Thr873=) c.1585A= (p.Thr529=) c.1837A= (p.Thr613=) n.2650A= |